Description:
EHLERS-DANLOS SYNDROME: TYPE UNCLASSIFIED
VON WILLEBRAND DISEASE - 193400, 277480 OR 314560
STORAGE POOL PLATELET DISEASE
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| 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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Race
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Hispanic/Latino
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Ethnicity
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Hispanic/Latino
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Ethnicity
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MEXICAN/SPANISH
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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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| Remarks |
Clinically affected; onset of symptoms at age 8 years; bilateral patellar subluxation with reconstruction; orthotics; also has Von Willebrand disease and storage pool platelet disease. |
| Gene Ontology |
GO:0005515 protein binding |
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GO:0005578 extracellular matrix |
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GO:0007155 cell adhesion |
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GO:0009611 response to wounding |
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GO:0030168 platelet activation |
| NCBI Gene |
Gene ID:7450 |
| NCBI GTR |
130090 EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED |
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185050 STORAGE POOL PLATELET DISEASE |
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193400 VON WILLEBRAND DISEASE, TYPE 1; VWD1 |
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277480 VON WILLEBRAND DISEASE, TYPE 3; VWD3 |
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314560 VON WILLEBRAND DISEASE, X-LINKED FORM |
| OMIM |
130090 EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED |
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185050 STORAGE POOL PLATELET DISEASE |
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193400 VON WILLEBRAND DISEASE, TYPE 1; VWD1 |
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277480 VON WILLEBRAND DISEASE, TYPE 3; VWD3 |
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314560 VON WILLEBRAND DISEASE, X-LINKED FORM |
| Omim Description |
EDS, UNSPECIFIED TYPE |
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EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED |
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