MicroRNA-214 provokes cardiac hypertrophy via repression of EZH2
PMID: 23727574
Gene: MYH7
HGNC: 7577
2,172 Matching Annotations
- Oct 2026
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www.sciencedirect.com www.sciencedirect.com
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Poor Prognosis of Rare Sarcomeric Gene Variants in Patients with Dilated Cardiomyopathy
PMID: 24119082
Gene: MYH7
HGNC: 7577
24 rare variants (3 in MYH6, 3 in MYH7, 3 in MYBPC3, 2 in TNNT2, and 13 in TTN) affecting 52 subjects in 25 families:
MYH7 (c.2945 T>C, p.M982T; c.4300 C>T, p.R1434C; c.4498 C>T, p.R1500W)
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Trip12, a HECT domain E3 ubiquitin ligase, targets Sox6 for proteasomal degradation and affects fiber type-specific gene expression in muscle cells
PMID: 23663701
Gene: MYH7
HGNC: 7577
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias
PMID: 28491642
Gene: ACTC1
HGNC ID 143
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A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias
PMID: 28491642
Gene: ACTC1
HGNC ID: 143
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Deep basal inferoseptal crypts occur more commonly in patients with hypertrophic cardiomyopathy due to disease-causing myofilament mutations
PMID: 23771913
Gene: MYH7
HGNC: 7577
"Deep basal inferoseptal crypts occur more commonly in patients with HCM with disease-causing mutations than in those with genotype-negative HCM."
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Advanced Single-Cell Mapping Reveals that in hESC Cardiomyocytes Contraction Kinetics and Action Potential Are Independent of Myosin Isoform
PMID: 32302556
Gene: MYH7
HGNC: 7577
This study concludes that "in hESC-CMs the expression of genes associated with electrical activity, contraction, calcium handling, and MyHCs is independently regulated."
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Fetal Dilated Cardiomyopathy Associated With Variants of Uncertain Significance in MYH7 and DSG2 Genes: A Case Report and Review of the Literature
PMID: 32171501
Gene: MYH7, DSG2
HGNC: 7577, 3049
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www.ahajournals.org www.ahajournals.org
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AJV
CaseAJV: 17 years diagnosis, Australia
DiseaseAssertion: Hypertrophic Cardiomyopathy
FamilyInfo: Father (index case) died awaiting cardiac transplant (carried both variants). Two possibly affected relatives.
CasePresentingHPOs: HP:0001639, HP:0006536
(Hypertrophic cardiomyopathy, Obstructive lung disease)
HPOsFreeText: Maximum left ventricular hypertrophy at 17 mm, Sudden cardiac death event at 17 years, Maximal wall thickness at 22mm,
CaseNotHPOs: N/A
NotHPOsFreeText: N/A
CasePreviousTesting: See Table 1
CaseGenotypingMethod: DNA was isolated from peripheral blood. Most participants underwent testing from the Illumina Cardiomyopathy Sequencing Panel, which includes 46 cardiomyopathy related genes. For others, whole exome sequencing or Sanger squencing was used. After the results were returned, variants were filtered for pathogenicity and rarity.
Variant:NM_000257.3:c.1954A>G (p.Arg652Gly)
ClinVarID:177626 https://www.ncbi.nlm.nih.gov/clinvar/variation/177626/
gnomAD: Not in gnomAD
Multiple Gene Variants:
MYBPC3 Variant
Variant: NM_000256.3:c.2980C>T (p.Leu994Phe)
ClinVarID:180992 https://www.ncbi.nlm.nih.gov/clinvar/variation/180992/
gnomAD: European (Non-Finnish) 1.624e-4, Overall 8.461e-5 https://gnomad.broadinstitute.org/variant/11-47355487-G-A
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Perturbed Length–Dependent Activation in Human Hypertrophic Cardiomyopathy With Missense Sarcomeric Gene Mutations
PMID: 23508784
Gene: MYH7
HGNC: 7577
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www.jmdjournal.org www.jmdjournal.org
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DNA Sequence Capture and Next-Generation Sequencing for the Molecular Diagnosis of Genetic Cardiomyopathies
PMID: 24183960
Gene: MYH7
HGNC: 7577
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onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
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Ebstein anomaly associated with left ventricular noncompaction: An autosomal dominant condition that can be caused by mutations in MYH7
PMID: 23794396
Gene: MYH7
HGNC: 7577
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Molecular consequences of the R453C hypertrophic cardiomyopathy mutation on human β-cardiac myosin motor function
PMID: 23798412
Gene: MYH7
HGNC: 7577
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Modeling CNS Involvement in Pompe Disease Using Neural Stem Cells Generated from Patient-Derived Induced Pluripotent Stem Cells
PMID: PMC7822217
Gene: GAA
Disease: Pompe Disease
Inheritance: Autosomal Recessive
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Clinical laboratory experience of blood CRIM testing in infantile Pompe disease
PMID: 26693141
Gene: GAA
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www.sciencedirect.com www.sciencedirect.com
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Novel GAA mutations in patients with Pompe disease
PMID: 25681614
Gene: GAA
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Function, structure and quality of striated muscles in the lower extremities in patients with late onset Pompe Disease—an MRI study
PMID: 33996274
Gene: GAA
Disease: Pompe Disease
Inheritance: Autosomal Recessive
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watermark.silverchair.com watermark.silverchair.com3082.pdf1
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A Leu117rTrp Mutation Within the RGD-Peptide Cross-Linking Region ofb3 Results in Glanzmann Thrombasthenia by PreventingaIIbb3 Export tothe Platelet Surface
PMID: 9376589
Gene: ITGB3
HGNC: 6156
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www.jimmunol.org www.jimmunol.org
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A Novel Leukocyte Adhesion Deficiency III Variant:Kindlin-3 Deficiency Results in Integrin- andNonintegrin-Related Defects in Different Steps of LeukocyteAdhesion
PMID: 21441448
Gene: ITGA2B
HGNC: 6138
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Therapeutic expression of the platelet-specific integrin, αIIbβ3, in a murine model for Glanzmann thrombasthenia
PMID:* 15972454
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report
Note: This article investigated the practicality of gene therapy for correcting molecular defects in platelets, and targeted expression of the human integrin β3-subunit in megakaryocytes of β3–/– mice affected with GT. Although, this does not apply to the Platelet Disorder VCEP functional criteria, this could be useful experimental assay information as this deals with mouse models
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instructure-uploads.s3.amazonaws.com instructure-uploads.s3.amazonaws.com
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A variant thrombasthenic phenotype associated with compound heterozygosity of integrinβ3-subunit:(Met124Val)β3 alters the subunit dimerization rendering adecreased number of constitutive active αIIbβ3 receptors
PMID: 15583747
Gene: ITGB3
HGNC: 6156
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www.thieme-connect.com www.thieme-connect.com
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Low Concentrations of Recombinant Factor VIIaMay Improve the Impaired Thrombin Generationof Glanzmann Thrombasthenia Patients
PMID: 30597506
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
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Local file Local file
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Interesting variations on how a disease is defined: comparisonsof von Willebrand disease and Glanzmann thrombasthenia
PMID: 17166245
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Recognition and management of platelet-refractory bleeding in patients with Glanzmann’s thrombasthenia and other severe platelet function disorders
PMID: 28435309
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article reviews the rFVIIa clinical data in patients with GT and platelet refractoriness and discusses clinical implications relevant to the hospital-based physician. This article does not mention probands with variants in ITGA2B or ITGB3
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Local file Local file
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Bilateral linkage between a new deletion polymorphism in intron 21 of the GP IIb gene and the HPA-3b (Bakb) determinant
PMID: 8555087
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: This article mentions a variant in ITGA2B; however, there are no specific case reports in this article, rather a large cohort that was tested
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www.sciencedirect.com www.sciencedirect.com
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Modeling Glanzmann thrombasthenia using patient specific iPSCs and restoring platelet aggregation function by CD41 overexpression
PMID: 28232155
Gene: ITGA2B
HGNC: 6138
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europepmc.org europepmc.org
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In silico analysis of structural modifications in and around the integrin αIIb genu caused by ITGA2B variants in human platelets with emphasis on Glanzmann thrombasthenia.
PMID: 29385657
Gene: ITGA2B
HGNC: 6138
See Page Notes for Supplemental Proband Data
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Natural history of platelet antibody formation against αIIbβ3 in a French cohort of Glanzmann thrombasthenia patients M. FIORE Centre de Référence des Pathologies Plaquettaires (CRPP), Plateforme Technologique d’Innovation Biomédicale, Hôpital Xavier Arnozan, PessacSearch for more papers by this author N. FIRAH Hôpital des Enfants ‐ Hôpital Pellegrin – CHU Bordeaux, Unité d’Hématologie Pédiatrique, BordeauxSearch for more papers by this author X. PILLOIS Centre de Référence des Pathologies Plaquettaires (CRPP), Plateforme Technologique d’Innovation Biomédicale, Hôpital Xavier Arnozan, PessacSearch for more papers by this author P. NURDEN Centre de Référence des Pathologies Plaquettaires (CRPP), Plateforme Technologique d’Innovation Biomédicale, Hôpital Xavier Arnozan, PessacSearch for more papers by this author R. HEILIG Genoscope, Centre National de Séquençage, 91000, Evry, FranceSearch for more papers by this author A. T. NURDEN Centre de Référence des Pathologies Plaquettaires (CRPP), Plateforme Technologique d’Innovation Biomédicale, Hôpital Xavier Arnozan, PessacSearch for more papers by this author
PMID: 22250950
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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The platelet fibrinogen receptor: from megakaryocyte to the mortuary
PMID: 24175064
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a variant; however, not in a human.
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Local file Local file
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Nutritional Zinc Increases Platelet Reactivity
PMID: 1951315
Gene: ITGA2B and ITBG3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Association of thrombospondin-1 with the actin cytoskeleton of humanthrombin-activated platelets through anaIIbb3- or CD36-independentmechanism
PMID: 11964147
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a Glanzmann thrombasthenia patient who was studied; however, the patient did not have variants in ITGA2B and/or ITGB3 mentioned in this article, therefore there is insufficient evidence
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ashpublications.org ashpublications.org
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Real-Time Analysis of Mural Thrombus Formation in Various Platelet Aggregation Disorders: Distinct Shear-Dependent Roles of Platelet Receptors and Adhesive Proteins Under Flow
PMID: 10419888
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions 3Glanzmann thrombasthenia patients; however, there is no mention of variants in ITGA2B and/or ITGB3 within these patients; therefore, there is insufficient evidence. In the present study, they observed the real-time process of mural thrombogenesis on a type 1 collagen coated surface under flow conditions with various shear rates in the blood of patients with major congenital platelet aggregation disorders
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Local file Local file
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Congenital platelet disorders and understanding of plateletfunction
PMID: 24286193
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions variants in ITGA2B and ITGB3; however, there are no probands with these variants mentioned in this article. Article mentions, "Due to space restrictions, single case reports have mostly been omitted, as have many historical reports with no recent update"
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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PMID: 7492773
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention a GT case report with variants in ITGA2B and/or ITGB3; therefore, there is no evidence. This article has studied the role of vWF in the interaction of platelets with fibrin under flow conditions.
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Levonorgestrel-releasing intrauterine system for treatment of heavy menstrual bleeding in adolescents with Glanzmann’s Thrombasthenia: illustrated case series
PMID: 29486748
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: There are two probands in this article with Glanzmann thrombasthenia; however, no mention of variants in these two patients and no mention of ITGA2B or ITBG3 genes
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link.springer.com link.springer.com
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Glanzmann's Thrombasthenia
PMID: 11450390
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions two probands with Glanzmann thrombasthenia; however, no variants in ITGA2B and/or ITGB3 are mentioned in these probands therefore we have insufficient evidence
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Protein A Sepharose immunoadsorption can restore the efficacy of platelet concentrates in patients with Glanzmann's thrombasthenia and anti‐glycoprotein IIb–IIIa antibodies Isabelle Martin Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author Fayçal Kriaa Service de Néphrologie, CHU Kremlin Bicêtre, Assistance Publique‐Hôpitaux de Paris and Faculté de Médecine Paris XI, Le Kremlin‐Bicêtre,Search for more papers by this author Valérie Proulle Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author Benoît Guillet Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author Cécile Kaplan Laboratoire d'Immunologie Plaquettaire, INTS,Search for more papers by this author Roseline D'Oiron Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author Marianne Debré Unité d'Hématologie et d'Immunologie Pédiatrique, Hôpital Necker‐Enfants Malades, Paris, andSearch for more papers by this author Edith Fressinaud Laboratoire d'Hématologie, Centre Hospitalier Régional de Nantes, FranceSearch for more papers by this author Yyes Laurian Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author Gil Tchernia Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author Bernard Charpentier Service de Néphrologie, CHU Kremlin Bicêtre, Assistance Publique‐Hôpitaux de Paris and Faculté de Médecine Paris XI, Le Kremlin‐Bicêtre,Search for more papers by this author Thierry Lambert Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author Marie Dreyfus Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author
PMID: 12472579
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions GT probands; however, there is no mention of these patients harboring variants in ITGA2B and/or ITGB3; therefore, we have insufficient evidence
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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ADeletionintheGeneforGlycoproteinlibAssociatedwithGlanzmann'sThrombasthenia
PMID: 1702098
Gene: ITGA2B
HGNC: 6156
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Local file Local fileuntitled1
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Molecular Diversity of Glanzmann Thrombastheniain Southern India: New Insights Into mRNASplicing and Structure–Function CorrelationsofaIIbb3 Integrin (ITGA2B, ITGB3)
PMID: 16463284
Gene: ITGA2B and ITGB3
HGNC: 6156 and 6156
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Truncation of the Cytoplasmic Domain of b3 in a Variant Form of Glanzmann Thrombasthenia Abrogates Signaling through the Integrin aIIbb3 Complex
PMID: 9351872
Gene: ITGB3
HGNC: 6156
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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AnInheritedBleedingDisorderLinkedtoaDefectiveInteractionbetweenADPandItsReceptoronPlatelets
PMID: 7706468
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
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Local file Local file
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Red blood cell transfusion in patients with type 1 Glanzmann’sthrombasthenia
PMID: 16194208
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a proband with GT; however, there is no mention of variants in ITGA2B and/or ITGB3, therefore we have insufficient evidence
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www.thieme-connect.com www.thieme-connect.com
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Alloimmunization in Congenital Deficiencies of Platelet Surface Glycoproteins: Focus on Glanzmann's Thrombasthenia and Bernard–Soulier's Syndrome
PMID: 29879742
Gene:ITGA2B
HGNC: 6138
InsufficientEvidence Variant IVS15(+1)G > A mutation in ITGA2B is mentioned in this article; however, no proband to tie variant to therefore we have insufficient evidence
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Local file Local file
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Rapid diagnosis of the French gypsy mutation in Glanzmann thrombasthenia using high- resolution melting analysis
PMID: 20886184
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: Variant mentioned here; however, specific proband information is not provided here, probands are clumped together in cohort
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www.haematologica.org www.haematologica.org
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Three novel mutations in the glycoprotein IIb gene in a patient with type II Glanzmann thrombasthenia
PMID: 17488698
Gene: ITGA2B
HGNC: 6138
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Local file Local file
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Identification of the integrinb3 L718P mutation in a pedigreewith autosomal dominant thrombocytopenia with anisocytosis
PMID: 23253071
Gene: ITGB3
HGNC: 6156
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reader.elsevier.com reader.elsevier.com
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Triplejeopardy:AcaseofGlanzmann'sthrombastheniawithanti-GPIIb-IIIaantibodiesandHPAincompatibilityresultinginstillbirth
PMID: 31404847
Gene: ITGA2B
HGNC: 6138
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journals.lww.com journals.lww.com
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Perioperative Management of a Heterozygous Carrier of Glanzmann’s Thrombasthenia Submitted to Coronary Artery Bypass Grafting With Cardiopulmonary Bypass
PMID: 16861409
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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A novel homozygous splice junction mutation in GPIIb associated with alternative splicing, nonsense‐mediated decay of GPIIb‐mRNA, and type II Glanzmann's thrombasthenia C. González‐Manchón Department of Pathophysiology and Human Molecular Genetics, Centro de Investigaciones Biológicas (CSIC), Madrid, Spain; andSearch for more papers by this author E. G. Arias‐Salgado Department of Pathophysiology and Human Molecular Genetics, Centro de Investigaciones Biológicas (CSIC), Madrid, Spain; andSearch for more papers by this author N. Butta Department of Pathophysiology and Human Molecular Genetics, Centro de Investigaciones Biológicas (CSIC), Madrid, Spain; andSearch for more papers by this author G. Martín Department of Pathophysiology and Human Molecular Genetics, Centro de Investigaciones Biológicas (CSIC), Madrid, Spain; andSearch for more papers by this author R. B. Rodríguez Department of Pathophysiology and Human Molecular Genetics, Centro de Investigaciones Biológicas (CSIC), Madrid, Spain; andSearch for more papers by this author I. Elalamy Service d'Hématologie Biologique, Hôpital d'Enfants A Trousseau, Paris, FranceSearch for more papers by this author R. Parrilla Department of Pathophysiology and Human Molecular Genetics, Centro de Investigaciones Biológicas (CSIC), Madrid, Spain; andSearch for more papers by this author R. Favier Service d'Hématologie Biologique, Hôpital d'Enfants A Trousseau, Paris, FranceSearch for more papers by this author
PMID: 12871379
Gene: ITGA2B
HGNC: 6138
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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ANewVariantofGlanzmann'sThrombasthenia(StrasbourgI)
PMID: 1602006
Gene: ITGB3
HGNC: 6156
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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In silico analysis of Glanzmann variants of Calf-1 domain of αIIbβ3 integrin revealed dynamic allosteric effect
PMID: 28808266
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions 7 Glanzmann thrombasthenia variants that were identified in a long independent molecular dynamics simulation. There are no probands with these variants mentioned.
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www.tandfonline.com www.tandfonline.com
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Identification of one novel pathogenic ITGB3 mutation and two known mutations in two Chinese pedigrees with hereditary Glanzmann thrombasthenia
PMID: 31088191
Gene: ITGB3
HGNC: 6156
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reader.elsevier.com reader.elsevier.com
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Inherited Bleeding Disorders in the Obstetric Patient
PMID: 30097224
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mentions Glanzmann thrombasthenia probands or vairants
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations
PMID: 26096001
Gene: ITGB3 and ITGA2B
HGNC: 6156 and 6138, respectively as shown above
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www.tandfonline.com www.tandfonline.com
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Understanding the genetic basis of Glanzmann thrombasthenia: implications for treatment
PMID: 23146053
Genes: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions many variants in ITGA2B and ITGB3; however, no probands are mentioned in this review.
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reader.elsevier.com reader.elsevier.com
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DISORDERS OF PLATELET FUNCTION
PMID: 1321709
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article is a review on Glanzmann thrombasthenia, it does not mention specific patients or variants in ITGA2B and/or ITGB3; however, it does mention probands in other papers
PreviouslyPublished: PMID: 1702098, 1967954
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study
PMID: 25539746
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
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reader.elsevier.com reader.elsevier.comPII: S101
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The biologic and clinical spectrum of Glanzmann’s Thrombasthenia:implications of integrinaIIbb3for its pathogenesis
PMID: 9246538
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article is a review and goes over many patients from the Glanzmann thrombasthenia database https://glanzmann.mcw.edu/
PreviouslyPublished: All these probands have been previously published in the GT database https://glanzmann.mcw.edu/ please search the database to get info. There are no "new' case reports in this article
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www.jbc.org.libproxy.lib.unc.edu www.jbc.org.libproxy.lib.unc.edu
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A Single Amino Acid Substitution Flanking the Fourth Calcium Binding Domain of aIm Prevents Maturation of the aImp, Integrin Complex
PMID: 7508443
Gene: ITGA2B
HGNC: 6138
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Demonstration of novel gain-of-function mutations of αIIbβ3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype
PMID: 24498605
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
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reader.elsevier.com reader.elsevier.com
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QUANTITATIVE ISOLATION OF RNA FROM HUMAN PLATELETS.
PMID: 1716379
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Perioperative management of Glanzmann's syndrome: how we did it!
PMID: 20182353
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions an individual with GT; however, there is no mention of ITGA2B and/or ITGB3 variants in this individual
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Platelet aggregation induced by the C‐terminal peptide of thrombospondin‐1 requires the docking protein LAT but is largely independent of αIIb/β3 C. Trumel INSERM, Unité 563, Centre de Physiopathologie Toulouse Purpan, Department of Oncogenesis and Cell Signaling in Hematopoetic Cells, Hôpital Purpan, Toulouse;Search for more papers by this author M. Plantavid INSERM, Unité 563, Centre de Physiopathologie Toulouse Purpan, Department of Oncogenesis and Cell Signaling in Hematopoetic Cells, Hôpital Purpan, Toulouse;Search for more papers by this author S. Lévy‐Tolédano INSERM, Unité 348, Hôpital Lariboisière, Paris;Search for more papers by this author A. Ragab INSERM, Unité 563, Centre de Physiopathologie Toulouse Purpan, Department of Oncogenesis and Cell Signaling in Hematopoetic Cells, Hôpital Purpan, Toulouse;Search for more papers by this author J. P. Caen IVS, Hôpital Lariboisière, Paris; andSearch for more papers by this author E. Aguado Center d'Immunologie de Marseille‐Luminy, INSERM‐CNRS‐University Medical Case 906, Marseille, FranceSearch for more papers by this author B. Malissen Center d'Immunologie de Marseille‐Luminy, INSERM‐CNRS‐University Medical Case 906, Marseille, FranceSearch for more papers by this author B. Payrastre INSERM, Unité 563, Centre de Physiopathologie Toulouse Purpan, Department of Oncogenesis and Cell Signaling in Hematopoetic Cells, Hôpital Purpan, Toulouse;Search for more papers by this author
PMID: 12871507
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions probands with GT; however, there are no variants in ITGA2B and/or ITGB3, in these probands noted in the article
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Identification of compound heterozygous mutations in the ITGA2B gene in a Chinese patient with Glanzmann thrombasthenia.
PMID: 20819594
Gene: ITGA2B
HGNC: 6138
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pdf.sciencedirectassets.com pdf.sciencedirectassets.com
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Inhibitory and activating human antiplatelet antibodies
PMID: 10097812
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention GT patients with variants in ITGA2B and/or ITGB3; therefore there is no evidence
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ashpublications-org.libproxy.lib.unc.edu ashpublications-org.libproxy.lib.unc.edu
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Severe Proximal Deep Vein Thrombosis in a Glanzmann Thrombasthenia Variant Successfully Treated With a Low Molecular Weight Heparin
PMID: 9226191
Gene: ITGB3
HGNC: 6156
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Local file Local file
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Monitoring survival and function of transfused platelets in Glanzmann thrombasthenia by flow cytometry and thrombelastography
PMID: 16907879
Gene: ITGB3
HGNC: 6156
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www.thieme-connect.com www.thieme-connect.com
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Phosphatidylserine exposure, microparticle formation and mitochondrial depolarisation in Glanzmann thrombasthenia platelets
PMID: 24477274
Gene: ITGA2B
HGNC: 6138
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-
link.springer.com link.springer.com
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Osteopetrosis and Glanzmanns thrombasthenia in a child
PMID: 12707732
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a Glanzmann thrombasthenia patient with osteoporosis; however, the article does not mention specific variants in ITGA2B and/or ITGB3 in the proband. Rather, the discussion mentions other variants in ITGA2B and/or ITGB3 therefore we have insufficient evidence
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-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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The use of recombinant FVIIa in a patient with Glanzmann thrombasthenia with uncontrolled bleeding after tonsillectomy.
PMID: 19657319
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a patient with GT; however, no variants in ITGA2B and/or ITGB3 mentioned here
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Procoagulant Platelets Form an α-Granule Protein-covered “Cap” on Their Surface That Promotes Their Attachment to Aggregates*
PMID: 23995838
Gene: ITGB3
HGNC: 6156
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-
Local file Local file
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The Role of the Platelet Glycoprotein IIb/IIIa in Thrombosis andHaemostasis
PMID: 15134555
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients or variants in ITAG2B and/or ITGB3. This article gives more background on the molecular mechanisms of Glanzmann thrombasthenia
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www.thieme-connect.com www.thieme-connect.com
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Alterations of the platelet proteome in type I Glanzmann thrombasthenia caused by different homozygous delG frameshift mutations in ITGA2B
PMID: 29385657
Gene: ITGA2B
HGNC: 6138
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Analysis of platelet membrane glycoprotein polymorphisms in Glanzmann thrombasthenia showed the French gypsy mutation in the αIIb gene to be strongly linked to the HPA‐1b polymorphism in β3
PMID: 12871468
Gene: ITGA2B
HGNC: 6138
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Local file Local file
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Linkage disequilibrium amongstITGA2BandITGB3genevariants in patients with Glanzmann thrombasthenia confirmsthat most disease-causing mutations are recent
PMID: 27469266
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
See Page Notes for Supplementary Data
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Local file Local file
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AVariantFormofThrombasthenia
PMID: 1908636
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a Glanzmann thrombasthenia patient; however, there is no mention of variants in ITGA2B and/or ITGB3; therefore, there is insufficient evidence
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia
PMID: 32428220
Gene: GDAP2
HGNCID: HGNC:18010
-
- Sep 2026
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Case 4
Case#: Case 4, Sex: Female, Age:34
DiseaseAssertion: STGD
FamilyInfo: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: Text mentions BCVA 20/100 in both eyes later became 20/240. Bilateral atrophic-appearing foveal lesions associated with yellowish-white fundus flecks at the posterior pole. Subnormal scotopic and photopic responses. Subretinal fibrosis in left eye. Hypofluorescence due to hyperplasia of RPE in left eye.
CaseNotHPOs:n/a
CaseNotHPOFreeText: No ocular trauma.
Genotyping Method: genetic analysis
PreviouslyPublished: n/a
Variant: Variant is a heterozygous mutation given as NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)
ClinVar: Variation ID: 7894
CAID: CA119135
SupplementalData: n/a
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Case 2
Case#: Case 2, Sex: Male, Age:20
DiseaseAssertion: STGD
FamilyInfo: n/a
CasePresentingHPOs: HP:0007663, HP:0007401
CaseHPOFreeText: Text mentions visual acuity of 20/32 in right eye and 20/50 in left eye but later degrades to 20/200 in both eyes. pigmented changes in macula associated with flecks. Area of subretinal fibrosis in right eye. Subnormal scotopic and photopic responses. Instable fixation in both eyes with low retinal mean sensitivity. Hypofluorescent central area corresponding to macular atrophy and corresponding to flecks. Atrophic areas, some with pigment, localized in the temporal sector of the left eye which have become areas of subretinal fibrosis.
CaseNotHPOs:n/a
CaseNotHPOFreeText: Anterior segment showed a healthy ocular adnexa, and specular, transparent and 'in situ' lens, absence of any ocular trauma.
Genotyping Method: genetic analysis
PreviouslyPublished: n/a
Variant: Variant is a homozygous mutation given as NM_000350.3(ABCA4):c.571-2A>T
ClinVar: Variation ID: 1048133
CAID: CA958800
SupplementalData: n/a
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Subretinal Fibrosis in Stargardt's Disease with Fundus Flavimaculatus and ABCA4 Gene Mutation
PMID:23341817
Gene: ABCA4
HGNC ID: 34
-
Case 1
Case#: Case1, Sex:Female, Age:35
DiseaseAssertion: STGD
FamilyInfo: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: Clinical Notes: the patient reported an ocular trauma in the right eye, which required hospitalization and caused sudden loss of vision at the age of 9 years. In 1998, at our first observation, visual acuity was 20/1,000 in the right eye and 20/600 in the left eye.
CaseNotHPOs:n/a
CaseNotHPOFreeText: n/a
Genotyping Method: genetic analysis
PreviouslyPublished: n/a
Variant: Variant is a heterozygous mutation given as (N965S/G1961E); NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser) /NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
ClinVar: Variation ID: 236096 / Variation ID: 7888
SupplementalData: n/a
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Case 3
Case#: Case 3, Sex: Male, Age:21
DiseaseAssertion: STGD
FamilyInfo: n/a
CasePresentingHPOs:
CaseHPOFreeText: Text mentions BCVA of 20/200 in both eyes. Pigmentary changes in macula associated with flecks, small inferior juxta-papillar area of subretinal fibrosis in right eye, left eye legion localized in posterior pole macula temporally. Instable fixation in right eye. Low retinal mean sensitivity in both eyes.
CaseNotHPOs:n/a
CaseNotHPOFreeText: Healthy ocular adnexa and specular transparent and 'in situ' lens. Visual acuity stable. Stable fixation in left eye.
Genotyping Method: genetic analysis
PreviouslyPublished: n/a
Variant: Variant is a heterozygous mutation given as NM_000350.3(ABCA4):c.3212C>T (p.Ser1071Leu) / NM_000350.3(ABCA4):c.667A>C (p.Lys223Gln) / NM_000350.3(ABCA4):c.3607G>A (p.Gly1203Arg)
ClinVar: Variation ID: 99208 / Variation ID: 845426/ Variation ID: 417989
SupplementalData: n/a
Tags
- MultipleGeneVariants
- Gene:ABCA4
- DiseaseEntity:STGD1
- PMID:3341817
- inferred_gene_hgnc:34
- ClinVarID:7894
- HGNC:34
- inferred_gene_source:hgnc_tag
- UnregisteredVariant
- MacularFlecks
- MacularAtrophy
- Zygosity:Heterozygous
- DecreasedCentralVA
- "DiseaseEntity:StargardtDisease"
- ClinVarID:1048133
- "Gene:ABCA4"
- ClinVarID:99208
- ClinGen ABCA4 Annotations
- Zygosity:Homozygous
- ClinVarID:236096
Annotators
URL
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Patient 3
Case#: 25 year old Female, Sikh, India, Punjab
DiseaseAssertion: EORSD
FamilyInfo: Family history for other disease were negative
CasePresentingHPOs: HP:0007401, HP:0007913
CaseHPOFreeText: Macular atrophy, scar and pigment OU, plus midperipheral pigmentation OU
CaseNotHPOs: N/a
CaseNotHPOFreeText: N/a
Genotyping Method: BGISeq-500 2 x 100-bp paired-end module, Burrows-Wheeler Aligner and Genome Analysis Tooklit HaploptypeCaller
PreviouslyPublished: N/a
Variant: NM_000350.3(ABCA4):c.6729+5_6729+19del
ClinVar: 283573
CAID: CA501163
SupplementalData: Family reported never saw well and had poor vision and nystagmus before the age of one.
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Patient 1
Case#: German/British, 76
DiseaseAssertion: EOSRD
FamilyInfo: Grandparents from Germany and the United Kingdom
CasePresentingHPOs: HP:0007401, HP:0007913
CaseHPOFreeText: Macular atrophy and pigmentation, peripheral pigmentation, early-onset severe retinal dystrophy
CaseNotHPOs: N/a
CaseNotHPOFreeText: N/a
Genotyping Method: BGISeq-500 2 x 100-bp paired-end module, Burrows-Wheeler Aligner and Genome Analysis Tooklit HaploptypeCaller
PreviouslyPublished: n/a
Variant: c.1622T>C, c.4326C>A, and c.3113C>T
ClinVar: 99067, 417991, 7894
CAID: CA226911, CA957653, CA119135
SupplementalData: The c.1622T>C variants and c.3133C>T are thought to be same gene copy
-
Patient 2
Case#: 39 Year Old Female, India Punjab
DiseaseAssertion: EORSD
FamilyInfo: Family history for other disease was negative, husband was first cousin and their son had normal vision
CasePresentingHPOs: HP:0007401, HP:0007913
CaseHPOFreeText: Macular atrophy and pigmentation, yellowish flecks
CaseNotHPOs: N/a
CaseNotHPOFreeText: N/a
Genotyping Method: BGISeq-500 2 x 100-bp paired-end module, Burrows-Wheeler Aligner and Genome Analysis Tooklit HaploptypeCaller
PreviouslyPublished: N/a
Variant: NM_000350.3(ABCA4):c.6729+5_6729+19del
ClinVar: 283573
CAID: CA501163
SupplementalData: Confirmed that she had never seen properly or normally, marked horizontal nystagmus and poor pupil reaction to light
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Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy
PMID: 40465261
Gene: ABCA4
HGNC ID: 34
Tags
- Gene:ABCA4
- CAID:CA119135
- CAID:CA501163
- inferred_gene_hgnc:34
- ClinVarID:7894
- HGNC:34
- inferred_gene_source:hgnc_tag
- ClinVarID:283573
- Early-onsetSeverRetinalDystrophy
- MacularAtrophy
- MidperipheralPigmentationOU
- ClinVarID:99067
- DiseaseEntity:EOSRD
- ScarAndPigmentOU
- ClinVarID:417991
- YellowishFlecks
- PMID:40465261
- CAID:CA957653
- ClinGen ABCA4 Annotations
- PeripheralPigmentation
- CAID:CA226911
- Zygosity:Homozygous
- InheritancePatter:AutosomalRecessive
- General
Annotators
URL
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Homozygous mutation in ABCA4 associated with cone rod dystrophy in a patient with Turner syndrome
PMID: 33899203
Gene: ABCA4
HGNC ID: 34
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link.springer.com link.springer.com
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STGD-01
Case#: Case1, Sex:Male, Age:19
DiseaseAssertion: STGD
FamilyInfo: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: Clinical Notes: Peripapillary sparing, discrete flecks; nummular atrophy. General notes: Panretinal cone dysfunction with preserved rod function was documented by ERG
CaseNotHPOs:n/a
CaseNotHPOFreeText: n/a
Genotyping Method: Whole exome sequencing data generation. Additional sequencing targeted amplification fo PRPH2 and ELOVL4 using PCR.
PreviouslyPublished: n/a
Variant: Variant 1 given as p.N965S; NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser). Variant 2 given as p.R2038W; NM_000350.3(ABCA4):c.6112C>T (p.Arg2038Trp)
ClinVar: Variation ID: 236096; Variation ID: 99430
CAID: CA958124; CA227368
SupplementalData: Proband variant information given in Table 1.
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STGD-06
Case#: Case 6, Sex:Female, Age:34
DiseaseAssertion: STGD
FamilyInfo: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: Clinical Notes: Classic Stargardt. General notes: participant had classic features of STGD and field ERG showed abnormal cone responses with preserved rod function.
CaseNotHPOs:n/a
CaseNotHPOFreeText: n/a
Genotyping Method: Exome sequencing data generation. Additional sequencing targeted amplification fo PRPH2 and ELOVL4 using PCR.
PreviouslyPublished: n/a
Variant: ABCA4, NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala)
ClinVar: Variation ID: 99180
SupplementalData: Proband variant information given in Table 1.
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STGD-02
Case#: Case2, Sex:Female, Age:15
DiseaseAssertion: STGD
FamilyInfo: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: Clinical Notes: Few yellowish Flecks without autofluorescence. General notes: participant presented with atypical macular degeneration.
CaseNotHPOs:n/a
CaseNotHPOFreeText: n/a
Genotyping Method: Exome sequencing data generation. Additional sequencing targeted amplification fo PRPH2 and ELOVL4 using PCR.
PreviouslyPublished: n/a
Variant: Variant 1 given as p.G1961E; NM_000350.3:c.5882G>A p.(Gly1961Glu) . Variant 2 given as p.Q636X; NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter).
ClinVar: Variation ID: 7888 ; Variation ID: 265012
CAID: ; CA10588302
SupplementalData: Proband variant information given in Table 1.
-
Molecular diagnosis of putative Stargardt disease probands by exome sequencing
PMID: 22863181
Gene: ABCA4
HGNC ID: 34
Tags
- Gene:ABCA4
- DiseaseEntity:STGD1
- inferred_gene_hgnc:34
- HGNC:34
- inferred_gene_source:hgnc_tag
- CAID:CA227368
- PeripapillarySparing
- ClinVarID:265012
- PMID:22863181
- ClinVarID:99180
- InheritancePattern:AutosomalRecessive
- ClinGen ABCA4 Annotations
- DiseaseEntity:ARMD2
- SupplementalData
- FundusAlbipunctatus
- ClinVarID:236096
Annotators
URL
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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A case of pentosan polysulfate maculopathy originally diagnosed as stargardt disease
PMID:32043016
Gene: ABCA4
HGNC ID: 34
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Complex Inheritance of ABCA4 Disease: Four Mutations in a Family with Multiple Macular Phenotypes
PMID: 26527198
Gene: ABCA4
HGNC ID: 34
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Complex Inheritance of ABCA4 Disease: Four Mutations in a Family with Multiple Macular Phenotypes
PMID: 26527198
Gene: ABCA4
HGNCID: HGNC:34
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Patient 2 is the 47-year-old sister of patient 1.
Case#: 47-year-old female, sibling of patient 1.
DiseaseAssertion: Discordant STGD phenotype
FamilyInfo: The mother was found to harbour p.L541V/p.A1038V, and the father carried the p.R811C mutation; both of whom were asymptomatic with normal retinal examination (Fig. 1). ABCA4 screening detected three variants: two variants p.L541V and p.A1038V – commonly co-inherited in a complex allele in STGD (Maugeri et al. 2000) – and a third novel variant p.R881C (Fig. 1). Patient 1 had all three variants
CasePresentingHPOs: HP:0007401, HP:0025010, HP:0011507
CasePhenotypeFreeText: Patient 2 is the 47-year-old sister of patient 1. At initial examination in 1994, she reported a central scotoma. VA was 6/9 in both eyes with bilateral subtle foveal atrophy and perifoveal yellowish-white flecks (Fig. 1). By 2003, foveal atrophy had progressed with more perifoveal flecks (Fig. 1). In 2012, her VA was 6/12 bilaterally, but fundus findings remained stable (Fig. 1). AF imaging demonstrated a mottled signal within the central macula, optical coherence tomography showed outer retinal disruption confined to the central macula
CaseNotHPOs: N/A
CaseNotPhenotypeFreeText: N/A
CasePreviousTesting: The article mentions ABCA4 screen but does not go into detail. However, it does say,”(patient 2) harboured the complex allele (p.L541V/p.A1038V)”
GenotypingMethod: Again only mentioned ABCA4 screening without going into detail.
Variant: NM_000350.3:c.1621C>G and NM_000350.3(ABCA4):c.3113C>T
LegacyVariant: c.1621C>G (p.Leu541Val) and c.3113C>T(p.Ala1038Val)
CAID: CA341280463 and CA119135
gnomeAD: chr1-94063251-G-C and chr1-94043413-G-A
PreviouslyPublished: N/A
AdditionalInfo: Figure 1 provides information about the imaging of patients’ eyes that helps determine phenotype.
-
Patient 1 is 44 years old and presented in 1991 aged 23 with deteriorating central vision and visual acuity (VA) of 6/36 in the right eye and 6/60 in the left. Fundus photography in 1994 identified bilateral numerous yellowish-white flecks at the posterior pole (Fig. 1). In 2003, her VA was 6/60 in each eye, with bilateral macular atrophy surrounded by flecks (Fig. 1). Autofluorescence (AF) imaging in 2005 detected a localized low signal at the macula with numerous foci of abnormal signal (Fig. 1). By 2008, the macular atrophy had enlarged and flecks were less apparent.
Case#: Female, age 44 years old
DiseaseAssertion: Discordant STGD phenotype
FamilyInfo: Information revolving the sister of this patient is given as well as they both have a discordant STGD phenotype. Additionally, it mentions that the parents each harboured a mutation but were asymptomatic/had normal examination results.
CasePresentingHPOs: HP:0001141, HP:0007401, HP:0030602
CaseHPOFreeText: At 23 central vision was deteriorating and patient had a VA of 6/36 in the right eye and 6/60 in the left. Through fundus photography, bilateral yellow/white flecks were found at the posterior pole. 12 years later, her VA was retested and it was 6/60 in both eyes. After autofluorescnece (AF) imaging was done, there was localized low signal at the macula found with abnromal foci. In 2008 her macular atrophy had enlarged and the flecks were less apparent.
CaseNotHPOs: N/a
CaseNotHPOFreeText: In this article there was not a phenotype presented that was normal.
CasePreviousTesting: It mentioned that there were two previously reported variants on the same allele detected in the siblings and one unique novel variant on the second allele for this patient. However, the testing they used was not listed, it just stated that the variants were found through sequencing. For this patient the variants were p.L541P/p.A1038V and p.R881C.
GenotypingMethod: Just mentioned sequencing and ABCA4 screening to look for two variants p.L541V and p.A1038V and a third novel variant p.R881C.
PreviouslyPublished: N/a
Variant: 1) NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) 2) NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) 3) N/a
ClinVar ID: 1) 99067 2) 7894 3) N/a
**CAID: ** 3) Because there was not a reference or alternate allele provided in this article I was unable to find a CAID for p.R881C.
gnomAD: 1) Highest minor allele frequency was 0.00017 (https://www.ncbi.nlm.nih.gov/clinvar/variation/99067/) 2) Highest minor allele frequency was 0.00188 (https://www.ncbi.nlm.nih.gov/clinvar/variation/7894/) 3) N/a
SupplementalData: Figure 1 had information regarding imaging and other testing done on the patient that is vital for phenotypic characterization. Also, it mentions a variant known as p.R881C, but was unable to find anything on ClinVar or gnomAD.
Tags
- PerifovealYellowishWhiteFlecks
- Gene:ABCA4
- (6)DiseaseEntity:STGD1
- inferred_gene_hgnc:34
- HGNC:34
- inferred_gene_source:hgnc_tag
- AlleleOrigin:Somatic
- FamilyInfo
- Zygosity:CompoundHeterozygous
- InheritancePattern:AutosomalRecessive
- (2)FundusAutofluorescence
- DiseaseAssertion:DiscordantStargardt'sDisease
- ClinGen ABCA4 Annotations
- (1)MacularFlecks
- FovealAtrophy
- (13) MacularAtrophy
- (17)DecreasedCentralVA
Annotators
URL
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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The patient was an 80-year-old man
Case#: 80 yo M, siagonosed at 18 yo
DiseaseAssertion: Stargardt
FamilyInfo: one of his 2 sisters had same mutation to ABCA4
CasePresentingHPOs:,HP:0007663, HP:0008002
CaseHPOFreeText: RPE hyperplasia, atrophy of the inner and outer photoreceptor segments, the outer nuclear layer, and the outer plexiform layer, with scanty RPE cells in the macular area
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
Genotyping Method: N/A
PreviouslyPublished: none
Variant: G1961E
ClinVar: 7888
SupplementalData: See supplemental Material for further look at the probands Human Embryonic Stem Cell-derived Retinal Pigment Epithelium Transplantation
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-
www.dovepress.com www.dovepress.com
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A 69-year-old female patient complained of progressive vision loss. Her parents were first cousins. She had been diagnosed with retinitis pigmentosa 27 years previously.
Case#: Female, 69yo, Puerto Rican
DiseaseAssertion: STDG1
FamilyInfo: Parents were first cousins (consanguinity), no other family history reported
CasePresentingHPOs: HP:0030603, HP:0007754, HP:0000512, HP:0008020, HP:0000603
CaseHPOFreeText: progressive vision loss, severe reduction in visual acuity (counting fingers at 5’ and 3’), bilateral central scotoma, extensive central macular atrophy, retinal pigment epithelium atrophy and pigment hyperplasia, multifocal retinal atrophy, central hypoautofluorescence with peripheral expansion, reduced macular thickness and volume on OCT, abnormal visual field (marked mean deviation)
CaseNotHPOs: HP:0000510
CaseNotHPOFreeText: normal rod response on full-field electroretinogram
Genotyping Method: Next-generation sequencing (Invitae Corporation, San Francisco, California)
PreviouslyPublished: N/A
Variant: NM_000350.3(ABCA4):c.5714+5G>A
ClinVar: ClinVarID:99403
CAID: N/A
SupplementalData: N/A
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Stargardt Disease Due to an Intronic Mutation in the ABCA4: A Case Report
PMID: 36471740
Gene: ABCA4
HGNC ID: 34
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy
PMID:31721179
Gene: ABCA4
HGNC ID: 34
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proband at age 5, targeted testing of ABCA4
Case#: 1
DiseaseAssertion: stargardt disease originally but didn;t have fishtail flecks
FamilyInfo: both unaffected parents carrying heterozygous MFSD8 variants
CasePresentingHPOs:HP:0001272
CaseHPOFreeText:at 5 years old BCVA was measured at a Snellen equivalent at 0.13 in both eyes, at age 8, BCVA had decreased to 0.07 in both eyes, complete absence of all retinal responses on full‐field flash ERG, No fishtail flecks typical of Stargardt disease were observed
CaseNotHPOs: n/a
CaseNotHPOFreeText:n/a
Genotyping Method: HaloPlex target enrichment kit amplified and sequenced using illumina, then WES
PreviouslyPublished: n/a
Variant: c.3113C>T p.(Ala1038Val)
ClinVar: https://www.ncbi.nlm.nih.gov/clinvar/variation/7894/
SupplementalData: MFSD8 variants identified
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iovs.arvojournals.org iovs.arvojournals.org
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ABCR Gene Analysis in Familial Exudative Age-Related Macular Degeneration
PMID: 10634626 Gene: ABCA4 HGNCID: HGNC:34
Fifty-two unrelated French patients referred to the Eye University Clinic of Creteil for unilateral or bilateral exudative AMD due to any type of choroidal neovascularization (well-defined, occult, or vascularized pigment epithelium detachment) were included in this study.
SSCP analysis in a control population, obtained from 90 unrelated French individuals without any complaint of visual impairment. Our control group was not age- or sex-matched, and no ophthalmological examination was performed for these individuals.
MonDO:
Case: DiseaseAssertion: Age-related macular degeneration FamilyInfo: CasePresentingHPOs: CaseHPOFreeText: CaseNOTHPOs: CaseNOTHPOFreeText: CasePreviousTesting:
GenotypingMethod: entire coding sequence of the ABCR gene using a combination of single-strand conformation polymorphism (SSCP) and direct sequence analysis of each exon
Variant: "ABCR" (ABCA4), p.Ser2255ile
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Induced pluripotent stem cell line BIOi003-A from a patient with ABCA4-associated retinal dystrophy carrying compound heterozygous c.(1222C>T;2919-884G>T) variants in ABCA4
PMID: 35973334
Gene: ABCA4
HGNC ID: 34
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Induced pluripotent stem cell line BIOi003-A from a patient with ABCA4-associated retinal dystrophy carrying compound heterozygous c.(1222C>T;2919-884G>T) variants in ABCA4
PMID: 35973334
Gene: ABCA4
HGNC ID: 34
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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A 12-Year-Old Girl with Bilateral Coats Disease and ABCA4 Gene Mutation
PMID: 30186147
Gene: ABCA4
HGNC ID: 34
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ABCA4 gene mutation
Case#: 1 female, 12 years old.
DiseaseAssertion: bilateral stage 2B Coats disease. ABCA4 gene mutations were found upon genetic analysis but Stargardt disease was not diagnosed.
FamilyInfo: Single affected individual. Past medical history and family history was reported as normal. No additional information about family is provided in text.
CasePresentingHPOs: HP:0007663 - Reduced visual acuity, HP:0001147 - Retinal exudate, HP:0007763 - Retinal telangiectasia, HP:0025355 - Retinal arteriolar macroaneurysms, HP:0011505- Cystoid macular edema, HP:0020032 - Hyperreflective retinal dots on OCT, HP:0001045 - Vitiligo
CaseHPOFreeText: bilateral significant capillary nonperfusion noted mostly in the temporal retinal periphery together with light-bulb-like capillary dilations and staining of telangiectatic vessels. Mild intravitreal hemorrhage
CaseNotHPOs: HP:0012045 - Retinal flecks, HP:0025010 - Foveal atrophy, HP:0000603 - Central scotoma, HP:0000556 - Retinal dystrophy, HP:0000512 - Abnormal electroretinogram
CaseNotHPOFreeText: Relatively normal foveal architecture.
Genotyping Method: Genetic analysis was performed using Sanger sequencing for the NDP gene, which revealed no pathogenic variants. Exome sequencing was then used with the Illumina HiSeq 2500 platform, which identified two compound heterozygous variants in the ABCA4 gene. Lastly, no mutations were found in the TINF2 gene.
PreviouslyPublished: N/A
Variant: NM_000350.3(ABCA4):c.1373C>T (p.Arg458Cys), NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
ClinVar: Variation ID: 7888 ( for p.Arg458Cys variant however I believe this is mislabeled for this variant NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu), no variantion ID found for NM_000350.3(ABCA4):c.1373C>T (p.Arg458Cys)
CAID: N/A
SupplementalData: N/A
Tags
- MultipleGeneVariants
- Gene:ABCA4
- ClinVarID:7888
- inferred_gene_hgnc:34
- HGNC:34
- inferred_gene_source:hgnc_tag
- PMID:30186147
- UnregisteredVariant
- AlleleOrigin:Germline
- Zygosity:CompoundHeterozygous
- PreviousTesting
- DecreasedCentralVA
- InheritancePattern:AutosomalRecessive
- ClinGen ABCA4 Annotations
- DiseaseEntity:NoDiseaseAssertion
- General
Annotators
URL
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Case 3: RP3.03
Case:RP3,03, male proband with first symptoms as 18 years old. DiseaseAssertion:RP19 FamilyInfo:Proband was born in a consangiuineous family of Moroccan origin. Parents were unaffected. InheritancePattern:AutosomalRecessive CasePresentingHPOs:HP:0007994,HP:0000510,HP:0100014 CaseHPOFreeText:Difficulty with dark adaptation, Fig 4B severe impairment of the entire visual field. Fig 4A Scotopic and photopic ERG traces were altered indicating rod and cone photoreceptor dysfunctions. Macular OCT showed relative preservation of the foveal structure. Epiretinal membrane formation was observed. CaseNOTHPOs:HP:0007667 CaseNOTHPOFreeText:absence of cystic spaces CasePreviousTesting: GenotypingMethod:Whole exome sequencing MultipleGeneVariants: compound heterozygous GeneName:ABCA4 Variant:NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) ClinVarID :7892 gnomAD:0.00362 GeneName:ABCA4 Variant:NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) ClinVarID :7884 gnomAD:0.00308
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Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes
PMID: PMC7883928
Gene: ABCA4
HGNC ID: 34
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Case 3: RP3.03
Case#: RP3.03, 23yo, 21yo on set, Moroccan
DiseaseAssertion: Retinitis Pigmentosa (RP19)
FamilyInfo: Born into a consanguineous family, parents are unaffected, has five unaffected siblings
CasePresentingHPOs: HP:0000505, HP:0007675, HP:0001133, HP:0007994, HP:0007843, HP:0000510, HP:0000580, HP:0007703
CaseHPOFreeText: Abnormal epiretinal membrane formation, Altered ERG traces, rod and cone photoreceptor dysfunctions, hyper fuorescence ring surrounding macula and peripheral retina, absence of cystic spaces
CaseNotHPOs: HP:0000551
CaseNotHPOFreeText: Central vision loss
Genotyping Method: Genomic DNA was extracted using QIAamp DND Blood Mini Kit, DNA underwent WES by BGI Tech Solutions, DNA was captured by MGIEasy Exome Capture V4 Probe Set, then Alligned using the Burrows-Wheeler Aligner and HaplotypeCaller of GAWK
PreviouslyPublished: CRB1, PDE6B
Variant: c.5908C>T, c.6148G>C
ClinVar: 7892, 7884
SupplementalData: Clinical data (table 1, figure 5), Genetic analysis (table 2), Patient Pedigree (figure 1.)
Tags
- MultipleGeneVariants
- Gene:ABCA4
- ClinVarID :7884
- inferred_gene_hgnc:34
- HGNC:34
- PigmentaryRetinopathyAttenuatedVessels
- inferred_gene_source:hgnc_tag
- AlleleOrigin:Somatic
- FundusAutofluorescence
- AlleleOrigin:Germline
- Zygosity:CompoundHeterozygous
- NightBlindness
- InheritancePattern:AutosomalRecessive
- DecreasedERGResponses
- DecreasedPeripheralVision
- ClinGen ABCA4 Annotations
- ClinVarID :7892
- DiseaseEntity:RP19
Annotators
URL
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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A 43-year-old white female
Case#: 43 year old woman II:2
DiseaseAssertion: Stargardt disease (STGD1)
FamilyInfo: none of family had co-existing systemic disorders, father carried variant, probands affected suster did not
CasePresentingHPOs:HP:0000007
CaseHPOFreeText: loss of ellipsoid zone, mascular dystrophy with features of bull's eye maculopathy,
CaseNotHPOs: na
CaseNotHPOFreeText: na
Genotyping Method: sanger sequencing
PreviouslyPublished: n/a
Variant: c.4685 T > C, p.(I1562T)
ClinVar: not found
CAID: not found
SupplementalData: probands affected sister did not carry the ABAA4 variant, indicating ABCA4 was not relevant to mascular dystrophy in family, CRX variant was also found
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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In this molecular study, we identified a 40-year-old woman diagnosed with STGD in childhood, who had an apparently homozygous pattern for the missense p.Arg1129Leu (c.3386G>T) mutation
Case Annotation Template
Case#: Patient 40, female, Caucasian, onset at 2-3yo, Spain
DiseaseAssertion: STGD
FamilyInfo: Brother and Sister not affected showed heterozygous patterns of (p.His423Arg (c.1268A>G), IVS33+48 C>T) mutations. R1129L mutation heterozygous in the unaffected father; mutation not found in the unaffected mother. Patient has 4yo asymptomatic female child
CasePresentingHPOs: HP:0000505, HP: 0011463, HP:0030786, HP:0007641, HP:0007663, HP: 0000610, HP: 0007814, HP:0000007
CaseHPOFreeText: Macular yellow flecks, macular dystrophy
CaseNotHPOs: N/A
CaseNotHPOFreeText: Normal biomicroscopy
Genotyping Method: Conventional mutational screening on 77 STGD families and screened on the ABCR400 Microarray. Haplotype analyses, HR karyotypes, and MLPA were also performed.
PreviouslyPublished: N/A
Variant: p.Arg1129Leu (c.3386G>T)
CAID: CA227116
SupplementalData:N/A
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Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease
PMID: 17277736
Gene: ABCA4
HGNC ID: 34
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www.sciencedirect.com www.sciencedirect.com
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Longitudinal Analysis of a Resolving Foveomacular Vitelliform Lesion in ABCA4 Disease
PMID: 35413457
Gene: ABCA4
HGNC ID: 34
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A 25-year-old White man presented with bilateral central vision loss due to foveal lesions consisting of vitelliform fluid.
Case#: Patient 1, male, Caucasian, onset at 20yo, USA
DiseaseAssertion: ABCA4
FamilyInfo: No family history of retinal disease.
CasePresentingHPOs: HP:0007677, HP:0030603, HP:0030500, HP:0030636, HP:0004328, HP:0012372
CaseHPOFreeText: Bilateral central vision loss, progressive decline in visual acuity (20/60 both eyes), foveomacular vitelliform lesions with fluid accumulation, optical gap lesions progressing to cavitated appearance after fluid resorption, thinning and abnormal reflectivity of photoreceptor layers, near-infrared autofluorescence abnormalities in lesion-adjacent regions
CaseNotHPOs: HP:0000510, HP:0000511
CaseNotHPOFreeText: No generalized rod or cone dysfunction on full-field electroretinogram, EOG findings not consistent with bestrophinopathy (Arden ratio 1.62)
Genotyping Method: Exome sequencing
PreviouslyPublished: None
Variant: NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu), NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)
ClinVar: ClinVarID:7888, ClinVarID:7904
CAID: N/A
SupplementalData: N/A
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Preimplantation Genetic Diagnosis for Stargardt Disease
PMID: 20149343
Gene: ABCA4
HGNC ID: 34
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www.sciencedirect.com www.sciencedirect.com
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A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease
PMID: 10612508
Gene: ABCA4
HGNC ID: 34
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Patient 4, a 33-year-old Caucasian woman, presented in July 1998 with a gradual decline in visual acuity over the last 9 years and a best-corrected visual acuity of 20/300 in both eyes.
Case#: Patient 4, Female, Caucasian, 33yo
DiseaseAssertion: STGD1
FamilyInfo: One of eight siblings; four affected. Disease segregates with ABCA4 variants consistent with autosomal recessive inheritance. Parents are deceased and can't be tested.
CasePresentingHPOs: HP:0007663, HP:0007754, HP:0025147, HP:0007924, HP:0011507
CaseHPOFreeText: gradual decline in visual acuity over 9 years, BCVA 20/300 OU, bilateral beaten-bronze appearance of the macula, numerous perimacular yellow flecks, fluorescein angiography showing hyperfluorescence in the posterior pole and dark choroid in the periphery
CaseNotHPOs: N/A
CaseNotHPOFreeText: absence of central hypofluorescence on fluorescein angiography (present in affected siblings but not this patient)
Genotyping Method: SSCP analysis; Taq Dyedeoxy Terminator Cycle Sequencing kit
PreviouslyPublished: N/A
Variant: NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala), NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr)
ClinVar: ClinVarID:7879, ClinVarID:99065
CAID: N/A
SupplementalData: Segregation and sequencing data (Figures 1, 4)
Tags
- Gene:ABCA4
- DiseaseEntity:STGD1
- inferred_gene_hgnc:34
- inferred_gene_source:hgnc_tag
- HGNC:34
- BeatenBronzeAppearance
- MacularFlecks
- ClinVarID:99065
- MacularAtrophy
- FamilyInfo
- ClinVarID:7879
- PMID:10612508
- Zygosity:CompoundHeterozygous
- CaseInfo
- AlleleOrigin:Germline
- DecreasedCentralVA
- InheritancePattern:AutosomalRecessive
- Individual
- ClinGen ABCA4 Annotations
- General
Annotators
URL
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Genetic testing by target enrichment and next-generation sequencing was performed (Molecular Vision Laboratory, Hillsboro, Oregon) and revealed two pathogenic variations in the ABCA4 gene, c.5461-10T>C4 and c.5603A>T,5 confirming the diagnosis of late-onset SD.
Case#: Male, 60
DiseaseAssertion: Stargardt disease
FamilyInfo: Possible macular degeneration in father
CasePresentingHPOs: HP:0007401, HP:0025010
CaseHPOFreeText: Vision was 20/40 in the right eye and 20/20 in the left eye. Dilated examination revealed scattered subretinal yellow flecks and macular atrophy bilaterally. The flecks were hyperautofluorescent. Fluorescein angiography showed obscuration of background choroidal fluorescence and window defects associated with the atrophy. Optical coherence tomography showed foveal atrophy and hyperreflective deposits at the level of the retinal pigment epithelium.
CaseNotHPOs: N/A
CaseNotHPOFreeText: Anterior segment examination was unremarkable. Normal cone and rod responses.
CasePreviousTesting: Target enrichment and next-generation sequencing were performed.
GenotypingMethod: N/A
PreviouslyPublished: N/A
Variant: Variant 1: NM_000350.3:c.5461-10T>C Variant 2: NM_000350.3:c.5603A>T
ClinVar: Variant 1: 92870 Variant 2: 99390
gnomAD: N/A
SupplementalData: Figure 1 shows fundus photographs (A and B), fundus autofluorescence (C and D), fluorescein angiography (E and F), near-infrared reflectance imaging (G), and an optical coherence tomography scan (H).
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A 60-year-old man presented with right eye blurry vision for two years.
Case #: Male, 60 years old
DiseaseAssertion: He was diagnosed with late-onset Stargardts disease.
FamilyInfo: Has a family history with his father possibly having macular degeneration.
CasePresentingHPOs: HP:0007401, HP:0025010, HP:0012045 (sub-retinal/yellow), HP:0030602
CaseHPOFreeText: Proband presents with blurry vision (right eye) from over the past two years, with the right eye having 20/40 vision, while the left was 20/20. In addition to this, through dilation scattered subretinal yellow flecks and macular atrophy bilaterally, were revealed. The flecks were hyperautofluorescent. Obscuration of background choroidal fluorescence and window defects were also found. As well as foveal atrophy and hyperreflective deposits (RPE).
CaseNotHPOs: None found
CaseNotHPOFreeText: No abnormalities in the anterior segment examination. Through a full-field electroretinogram, normal rod and cone responses were found.
Genotyping Method: The genotyping was done through the use of target enrichment and next-generation sequencing.
PreviouslyPublished: N/a
Variant: 1) NM_000350.3(ABCA4):c.5461-10T>C 2) NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)
ClinVar: 1) 92870 2) 99390
CAID: N/a
gnomAD: 1) Highest minor allele frequency was 0.00031 (https://www.ncbi.nlm.nih.gov/clinvar/variation/92870/) 2) Highest minor allele frequency was 0.05787 (https://www.ncbi.nlm.nih.gov/clinvar/variation/99390/)
SupplementalData: I was able to find a variant (NM_000350.3(ABCA4):c.[5461-10T>C;5603A>T]) that addresses both of the variants. Also, Fig.1 shows the phenotype of the proband through tests.
Tags
- Gene:ABCA4
- DiseaseEntity:STGD1
- inferred_gene_hgnc:34
- HGNC:34
- inferred_gene_source:hgnc_tag
- AlleleOrigin:Somatic
- Zygosity: NoZygosityAssertion
- MacularAtrophy
- FundusAutofluorescence
- InheritancePattern:AutosomalRecessive
- (2)FundusAutofluorescence
- ClinGen ABCA4 Annotations
- (13) MacularAtrophy
- (6)DiseaseEntity:STGD1
Annotators
URL
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Early-Onset Stargardt Disease Caused by Homozygosity of a Complex ABCA4 Allele from Eastern Africa: Two Case Reports
PMID: 41063816 Gene:ABCA4 HGNC:34
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Early-Onset Stargardt Disease Caused by Homozygosity of a Complex ABCA4 Allele from Eastern Africa: Two Case Reports
PMID: 41063816
Gene: ABCA4
HGNC ID: 34
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa
PMID: 18334942
Gene: ABCA4
HGNC ID: 34
Case#: patient 33, male, Spanish
DiseaseAssertion: STGD
FamilyInfo: Figure 1. Both parents and two siblings of the proband were heterozygous for ABCA4 c.5413A>G allele. Sister affected despite heterozygosity.
CasePresentingHPOs: HP:0007663, HP:0030786, HP:0007722
CaseHPOFreeText: myopia, astigmatism, opafication of posterior pole of lens, hyperpigmentation, a few central yellowish flecks, shallow peripheral scotomas in both eyes, full-field ERG response showed slightly reduced—but still within the normal range—amplitudes for rod, mixed cone-rod, cone single flash, and cone flicker, respectively.
CasePreviousTesting: n/a
GenotypingMethod: microarray
PreviouslyPublished: 11385708, 12442277
Variant: ABCA4 p.Asn1805Asp (c.5413A>G)
gnomAD: 0.000009292 https://gnomad.broadinstitute.org/variant/1-94014590-T-C?dataset=gnomad_r4
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Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa
PMID: 18334942
Gene: ABCA4
HGNCID: 34
Case#: patient 26, female, Spanish
DiseaseAssertion: early onset RP
FamilyInfo: Figure 1. One brother homozygous for ABCA4 c.5413A.G allele, parents and one brother heterozygous for ABCA4 c.5413A>G allele. All three brothers and father carriers of p.Cys948Tyr allele on the CRB1 gene. Mother heterozygous for p. Trp822ter (c.2465G>A)
CasePresentingHPOs: HP:0000662, HP:0001133, HP:0007663,
CaseHPOFreeText: hyperopia, astigmatism, nystagmus, roundish pigments distributed across entire retina including peripheral retina, posterior pole, and macular region, filiform constriction on retinal vessels.
CasePreviousTesting: N/A
GenotypingMethod: Microarray
PreviouslyPublished: 11385708, 12442277
Variant: ABCA4 p.Asn1805Asp (c.5413A>G)
gnomAD: 0.000009292 https://gnomad.broadinstitute.org/variant/1-94014590-T-C?dataset=gnomad_r4
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Atypical Retinitis Pigmentosa With Macular Sparing in a Patient With Compound Heterozygous ABCA4 Variants: A Case Report and Diagnostic Challenge
PMID: 41458191 Gene: ABCA4 HGNC: 34
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Quantitative Autofluorescence as a Clinical Tool for Expedited Differential Diagnosis of Retinal Degeneration
PMID: 25375877
Gene: ABCA4, RPGR
HGNC ID: 34, 10295
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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A Novel ABCA4 Mutation Associated with a Late-Onset Stargardt Disease Phenotype: A Hypomorphic Allele?
PMID: 28611652
Gene: ABCA4
HGNC ID: 34
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www.mdpi.com www.mdpi.com
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Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis
PMID: 36833411
Gene: ABCA4
HGNC ID: 34
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The third patient was a 27-year-old man who was the son of third-degree consanguineous parents.
Case#: Case 3, male, onset at 24yo, Italy
DiseaseAssertion: STGD1
FamilyInfo: third-degree consanguineous parents; both parents healthy heterozygous carriers of the ABCA4 variant
CasePresentingHPOs: HP:0000529, HP:0007754, HP:0000518
CaseHPOFreeText: progressive deterioration of vision at age 24. Bilateral macular dystrophy and diffuse lens opacities on ophthalmologic examination. OCT, ERG, and VEP consistent with Stargardt maculopathy.
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
Genotyping Method: NGS (custom enrichment panel), Illumina NextSeq550; variant confirmed by Sanger sequencing.
PreviouslyPublished: n/a
Variant: NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln), homozygous; rs1801581
ClinVar: Variation ID: 7913
CAID: n/a
SupplementalData: n/a
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Retinal findings in a patient with mutations in ABCC6 and ABCA4
PMID: 29765157
Gene: ABCA4
HGNC ID: 34
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ABCA4-retinopathy
Case#: 1 male, 24 years old, from consanguineous parents, Somali ancestry.
DiseaseAssertion: ABCA4-related retinopathy Stargardt disease
FamilyInfo: Single affected individual consanguineous parents, Somali ancestry. No additional information about family is provided in text.
CasePresentingHPOs: HP:0000572- reduced central vision, HP:0001102- Angioid streaks, HP:0007980- retinal pigment epithelium atrophy, HP:0007401- Macular atrophy, HP:0000630- Abnormal retinal arterial/arteriolar morphology
CaseHPOFreeText: Presents with reduced central vision, Fundus autofluorescence (FAF) showed angioid streaks, reduced signal in the central macula indicative of retinal pigment epithelium atrophy. Electrophysiological testing showed severe macular dysfunction with generalized retinal involvement.
CaseNotHPOs: HP:0200070- Peripheral retinal atrophy
CaseNotHPOFreeText: Peripheral retina appears unaffected after ultra-widefield FAF imaging
Genotyping Method: PCR-amplification and Sanger sequencing of ABCA4 on Exon 42, Stargardt/Macular dystrophy SmartPanel v5; Molecular Vision Laboratory, Hillsboro, Oregon tested DNA for mutations which confirmed findings of ABCA4, with no additional pathogenic mutations found.
PreviouslyPublished: PMID: 22261738, 1 male, 24 years old, from consanguineous parents, Somali ancestry presenting with reduced vision.
Variant: NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
ClinVar: Variation ID: 7888
CAID: N/A
SupplementalData: N/A
Tags
- Gene:ABCA4
- ClinVarID:7888
- DiseaseEntity:STGD1
- inferred_gene_hgnc:34
- PMID:29765157
- inferred_gene_source:hgnc_tag
- HGNC:34
- MacularAtrophy
- AlleleOrigin:Germline
- PreviousTesting
- DecreasedCentralVA
- InheritancePattern:AutosomalRecessive
- ClinGen ABCA4 Annotations
- Zygosity:Homozygous
- General
Annotators
URL
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Unusual clinical phenotype of Stargardt disease
PMID: 34008801
Gene: ABCA4
HGNC ID: 34
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Unusual clinical phenotype of Stargardt disease
PMID: 34008801
Gene: ABCA4
HGNC ID: 34
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Unusual clinical phenotype of Stargardt disease
PMID: 34008801
Gene: ABCA4
HGNC ID: 34
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort—Impact of Selected Deep Intronic Variants and Common SNPs
PMID: 28118664
Gene: ABCA4
HGNC ID: 34
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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A 19-year-old female
Case#: 19 year old woman
DiseaseAssertion: Stargardt disease (STGD)
FamilyInfo: no family history of ocular disease
CasePresentingHPOs:HP:0025158
CaseHPOFreeText:20/25 in the right eye and 20/25-1 in the left eye, small irregular perifoveal lesions of both increased and decreased autofluorescence
CaseNotHPOs:na
CaseNotHPOFreeText:na
Genotyping Method: next gen sequencing
PreviouslyPublished: na
Variant: c.6079C > T, p.(Leu2027Phe) c.4139C > T, p.(Pro1380Leu)
ClinVar: not found not found
CAID: not found not found
SupplementalData: “black shadow” in the right eye after getting hit by a volley ball
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Superotemporal predisposition to traumatic subretinal fibrosis in Stargardt disease: A case report
PMID:39917552
Gene: ABCA4
HGNC ID: 34
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus
PMID: 10874631
Gene: ABCA4
HGNC ID: 34
Case#: patient 34, female
DiseaseAssertion: RP19
FamilyInfo: paternal first cousin with STGD, healthy father heterozygous for 1938-1 G>A splice mutation, mother homozygous for normal allele
CasePresentingHPOs: HP:0000662, HP:0007663, HP:0007737, HP:0001133
CaseHPOFreeText: choriocapillaris atrophy, severe concentric reduction of the visual field, abrogation of rod function
Genotyping Method: PRISMTM Ready Reaction Sequencing Kit on an automatic fluorometric DNA sequencer
PreviouslyPublished: N/A
Variant: NM_000350.3(ABCA4):c.1938-1G>A
ClinVar: 99106 https://www.ncbi.nlm.nih.gov/clinvar/variation/99106/?term=%22ABCA4%22%5BGENE%5D+AND+%22(c.1938-1G%3EA)%22%5BVARNAME%5D
gnomAD: 0.000002488 https://gnomad.broadinstitute.org/variant/1-94060760-C-T?dataset=gnomad_r4
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Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus
PMID: 10874631
Gene: ABCA4
HGNC ID: 34
Case#: patient 34, female
DiseaseAssertion: STGD
FamilyInfo: paternal first cousin with RP19, healthy father heterozygous for 1938-1 G>A splice mutation
CasePresentingHPOs: HP:0007663, HP:0000608, HP:0000603,
CaseHPOFreeText: yellowish flecks
Genotyping Method: PRISMTM Ready Reaction Sequencing Kit on an automatic fluorometric DNA sequencer
PreviouslyPublished: N/A
Variant: NM_000350.3(ABCA4):c.1938-1G>A
ClinVar: 99106 https://www.ncbi.nlm.nih.gov/clinvar/variation/99106/?term=%22ABCA4%22%5BGENE%5D+AND+%22(c.1938-1G%3EA)%22%5BVARNAME%5D
gnomAD: 0.000002488 https://gnomad.broadinstitute.org/variant/1-94060760-C-T?dataset=gnomad_r4
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Retinal Phenotypes in Patients Homozygous for the G1961E Mutation in the ABCA4 Gene
PMID: 22661473
Gene: ABCA4
HGNCID: HGNC:34
Stage I disease was characterized by central macular atrophy with parafoveal or perifoveal flecks. Where flecks were more numerous and extended anterior to the vascular arcades and/or nasal to the optic disc, then patients were classified as having stage II disease. Although partial resorption of flecks may be present in this stage, more complete resorption of flecks was indicative of stage III disease with choriocapillaris atrophy also within the macula. Widespread RPE and chorioretinal atrophy throughout the fundus defined stage IV disease.27 Based on this classification system, the patients in our study were subdivided into 2 groups, that is those with milder disease (stage I or II) and those with more severe disease (stage III or IV) phenotypes.
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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The proband of Family #1 (Patient #1, II:1 in pedigree Figure 1A)
Case#: Male, Family #1, Patient #1, II:1 in pedigree
DiseaseAssertion: Hypomorphic Stargardt disease
FamilyInfo: Paternal female cousin also has hypomorphic Stargardt disease and both of them carry the complex allele p.[L541P; A1038V] and p.N1868I. Additionally, their paternal aunt was diagnosed with Stargardt disease. This information can be found on Fig.1.
CasePresentingHPOs: HP:0000622, HP:0025010
CaseHPOFreeText: This proband developed blurred vision at age 30. The foveal atrophy affects the left eye. In the first visit at 33.9 years old patient presents with 20/25-3 Snellen VA OD, 20/70-2 Snellen VA OS, 0.16 LogMAR VA OD, 0.58 LogMAR VA OS, and stage 1. In the last visit at age 40.7, the patient had a 20/40-2 Snellen VA OD, a 10/80-1 Snellen VA OS, 0.34 LogMAR VA OD, 0.92 LogMAR VA OS, and was now in stage 2. In a Goldmann Visual Field test, they found central scotomas II4e; mild-moderate constriction II2e.
CaseNotHPOs: N/a
CaseNotHPOFreeText: The proband maintained some relative foveolar sparing in his right eye and had a BCVAs of 20/4022 (test done at 40 years old).
Genotyping Method: Genetic testing was performed at Columbia University. It was not stated which method this proband underwent, so the genetic testing could have been one of the following: "The entire ABCA4 gene locus was sequenced in 17 patients; the ABCA4 gene, including all exons and intron/exon boundaries were sequenced in 4 patients. In the remaining 6 cases representing family members, only targeted testing was performed."
PreviouslyPublished: N/a
**Variant: ** M1) NM_000350.3(ABCA4):c.5603A>T M2) NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
ClinVar: M1) 99390 M2) 99067
CAID: N/a
gnomAD: M1) The highest minor allele frequency was 0.05787 (https://www.ncbi.nlm.nih.gov/clinvar/variation/99390/) M2) The highest minor allele frequency was 0.00017 (https://www.ncbi.nlm.nih.gov/clinvar/variation/99067/)
SupplementalData: Table 1. provided patient information for those with p.N1868I ABCA4 Stargardt disease and the associated ABCA4 mutations. Fig.1. shows the pedigrees of the families. Fig.3. shows Macular SD-OCT line profiles for some of the patients. Table 2. describes the onset/symptoms of the patients with p.N1868I ABCA4 Stargardt Disease. Table 3. shows Visual Acuity and Stage at Baseline and Most Recent Follow-up in Patients With p.N1868I ABCA4 Stargardt Disease. Fig.4. shows BCVA better eye vs Duration since first examination for the patients. Table 4. shows clinical findings in the patients.
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Case#: Female, 6 years old, presenting with vision loss and behavioral changes.
Disease Assertion: After testing she was diagnosed with Stargardt disease
FamilyInfo: No family history of vision loss in childhood
CasePresentingHPOs: HP:0000572, HP:0000708, HP:0007988, HP:0008001, HP:0030609
CaseHPOFreeText: Showed changes in behavior through increased reliance on parents, and "Over the past six months, she had become increasingly emotional, anxious, frustrated, with difficulty concentrating on simple tasks". Additionally, beyond just the visual loss, she presented with 20/200 OU on her visual acuity test, as well as 1/14 Ishihara color plates with either eye. She also would overlook the top of objects, showed retinal arteriolar narrowing, had degeneration in the ellipsoid zone, and multiple hyperreflective granular deposits.
CaseNotHPOs: HP:0000648, HP:0000486, HP:0000639, HP:0000613, HP:0001336, HP:0011145 (just seizures in general, this was the closest I could find)
CaseNotHPOFreeText: Beyond the HPOs above, she also demonstrated a lack of seizures and had no other neurologic dysfunction. Additionally, she demonstrated brisk pupillary responses without paradoxical pupillary constriction to darkness. She also had normal results for the slip lamp biomicroscopy and tonometry.
CasePreviousTesting: Previously tested for myoclonus, seizures, and neurologic dysfunction with no history of any (did not describe the testing methods for such).
Genotyping Method: Although the genetic testing came up negative in relation to neuronal ceroid lipofuscinosis and the mutations associated, Stargardt disease was confirmed through whole genome sequencing. This revealed "compound heterozygosity for 2 pathogenic variants in the ABCA4 gene (c.3007 C > T p.Q1003X and c768 G > T PV256 = )".
Previously Published: n/a
Variant: NM_000350.3(ABCA4):c.3007C>T (p.Gln1003Ter) & NM_000350.3(ABCA4):c.768G>T (p.Val256=)
ClinVarID: 4538557 & 99505
CAID: n/a
gnomAD: For the first ID the data for this one was absent from gnomAD (https://www.ncbi.nlm.nih.gov/clinvar/variation/4538557/?term=%22NM_000350.3(ABCA4)%3Ac.3007C%3ET+(p.Gln1003Ter)%22%5BVARNAME%5D). While the other ID had the minor allele frequency of 0.00009 (highest compared to others available) (https://www.ncbi.nlm.nih.gov/clinvar/variation/99505/?term=%22NM_000350.3(ABCA4)%3Ac.768G%3ET%22%5BVARNAME%5D+AND+%22(p.Val256%3D)%22%5BVARNAME%5D)
Supplemental Data: Introduction was section in this article that discusses symptoms present as well as the re-diagnosis of Stargardt after the initial incorrect diagnosis of Batten disease. Additionally, Fig.1, Fig.2, and Fig.3 showed some of the phenotypes that appeared with this patient's condition.
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Bilateral visual loss, behavioral changes, and overlooking in a young child with stargardt disease: Neurodiagnostic considerations
PMID: 35112029
Gene: ABCA4
HGNCID: HGNC:34
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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The proband
Case#:case 1 II:4
DiseaseAssertion: Stargardt disease (STGD1)
FamilyInfo: mother has identical phenotype as proband, dad and sister asymptomatic, brother was symptomatic at 8 years old, other brother symptomatic at 15 years old.
CasePresentingHPOs: HP:0000007
CaseHPOFreeText: at age 50, with central visual imparement in right eye, 20/40 right, 20/20 left, linear and branching hyperautofluorescent subretinal deposits and extrafoveal RPE atrophy in both eyes,
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
Genotyping Method:
PreviouslyPublished: n/a
Variant: c.6031_6044delins18M/p.(Ile2003LeufsTer41)
ClinVar: not found
CAID: not found
SupplementalData:
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Phenotype–genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion–insertion variant causing a splicing defect
PMID: 32627976
Gene: ABCA4
HGNC ID: 34
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Disruption in Bruch membrane in patients with Stargardt disease
PMID: 22060670
Gene: ABCA4
HGNC ID: 34
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease
PMID: 25922843 Gene: ABCA4 HGNCID: HGNC:34
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Double hyperautofluorescent ring on fundus autofluorescence in ABCA4
PMID: 28726568
Gene: ABCA4
HGNC ID: 34
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ABCA4
Case#: 1 male, 6 years old, from Taiwanese and Korean decent.
DiseaseAssertion: ABCA4-related retinopathy Stargardt disease
FamilyInfo: Single affected individual. Paternal uncle presented with Stargart disease previously, and Taiwanese and Korean descent underwent genetic testing to identify two pathogenic variants in the ABCA4 gene. One of the variants found was the same ABCA4 variant from the originally affected individual. No additional family information is provided in text.
CasePresentingHPOs: HP:0000529 - progressive visual loss, HP:0025010 - Foveal atrophy, HP:0000603 - Central scotoma, HP:0007663 - Decreased visual acuity, HP:0030602 - Abnormal fundus autofluorescence imaging, HP:0007984 - ERG: Reduced dark-adapted b-wave amplitude, HP:0000512 - Abnormal electroretinogram, HP:0020032 - Hyperreflective retinal dots on OCT
CaseHPOFreeText: peripapillary sparing was observed on fundus autofluorescence imaging.
CaseNotHPOs: HP:0012045 - Retinal flecks
CaseNotHPOFreeText: N/A
Genotyping Method: Genetic testing was used and after sequencing two variants were found on the ABCA4 gene.
PreviouslyPublished: N/A
Variant: NM_000350.3(ABCA4):c.3523-2A>G
Variant: NM_000350.3(ABCA4):c.2249T>C (p.Leu750Pro)
ClinVar: Variation ID: 866764
ClinVar: Variation ID: 417984
CAID: N/A
SupplementalData: N/A
Tags
- MultipleGeneVariants
- Gene:ABCA4
- DiseaseEntity:STGD1
- inferred_gene_hgnc:34
- inferred_gene_source:hgnc_tag
- HGNC:34
- ClinVarID:417984
- MacularAtrophy
- PeripapillarySparing
- FundusAutofluorescence
- FamilyInfo
- AlleleOrigin:Germline
- Zygosity:CompoundHeterozygous
- PreviousTesting
- DecreasedCentralVA
- InheritancePattern:AutosomalRecessive
- ClinVarID:866764
- DecreasedERGResponses
- Scotoma
- ClinGen ABCA4 Annotations
- PMID:28726568
- General
Annotators
URL
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journals.sagepub.com journals.sagepub.com
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We report an 11-year-old girl
Case#: 11 year old female
DiseaseAssertion: Stargardt’s Disease
ParentalTesting: She was the product of an uncomplicated pregnancy born to a healthy Filipino mother and Italian/Irish father with no known family history of ocular disease. The mother and father were asymptomatic but not examined. Segregation analyses showed that both parents are asymptomatic carriers.
CasePresentingHPOs: HP:0007754, HP:0011462, HP:0008035
CasePhenotypeFreeText: The ABCA4 gene, when mutated, results in a spectrum of retinal degeneration, including Stargardt macular dystrophy, fundus flavimaculatus, autosomal recessive retinitis pigmentosa, and cone-rod dystrophy (1). Over 800 disease-associated ABCA4 gene mutations have been reported.
CaseNotHPOs: N/A
CaseNotPhenotypeFreeText: N/A
CasePreviousTesting: The proband underwent a full consultative ophthalmic examination at the Ocular Genetics Clinic at Wills Eye Hospital, including visual acuity, slit-lamp, and dilated fundus examination. Fundus autofluorescence and spectral-domain optical coherence tomography (Spectralis; Heidelberg Engineering), Goldmann visual field (Octopus 900 perimeter; Haag-Streit International), and intravenous fluorescein angiography were obtained. Full-field electroretinogram (Espion; Diagnosys LLC) and multifocal electroretinogram (Veris V.6.4.3; EDI Inc.) were performed in accordance with the International Society of Clinical Electrophysiology and Vision standards. Best-corrected visual acuity was 20/125 in the right eye and 20/200 in the left eye. The patient demonstrated eccentric fixation. Pupillary responses were normal. Slit-lamp examination was normal. Fundus examination revealed healthy optic nerves and retinal blood vessels, bilateral macular geographic pigmentary stippling with subretinal flecks in and around this area, and a blunted internal limiting membrane reflex (Fig. 1). Peripheral retina was normal.
GenotypingMethod: Genotyping microarray chips for ABCA4 can identify >98% of the most common mutations. In this report, we describe 2 novel ABCA4 variants in a patient with Stargardt disease. Bioinformatic and in silico analysis of the functional consequences of these variants provided compelling evidence for pathogenicity.
Variant: c.850_857delATTCAAGA and c.6184_6187delGTCT
CAID: CA10604079 and CA10604078
MultipleGeneVariants: N/A
PreviouslyPublished: N/A
AdditionalInfo: Bioinformatic assessment of the c.850_857delATTCAAGA mutation showed that it resulted in a truncated 317 amino acid polypeptide, devoid of several essential domains of the ABCA4 transporter. The c.6184_6187delGTCT mutation led to a premature stop codon at the C-terminal end of the protein, resulting in a loss of a total of 161 amino acid residues. Although less than 7% of the protein was absent, the important VFVNFA motif, present within the last 30 amino acids of the NBD2 domain, was deleted (Fig. 2). This motif is known to be critical to ABCA4 protein function, is highly conserved among members of the ABCA transporter subfamily, and has also been linked to Tangier disease in the ABCA1 protein (9). Removal of this motif in ABCA4 leads to a loss of retinal stimulated ATPase in vitro and energy transduction of the transporter (9, 10). Protein modeling predicted a loss of an essential β-sheet, which significantly altered its structure. The NBD domains are sites of ATP hydrolysis that provide energy for transport of R-PE through rod outer segment membranes. Enzymatic studies suggest that the NBD2 domain in particular provides energy necessary for translocation of retinal derivatives generated in the visual cycle. The structural changes in NBD2 would affect ABCA4 transporter’s ability to transport retinoids, leading to accumulation of cytotoxic lipofuscin in RPE cells and ultimately photoreceptor cell death.
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Fine central macular dots associated with childhood-onset Stargardt Disease
PMID: 24020726
Gene: ABCA4
HGNC ID: 34
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Novel compound heterozygous mutations in ABCA4 in a Chinese pedigree with Stargardt disease
PMID: 28050124
Gene: ABCA4
HGNC ID: 34
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Hyperreflective Outer Nuclear Layer as a Biomarker of Early Stargardt Disease. A Case Report
PMID: 40948369
Gene: ABCA4
HGNC ID: 34
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Photorefractive keratectomy in a patient with Stargardt disease: Case report
PMID: 40401218
Gene: ABCA4
HGNC ID: 34
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23-year-old female with a history of STGD oculus uterque (OU) and severe myopia OU who presented for refractive surgery evaluation. The patient’s STGD was double allele ABCA4 genotype proven with two different mutations, p.Arg2107Cys:c.6319C>T and p.Gly607Arg:c.1819G>A
Case#: Patient 23, Female
DiseaseAssertion: STGD
FamilyInfo: Not evaluated
CasePresentingHPOs: HP:0000609, HP:0012632, HP:0007906
CaseHPOFreeText: The patient also had a history of bilateral optic nerve hypoplasia, labile intraocular pressure (IOP), and ocular hypertension without glaucoma.
CaseNotHPOs: n/a
CaseNotHPOFreeText:n/a
Genotyping Method: Not listed
PreviouslyPublished: n/a
Variant: p.Arg2107Cys:c.6319C>T and p.Gly607Arg:c.1819G>A
ClinVar: 635988, 99087
CAID: CA956906, CA226936
SupplementalData: Phenotype shown in case report with continued treatment below
Tags
- Gene:ABCA4
- ClinVarID:635988
- PMID:40401218
- inferred_gene_hgnc:34
- DiseaseEntity:STGD1
- inferred_gene_source:hgnc_tag
- HGNC:34
- BilateralOpticNerveHypoplasia
- CAID:CA226936
- ClinGen ABCA4 Annotations
- CAID:CA956906
- LabileIntraocularPressure
- OcularHypertension
- Zygosity:Homozygous
- InheritancePatter:AutosomalRecessive
- General
Annotators
URL
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Focal choroidal excavation in Stargardt’s dystrophy
PMID:328843395
Gene: ABCA4
HGNC ID: 34
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Novel mutations in c2orf71 causing an early onset form of cone-rod dystrophy: A molecular diagnosis after 20 years of clinical follow-up
PMID: 31819343
Gene: ABCA4
HGNC ID: 34
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
PMID: 28600779
Gene: ABCA4
HGNCID: HGNC:34
MonDO:
Case: 16N-0520, Male, Saudi Arabia, 1 yo
DiseaseAssertion:
FamilyInfo: Consanguineous parents, positive family history
CasePresentingHPOs: HP:0000618, HP:0000648 (Blindness, Optic atrophy)
CaseHPOFreeText: Coloboma of eye
GenotypingMethod: WES, analysis of Vision Panel, constituent genes are described in PMID 26112015.
SupplementalData: Supplemental table
Variant: ABCA4:NM_000350:exon49:c.6764G>T:p.S2255I
CAID: CA202970
gnomAD: 0.4845 (gnomAD v4.0.0, Grpmax Filtered AF African/African-American) https://gnomad.broadinstitute.org/variant/1-93996161-C-A?dataset=gnomad_r4
VariantEvidence: Authors classified as VOUS. But later downgraded to LB in PMID 31130284.
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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From Clinical Diagnosis to the Discovery of Multigene Rare Sequence Variants in Pseudoxanthoma elasticum: A Case Report
PMID: 34513887
Gene: ABCA4
HGNC ID: 34
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies
PMID: 34440443
Gene: ABCA4
Disease: Retinal Dystrophies
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www.frontiersin.org www.frontiersin.org
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Case report: Disease phenotype associated with simultaneous biallelic mutations in ABCA4 and USH2A due to uniparental disomy of chromosome 1
Case#: Patient 9, female, Mexican, symptoms onset 6 yrs. ago, Mexico City
DiseaseAssertion: IRD
FamilyInfo: parents are non-sanguineous and asymptomatic, they also denied any history related to ocular diseases. Information disclosed that the mother had one stillbirth and three miscarriages, but denied any related diseases/health issues to this child.
CasePresentingHPOs: HP:00305, HP:00080, HP:0000493, HP:0025586, HP:0030329, HP:0012713
CaseHPOFreeText: Proband presented with light sensitivity as well as adaptation difficulties when going from dark-to-light. Right eye was 20/200 and left eye was 20/160 from the visual acuity test. Macular bull's eye appearance. Subnormal rod and cone responses. Peripapillary sparing retina.
CaseNotHPOs: HP:0007737, HP:0000750, HP:0000510
CaseNotHPOFreeText: No afferent pupillary defect. No anomalies in anterior segment.
Genotyping Method: QIAamp DNA Blood Kit was used to extract gDNA and quantification/purity of the sample was found using a NanoDrop 2000 spectrophotometer. 293 genes were sequenced. gDNA was sequenced via Illumina technology. Following, certain sequences were additionally analyzed against a reference genome in order to identify changes and interpret.
PreviouslyPublished: n/a
Variant: NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg), NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del)
ClinVar: 99332, 99340
CAID: n/a
SupplementalData: Phenotype data in results section as well as figures 1, 2, and 3 showing phenotypic testing results.
Tags
- Gene:ABCA4
- DiseaseEntity:IRD
- (2) FundusAutofluorescence
- inferred_gene_hgnc:34
- HGNC:34
- inferred_gene_source:hgnc_tag
- ClinVarID:99340
- FamilyInfo
- AlleleOrigin:Germline
- (3) PeripapillarySparing
- PreviousTesting
- InheritancePattern:AutosomalRecessive
- (7) Bull’sEyeMaculopathy
- ClinVarID:99332
- ClinGen ABCA4 Annotations
- (1) MacularFlecks
- Zygosity:Homozygous
- DiseaseEntity:STGD
Annotators
URL
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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A Case Report of Pseudoxanthoma Elasticum with Rare Sequence Variants in Genes Related to Inherited Retinal Diseases
PMID: 34679498
Gene: ABCA4
HGNC ID: 34
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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ABCA4-associated retinopathy complicated by didanosine-associated retinal toxicity
PMID: 41561667
Gene: ABCA4
HGNC ID: 34
Case#: patient 66, male, Italy
DiseaseAssertion: STGD
FamilyInfo: N/A
CasePresentingHPOs: HP:0000505, HP:0000551, HP:0000546
CaseHPOFreeText: best-corrected visual acuity (BCVA) was 20/400 in both eyes, mild myopia, both eyes were pseudophakic, extensive bilateral chorioretinal atrophy involving both the posterior pole and the peripheral retina, widespread mottled hypoautofluorescence in the mid-periphery, along with pronounced macular hypoautofluorescence, significant central retinal thinning, an enlarged foveal depression, outer retinal hyper-reflectivity associated with extensive atrophy of both the RPE and the underlying choroid, dense epiretinal membrane (ERM) was also identified in the right eye, large central hypofluorescent zone involving the macular region and extending beyond the vascular arcades
CasePreviousTesting: n/a
GenotypingMethod: Next-Generation Sequencing
PreviouslyPublished: n/a
Variant: c.1714C > T p. (Arg572∗)
ClinVar: 620085 https://www.ncbi.nlm.nih.gov/clinvar/variation/620085/?term=620085%5BVariation+ID%5D
gnomAD: 0.000001859 https://gnomad.broadinstitute.org/variant/1-94063158-G-A?dataset=gnomad_r4
Variant: c.2461T > A p. (Trp821Arg)
ClinVar: 99136 https://www.ncbi.nlm.nih.gov/clinvar/variation/99136/?term=99136%5BVariation+ID%5D
gnomAD: 0.000008054 https://gnomad.broadinstitute.org/variant/1-94055237-A-T?dataset=gnomad_r4
Variant: c.4417C>А p. (Leu1473Met)
ClinVar: 546600 https://www.ncbi.nlm.nih.gov/clinvar/variation/546600/?term=546600%5BVariation+ID%5D
gnomAD: 0.00005762 https://gnomad.broadinstitute.org/variant/1-94029567-G-T?dataset=gnomad_r4
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Antioxidant Saffron and Central Retinal Function in ABCA4-Related Stargardt Macular Dystrophy
PMID: 31618812
Gene: ABCA4
HGNCID: HGNC:34
Patients: a group of 31 Stargardt disease/fundus flavimaculatus patients (14 males, 17 females) with an established ABCA4 genotype, accumulated prospectively over an interval of 12 months at the outpatient service of the Institution, were included in this study.
MonDO: MONDO:0019353
CaseInfo: Case 11, Male, 12yo. Compound het c.5882G > A; p.Gly1961glu (Pathogenic in ClinVar); c.6764G > T,p.Ser2255Ile
DiseaseAssertion: Stargardt disease/fundus flavimaculatus
FamilyInfo: Not provided
CasePresentingHPOs: HP:0007769, HP:0000608, HP:0012045 (Peripheral retinal degeneration, Macular degeneration, Retinal flecks)
CaseHPOFreeText: cone-rod pattern of retinal dysfunction
GenotypingMethod: Mutation screening was performed by single-strand conformation polymorphism (SSCP) strategy of the whole coding region of ABCA4. Direct sequencing was also performed on siblings of probands and parents, when available, to confirm segregation of alleles.
MultipleGeneVariants: (1) GeneName: ABCA4
(1)Variant: c.5882G > A; p.Gly1961glu
(1) CAID: CA119132
(1) gnomAD: 0.01250 (gnomadv4.0.0, Grpmax Filtering AF, South Asian) https://gnomad.broadinstitute.org/variant/1-94008251-C-T?dataset=gnomad_r4
(2) GeneName: ABCA4
(2) Variant: c.6764G>T (p.Ser2255Ile)
(2) CAID: CA202970
(2) gnomAD: 0.4845 (gnomadv4.0.0, Grpmax Filtering AF, African/African-American) https://gnomad.broadinstitute.org/variant/1-93996161-C-A?dataset=gnomad_r4
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy
PMID: 24444108
Gene: ABCA4
HGNC ID: 34
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journals.healio.com journals.healio.com
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Novel Heterozygous Variant in RP1L1 Gene With Retinitis Pigmentosa Phenotype: A Case Report
PMID: 41201214
Gene: ABCA4
HGNC ID: 34
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease
PMID: 33909047
Gene: ABCA4
HGNCID: HGNC:34
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Stargardt Disease with Preserved Central Vision: identification of a putative novel mutation in ATP-binding cassette transporter gene
PMID: 20163366
Gene: ABCA4
HGNC ID: 34
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Different clinical expressions in two families with Stargardt’s macular dystrophy (STGD1)
PMID: 11594993
Gene: ABCA4
HGNC: 34
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Local file Local file
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stargardt Disease Caused by a Rare Combinationof Double Homozygous Mutations
PMID: 24509150
Gene: ABCA4
HGNC ID: 34
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis
PMID:31836589
Gene: ABCA4
HGNC ID: 34
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
Analysis of ABCA4 variants in 150 families with Stargardt disease. Most of which were of northern or central European ancestry. For comparison, 220 racially matched individuals with no personal history or known family history of STGD served as controls (Anderson et al. 1995; Allikmets et al. 1997b).
PMID: 9973280
Gene: ABCA4
HGNCID: HGNC:34
GenotypingMethod: combined SSCP and heteroduplex analyses of all 50 exons of ABCA4, Sanger sequencing
Pedigree AR417: onset at 8 years 2 segregations, 2 out of 3 offspring affected by STGD, parents and grandmother unaffected Variant: G1961E, A1038V CAID: CA119132, CA119135)
Pedigree AR427: onset at 12 years 1 segregation, 1 out of 2 offspring affected by STGD, parents unaffected Variant: G1961E, C75G CAID: CA119132, CA226985
Pedigree AR370: onset at 13 years 1 segregation, 1 out of 3 offspring affected by STGD, parents and grandparents unaffected Variant: G1961E, C1490Y CAID: CA119132, CA227198
Pedigree AR 218: onset at 14 years family history of AMD, was first reported by Anderson et al. [1995] Variant: G1961E, 2160+1G>C CAID: CA119132, CA226984
Pedigree AR 373: onset at 19 years 2 segregations, 2 out of 3 offspring affected by STGD, parents and grandparents unaffected Variant: G1961E, 4253+5G>T CAID: CA119132, CA227174
Pedigree AR 274: onset at 20 years 1 segregation, 1 out of 4 siblings affected by STGD, parents and grandparents unaffected Variant: G1961E, A1038V CAID: CA119132, CA119135
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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The variant was c.52C>T (p.Arg18Trp).
PMID:39398711
Gene: ABCA4
HGNC ID: 34
Case Annotation Template
Case#: 19-year-old male
DiseaseAssertion: Stargardt disease 1 (STGD1)
FamilyInfo: No family history of eye disease reported. Autosomal recessive inheritance consistent with STGD1. Homozygous ABCA4 variant identified.
CasePresentingHPOs: DecreasedCentralVA, MacularAtrophy, MacularFlecks, PeripapillarySparing, OpticNervePallor
CaseHPOFreeText: Five-year history of progressive bilateral central vision loss, worse at near. Alternating exotropia measuring 16 prism diopters in all gazes OU. Best corrected visual acuity 20/200 OU. Fundus examination revealed pigment deposition and macular mottling. Fundus autofluorescence showed central decreased autofluorescence surrounded by increased autofluorescence. Fluorescein angiography demonstrated dark choroid. OCT showed loss of the central ellipsoid zone with hyperreflective deposits. Multifocal ERG demonstrated significant functional loss.
CaseNotHPOs: NightBlindness
CaseNotHPOFreeText: Patient denied nyctalopia, photophobia, or flashes. Color vision normal on Ishihara testing.
Genotyping Method: Genotyping Method: Next-generation sequencing (NGS) with deletion/duplication analysis (Invitae Corporation).
PreviouslyPublished: N/A
Variant: ABCA4 c.52C>T (p.Arg18Trp)
ClinVar: ClinVarID:7899
CAID: N/A
SupplementalData: N/A
Tags
- MultipleGeneVariants
- Gene:ABCA4
- DiseaseEntity:STGD1
- inferred_gene_hgnc:34
- HGNC:34
- inferred_gene_source:hgnc_tag
- MacularFlecks
- MacularAtrophy
- PeripapillarySparing
- ocular disease
- AlleleOrigin:Germline
- ClinVarID:7899
- DecreasedCentralVA
- InheritancePattern:AutosomalRecessive
- ClinGen ABCA4 Annotations
- exotropia
- OpticNervePallor
- Zygosity:Homozygous
- stargardt disease
Annotators
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