Bleeding diathesis due to a collagen receptor defect
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 4 |
| OrphanetNr: | 73271 |
| OMIM Id: |
614200
614201 |
| ICD-10: |
D69.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | < 20 cases [Orphanet] |
| Inheritance: |
Unknown [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare hemorrhagic disorder due to a platelets receptors defect
-Rare genetic disease -Rare hematologic disease |
Symptom Information:
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(HPO:0000978) | Bruising susceptibility | 123 / 7739 | ||||
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(HPO:0001873) | Thrombocytopenia | 224 / 7739 | ||||
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(HPO:0003577) | Congenital onset | 133 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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