Heparin cofactor II deficiency

Preferred Label : Heparin cofactor II deficiency;

CISMeF acronym : THPH10;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Thrombophilia due to heparin cofactor II deficiency; Hcf2 deficiency; Hcf II deficiency; THPH10;

Description : Heparin cofactor II (HCF2; 142360) rapidly inhibits thrombin in plasma in the presence of dermatan sulfate or heparin. Congenital HCF2 deficiency is associated with thromboembolism and is classified into type I (quantitative) or type II (qualitative) deficiency (Kondo et al., 1996).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the heparin cofactor II gene (HCF2, 142360.0001);

Laboratory abnormalities : Heparin cofactor II deficiency;

Prefixed ID : #612356;

Details

Origin ID

612356;

UMLS CUI

C0398626;

Automatic exact mappings (from CISMeF team)
- Decreased level of heparin co-factor II [HPO term]
- SERPIND1 wt Allele [NCIt concept]
- heparin cofactor II deficiency [DO Concept]
Currated CISMeF NLP mapping
- Heparin cofactor II deficiency (disorder) [SNOMED CT concept]
- heparin cofactor 2 deficiency [Disease (Nov.)]
- heparin cofactor II deficiency [MeSH concept]
- heparin cofactor II deficiency [MeSH Supplementary Concept]
DO Cross reference
- heparin cofactor II deficiency [DO Concept]
Genes related to phenotype
- Heparin cofactor II [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Disseminated intravascular coagulation [HPO term]
- Post-angioplasty coronary artery restenosis [HPO term]
- Recurrent deep vein thrombosis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Heparin cofactor II deficiency [MedDRA Preferred Term]
- Heparin cofactor II deficiency (disorder) [SNOMED CT concept]
- heparin cofactor 2 deficiency [Disease (Nov.)]
- heparin cofactor II deficiency [MeSH Supplementary Concept]
- heparin cofactor II deficiency [MeSH concept]
- heparin cofactor II deficiency [DO Concept]

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