Vitamin k-dependent clotting factors, combined deficiency of, 1

Preferred Label : Vitamin k-dependent clotting factors, combined deficiency of, 1;

Symbol : VKCFD1;

CISMeF acronym : MCFD3; VKCFD; VKCFD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : VKCFD; Glutamic acid, deficient gamma-carboxylation of; Multiple coagulation factor deficiency III; Vitamin k-dependent coagulation defect; MCFD3; Familial multiple coagulation factor deficiency III; Fmfd III; Factors II, VII, ix, and X, combined deficiency of;

Description : 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 coagulation factor deficiency is rare. Clinical symptoms of the disease include episodes of intracranial hemorrhage in the first weeks of life, sometimes leading to a fatal outcome. The pathomechanism is based on a reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors, as well as the anticoagulant factors protein C (612283) and protein S (176880). Posttranslational gamma-carboxylation of proteins enables the calcium-dependent attachment of the proteins to the phospholipid bilayer of membranes, an essential prerequisite for blood coagulation. Vitamin K1 acts as a cofactor for the vitamin K-dependent carboxylase in liver microsomes, GGCX. - Genetic Heterogeneity of Combined Deficiency of Vitamin K-Dependent Clotting Factors Combined deficiency of vitamin K-dependent clotting factors-2 (VKFCD2; 607473) is caused by mutation in the gene encoding vitamin K epoxide reductase (VKORC1; 608547) on chromosome 16p12-q21.;

Inheritance : Autosomal recessive;

Prefixed ID : #277450;

Details

Origin ID

277450;

UMLS CUI

C1848534;

Automatic exact mappings (from CISMeF team)
- Combined deficiency of vitamin K-dependent clotting factors [ICD-11 Subcategory]
- gamma-glutamyl carboxylase [ORDO Gene]
- gamma-glutamyl carboxylase [HGNC gene]
Broader ORDO disease(s)
- Hereditary combined deficiency of vitamin K-dependent clotting factors [ORDO Disease]
Currated CISMeF NLP mapping
- vitamin K-Dependent clotting factors, combined deficiency of, 1 [MeSH concept]
- vitamin K-Dependent clotting factors, combined deficiency of, 1 [MeSH Supplementary Concept]
Genes related to phenotype
- Gamma-glutamyl carboxylase [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Congenital bleeding diathesis [HPO term]
- Ecchymosis [HPO term]
- Epiphyseal stippling [HPO term]
- Epistaxis [HPO term]
- Hemarthroses [HPO term]
- Joint hemorrhage [HPO term]
- Prolonged partial thromboplastin time [HPO term]
- Short distal phalanx of finger [HPO term]
- Short nose [HPO term]
ORDO concept(s)
- Hereditary combined deficiency of vitamin K-dependent clotting factors [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary combined deficiency of vitamin K-dependent clotting factors [ORDO Disease]
- combined deficiency of vitamin K-dependent clotting factors 1 [DO Concept]
- vitamin K-Dependent clotting factors, combined deficiency of, 1 [MeSH Supplementary Concept]
- vitamin K-Dependent clotting factors, combined deficiency of, 1 [MeSH concept]
Validated automatic mappings to NTBT
- Hereditary combined deficiency of vitamin K-dependent clotting factors [ORDO Disease]
- Hereditary combined deficiency of vitamin K-dependent clotting factors (disorder) [SNOMED CT concept]

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