Echocardiographic characteristics of Slovenian probands with MYBPC3:c.913_914del (18) and those with other LP/P MYBPC3 variants (21)
Table 3 compares heart measurements between probands with MYBPC3:c.913_914del and those with other MYBPC3 variants. These measurements help evaluate how the variants relate to heart structure and function
Clinical characteristics of Slovenian probands with MYBPC3:c.913_914del (18) and those with other LP/P MYBPC3 variants (21)
Table 2 compares clinical symptoms and characteristics between 18 probands with MYBPC3:c.913_914del and 21 probands with other likely pathogenic or pathogenic MYBPC3 variants. The differences shown were not statistically significant.
A potential role for α-actinin in inside-out αIIbβ3 signaling
PMID: 20940419
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: No proband or variant information; however, there is potential experimental assay information
Inhibition of Platelet Aggregation byAbciximab but Not by Aspirin Can BeDetected by a New Point-of-Care Test, the Hemostatus
PMID: 10418797
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
PreviouslyPublished: The GT patient in this article has been previously published in this PMID: 2180491
Successful Management of Acute Catastrophic Juvenile Vaginal Bleeding in Glanzmann's Thromboasthenia by Uterine Tamponade: A Case Report and Review of The Literature
PMID: 22928124
Genes: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article reports a case of acute catastrophic vaginal bleeding in a girl, who was diagnosed with GT and responded to uterine tamponade for acute control of vaginal bleeding; however, no variants in ITGA2B and/or ITGB3 are mentioned in this article therefore we have insufficient evidence
Platelet Glycoprotein IIb/IIIa Receptors and Glanzmann’s Thrombasthenia Deborah L. French and Uri SeligsohnFrom the Mount Sinai School of Medicine (D.L.F.), New York, NY, and The Chaim Sheba Medical Center (U.S.), Tel-Hashomer, Israel.
PMID: 10712380
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This review mentions many variants in ITGA2B and ITGB3; however, there are no probands to tie these variants to therefore there is insufficient evidence
Inherited bleeding disorders: disorders of plateletadhesion and aggregation
PMID: 9351872
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article is a review on GT
A simple, novel and robust test to diagnose type I Glanzmann thrombasthenia
PMID: 18450741
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InusufficientEvidence: This article used a bifunctional bioengineered disintegrin/alkaline phosphatase hybrid protein ErAPv to evaluate 14 consecutive cases of Glanzmann thrombasthenia and 20 normal healthy controls. Thererefore, GT probands are mentioned; however, no specific variants in ITGA2B and/or ITBG3 have been mentioned in these patients
A Rare Case of Bleeding Disorder: Glanzmann's Thrombasthenia
PMID: 29063905
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a case of an individual with Glanzmann thrombasthenia; however, no specific variants mentioned in proband.
Human IgG Monoclonal Anti-αIIbβ3-Binding Fragments Derived from Immunized Donors Using Phage Display
PMID: 11823541
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions 1 GT proband; however, variants in ITGA2B and/or ITGB3 are not mentioned.
Iraqi-JewishandArabpopulationsinIsrael
PMID: 2014236
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article does not mention specific case reports- rather, this article mentions two different populations harboring variants. I have annotated the 2 variants each cohort harbors
From thrombasthenia to next generation thrombocytopenia: Neonatal alloimmune thrombocytopenia induced by maternal Glanzmann thrombasthenia
PMID: 30216638
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions mothers with GT and their newborns. Table 1 shows very general/vague genetic data for the mothers, it is not easy to determine what the actual genetic defects are from Table 1; therefore, there is insufficient evidence
Allogeneic Hematopoietic Stem Cell Transplantation in Glanzmann Thrombasthenia Complicated by Platelet Alloimmunization
PMID: 21567370
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a proband with GT; however, no mention of the proband with variants in ITGA2B and ITGB3
The Role of Conserved Amino Acid Motifs within theIntegrinb3Cytoplasmic Domain in Triggering FocalAdhesion Kinase Phosphorylation*
PMID: 9065456
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions variants in ITGA2B and/or ITGB3; however, no specific GT probands are mentioned harboring these variants mentioned therefore there is insufficient evidence
Qualitative disorders of platelets and megakaryocytes
PMID: 16102044
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: This article mentions variants in ITGA2B; however, the variants are not linked to individuals bearing them therefore we have insufficient evidence
Platelet and granulocyte alloimmunisation in multitransfused Tunisian patients
PMID: 16104882
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: The purpose of our study was to determine the frequency of alloimmunisation against platelets and leukocytes in multiply transfused Tunisian patients; there are 3 GT probands in this article; however, no mention of variants in ITGA2B and/or ITBG3; therefore, we have insufficient evidence
A 10-Base-Pair Deletion in the Gene Encoding Platelet GlycoproteinIIb Associated with Glanzmann Thrombasthenia in a Horse
PMID: 17338169
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article discusses a 10 base pair deletion in GT; however, in a horse, not human therefore there is insufficient evidence
Glanzmann thrombasthenia detected because of knee hemarthrosis: a case report
PMID: 20736850
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a case report of an individual with GT; however, no variants in ITGA2B or ITGB3 are mentioned
Glanzmann'sThrombastheniaProposedOptimalManagementDuringSurgeryandDelivery
PMID: 12812388
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a 34 year old proband with GT; however, there is no mention of variants in ITGA2B and/or ITGB3 in the proband that is mentioned
Successful surgery using recombinant factor VIIa for recurrent, idiopathic nonulcer duodenal bleeding in a patient with Glanzmann's thrombasthenia
PMID: 12353868
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
Glanzmann's thrombasthenia in North Indians: Sub classification and carrier detection by flow cytometry
PMID: 19172516
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions individuals with GT; however, there are no variants in ITGA2B and/or ITGB3 mentioned here
Endometriosis in two sisters with Glanzmann's thrombasthenia
PMID: 19647234
Genes: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions two individuals with GT; however, there is no mention of variants in ITGA2B and/or ITGB3
Glanzmann's thrombasthenia and pregnancy: report of a case and literature review
PMID: 22384307
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a case report of an individual with GT however there are no variants in ITGA2B or ITGB3 mentioned
Inherited platelet disorders
PMID: 22726100
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This review mentions variants in ITGA2B and ITGB3; however, variants are not tied to specific probands therefore there is insufficient evidence
Glanzmann thrombasthenia: An update
PMID: 19854165
Genes: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article describes many variants in ITGA2B and ITGB3 however no probands to tie variants to therefore insufficient evidence
Hematological and surgical management in Glanzmann's thrombasthenia: A case report
PMID: 24739923
Gene: ITGA2B and/or ITGB3 (These genes may be involved since this patient has GT)
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a case report of an individual with Glanzmann thrombasthenia; however, there are no ITGA2B or ITGB3 variants in this proband
Norethisterone therapy for bleeding due to gastrointestinaltelangiectases in Glanzmann’s thrombasthenia
PMID: 9504647
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
Pyelolithotomy in a patient with Glanzmann thrombasthenia andantiglycoprotein IIb/IIIa antibodies: the shortest possibleduration of treatment with recombinant activated factor VII andplatelet transfusions
PMID: 12718376
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: Thus article mentions a Glanzmann thrombasthenia proband; however, no variants in ITGA2B and/or ITGB3 were reported in this patient
DDAVP-induced enhancement of platelet retention: Its dependence on platelet-von Willebrand Factor and the platelet receptor GP IIb/IIIa
PMID: 1499698
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient (29 years old); however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence. The aim of the present study was to investigate the mechanism by which DDAVP induces increased platelet adhesiveness, as measured in a platelet retention test.
Plat el et Vitro nec t in Receptor Exp res s ion Differentiates Iraqi - Jewi s h From Arab Patients With Glanzmann Thrombasthenia in Israel
PMID: 1949709
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article examined platelets of the Iraqi-Jewish and Arab Glanzmann thrombasthenia population; however, no specific proband information or variants in ITGA2B and/or ITGB3 were mentioned. This could be classified as "NoEvidence"; however, due to the fact the article mentioned two specific populations, I have noted it under "InsufficientEvidence"
Presentation and Pattern of Symptoms in 382 PatientsWith Glanzmann Thrombasthenia in Iran
PMID: 15389911
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article looks at the presentation and pattern of symptoms in 382 patients with GT. There are no variants associated with probands in ITGA2B and/or ITBG3
Use of rFVIIa in 4 children with Glanzmann thrombasthenia.
PMID: 17023825
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions individuals with GT; however, there is no mention of these individuals bearing variants in ITGA2B and/or ITBG3
Acute Epidural Hematoma in a PatientWith Glanzmann's Thrombasthenia—Case Report—
PMID: 21030808
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a 7 year old girl with GT; however, there are no variants in ITGA2B or ITGB3 mentioned in this article
Acquired thrombasthenia due to GPIIbIIIaplatelet autoantibodies in a 4-yr-old child
PMID: 15748238
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions proband with acquired thrombasthenia; however, there is no mention of variants in ITGA2B and/or ITGB3
Acquired thrombasthenia due to GPIIbIIIaplatelet autoantibodies in a 4-yr-old child
PMID: 16343278
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a 4 year old with acquired thrombasthenia; however, no variants in ITGA2B and/or ITGB3 are mentioned therefore there is insufficient evidence
PeriodontalManagementofGlanzmann'sThrombasthenia:Reportof3Cases
PMID: 8866321
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions 3 Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in these individuals; therefore, we have insufficient evidence
A Glanzmann’s mutation in β3 integrin specifically impairs osteoclast function
PMID: 11342577
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions variants in ITGA2B/ITGB3; however, there is no mention of individual(s) with GT therefore we have insufficient evidence
Characterization of the cDNA and genomic DNA sequence encoding for the platelet integrin alpha IIB and beta III in a horse with Glanzmann thrombasthenia
PMID: 22210999
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: This article mentions a variant in ITGA2B; however, it is examined in a horse not human
DentalConsiderationsforaGlanzmann'sThrombastheniaPatient:CaseReport
PMID: 8724714
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
Congenital disorders associated with platelet dysfunctions.
PMID: 18278172
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions Glanzamnnt thrombasthenia variants; however, these variants are not tied to individual probands
Hematuria: An uncommon presentation of Glanzmann's thrombasthenia—Lessons learnt
PMID: 20535297
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a case study of a 55 year old male with GT; however, no variants in ITGA2B/ITGB3 are presented here
First description of an IgM monoclonal antibody causingaIIbb3integrin activation and acquired Glanzmannthrombasthenia associated with macrothrombocytopenia
PMID: 30868743
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156, respectively as shown above
InsufficientEvidence: Article discusses case report; however, no variants were reported in either ITGA2B or ITGB3 among sequencing analysis for proband.
Enhanced potency of recombinant factor VIIa with increased affinity to activated platelets
PMID: 31549480
Gene: F8
InsufficientEvidence: This article mentions variants and patient tissue being used separately; however, does not tie them in together, without a variant to tie the proband to, it’s insufficient evidence.
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients
PMID:35614200
Gene: IDUA
Disease: MPS1
Inheritance: Autosomal recessive
A list of 11 IDUA variants identified in cases with MPS is included in Supplemental Table 6, but the variants are not linked to specific patients and are listed individually (not as genotypes). A page note has been added for each variant.
A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease A New Epidemiologic Picture
PMID: 26986123 Gene: von Willebrand factor HGNCID: 12726 Note: reported for group analysis with no associated probands/patient
Acquired Glanzmann thrombasthenia: From antibodies to anti-platelet drugs
PMID: 31010659
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156, respectively as shown above
InsufficientEvidence: This is a review article. There are no specific case reports; however, there are cited articles which may have GT probands states in them
PreviouslyPublished: PMIDs: 3015287, 2935559, 8982055, 12437677
A novel form of integrin dysfunction involving β1, β2, and β3 integrins
PMID: 12511588
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a proband with LAD-1 and GT like symptoms however no variants in ITGA2B and/or ITGB3 are mentioned
The role of platelets in venous thrombosis: a patient with Glanzmann's thrombasthenia and a factor V Leiden mutation suffering from deep venous thrombosis
PMID: 12871523
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
Colonoscopy polypectomy management in Glanzmann’s thrombasthenia
PMID: 21160656
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a proband with GT; however, no variants in ITGA2B and/or ITGB3 mentioned
Two Genetic Defects in αIIb Are Associated with Type I Glanzmann's Thrombasthenia in a Great Pyrenees Dog: A 14-base Insertion in Exon 13 and a Splicing Defect of Intron 13
PMID: 11105947
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: This article mentions two genetic defects in the ITGA2B gene; however, in dogs not GT human patients; therefore, we have insufficient evidence
Effect of Deletion of Glycoprotein IIb Exon 28 on the Expression of the Platelet Glycoprotein IIb/IIIa Complex
PMID: 1932748
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a different variants in ITGA2B/ITGB3; however, no GT probands are mentioned in this article harboring these variants
50-kD Integrin-Associated Protein Does Not Detectably Influence Several Functions of Glycoprotein IIb-IIIa Complex in Human Platelets
PMID: 7662966
Gene: ITGB3
HGNC: 6156
InsufficientEvidence: This article mentions a variant in ITGB3 (p.Ser752Pro); however, there is no GT proband mentioned who harbors this variant; therefore, there is insufficient evidence.
Note: This article mentions CHO and HEL cell expression studies; however, they are not testing the variant in these cell lines, so the experimental assay evidence does not apply in this situation
Multidisciplinary Clinical Management of a Localized Aggressive Periodontitis diagnosed in a Child with Glanzmann’s Thrombasthenia
PMID: 30397380
Gene: ITGA2B and/or ITGB3 (Proband presented with GT; therefore, these genes may involved
HGNC: 6138 and 6156
InsufficientEvidence: Proband with Glanzmann thrombasthenia described in this article; however, no variant is mentioned in this article
Cytoplasmic regions of the β3 subunit of integrin αIIbβ3 involved in platelet adhesion on fibrinogen under flow conditions
PMID: 12941045
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: This article does not have any GT case reports; however, this article references another article-- "In an earlier report, Chen et al. [14] described a patient with a variant of Glanzmann's thrombasthenia whose platelets failed to aggregate due to a S752→P mutation"
PreviouslyPublished: PMID: 1438206 and PMID: 8080992
Molecular Pathology of Rare Bleeding Disorders (RBDs) in India: A Systematic Review
PMID: 25275492
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article is a review, please check tables for previously published probands
PreviouslyPublished: Table 9 has previously published GT patients
Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models.
PMID: 21917754
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article is a review on GT. There are previously published variants and probands with GT mentioned, but no novel case reports presented here
Critical Role of β3 Integrin in Experimental Postmenopausal Osteoporosis† Haibo Zhao Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri, USASearch for more papers by this author Hideki Kitaura Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri, USASearch for more papers by this author Mark S Sands Department of Medicine, Washington University School of Medicine, St Louis, Missouri, USASearch for more papers by this author F Patrick Ross Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri, USASearch for more papers by this author Steven L Teitelbaum Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri, USASearch for more papers by this author Deborah Veis Novack MD, PhD Corresponding Author E-mail address: novack@wustl.edu Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri, USA Department of Medicine, Washington University School of Medicine, St Louis, Missouri, USAWashington University School of Medicine, 660 S. Euclid Avenue, Box 8301, St Louis, MO 63110, USASearch for more papers by this author
PMID: 16294265
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: This is a study of ITGAB variants on mice, not humans, therefore we have insufficient evidence; however, this article may be useful for experimental evidence
Glanzmann thrombasthenia in a 17‐year‐old Peruvian Paso mare
PMID: 21291483
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: This article mentions a variant in ITGA2B; however, in a horse not human
Antiplatelet antibodies in cases of Glanzmann's thrombasthenia with and without a history of multiple platelet transfusion
PMID: 20407646
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article studies the antiplatelet antibodies in 23 patients with GT who may have missense mutations; however, specific variants/mutations in ITGA2B and ITGB3 are not mentioned; therefore, we have insufficient evidence
Glanzmann'sthrombastheniawithmildvonWillebrand'sdisease
PMID: 8282841
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
Excessive Gingival Bleeding in Two Patients WithGlanzmann Thrombasthenia
PMID: 17539731
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions two GT case reports of individuals with excessive gingival bleeding; however, there was no mention of variants in ITGA2B and/or ITBG3 in these two probands discussed in the article therefore we have insufficient evidene
Glanzmann Thrombasthenia
PMID: 30855858
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156 respectively as shown above.
InsufficientEvidence: This is a summary and review of Glanzmann thrombasthenia. This article cites other articles which may mention GT patients/case reports.
PreviouslyPublished: PMID: 26185478
Recombinant Factor VIIa Is Effective for Bleeding and Surgery in Patients With Glanzmann Thrombasthenia
PMID: 10572113
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions Glanzmann thrombasthenia patients; however, there is no mention of variants in ITGA2B and/or ITGB3 within these patients; therefore, there is insufficient evidence
Acquired Glanzmann's thrombasthenia without thrombocytopenia: a severe acquired autoimmune bleeding disorder
PMID: 15461628
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions probands with GT; however, variants in ITGA2B and/or ITGB3 are not mentioned
Intensive Menstrual BleedingSuccessfully Treated With RecombinantFactor VIIa in Glanzmann Thrombasthenia
PMID: 20460355
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions an individual with GT; however, no variants in ITGA2B or ITGB3 are mentioned
Use of allogeneic stem cell transplantation for moderate–severe Glanzmann thrombasthenia
PMID: 25548835
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article reports a case study with an individual with GT; however, no variants in ITGA2B or ITGB3 are reported here
Linkage of four polymorphisms on theaIIbgene
PMID: 9695983
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions variants in ITGA2B and ITGB3; however, there is no specific details of the GT patient's blood that was drawn to study these variants; therefore, there is insufficient evidence
INVITEDREVIEWAdvances in our understanding of the molecular basis ofdisorders of platelet function
PMID: 21781244
Genes: ITGB3
HGNC: 6156
InsufficientEvidence: This article mentions several variants in ITGB3; however no mention of individual probands with these variants
Spontaneoushaemothorax:anuncommonpresentationofGlanzmannthrombasthenia
PMID: 12434904
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a proband with GT; however, the article does not discuss this patient having variants in ITGA2B and/or ITGB3 therefore there is insufficient evidence
Anti‐αIIbβ3 immunization in Glanzmann thrombasthenia: review of literature and treatment recommendations Mathieu Fiore Corresponding Author E-mail address: mathieu.fiore@chu-bordeaux.fr http://orcid.org/0000-0002-2526-8826 Laboratory of Haematology, Reference Centre for Platelet Disorders, University Hospital of Bordeaux, Pessac, France Correspondence: Dr Mathieu Fiore, Laboratoire d'hématologie, Centre de Référence des Pathologies Plaquettaires, CHU de Bordeaux, Hôpital Cardiologique, Pessac, France. E‐mail: mathieu.fiore@chu-bordeaux.frSearch for more papers by this author Roseline d'Oiron Centre for Haemophilia and Rare Congenital Disorders, University Hospital Paris‐Sud, AP‐HP, Bicêtre Hospital, Kremlin‐Bicêtre, FranceSearch for more papers by this author Xavier Pillois Laboratory of Haematology, Reference Centre for Platelet Disorders, University Hospital of Bordeaux, Pessac, France Cardiovascular Adaptation to Ischaemia, Inserm U1034, Pessac, FranceSearch for more papers by this author Marie‐Christine Alessi Laboratory of Haematology, University Hospital of La Timone, French Reference Centre for Rare Platelet Disorders, Marseille, FranceSearch for more papers by this author
PMID:
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: Article mentions French gypsy mutation (c.1544+1G>A); however, no single proband to tie information to therefore we have insufficient evidence
The αvβ3 Integrin Regulates α5β1-mediated Cell Migration toward Fibronectin
PMID: 9361020
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions GT variants in ITGA2B/ITGB3; however, there are no GT patients harboring these variants; therefore, there is insufficient evidence
Oral Surgery in Patients With Glanzmann Thrombasthenia: A Case Series
PMID: 28341450
General: ITGA2B and/or ITGB3 (Not mentioned in article; however, implied due to patients having GT)
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions probands with Glanzmann thrombasthenia; however no mention of variants in ITGA2B or ITGB3
Clinical use of recombinant human activated factor VII (rFVIIa) in the prevention and treatment of bleeding episodes in patients with Glanzmann’s thrombasthenia
PMID: 18078017
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article summarizes GT and its mechanism of action. No information on GT probands or variants in ITGA2B and/or ITGB3
Glanzmann thrombasthenia and pregnancy: about a case, a review of the literature Glanzmann's Thrombasthenia and pregnancy: a case and a review of the literature
PMID: 14612172
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article is a review of GT and pregnancy. This article mentions a GT proband; however, there is no mention of variants in ITGA2B and/or ITGB3
β3 integrins: major therapeutic targets of the near future
PMID: 15544009
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions the variant p.Ser752Pro however the variant is not tied to a proband with GT; therefore, we have insufficient evidence
New technologies in gene therapy for inducing immune tolerance in hemophilia A
PMID: 30345839
Gene: F8
HGNC: 3546
NoEvidence: This article discusses new technologies in gene therapy for inducing immune tolerance in hemophilia A, there are no case reports with variants mentioned in this article
Alloantibodies in von Willebrand disease
PMID: 29165738
Gene: VWF
HGNC: 12726 (type 1)
Note: Insufficient Evidence due to lack of variant information. This paper designates variants as only "missense, deletion, etc" and lacks specific neucleotide changes. All probands with identifiable variants in this paper were from other PMIDs, which were confirmed to be previously curated or added to the list to be curated.
Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study
PMID: 32160020
Gene: MYH7
HGNC: 7577
The goal of this study was to adjust the framework for interpreting MHY7 variants. In 97 probands and 2059 variants, they found that "15/97 (15.5%) probands have likely pathogenic/P variants."
Variant information found in Table 3.
Primary arrest of circulating platelets on collagen involves phosphorylationof Syk, cortactin and focal adhesion kinase : studies under flow conditions
PMID: 11988077
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention GT probands with variants in ITGA2B and/or ITGB3 therefore there is insufficient evidence. However, the present study used blood samples from 2 patients with GT; therefore, the gene name and HGNC are included in this annotation
Improving selection of αIIbβ3-binding phage antibodies with increased reactivity derived from immunized donors
PMID: 14499243
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions GT case reports; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
British Journal of HaematoJogy. 1995. 89. 124-130 Platelets with 10% of the normal amount of glycoprotein VI have an impaired response to collagen that results in a mild bleeding tendency
PMID: 7530476
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
Modulation of clinical phenotype of Glanzmann's thrombastheniaby thrombogenic mutations
PMID: 19245802
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions GT patients; however, variants in ITGA2B and ITGB3 are not mentioned
Human platelet alloantigen polymorphism in Glanzmann's thrombasthenia and its impact on the severity of the disease Kanjaksha Ghosh Institute of Immunohematology (ICMR), KEM Hospital, Parel, Mumbai, IndiaSearch for more papers by this author Bipin Kulkarni Institute of Immunohematology (ICMR), KEM Hospital, Parel, Mumbai, IndiaSearch for more papers by this author Sona Nair Institute of Immunohematology (ICMR), KEM Hospital, Parel, Mumbai, IndiaSearch for more papers by this author Shrimati Shetty Institute of Immunohematology (ICMR), KEM Hospital, Parel, Mumbai, IndiaSearch for more papers by this author Dipika Mohanty Institute of Immunohematology (ICMR), KEM Hospital, Parel, Mumbai, IndiaSearch for more papers by this author
PMID: 12406067
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article does not mention variants in ITGA2B and/or ITGB3 in the probands in this article; therefore, we have insufficient evidence
C560Rβ3 caused platelet integrin αIIbβ3 to Bind Fibrinogen Continuously yet Resulted in a Severe Bleeding Syndrome and Increased Murine Mortality
PMID: 23551977
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article talks about a GT variant however in mice, not humans.
Genetic analysis of integrin function in man:LAD-1 and other syndromes
PMID: 10936446
Gene: ITGB3
HGNC: 6156
InsufficientEvidence: This article mentions variants in the ITGB3 gene; however, the variants are not connected to GT probands; therefore, we have insufficient evidence
Secondary prophylaxis with warfarin for recurrent thrombosis in a patient with Glanzmann thrombasthenia and F5 G1691A
PMID: 21848888
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned
Glanzmann thrombasthenia
PMID: 16722529
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions many variants in ITGA2B/ITGB3 (See Fig. 1 and 2); however, no mention of probands with these variants
A novel ELISA for diagnosis of Glanzmann’s thrombasthenia and the heterozygote carriers
PMID: 22183252
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions variants in 10 GT patients; however, it does not specify each case/proband with their gender/age/ethnicity and bleeding phenotypes.
Missed at first Glanz: Glanzmann thrombasthenia initially misdiagnosed as Von Willebrand Disease
PMID: 30551951
Gene: ITGA2B and/or ITGB3 (Patient has GT; therefore, these genes may be involved)
HGNC: 6138 and 6156
InsufficientEvidence: Proband is presented in this article with GT; however, no variant information is provided therefore insufficient evidence
Autoimmune Thrombocytopenic Purpura (AITP) andAcquired Thrombasthenia Due to Autoantibodies to GPIIb-IIIa in a Patient With an Unusual Platelet MembraneGlycoprotein Composition
PMID: 9462551
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a case report of a patient with thrombocytopenia; however, there is no mention of this proband harboring variants in ITGA2B and/or ITGB3
The use of recombinant factor VIIa in a patient with severe Glanzmann's thrombasthenia to facilitate insertion of a Port-a-Cath.
PMID: 10695773
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a proband with GT; however, no variants in ITGA2B and/or ITGB3 were mentioned in this individual therefore there is insufficient evidence
Note: Able to get PDF of article; however, was not able to use Hypothes.is on the PDF
Two Human Antibodies Reacting With Different Epitopes on Integrin Beta 3 of Platelets and Endothelial Cells
PMID: 7517865
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient (case report); however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
Severe Juvenile Vaginal Bleeding Due to Glanzmann's Thrombasthenia: Case Report and Review of the Literature
PMID: 9495374
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
Sustained engraftment and resolution of bleeding phenotype after unrelated cord blood hematopoietic stem cell transplantation for severe glanzmann thrombasthenia.
PMID: 19648793
Genes: ITGA2B and/or ITBG3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions an individual with GT; however, there is no mention of variants in ITGA2B and/or ITGB3 therefore we have insufficient evidence
The effect of platelets on fibrin gel structure formed in the presence of recombinant factor VIIa in hemophilia plasma and in plasma from a patient with Glanzmann thrombasthenia
PMID: 15670032
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a patient with GT; however, the patient does not have variants in ITGA2B and/or ITGB3
Further Characterization of the Thrombasthenia-related Idiotype OG. Antiidiotype Defines a Novel Epitope(s) Shared by Fibrinogen BE Chain, Vitronectin, and yon Willebrand Factor and Required for Binding to/33
PMID: 7525851
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a GT proband; however, no variants in ITGA2B and/or ITGB3 are mentioned therefore there is insufficient evidence
Study of the Relationship between HPA-1 and HPA-5 Gene Polymorphisms and Refractory to Platelet Therapy and Recombinant Factor VII in Glanzmann Thrombasthenia Patients in Southeast of Iran
PMID: 29951177
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: Article mentions Glanzmann thrombasthenia probands; however, no variants associated with patients therefore insufficient evidence
Glanzmann thrombasthenia and Bernard–Souliersyndrome in south Iran
PMID: 16178914
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions various probands with GT; however, there are no mentioned variants in ITGA2B and/or ITGB3, therefore, we have insufficient evidence
Open aortic valve replacement in a patient with Glanzmann’sthrombasthenia: a multidisciplinary strategy to minimizeperioperative bleeding
PMID: 23710629
Genes: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: Mention of proband with Glanzmann thrombasthenia however no variants in the proband are mentioned for ITGA2B and ITGB3
Identificationofafunctionallyimportantsequenceinthecytoplasmictailofintegrinf33byusingcell-permeablepeptideanalogs
PMID: 8876221
Gene: ITGB3
HGNC: 6156
InsufficientEvidence: This article mentions variants in ITGB3; however, there are no Glanzmann thrombasthenia patients mentioned harboring these variants; therefore, there is insufficient evidence
Labeling of the Internal Pool of GP IIb-IIIa in Platelets by c7E3 Fab Fragments (abciximab): Flow and Endocytic Mechanisms Contribute to the Transport
PMID: 10029591
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a case report of a GT patient in another article; however, this article does not specifically mention any GT case reports
PreviouslyPublished: PMID: 2180491 and PMID:
Human endoglin as a potential new partner involved in platelet–endothelium interactions
PMID: 29080903
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: No mention of patients with Glanzmann thrombasthenia or variants in probands. This article is about endoglin, an adhesion molecule involved in the interaction between endothelial cells and platelets through intigren recognition
αIIbβ3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia
PMID: 25827233
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156, respectively
InsufficientEvidence: This article analyzed missense variants in the integrin αIIbβ3 receptor subunit genes ITGA2B and ITGB3 identified by WES comprising around 32,000 alleles from 16,108 individuals. There is no specific tie between variants and probands; therefore, there is insufficient evidence
Diagnosis of Disorders of Platelet Function by Flow Cytometry
PMID: 12840847
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions two probands with GT; however, no variants in ITGA2B and/or ITGB3 were mentioned
Glanzmann Thrombasthenia: State of the Art and Future Directions
PMID: 23929305
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article is a review on GT; there are several previously published probands; however, there are no new case reports in this article.
A genetic analysis of integrin function: Glanzmannthrombastheniain vitro
PMID: 9050889
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions ITGA2B/ITGB3 variants and has experimental evidence; however, no GT cases reports are mentioned here
Note: Previously published articles are mentioned here, they have been tagged
Successful unrelated donor cord blood transplantation for Glanzmann’s thrombasthenia Carrie L. Kitko Department of Pediatrics and Internal Medicine, Blood and Marrow Transplant Program, University of Michigan, Ann Arbor, MISearch for more papers by this author John E. Levine Department of Pediatrics and Internal Medicine, Blood and Marrow Transplant Program, University of Michigan, Ann Arbor, MISearch for more papers by this author Dana C. Matthews Department of Pediatrics, University of Washington, Seattle, WASearch for more papers by this author Paul A. Carpenter Department of Pediatrics, University of Washington, Seattle, WA Fred Hutchinson Cancer Research Center, Seattle, WA, USASearch for more papers by this author
PMID: 19849809
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions patients with GT however no variants in ITGA2B and/or ITGB3 are mentioned here
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations
PMID:
Gene: OPA1
Disease: hereditary optic neuropathy
980 patients in this study with suspected hereditary optic neuropathies were evaluated by searching for the ten primary LHON-causing mtDNA mutations and examining the entire coding sequences of the OPA1 and OPA3 genes. 295 had variants in OPA1; however the exact count for this variant was not provided and neither was any additional phenotypic information.
Genetic determinants of VWF clearance and FVIII binding modify FVIII pharmacokinetics in pediatric hemophilia A patients
PMID: 31350267
Gene: F8
HGNC: 3546
InsufficientEvidence: This article groups together all 43 patients so there are no individual case reports that are mentioned
Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory
PMID: 29754767
Gene: F8
HGNC: 3546
InsufficientEvidence: This article mentions a F8 variant however does not have a detailed case report for a proband
Factor VIII: Long-established role in haemophilia A and emerging evidence beyond haemostasis
PMID: 30922616
Gene: F8
HGNC: 3546
InsufficientEvidence: This article is a review, it does not mention any new case reports
PreviouslyPublished
Hypertrophic Cardiomyopathy Overview
PMID: 20301725
Gene: MYH7
HGNC: 7577
"The purpose of this overview is to increase clinician awareness of the genetic basis of hypertrophic cardiomyopathy (HCM) and the benefits of early diagnosis and management to individuals with genetic HCM."
A new variant of Glanzmann's thrombasthenia with defective activation-dependent fibrinogen binding and altered expression of epitopes for several monoclonal antibodies against GP IIb-IIIa
PMID: 21043690
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a GT patient LB with GT; however, no specific variants in ITGA2B and/or ITGB3 are mentioned in this patient therefore there is insufficient evidence
Sibling allogeneic bone marrow transplantationin a patient with type I Glanzmann’s thrombasthenia
PMID: 9359503
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
Antibody Removal Therapy Used Successfully at Delivery of a Pregnant Patient with Glanzmann’s Thrombasthenia and Multiple Anti-Platelet Antibodies
PMID: 1949709
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
Major mutations in calf-1 and calf-2 domains of glycoprotein IIb in patients with Glanzmann thrombasthenia enable GPIIb/IIIa complex formation, but impair its transport from the endoplasmic reticulum to the Golgi apparatus
PMID: 12609844
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions 2 major mutations in the calf-1 and calf-2 domains of ITGA2B. There are no specific Glanzmann thromasthenia patients mentioned that harbor these specific variants; therefore, there is insufficient evidence
Glanzmann Thrombasthenia in Children From Argentina
PMID: 8556365
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions 10 GT patients; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
PLATELET TRANSFUSION IN A PATIENT AFFECTED BY GLANZMANN'STHROMBASTHENIA WITH ANTIBODIES AGAINST GPIIb-IIIa
PMID: 9107089
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
Identification of a region in glycoprotein IIIa involved in subunit association with glycoprotein IIb: further lessons from Iraqi-Jewish Glanzmann thrombasthenia
PMID: 11719373
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions variants in ITGA2B/ITGB3; however, no probands discussed in this article
Enzymatically catalyzed disulfide exchange is required for platelet adhesion to collagen via integrin α2β1
PMID: 12791669
Gene: ITGB3
HGNC: 6156
InsufficientEvidence: This article mentions a variant in ITGB3; however, there is no mention of a proband with this variant
Glanzmann's Thrombastenia: The Role of Tranexamic Acid in Oral Surgery
PMID: 30254767
Gene: ITGA2B and/or ITGB3 (Proband diagnosed with Gt therefore these genes may be involved here)
HGNC: 6138 and 6156
InsufficientEvidence: Proband with Glanzmann Thrombasthenia described here however no mention of variants therefore insufficient evidence
Mechanistic Insights from a Refined Three-dimensionalModel of IntegrinIIb3*
PMID: 15056669
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions Glanzmann thrombasthenia variants; however, no patients with GT are mentioned with these variants therefore we have insufficient evidence
Fibrin-Dependent Platelet Procoagulant Activity Requires GPIb Receptors and von Willebrand Factor
PMID: 9885217
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article references a GT patient, which was reported as a case report in another article; however, no specific case reports are mentioned in this article
PreviouslyPublished: PMID: 2014236
Critical Residues of IntegrinaIIb Subunit for Binding ofaIIbb3(Glycoprotein IIb-IIIa) to Fibrinogen and Ligand-mimeticAntibodies (PAC-1, OP-G2, and LJ-CP3)*
PMID: 8702512
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions variants in ITGA2B and/or ITGB3; however, there are no Glanzmann thrombasthenia case reports mentioned in this article therefore we have insufficient evidence
Coronary Artery Bypass Grafting in aPatient with Glanzmann’sThrombasthenia
PMID: 16309410
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a proband with GT'; however, no variants in ITGA2B and/or ITGB3 are mentioned therefore we have insufficient evidence
Thalidomide for the Treatment of Gastrointestinal Bleeding Due to Angiodysplasia in a Patient with Glanzmann’s Thrombasthenia
PMID: 28670433
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article describes a proband with Glanzmann thrombasthenia; however, there is no mention of variants in ITGA2B and ITGB3 in this proband.
Glanzmann's Thrombasthenia Diagnosed following Knee Arthroscopy
PMID: 26000186
Gene: Patient could have variation in ITGA2B or ITGB3, article does not specify; however, patient has GT so it is implied one of the two genes is involved
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a proband who was diagnosed with Glanzmann thrombasthenia; however, there is no mention of variants in ITGA2B or ITGB3 in this patient; therefore, we have insufficient evidence
Total Extraction as a Treatment for Anaemia in a Patient of Glanzmann’s Thrombasthenia with Chronic Gingival Bleed: Case Report
PMID: 26894187
Gene: ITGA2B and/or ITGB3 (Article does not explicitly state these genes; however, patient has Glanzmann thrombasthenia so these two genes are implied)
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a case report of an 18 year old male patient with Glanzmann thromasthenia; however, there are no variants in ITGA2B or ITGB3 that are mentioned here
A systematic review of the management and outcomes ofpregnancy in Glanzmann thrombasthenia
PMID: 21457404
Genes: ITGA2B and ITGB3
HGNC: 6138 and 6156
Insufficient Evidence: This article reports the results of a systematic review of management and outcome data contained within all published descriptions of pregnancy in GT. Probands with GT are mentioned; however, no variants are mentioned.
INHERITEDDEFECTS OFPLATELETFUNCTION
PMID: 11844132
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions variants in ITGA2B and ITGB3; however, there are no specific Glanzmann thrombasthenia patients with the mentioned variants; therefore, there is insufficient evidence
Carrier Detection in Glanzmann ThrombastheniaComparison of Flow Cytometry and Western Blot With Respect to DNA Mutation
PMID: 18550477
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions probands with GT; however, the probands are clumped together, and variants are not specifically tied to probands
Concomitant occurrence of mucopolysaccharidosis IIIB and Glanzmann's thrombasthenia. Further
PMID: 1606713
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a Glanzmann thrombasthenia patient and family members of the patient; however, there is no mention of variants in ITGA2B and/or ITGB3; therefore, there is insufficient evidence
Periodontal considerations for Glanzmann's thrombasthenic patient
PMID: 20142940
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a case report of a 9 year old GT patient who presented with gum bleeding; however, no specific variants in ITGA2B and/or ITGB3 are presented in this patient; therefore we have insufficient evidnece
Acquired Glanzmann's thrombasthenia associated with acute lymphoblastic leukemia.
PMID: 16217260
Genes: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a proband with GT; however, no variants in ITGA2B and/or ITGB3 are mentioned therefore we have insufficient evidence
Correction of a large animal model of type I Glanzmann's thrombasthenia by nonmyeloablative bone marrow transplantation
PMID: 14662345
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: This article mentions dogs with GT; however, the article states, "These animals have a 14-base insertion in exon 13 of glycoprotein IIb gene" which is a variant in ITGA2B. This variant may only be specific to dogs; however, just wanted to make note of this gene alteration.
Menorrhagia due to abnormalities of the platelet function: Evaluation of two young patients
PMID: 17250517
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions two GT case reports of girls with menorrhagia; however, there was no mention of variants in ITGA2B and/or ITGB3; therefore there is insufficient evidence
Rapid diagnosis of the French gypsy mutation in Glanzmann thrombasthenia using high- resolution melting analysis
PMID: 20886184
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: This article discusses the French Gypsy variant NM_000419.3:c.1544+1G>A (p.Val513Leufs*71) in ITGA2B and mentions a cohort of patients harboring this variant; however, there are no specific case level reports mentioned in this article therefore we have insufficient evidence
A unique phenotype of acquired Glanzmann thrombastheniadue to non-function-blocking anti-aIIbb3 autoantibodies
PMID: 30388316
Gene: ITGA2B and/or ITGB3 (Proband presented with GT therefore these two genes may be involved)
HGNC: 6138 and 6156
InsufficientEvidence: Proband with Glanzmann thrombasthenia presented in this article; however, no variant information provided
Type I Glanzmann Thrombasthenia: Most CommonSubtypes in North Indians
PMID: 14508803
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions GT patients however no variants in ITGA2B and/or ITGB3 are mentioned in these patients.
In this study the goal was to determine what the common subtype of GT was: The expression of GPIIb/IIIa on the platelet surface was assessed in 10 patients with Glanzmann thrombasthenia and their families by flow cytometry to determine the common subtype in North Indians
Identifying human platelet glycoproteins IIb and IIIa by capillary electrophoresis
PMID: 9694297
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
Epistaxis as a Common Presenting Symptom of Glanzmann's Thrombasthenia, a Rare Qualitative Platelet Disorder: Illustrative Case Examples
PMID: 28299211
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions cases of patients with Glanzmann thrombasthenia and their phenotypes; however, no mention of variants in ITGB3 or ITGA2B
A New Case of Acquired Glanzmann’sThrombasthenia: Diagnostic Value ofFlow Cytometry
PMID: 18200593
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a 27 year old proband with Glanzmann thrombasthenia; however, no variants in ITGA2B and/or ITGB3 were mentioned in this proband therefore we have insufficient evidence
The variant p.(Arg628Ter) was not present in any UK or Ireland individuals but was identified in 14 individuals from other regions, accounting for 4.8% of alleles in all individuals. Supp. Figure S1
14 individuals in the "other" population were found to have this variant and severe Hurler, but no additional information provided about genotype or phenotype since this study focused on the UK subset of the cohort.
c. 1882 C > T (p.R628*)
This paper focuses on the process of combining machine learning with GAG characterization for differential diagnosis of MPSs. The variant was found in an MPS1 case, but no further details were provided about the individual's genotype or phenotype.
Single synonymous mutation in Factor IX alters protein properties and underlies hemophilia B
PMID: 28007939
Gene: F9
HGNCID: 3551
Advances and challenges for hemophilia gene therapy
PMID: 31332444
Gene: F8
InsufficientEvidence: Patients are mentioned; however, no mention of variants.
Enhanced potency of recombinant factor VIIa with increased
PMID: 31549480
Gene: F8
InsufficientEvidence: This article mentions variants and patient tissue being used separately; however, does not tie them in together, without a variant to tie the proband to, it’s insufficient evidence
Prediction of factor VIII inhibitor development in the SIPPET cohort by mutational analysis and factor VIII antigen measurement
PMID: 29399993
Gene: F8
HGNC: 3546
InsufficientEvidence: This article mentions variants however there are no specific case reports mentioned therefore, insufficient evidence
An Integrated Computational Framework to Assess the Mutational Landscape of α-L-Iduronidase IDUA Gene
Free, full-text NOT available. Text obtained through a University account and annotations added to the free PubMed abstract.
IDUA variants were pulled from various public databases and subjected to in silico analyses. No individual-level patient data (e.g., phenotypes) are provided.
The discovery in 1990 that a point mutation at residue 403 (R403Q) in the β-myosin heavy chain (MHC) caused a severe form of FHC was the first of many demonstrations linking FHC to mutations in muscle proteins. A mouse model for FHC has been widely used to study the mechanochemical properties of mutated cardiac myosin, but mouse hearts express α-MHC, whereas the ventricles of larger mammals express predominantly β-MHC. To address the role of the isoform backbone on function, we generated a transgenic mouse in which the endogenous α-MHC was partially replaced with transgenically encoded β-MHC or α-MHC. A His6 tag was cloned at the N terminus, along with R403Q, to facilitate isolation of myosin subfragment 1 (S1).
We find in agreement with earlier studies that the R403Q mutation in a mouse α-MHC backbone results in a gain of function, a model that has been widely accepted as the primary cause leading to hypertrophic cardiomyopathy. However, we find that this enhancement does not extend to the R403Q mutation in a mouse β-MHC backbone. Our results do not necessarily imply a universal mechanism for FHC mutations in the β-myosin heavy chain.
NM_000257.4:c.1208G>A (p.Arg403Gln)
Genotype-Related Clinical Characteristics and Myocardial Fibrosis and Their Association with Prognosis in Hypertrophic Cardiomyopathy
PMID: 32492895
Gene: MYH7
HGNC: 7577
"The objectives of this study were to assess the spectrum of genetic variants and genotype–phenotype relationships within a Korean HCM population. Methods: Eighty-nine consecutive unrelated HCM patients were included. All patients underwent genotypic analysis for 23 HCM-associated genes. Clinical parameters including echocardiographic and cardiac magnetic resonance (CMR) parameters were evaluated. A composite of major adverse cardiac and cerebrovascular events was assessed. Results: Genetic variants were detected in 55 of 89 subjects. Pathogenic variants or likely pathogenic variants were identified in 27 of HCM patients in MYBPC3, TNNI3, MYH7, and MYL7."
Severe Intestinal Bleeding in a Woman with Glanzmann Thrombasthenia
PMID: 30756012
Gene: ITGA2B and/or ITGB3 (Patient has GT; therefore, these two genes may be implicated)
HGNC: 6138 and 6156
InsufficientEvidence: Case report presented here; however, no mention of variants in ITGA2B or ITGB3.
STUDIES OF THE PLATELET FIBRINOGEN RECEPTOR IN GLANZMANN PATIENTS AND UREMIC PATIENTS
PMID: 1412224
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions 2 Glanzmann thrombasthenia patients; however, no variants in ITGA2B and/or ITGB3 are mentioned in the patients. The purpose of this study was to investigate fibrinogen binding to the platelet receptor in normal subjects, patients with GT, and carriers of this disorder, s well as in patients with chronic uremia before and after treatment with recombinant erythropoiten.
Novel mutations of integrinaIIb andb3 genes in Turkish children withGlanzmann’s thrombasthenia
PMID: 25734216
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions 20 GT patients and variants in ITGA2B and ITGB3, which these patients harbor. However, the variants are not specific to the patient, the article has just listed a table of the variants not identifying them with their respective patients
Sustained engraftment post bone marrow transplant despite anti‐platelet antibodies in Glanzmann thrombasthenia Veronica H. Flood MD Corresponding Author E-mail address: floodv@ohsu.edu Pediatric Stem cell Transplant Program, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, OregonDivision of Pediatric Hematology/Oncology, CDRCP, Oregon Health and Science University, 3181 SW Sam Jackson Park Road, Portland, OR 97239.===Search for more papers by this author F. Leonard Johnson MD Pediatric Stem cell Transplant Program, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, OregonSearch for more papers by this author Lynn K. Boshkov MD Department of Pathology, Oregon Health & Science University, Portland, OregonSearch for more papers by this author Gregory A. Thomas MD Pediatric Stem cell Transplant Program, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, OregonSearch for more papers by this author Diane J. Nugent MD Division of Hematology, Children's Hospital of Orange County, Orange, CaliforniaSearch for more papers by this author Antony C. Bakke PhD Department of Pathology, Oregon Health & Science University, Portland, OregonSearch for more papers by this author H. Stacy Nicholson MD, MPH Pediatric Stem cell Transplant Program, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, OregonSearch for more papers by this author David Tilford MD Pediatric Stem cell Transplant Program, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, OregonSearch for more papers by this author Mary P. Brown MD Central Oregon Pediatrics, Bend, OregonSearch for more papers by this author Kamar T. Godder MD, MPH Corresponding Author E-mail address: godderk@ohsu.edu Pediatric Stem cell Transplant Program, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, OregonDivision of Pediatric Hematology/Oncology, CDRCP, Oregon Health and Science University, 3181 SW Sam Jackson Park Road, Portland, OR 97239.===Search for more papers by this author
PMID: 15768382
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions 3 probands with Glanzmann thrombasthenia; however, there is no mention of these probands bearing variants in ITGA2B and/or ITGB3; therefore, we have insufficient evidence
Demonstration of a marked reduction in the amount of GPIIb in most type I1 patients with Glanzmann’s thrombasthenia
PMID: 7947235
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article employees a sensitive immunoblot assay, where researchers characterized thrombasthenic platelets from 11 GT patients. There are no specific case reports of these patients, or mention of specific variants in ITGA2B/ITGB3 which these patients harbor, therefore there is insufficient evidence
PreviouslyPublished: Molecular defects in some of these patients has been demonstrated in these articles: Burk et al. 1991; Newman et al, 1991: Kato et al, 1992: Gu et al. 1993
Evaluation of rFVIIa (NovoSeven) in Glanzmann patients with thromboelastogram
PMID: 18070065
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: Glanzmann thrombasthenia patients are mentioned in this article; however, variants in ITGA2B and/or ITGB3 are not mentioned in patients
A mutation in the β3 cytoplasmic tail causes variant Glanzmann thrombasthenia by abrogating transition of αIIbβ3 to an active state
PMID: 22136613
Gene: ITGA2B and ITBG3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions variants in ITGA2B and ITGB3; however, no individual probands are mentioned
Rapid Heterozygote Detection in Glanzmann's Thrombasthenia
PMID: 9576183
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156, respectively
InsufficientEvidence: This article mentions several patients with GT; however, no variants in ITGA2B and/or ITGB3 therefore we have insufficient evidence
A Defect of Platelet Aggregation Associated With an Abnormal Distribution of Glycoprotein IIb-IIIa Complexes Within the Platelet: The Cause of a Lifelong Bleeding Disorder
PMID: 1638023
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
Use of autologous platelet‐rich clots for the prevention of local injury bleeding in patients with severe inherited mucocutaneous bleeding disorders
PMID: 21323803
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: This article mentions a 60 year old Glanzmann thrombasthenia proband with missense mutations in ITGA2B; however, article does not have data for what mutations the proband has
Platelet function tests using plateletaggregometry: need for repetition of the test fordiagnosis of defective platelet function
PMID: 14602548
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article is mentions a cohort of 497 patients referred to their laboratory from all over Mumbai for investigation of spontaneous mucocutaneous bleeding. 61 of these patnets had Glanzmann thrombasthenia; however, no variants in ITGA2B and/or ITGB3 were mentioned in these patients therefore there is insufficient evidence
Combination of acquired von Willebrand syndrome (AVWS) and Glanzmann thrombasthenia in monoclonal gammopathy of uncertain significance (MGUS), a case report
PMID: 30534006
Gene: ITGA2B and/or ITGB3 (Proband has GT; therefore, these two genes may be involved)
HGNC: 6138 and 6156
InsufficientEvidence: Proband with acquired Glanzmann thrombasthenia presented here; however, no mention of any variants therefore insufficient evidence
Characterization of the cDNA Encoding αIIb and β3 in Normal Horses and Two Horses with Glanzmann Thrombasthenia
PMID: 16407493
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a variant in ITGA2B/ITGB3 however in horses not humans
Platelet Prothrombinase Activity and Intracellular Calcium Responses in Patients With Storage Pool Deficiency, Glycoprotein IIb-IIIa Deficiency, or Impaired Platelet Coagulant Activity — A Comparison With Scott Syndrome
PMID: 9057642
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: This article mentions GT patients that have been previously reported; however, this article does not mention any specific GT case reports with variants in ITGA2B and/or ITGB#
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
PreviouslyPublished: PMIDs: 8329704 and 2935207
Glanzmann's thrombasthenia: report of a case and review of the literature
PMID: 20490335
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a case report of a Peurto Rican female with GT; however, no variants in ITGA2B or ITGB3 are reported in this patient
REPERTOIRE CLONING OF A HUMAN Molecular Immunology, Vol. 32, No. 9, pp. 613-622, 1995 Copyright 0 1995 Elsevier Science Ltd Printed in Great Britain. All rights reserved 0161~5890/95 $9.50 + 0.00 IgG INHIBITOR OF a,,& FUNCTION. THE OG IDIOTYPE
PMID: 7543974
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a GT proband; however, no variants in ITGA2B and/or ITGB3 are mentioned in this proband
The Journal of Emergency Medicine, Vol 14, No 3. pp 29Y-303. 1996 Copyright 0 1996 Elsevier Science Inc. Printed in the USA. All rights reserved 0736.4679N6 $lS.On -a- .O
PMID: 8782023
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
Note: Hypothes.is would not let me highlight the title of the article so I highlighted the journal
Dissociation between fibrinogen and fibrin interaction with platelets in patients with different subtypes of Glanzmann's thrombasthenia: studies in an ex vivo perfusion chamber model
PMID: 12472580
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article does not mention any new case reports of GT; however, there are previously published probands mentioned in this article; therefore, there is insufficient evidence.
PreviouslyPublished: PMID: 2180491, 9226191, 3818957, 7509233
DDAVP infusion can modify VASP phosphorylation in humanplatelets
PMID: 15102025
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions "a platelet defect as a heterozygous Glanzmann thrombasthenia" however unable to access the article they cited after that sentence to get further information on the heterozygous variant
Patients With Glanzmann Thrombasthenia Lacking Platelet Glycoprotein αIIbβ3 (GPIIb/IIIa) and αvβ3 Receptors Are Not Protected From Atherosclerosis
PMID: 11877352
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions GT patients and 2 variants in ITGA2B and/or ITGB3 that have been seen in these patients; however, there is no direct correlation for which patients harbor which variant; therefore there is insufficient evidence
"Five were homozygous for the 11-bp deletion in the β3 gene11 and 2 were homozygous for a splice site mutation of the αIIb gene"
Molecular basis ofGlanzmann’sThrombasthenia andcurrent strategies intreatment
PMID: 12163005
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article is a review on GT.
Glanzmann Thrombasthenia in a Newborn with Heterozygous Factor VLeiden and Heterozygous MTHFR C677T Gene Mutations
PMID: 30819996
Gene: ITGA2B and/or ITGB3 (Proband has GT; therefore, one of these variants may be implicated)
HGNC: 6138 and 6156
InsufficientEvidence: Case report presented in this article with Glanzmann thrombasthenia; however, sequencing reveals differential diagnosis to GT, with mutations in other genes.
Acquired Glanzmann's thrombasthenia caused by glycoprotein IIb/IIIa autoantibodies of the immunoglobulin G1 (IgG1), IgG2 or IgG4 subclass: a study in six cases.
PMID: 19138263
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions probands with GT; however, no mention of variants in ITGA2B and/or ITGB3
Note: Full-text found on UNC library website-- was not able to annotate on that document therefore annotation found here
Acquired Glanzmann’s Thrombasthenia Associatedwith Hodgkin’s Lymphoma
PMID: 9576300
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
Bone marrow transplantation in severe Glanzmann's thrombasthenia with antiplatelet alloimmunization
PMID: 10673707
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
PMA induces platelet activation of specificantigens (CD62/CD63) in GpIIb-IIIa deficientplatelets from Glanzmann's thrombasthenia
PMID: 16793673
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions individuals with Glanzmann thrombasthenia; however, the probands don't have variants in ITGAB and/or ITGB3 mentioned
Acquired Glanzmann’s thrombasthenia associated with Hairy cell leukaemia M. Kannan All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author T. Chatterjee All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author F. Ahmad All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author R. Kumar DR BRA IRCH, New Delhi, IndiaSearch for more papers by this author V. P. Choudhry All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author R. Saxena All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author
PMID: 19594615
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions an individual with Hairy cell leukemia who presented with bleeding diathesis diagnosed to have acquired GT. There is no mention of ITGA2B/ ITGB3 variants in this individual.
ORIGINAL ARTICLEMutations in GPIIIa molecule as a cause for Glanzmannthrombasthenia in Indian patients
PMID: 15748237
Gene: ITGA2B and ITGB3
HGNC: 6138 and 1656
InsufficientEvidence: This article mentions 22 GT patients and variants, which these patients harbor; however, the article does not specify which patient harbors which variants therefore there is insufficient evidence
Upregulation of osteoclast α2β1 integrin compensates for lack of αvβ3 vitronectin receptor in Iraqi‐Jewish‐type Glanzmann thrombasthenia
PMID: 12956766
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions GT patients; however, there are no variants presented in ITGA2B and/or ITGB3
Severe and Relapsing Upper GastrointestinalBleeding in a Patient withGlanzmann’s Thrombasthenia
PMID: 10749344
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a Glanzmann thrombasthenia patient (Patient DM, 55 year old); however, no variants in ITGA2B and/or ITGB3 were mentioned in this proband therefore there is insufficient evidence
A total of 801 stroke patients were enrolled in the study (Figure 1). We excluded 91 patients who did not have muscle symptoms with CK elevation or had tolerable myalgia without CK elevation. Seven patients were excluded because their baseline CK levels were not less than 480 U/L. Eleven patients were excluded because their CK levels were elevated by other medical issues including myocardial infarction and surgical procedures. We also excluded four patients as their DNA samples were insufficient for analysis. As a result, 688 patients were included in the analysis. Of the included patients, 56 experienced statin-associated muscle symptoms. Twelve patients underwent myopathy (SRM 3) after statin treatment, and two patients experienced severe myopathy (SRM 4). Forty-two patients had intolerable myalgia (SRM 2). The remaining 632 patients who never experienced SRM were classified as the control group.
Korean stroke patients who were carriers of COQ5 rs10849757 were more associated with statin related myotoxicity risk than wild-type homozygote carriers (GG) (9.7% vs. 3.9%, p = 0.024). Only group demographics provided rather than individual phenotype/genotype information
c.1195_1197delGAG p.E399del
this variant is mentioned but only as a variant from infants diagnosed through NBS for MPS1, does not appear to have been confirmed so no functional studies were performed- VUS defined by ACMG. no case level or experimental evidence provided.
Amongst the 2181 suspected patients, 285 (13%) were biochemically diagnosed. Of these, 22.5% (64/285) diagnosed with Pompe disease harboured c.1933G>A, c.1A>G, c.1927G>A and c.2783G>C as common and 10 novel pathogenic variants while 7.4% (21/285) patients diagnosed with Fabry disease carried c.851T>C, c.902G>A, c.905A>C and c.1212_1234del as frequent disease-causing variants along with 7 novel pathogenic variants. As many as 48.4% (138/285) patients were diagnosed with Gaucher disease and had c.1448T>C as the most common pathogenic variant followed by c.1342G>C and c.754T>C with 7 previously unreported disease-causing variants and in the 21.7% (62/285) diagnosed cases of Hurler disease, c.1469T>C, c.754delC c.568_581del and c.1898C>T were identified as the most common causative variants along with 21 novel pathogenic variants.
paper provided by LD VCEP for this variant. annotating here since the paper is a PDF provided by the library.
Case#: Thomas P61, 1yo, male, Indian
DiseaseAssertion: Hurler
FamilyInfo: n/a
CasePresentingHPOs: HP:0000280, HP:0001433, HP:0007957, HP:0002719, HP:0001249
CaseHPOFreeText: 2.5% residual IDUA activity on DBS
CaseNotHPOs:
CaseNotHPOFreeText:
PreviouslyPublished: n/a
Variant: c.1195_1197del (p.Glu399del); c.1249_1275del (p.Thr417_His425fs*55)
ClinVar: 2498386; 556156
CAID: CA549264677; CA658823291
SupplementalData: n/a
Christmas disease in a Hovawart family resembling human hemophilia B Leyden is caused by a single nucleotide deletion in a highly conserved transcription factor binding site of the F9 gene promoter
PMID: 30846504
Gene: F9
HGNC: 3551
Insights into Mucopolysaccharidosis I from the structure and action of α-L-Iduronidase
PMID: 24036510
Gene: IDUA
Disease: MPS1
Inheritance: Autosomal recessive
Why Insufficient: Variants are not linked to probands. This paper is assessing IDUA mutations on the structure of alpha-L-iduronidase. Therefore they are pulling common IDUA variants and using them to assess structure, rather than investigating how a variant has impacted a proband.
Phenotypes of hypertrophic cardiomyopathy: genetics, clinics, and modular imaging
PMCID: 32040801
Gene: MYH7
HGNC: 7577
"The purpose of this article is to summarize current data regarding all HCM phenotypes, from genetics to pathogenesis, clinical manifestations, diagnosis, and treatment."
We obtained induced pluripotent stem cells (iPSCs) from the HCM patient carrying heterozygous p.M659I (c.1977G > A) mutation in MYH7 encoding for β-myosin heavy chain (See Table 1). The mutation was also found in a population study of HCM patients (Richard et al., 2003) but its clinical significance is still unknown.
Case1: male, 38, caucasian
DiseaseAssertion: hypertrophic cardiomyopathy
FamilyInfo:
CasePresentingHPOs:
CaseHPOFreeText:
CaseNotHPOs:
CaseNotHPOFreeText:
CasePreviousTesting:
GenotypingMethod: the presence of p.M659I (c.1977G > A) mutation in the iPSC lines was confirmed by Sanger sequencing of exon 18 of MYH7 (Fig. 1F).
Variant: NM_000257.4:c.1977G>A
ClinVar: not found
CAID: CA389049400
gnomAD: not found
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."
Overall, this study suggests that the R453C mutation should result in a hypercontractile state in the heart muscle.
No Case Info
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
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.
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
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
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"
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
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
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
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
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