Description:
EHLERS-DANLOS SYNDROME: TYPE IV; ARTERIAL, ECCHYMOTIC TYPE
COLLAGEN, TYPE III, ALPHA-1; COL3A1
NEUROFIBROMATOSIS, TYPE I; NF1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Family Member
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2
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Family History
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N
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Relation to Proband
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sister
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
COL3A1 |
| Chromosomal Location |
2q31 |
| Allelic Variant 1 |
; EHLERS-DANLOS SYNDROME, TYPE IV |
| Identified Mutation |
766delA |
| Remarks |
Clinically affected; also has neurofibromatosis type I; see GM22607 Fibroblast; midface hypoplasia; scarred TM right; dental crowding; micrognathia; small eyes; edema; soft skin; multiple neurofibromas; cigarette paper scarring; cafe-au-lait spots; scoliosis; kyphosis; hyperextension in shoulders, elbows, knees, and mildly in CMC joints and thumbs; pes planus; Beighton score 4/9; 3 to 5 tension migraines per week; problems hearing with background noise; pain in eyes; problems walking; constipation; slight narrowing in the supraclinoid cavernous portion of the right ICA; mild disc disease at C6-C7, posterior fossa arachnoid cyst inferiorly in C-spine; slight deformity in L1 vertebral body possibly due to previous trauma; mild disc buldge at L5-S1 with central annular tear; mild disc desiccation at L4-L5; minimal facet arthrosis at L4-S1; affected sister is GM22608; donor subject has a 1 bp deletion at nucleotide 766 of the COL3A1 gene [c.766delA] |
| Kellogg G, Thorsson B, Cai Y, Wisotzkey R, Pollock A, Akana M, Fox R, Jansen M, Gudmundsson EF, Patel B, Chang C, Jaremko M, Puig O, Gudnason V, Emilsson V, Molecular screening of familial hypercholesterolemia in Icelanders Scandinavian journal of clinical and laboratory investigation:1-7 2020 |
| PubMed ID: 32706999 |
| Gene Cards |
COL3A1 |
| Gene Ontology |
GO:0004857 enzyme inhibitor activity |
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GO:0005099 Ras GTPase activator activity |
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GO:0005201 extracellular matrix structural constituent |
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GO:0005581 collagen |
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GO:0005586 collagen type III |
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GO:0005737 cytoplasm |
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GO:0006817 phosphate transport |
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GO:0007265 Ras protein signal transduction |
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GO:0008015 circulation |
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GO:0008151 cell growth and/or maintenance |
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GO:0008285 negative regulation of cell proliferation |
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GO:0009887 organogenesis |
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GO:0045786 negative regulation of cell cycle |
| NCBI Gene |
Gene ID:1281 |
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Gene ID:4763 |
| NCBI GTR |
120180 COLLAGEN, TYPE III, ALPHA-1; COL3A1 |
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130050 EHLERS-DANLOS SYNDROME, VASCULAR TYPE; EDSVASC |
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162200 NEUROFIBROMATOSIS, TYPE I; NF1 |
| OMIM |
120180 COLLAGEN, TYPE III, ALPHA-1; COL3A1 |
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130050 EHLERS-DANLOS SYNDROME, VASCULAR TYPE; EDSVASC |
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162200 NEUROFIBROMATOSIS, TYPE I; NF1 |
| Omim Description |
EDS IV |
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EDS4 |
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EHLERS-DANLOS SYNDROME, ARTERIAL TYPE |
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EHLERS-DANLOS SYNDROME, ECCHYMOTIC TYPE |
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EHLERS-DANLOS SYNDROME, SACK-BARABAS TYPE |
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EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT |
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