Thrombophilia due to protein C deficiency, autosomal dominant

Preferred Label : Thrombophilia due to protein C deficiency, autosomal dominant;

Symbol : THPH3;

CISMeF acronym : THPH3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Protein C deficiency, autosomal dominant; Proc deficiency, autosomal dominant;

Included titles and symbols : Protein C deficiency, acquired;

Description : Heterozygous protein C deficiency is characterized by recurrent venous thrombosis. However, many adults with heterozygous disease may be asymptomatic (Millar et al., 2000). Individuals with decreased amounts of protein C are classically referred to as having type I deficiency and those with normal amounts of a functionally defective protein as having type II deficiency (Bertina et al., 1984). Acquired protein C deficiency is a clinically similar disorder caused by development of an antibody against protein C. Clouse and Comp (1986) reviewed the structural and functional properties of protein C and discussed both hereditary and acquired deficiency of protein C.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the protein C gene (PROC, 612283.0001);

Laboratory abnormalities : Plasma protein C deficiency;

Prefixed ID : #176860;

Details

Origin ID

176860;

UMLS CUI

C2674321;

Automatic exact mappings (from CISMeF team)
- PROC wt Allele [NCIt concept]
- Severe hereditary thrombophilia due to congenital protein C deficiency [ORDO Disease]
- autosomal dominant thrombophilia due to protein C deficiency [DO Concept]
- protein C deficiency, acquired [MeSH concept]
- protein C deficiency, acquired [MeSH Supplementary Concept]
- thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [MeSH concept]
- thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [MeSH Supplementary Concept]
- thrombophilia, hereditary, due to protein S deficiency, autosomal dominant [MeSH Supplementary Concept]
- thrombophilia, hereditary, due to protein S deficiency, autosomal dominant [MeSH concept]
Broader ORDO disease(s)
- Severe hereditary thrombophilia due to congenital protein C deficiency [ORDO Disease]
DO Cross reference
- autosomal dominant thrombophilia due to protein C deficiency [DO Concept]
Genes related to phenotype
- Protein C [OMIM gene]
HPO term(s)
- Abnormality of the eye [HPO term]
- Abnormality of the nervous system [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral venous thrombosis [HPO term]
- Deep venous thrombosis [HPO term]
- Hypercoagulability [HPO term]
- Pulmonary embolism [HPO term]
- Reduced protein C activity [HPO term]
- Superficial thrombophlebitis [HPO term]
- Warfarin-induced skin necrosis [HPO term]
ORDO concept(s)
- Severe hereditary thrombophilia due to congenital protein C deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal dominant thrombophilia due to protein C deficiency [DO Concept]
- thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [MeSH Supplementary Concept]
- thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients