VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1

General Information (adopted from Orphanet):

Synonyms, Signs: FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY III
MULTIPLE COAGULATION FACTOR DEFICIENCY III
FACTORS II, VII, IX, AND X, COMBINED DEFICIENCY OF
GLUTAMIC ACID, DEFICIENT GAMMA-CARBOXYLATION OF
VITAMIN K-DEPENDENT COAGULATION DEFECT
FMFD III
VKCFD1
VKCFD
MCFD3
Number of Symptoms 11
OrphanetNr:
OMIM Id: 277450
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:0000421) Epistaxis 85 / 7739
2
(HPO:0003196) Short nose 264 / 7739
3
(HPO:0009882) Short distal phalanx of finger 125 / 7739
4
(HPO:0010655) Epiphyseal stippling 32 / 7739
5
(HPO:0005261) Joint hemorrhage 17 / 7739
6
(HPO:0000978) Bruising susceptibility 123 / 7739
7
(HPO:0003645) Prolonged partial thromboplastin time 20 / 7739
8
(OMIM) Vitamin K-dependent gamma-carboxylation defect 1 / 7739
9
(OMIM) Variably abnormal prothrombin time 1 / 7739
10
(OMIM) Neonatal bleeding tendency 1 / 7739
11
(OMIM) Deficiency of procoagulant factors II, VII, IX, and X and natural anticoagulant proteins C and S 1 / 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. Acquired forms of the disorder can be caused by intestinal malabsorption of vitamin K. Familial multiple ...
Clinical Description OMIM Factor II (176930), factor X (613872), factor VII (613878), and factor IX (300746) all require vitamin K for their synthesis. It is theoretically possible that a genetic disorder of the metabolism of vitamin K might lead to a ...
Molecular genetics OMIM In an editorial on variants of vitamin K-dependent coagulation factors, Bertina et al. (1979) stated that 9 defective variants of factor II, 5 variants of factor X, and many variants (about 180 pedigrees) of factor IX have been ...