FACTOR V EXCESS WITH SPONTANEOUS THROMBOSIS
General Information (adopted from Orphanet):
Synonyms, Signs:
|
PROACCELERIN EXCESS
THROMBOPHILIA WITH ELEVATED FACTOR V
|
Number of Symptoms
|
5
|
OrphanetNr:
|
|
OMIM Id:
|
134400
|
ICD-10:
|
|
UMLs:
|
|
MeSH:
|
|
MedDRA:
|
|
Snomed:
|
|
Prevalence, inheritance and age of onset:
Prevalence:
|
No data available.
|
Inheritance:
|
Autosomal dominant inheritance
[Omim]
|
Age of onset:
|
|
Disease classification (adopted from Orphanet):
Parent Diseases:
|
No data available.
|
|
|
|
|
|
|
|
|
1
|
(HPO:0005315)
|
Peripheral artery occlusive disease |
|
|
|
|
7 / 7739
|
2
|
(HPO:0011996)
|
Elevated factor V activity |
|
|
|
|
1 / 7739
|
3
|
(HPO:0004419)
|
Recurrent thrombophlebitis |
|
|
|
|
4 / 7739
|
4
|
(HPO:0002204)
|
Pulmonary embolism |
|
|
|
|
26 / 7739
|
5
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
ClinVar (via SNiPA)
Gene symbol |
Variation |
Clinical significance |
Reference |