FACTOR VIII AND FACTOR IX, COMBINED DEFICIENCY OF

General Information (adopted from Orphanet):

Synonyms, Signs: FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY II
FMFD II
F8F9D
Number of Symptoms 4
OrphanetNr:
OMIM Id: 134510
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.

Symptom Information: Sort by abundance 

1
 (HPO:0011858) Reduced factor IX activity 7 / 7739
2
 (HPO:0003125) Reduced factor VIII activity 13 / 7739
3
 (OMIM) Combined factor VIII and factor IX deficiency 1 / 7739
4
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Soff and Levin (1981) concluded that the combination of factor VIII and factor IX deficiency is a single gene, autosomal dominant disorder. The families and cases they found to be acceptable included those reported by Ingram (1956), Robertson ...