Thrombophilia due to protein s deficiency, autosomal dominant

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

Symbol : THPH5;

CISMeF acronym : THPH5;

Type : Phenotype, molecular basis known;

Description : Heterozygous protein S deficiency, like protein C deficiency (176860), is characterized by recurrent venous thrombosis. Bertina (1990) classified protein S deficiency into 3 clinical subtypes based on laboratory findings. Type I refers to deficiency of both free and total protein S as well as decreased protein S activity; type II shows normal plasma values, but decreased protein S activity; and type III shows decreased free protein S levels and activity, but normal total protein S levels. Approximately 40% of protein S circulates as a free active form, whereas the remaining 60% circulates as an inactive form bound to C4BPA (120830). Zoller et al. (1995) observed coexistence of type I and type III;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the protein S gene (PSA, 176880.0002);

Laboratory abnormalities : Absent/reduced protein S and normal total proteins in heterozygote;

Prefixed ID : #612336;

Details

Origin ID

612336;

UMLS CUI

C3278211;

Automatic exact mappings (from CISMeF team)
- PROS1 wt Allele [NCIt concept]
- Protein S acquired deficiency [ORDO Disease]
- autosomal dominant thrombophilia due to protein S deficiency [DO Concept]
CISMeF manual mappings
- thrombophilia, hereditary, due to protein S deficiency, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant thrombophilia due to protein S deficiency [DO Concept]
Genes related to phenotype
- Protein s [OMIM gene]
HPO term(s)
- Arterial thrombosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral venous thrombosis [HPO term]
- Hypercoagulability [HPO term]
- Pulmonary embolism [HPO term]
- Purpura [HPO term]
- Reduced protein S activity [HPO term]
- Superficial thrombophlebitis [HPO term]
- Warfarin-induced skin necrosis [HPO term]
ORDO concept(s)
- Severe hereditary thrombophilia due to congenital protein S deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal dominant thrombophilia due to protein S deficiency [DO Concept]

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