FACTOR VII AND FACTOR VIII, COMBINED DEFICIENCY OF

General Information (adopted from Orphanet):

Synonyms, Signs: MULTIPLE COAGULATION FACTOR DEFICIENCY IV
FMFD IV
FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY IV
MCFD4
Number of Symptoms 6
OrphanetNr:
OMIM Id: 134430
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:0002584) Intestinal bleeding 16 / 7739
2
(HPO:0008169) Reduced factor VII activity 4 / 7739
3
(HPO:0003125) Reduced factor VIII activity 13 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
(OMIM) Recurrent gastrointestinal bleeding 1 / 7739
6
(OMIM) Combined factor VII and VIII deficiency 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Girolami et al. (1976) described combined deficiency of factors VII and VIII in 6 members of a family. Antigen levels were normal or near normal, suggesting that the defect was one of activation of the 2 factors. ...