Vitamin k-dependent clotting factors, combined deficiency of, 2

Preferred Label : Vitamin k-dependent clotting factors, combined deficiency of, 2;

Symbol : VKCFD2;

CISMeF acronym : VKCFD2;

Type : Phenotype, molecular basis known;

Description : 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 hemorrhage in the first weeks of life, sometimes leading to a fatal outcome (Fregin et al., 2002).;

Prefixed ID : #607473;

Details

Origin ID

607473;

UMLS CUI

C1843832;

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, type 2 [MeSH Supplementary Concept]
- vitamin K-Dependent clotting factors, combined deficiency of, type 2 [MeSH concept]
Genes related to phenotype
- Vitamin k epoxide reductase complex, subunit 1 [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Autosomal recessive inheritance [HPO term]
- Reduced factor IX activity [HPO term]
- Reduced factor VII activity [HPO term]
- Reduced factor X activity [HPO term]
- Reduced prothrombin antigen [HPO term]
- obsolete Reduced prothrombin activity [HPO term]
ORDO concept(s)
- Hereditary combined deficiency of vitamin K-dependent clotting factors [ORDO Disease]
See also inter- (CISMeF)
- VKORC1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- vitamin K-Dependent clotting factors, combined deficiency of, type 2 [MeSH Supplementary Concept]
- vitamin K-Dependent clotting factors, combined deficiency of, type 2 [MeSH concept]
Validated automatic mappings to NTBT
- Hereditary combined deficiency of vitamin K-dependent clotting factors [ORDO Disease]

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