Hemophilia A
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Factor VIII deficiency |
| Number of Symptoms | 3 |
| OrphanetNr: | 98878 |
| OMIM Id: |
134500
306700 |
| ICD-10: |
D66 |
| UMLs: |
C0019069 |
| MeSH: |
D006467 |
| MedDRA: |
10016080 |
| Snomed: |
234440005 28293008 |
Prevalence, inheritance and age of onset:
| Prevalence: | 7 of 100 000 [Orphanet] |
| Inheritance: |
X-linked recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Hemophilia
-Rare genetic disease -Rare hematologic disease |
Symptom Information:
|
|
(HPO:0001892) | Abnormal bleeding | 85 / 7739 | ||||
|
|
(HPO:0003125) | Reduced factor VIII activity | 13 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|