VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2

General Information (adopted from Orphanet):

Synonyms, Signs: VKCFD2
Number of Symptoms 6
OrphanetNr:
OMIM Id: 607473
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001892) Abnormal bleeding 85 / 7739
2
 (HPO:0012201) Reduced prothrombin activity 4 / 7739
3
 (HPO:0008169) Reduced factor VII activity 4 / 7739
4
 (HPO:0011858) Reduced factor IX activity 7 / 7739
5
 (HPO:0008321) Reduced factor X activity 4 / 7739
6
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Deficiency of all vitamin K-dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. Familial multiple coagulation factor deficiency is rare. Clinical symptoms of the disease include episodes of intracranial ...
Clinical Description OMIM Oldenburg et al. (2000) described 2 pedigrees showing an autosomal recessive transmission of familial multiple coagulation factor deficiency. The first pedigree was a consanguineous kindred of Lebanese origin with 8 children alive. There were 2 further children who ...
Molecular genetics OMIM In 2 unrelated index patients with VKCFD2 and their affected sibs, Rost et al. (2004) identified an arg98-to-trp mutation in vitamin K epoxide reductase (608547.0001).