Combined deficiency of factor V and factor VIII
General Information (adopted from Orphanet):
| Synonyms, Signs: |
F5F8D Familial multiple coagulation factor deficiency FV and FVIII combined deficiency |
| Number of Symptoms | 4 |
| OrphanetNr: | 35909 |
| OMIM Id: |
227300
227310 613625 |
| ICD-10: |
D68.8 |
| 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: | 0.5 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare hemorrhagic disorder due to a constitutional coagulation factors defect
-Rare genetic disease -Rare hematologic disease |
Symptom Information:
|
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(HPO:0003225) | Reduced factor V activity | 5 / 7739 | ||||
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(HPO:0001892) | Abnormal bleeding | 85 / 7739 | ||||
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(HPO:0003125) | Reduced factor VIII activity | 13 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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