Focal choroidal excavation in Stargardt’s dystrophy
PMID: 32843395
Gene: ABCA4
Disease: Stargardt
1,182 Matching Annotations
- Jul 2026
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity
PMID: 35120629
Gene: ABCA4
Disease: Stargardt disease
PAPER USED TO SCORE PS4
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jamanetwork.com jamanetwork.com
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ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy
PMID: 12796258
Gene: ABCA4
Disease: autosomal recessive cone-rod dystrophy
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Phenotype/genotype correlation in a case series of Stargardt's patients identifies novel mutations in the ABCA4 gene
PMID: 23949494 HGNC: 34 Gene: ABCA4 DiseaseAssertion: Stargardt Disease
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Functional Analysis and Classification of Homozygous and Hypomorphic ABCA4 Variants Associated with Stargardt Macular Degeneration
PMID: 32845050
Gene: ABCA4
Disease: Stargardt Macular Degeneration
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jamanetwork.com jamanetwork.com
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Molecular testing for hereditary retinal disease as part of clinical care
PMID: 17296903
Gene: ABCA4
Disease: hereditary retinal disease
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www.e-mjm.org www.e-mjm.org
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An uncommon case of retinitis pigmentosa patients basedon clinical and genetic studyAyudha Bahana Bahana Ilham Perdamaian, MSc2, Dewi Kartikawati Paramita, PhD3, Riris Istighfari Jenie,PhD4, Supanji Supanji, PhD11Universitas Gadjah Mada Fakultas Kedokteran Kesehatan Masyarakat dan Keperawatan, 2Doctorate Program of Health andMedicine Science, Faculty of Medicine, Public Health, and Nurse, Universitas Gadjah Mada, Yogyakarta, Indonesia. Departmentof Ophthalmology, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, 3Department of Histology andMolecular Biology, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia,Integrated Research Laboratory, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakar,4Department of Pharmaceutical Chemistry, Faculty of Pharmacy, Gadjah Mada University, Yogyakarta, IndonesiaCASE REPORTThis article was accepted: 25 August 2024Corresponding Author: Supanji SupanjiEmail: supanji@ugm.ac.id19-An uncommon00304.qxp_3-PRIMARY.qxd 29/08/2024 3:47 PM Page 98
PMID:39215425
Gene: ABCA4
HGNC ID: 34
case27-year-old male, the brother of case 1
DiseaseAssertion: Table 1 The summary of the clinical assessment of IRD patients’ family in this research fro there down they did a whole pannel on the family
Pedigree one can be fore form the beggginnings of case presention section?
CasePresentingHPOs: Case 2, a 27-year-old male, the brother of case 1 had blurry vision which was not corrected with an eyeglass and inconveniences under bright light starting from 14 years ago. Case 2 also underwent a fundus examination after finding that case 1 was RP. In further examination of those patients and their family members found that case 1 was confirmed as RP and case 2
CaseHPOFreeText:NA
CaseNotHPOs:NA
CaseNotHPOFreeText:NA
Genotyping Method:NA
PreviouslyPublished:NA
Variant:NA
ClinVar:
CAID:NA
SupplementalData:NA
Inheritance pattern Autosomal Recessive
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Therefore,a lower homozygous frequency in the BAP dataset than expectedbased on the AF in the general population indicates that a variantis mild
I don't understand what this means, but how I interepret it is if an homozygous STGD1 variant appears at a lower frequency that it is less severe.
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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(http://genetics.bwh.harvard.edu/pph2/). In addition, mutation taster predicted both L168F and L168S variant as disease-causing with PROVEAN predictions of L168F (-2.767) and L168S (-4.083) as deleterious (https://www.mutationtaster.org/). As such, it was not surprising that the L168S variant patient had much more severe disease onset and rapid progression compared to other SCA34-causing ELOVL4 variants. For example, a patient carrying the T233M ELOVL4 variant was reported to develop ataxia starting at 15 years of age [10]. However, at the time of examination of this patient at 60 years of age, an MRI of the brain showed only subtle flattening of the ventral pons and mild cerebellar atrophy [10]. Another patient carrying the Q180P ELOVL4 variant developed ataxia in his mid-20 s and showed cerebellar and pontine atrophy [11]. Japanese patients also carrying the W256G variant developed gait ataxia between 13–56 years of age [12]. However, disease progression was reported to be very slow, and patients did not require assistance with walking with a walker or cane until the age of 60 years or older [12]. Taken together, it looks like the nature of the mutation and its effect on normal ELOVL4 function most likely through defects in VLC-FA biosynthesis or conformational changes in protein structure are critical to disease onset and severity of the pathologies.
SupplementalData:
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www.tandfonline.com www.tandfonline.com
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WDR19-associated retinopathy presenting with adult-onset Stargardt-likephenotype
PMID:39967245
Gene: ABCA4
HGNC ID: 34
Case#:39 man
DiseaseAssertion:NA
FamilyInfo:NA
CasePresentingHPOs:Snellen in both eye, visual impairment with night blindnessisual acuity was 20/20Snellen in both eyes, with a minor correction for astig-matism. The anterior segment and intraocular pressurewere within normal limits. On fundus examination, dif-fuse fleck-like lesions were scattered both inside and out-side the arcades, while sharply demarcated areas ofmacular atrophy with foveal sparing, more pronouncedin the left eye, were visible.
CaseHPOFreeText:NA
CaseNotHPOs:NA
CaseNotHPOFreeText:
Genotyping Method:Next-Generation Sequencing (NGS), using theTruSight One Clinical Exome sequencing panel on anIllumina NexSeq500 platform, enriching for 4800 genesincluding ABCA4, CNGB3, ELOVL4, PROM1, and PRPH2
PreviouslyPublished:Under refernces?
Variant:WDR19 variants:the novel deletion at c.1777 + 1 within the donor splicingsite (class 4) and the rare c.1430 G>T variant causing theamino-acid substitution p.(Arg477Leu) (class 3) in the putative protein. Additionally, a heterozygous c.1793A>G(class 3) variant in the CDH23 gene was found, though it was deemed as not contributive to the patient’s clinical phenotype. All reported variants were confirmed throughSanger sequencing
ClinVar:NA
CAID:NA
SupplementalData:NA
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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The STGD patient from Family 12 is a compound heterozygous with p.Val931Met and a novel nonsense mutation at exon 33 (p.Glu1574X; Figure 1B). Disease onset for this patient was at age 43. Ophthalmic examination revealed moderate central retinal changes, decreased mfERG responses exclusively in the central 15 degrees, and decreased visual acuity.
Case#: Family 12 Proband, male, 43yo at onset, Portuguese
DiseaseAssertion: Stargardt
FamilyInfo: no affected family members in pedigree (Fig. 1)
CasePresentingHPOs: HP:0007663
CaseHPOFreeText: "The criteria for STGD phenotype included bilateral central vision loss and pigmentary macular lesions, normal caliber of retinal vessels, absence of pigmented bone spicules, and compatibility with recessive mode of inheritance." Moderate central retinal changes, decreased mfERG responses exclusively in the central 15 degrees
CaseNotHPOs:
CaseNotHPOFreeText:
PreviouslyPublished: n/a
Variant: p.Glu1574X; p.Val931Met. Several other polymorphisms also reported. ABCR400 gene chip microarray, DHPLC
ClinVar: 1460063
CAID: CA341283936
SupplementalData: n/a
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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4.4. Disease Course in Patients Harbouring p.(Gly1961Glu) or p.(Asn1868Ile) Allele
It is known that patients harbouring p.(Gly1961Glu) or p.(Asn1868Ile) allele share some common clinical characteristics and present with a milder disease phenotype than patients carrying other alleles. A typical feature of patients with p.(Gly1961Glu) is BEM, which is otherwise present in around 20% of all STGD1 patients.
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Sequencing of the coding region of ABCA4 and of the entire ABCA4 locus revealed one heterozygous ABCA4 variant c.3113C>T; p.(Ala1038Val). No other (likely) pathogenic coding or noncoding ABCA4 variants including copy number variants were identified.
ABCA4 variant revealed but not target of research and doesn't seem to amount to anything Variantc.3113C>T p.(Ala1038Val)
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Mutation scanning and direct DNA sequencing of all 50 exons of ABCR were completed for 150 families segregating recessive Stargardt disease (STGD1). ABCR variations were identified in 173 (57%) disease chromosomes, the majority of which represent missense amino acid substitutions. These ABCR variants were not found in 220 unaffected control individuals (440 chromosomes) but do cosegregate with the disease in these families with STGD1, and many occur in conserved functional domains. Missense amino acid substitutions located in the amino terminal one-third of the protein appear to be associated with earlier onset of the disease and may represent misfolding alleles. The two most common mutant alleles, G1961E and A1038V, each identified in 16 of 173 disease chromosomes, composed 18.5% of mutations identified. G1961E has been associated previously, at a statistically significant level in the heterozygous state, with age-related macular degeneration (AMD). Clinical evaluation of these 150 families with STGD1 revealed a high frequency of AMD in first- and second-degree relatives. These findings support the hypothesis that compound heterozygous ABCR mutations are responsible for STGD1 and that some heterozygous ABCR mutations may enhance susceptibility to AMD.
Annotating here since the full text is a PDF.
Case#: Family AR321 proband, US, 6yo at onset
DiseaseAssertion: Stargardt
FamilyInfo: proband and two other siblings are affected
CasePresentingHPOs: The essential and defining features of STGD were (1) pedigrees with at least one living affected individual compatible with autosomal recessive inheritance; (2) an ophthalmoscopically characteristic retinal disorder in families with both parents living; (3) bilateral central visual loss with both “beaten metal” elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, with or without yellow-pigment epithelial flecks in the macular and/or retinal “near periphery”; and (4) the characteristic fluorescein angiographic feature of a dark choroid (Blacharski 1988).
CaseHPOFreeText:
CaseNotHPOs:
CaseNotHPOFreeText: (1) evidence of autosomal dominant inheritance; (2) any history of night blindness, loss of peripheral vision, or "retinitis pigmentosa"; (3) cataracta complicata or cells in the vitreous; (4) substantially abnormal electroretinographic or electrooculographic responses; (5) no fluorescein angiography performed or no dark choroid documented; (6) neurological disease (including loss of cognition or seizures); 7) drug exposures (especially to antimalarial and agents known to cause crystalline retinopathies); or (8) any "atypical" maculopathies in which a unique diagnosis of STGD could not be established.
PreviouslyPublished: PMID: 8533764
Variant: c.3113C>T p.A1038V; c.1715G>C p.R572P . Heteroduplex and SSCP analyses were used to screen the 50 exons of ABCA4. Linkage analysis and haplotype analysis were previously performed
ClinVar: 99073
CAID: CA226919
SupplementalData: n/a
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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JB260 Stargardt ABCA4 c.6119G>A p.Arg2040Gln rs148460146 Zernant et al (2014)50 c.2879del p.Ala960Aspfs*17 N/A
Case#: Bryant Subject JB260, US
DiseaseAssertion: Stargardt
FamilyInfo:
CasePresentingHPOs: "Stargardt disease is a childhood-onset macular degeneration and is most commonly caused by mutations in ABCA4. Characteristic yellow flecks are typically seen under the macula during a fundus exam."
CaseHPOFreeText:
CaseNotHPOs:
CaseNotHPOFreeText:
GenotypingMethod: WES; previously screened using arrayed primer extension (APEX) multigene panels for the relevant disease and no disease-causing variants had been identified; PCR and Sanger for verification
PreviouslyPublished: n/a
Variant: c.6119G>A p.Arg2040Gln; c.2879del p.Ala960Aspfs*17
CAID: CA232815
SupplementalData:
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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See Supplementary Table S2 for a complete genotypic glossary of the cohort.
Case#: Patients were identified from the inherited retinal disease (IRD) database at UC San Diego (UCSD).
DiseaseAssertion: RP with macular edema
FamilyInfo:
CasePresentingHPOs:
CaseHPOFreeText: Dx of RP based on "a history of progressive peripheral vision loss or nyctalopia, and ocular examination findings of RP including bone spicule pigmentation, disc pallor and attenuated vessels and genetic confirmation."
CaseNotHPOs:
CaseNotHPOFreeText:
GenotypingMethod: Next-generation sequencing (NGS), exome sequencing, and/or targeted Sanger sequencing were the primary genetic testing approaches.
PreviouslyPublished: PMID:10206579 is referenced but it seems a reference to the variant and not the proband
Variant: c.6383A>G (p.His2128Arg); c.3G>T (p.Met1?). phase unknown
ClinVar: 99455
CAID: CA227399
SupplementalData: Variant is found in table S2
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and the narrowing of the medullary cavity of tubular bones (C) (diaphyseal stenosis).
Subject ID: Individual_2 Phenotype: Narrowing of the medullary cavity of tubular bones
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variant id lookup result: http://localhost:8001/test.html
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truncus arteriosus
Monarch lookup result: http://localhost:8001/test.html
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TMEM260
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TP53
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high arched palate
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000218
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TPM3
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axial muscle weakness
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003327
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Joint laxity
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001388
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Slender limbs
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001533
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carinatum
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000768
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Scoliosis
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650
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Tall stature
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000098
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large ears
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000400
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Midface hypoplasia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011800
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Open mouth appearance
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194
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Long face
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276
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aggressive behavior
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000718
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intellectual disability
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
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Developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
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allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA414193300
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Arachnodactyly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001166
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Joint laxity
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001388
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Slender limbs
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001533
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Scoliosis
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650
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Tall stature
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000098
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aortic root dilatation
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002616
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mitral regurgitation
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001653
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mitral valve prolapse
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001634
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large ears
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000400
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Midface hypoplasia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011800
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Open mouth appearance
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194
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Short philtrum
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322
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Long face
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276
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Hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
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aggressive behavior
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000718
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intellectual disability
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
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Developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
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allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA414193300
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Arachnodactyly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001166
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Camptodactyly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012385
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Joint laxity
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001388
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Slender limbs
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001533
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Scoliosis
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650
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Tall stature
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000098
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mild mitral valve regurgitation
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001653
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Midface hypoplasia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011800
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Open mouth appearance
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194
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Short philtrum
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322
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Long face
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276
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Hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
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intellectual disability
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
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Developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
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allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA414193300
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Arachnodactyly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001166
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Joint laxity
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001388
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Slender limbs
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001533
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Scoliosis
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650
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Tall stature
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000098
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small patent ductal arteriosus
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001643
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large ears
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000400
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Midface hypoplasia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011800
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Open mouth appearance
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194
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Short philtrum
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322
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Long face
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276
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Hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
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intellectual disability
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
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Developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
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allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA414193319
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NKAP
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NKAP
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allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA414193321
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Arachnodactyly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001166
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Camptodactyly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012385
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Joint laxity
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001388
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Slender limbs
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001533
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Pectus
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000768
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Pectus
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000767
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Scoliosis
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650
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Tall stature
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000098
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atrial septal defect
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001631
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large ears
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000400
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Open mouth appearance
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194
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Short philtrum
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322
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Long face
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276
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Hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
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intellectual disability
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
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Developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
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aortic dilatation
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004942
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small patent ductus arteriosus
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001643
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ventricular septal defect
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001629
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atrial septal defect
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001631
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mitral valve regurgitation
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001653
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aggressive behaviors
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000718
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attention deficit hyperactivity disorder
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0007018
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central obesity
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012743
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cryptorchidism
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000028
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Talipes equinovarus
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001762
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arachnodactyly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001166
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scoliosis
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650
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excavatum
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000767
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pectus carinatum
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000768
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short philtrum
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322
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large ears
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000400
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midface hypoplasia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011800
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open-mouth appearance
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194
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long face
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276
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hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
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tall stature
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000098
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intellectual disability (ID)
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
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developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
Tags
- HP:0000276
- hpoLookup
- HP:0002616
- allele:CA414193321
- HP:0001166
- ClinGen
- group:1
- HP:0001263
- HP:0001629
- HP:0011800
- HP:0000768
- HP:0001643
- hpoLookup:group
- HP:0001388
- HP:0001634
- monarchLookup
- individual:1
- pmid:undefined
- HP:0001290
- HP:0007018
- hpoLookup:individual
- HP:0000400
- HP:0004942
- gene:NKAP
- HP:0000098
- HP:0000767
- HP:0001653
- HP:0001249
- individual:5
- HP:0000194
- alleleLookup:individual
- individual:4
- HP:0001631
- HP:0001533
- HP:0012743
- allele:CA414193300
- individual:2
- individual:3
- HP:0000718
- HP:0000322
- HP:0001762
- allele:CA414193319
- HP:0000028
- alleleLookup
- HP:0012385
- HP:0002650
Annotators
URL
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www.sciencedirect.com www.sciencedirect.com
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Feeding difficulty
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011968
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Hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
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Anteverted nares
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000463
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Short nose
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003196
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Depressed nasal ridge
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000457
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Low-set ears
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369
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Widely spaced eyes
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000316
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Thick eyebrow
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000574
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Flat face
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012368
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Prominent forehead
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011220
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dolichocephaly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000268
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Speech impairment
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002167
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Developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
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Hyperphagia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002591
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Feeding difficulty
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011968
-
narrow palate
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000189
-
Anteverted nares
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000463
-
Short nose
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003196
-
Depressed nasal ridge
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000457
-
Depressed nasal bridg
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005280
-
Low-set ears
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369
-
Posteriorly rotated ears
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000358
-
Widely spaced eyes
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000316
-
High, arched eyebrow
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002553
-
Thick eyebrow
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000574
-
Flat face
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012368
-
Prominent forehead
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011220
-
dolichocephaly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000268
-
Speech impairment
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002167
-
Developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
-
allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA915940579
-
allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA411033555
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/72912/
-
hyperphagia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002591
-
anteverted nares
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000463
-
short nose
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003196
-
low-set ears
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369
-
widely spaced eyes
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000316
-
thick eyebrows
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000574
-
flat face
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012368
-
dolichocephaly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000268
-
speech impairment
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002167
-
severe developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011344
-
MN1
Tags
- HP:0002591
- hpoLookup
- HP:0002167
- HP:0000463
- allele:CA411033555
- ClinGen
- group:1
- HP:0000268
- HP:0001263
- HP:0000574
- HP:0012368
- hpoLookup:group
- monarchLookup
- individual:1
- pmid:undefined
- HP:0001290
- hpoLookup:individual
- allele:CA915940579
- HP:0000369
- gene:MN1
- HP:0011344
- HP:0002553
- alleleLookup:individual
- variantLookup:individual
- HP:0005280
- individual:2
- HP:0003196
- variantLookup
- individual:3
- HP:0000358
- HP:0000457
- variant:72912
- HP:0000189
- alleleLookup
- HP:0000316
- HP:0011968
- HP:0011220
Annotators
URL
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth
PMID: 26160855
Gene: HACD1
Disease: Congenital Myopathy
Tags
Annotators
URL
-
-
www.sciencedirect.com www.sciencedirect.com
-
POLR2A
-
-
www.sciencedirect.com www.sciencedirect.com
-
Gowers’ sign
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003391
-
-
www.sciencedirect.com www.sciencedirect.com
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Blood
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0410211
-
fiber degeneration
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0100295
-
SGCG
-
-
reg.clinicalgenome.org reg.clinicalgenome.org
-
allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA915940549
-
-
reg.clinicalgenome.org reg.clinicalgenome.org
-
allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA398917343
-
-
www.sciencedirect.com www.sciencedirect.com
-
allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399189115
-
allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399196709
-
allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA398915284
-
allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399193661
-
allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399185143
-
down-slanting eyelid
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0200006
-
short proximal extremities
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0009815
-
3
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001947
-
3
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001942
-
8
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001763
-
5
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001763
-
8
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001382
-
5
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001382
-
4
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002415
-
6
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000175
-
8
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002705
-
5
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002705
-
3
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002705
Tags
- HP:0001947
- hpoLookup
- individual:5
- alleleLookup:individual
- HP:0001942
- ClinGen
- gene:TAOK1
- individual:4
- individual:6
- allele:CA399189115
- individual:2
- individual:3
- HP:0200006
- HP:0002705
- allele:CA398915284
- HP:0000175
- monarchLookup
- individual:1
- allele:CA399193661
- HP:0002415
- alleleLookup
- hpoLookup:individual
- HP:0001382
- allele:CA399196709
- HP:0001763
- HP:0009815
- individual:8
- allele:CA399185143
Annotators
URL
-
-
reg.clinicalgenome.org reg.clinicalgenome.org
-
allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399193709
-