Thrombophilia due to thrombomodulin defect

Preferred Label : Thrombophilia due to thrombomodulin defect;

Symbol : THPH12;

CISMeF acronym : THPH12;

Type : Phenotype, molecular basis known;

Description : The role of thrombomodulin in thrombosis is controversial. Although there have been several reports of THBD mutations in patients with venous thrombosis, clear functional evidence for the pathogenicity of these mutations is lacking. In a review, Anastasiou et al. (2012) noted that thrombomodulin has a major role in capillary beds and that THBD variation may not be associated with large vessel thrombosis. It is likely that genetic or environmental risk factors in addition to THBD variation are involved in the pathogenesis of venous thrombosis. However, variation in the THBD gene may be associated with increased risk for arterial thrombosis and myocardial infarction. This association may be attributed to the fact that thrombomodulin can modulate inflammatory processes, complement activity, and fibrinolysis.;

Prefixed ID : #614486;

Details

Origin ID

614486;

UMLS CUI

C3280976;

Automatic exact mappings (from CISMeF team)
- Familial thrombomodulin anomalies [ORDO Disease]
- THBD wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Thrombomodulin-related bleeding disorder [ORDO Disease]
- Thrombomodulin-related bleeding disorder (disorder) [SNOMED CT concept]
- thrombophilia due to thrombomodulin defect [DO Concept]
- thrombophilia due to thrombomodulin defect [MeSH concept]
- thrombophilia due to thrombomodulin defect [MeSH Supplementary Concept]
DO Cross reference
- thrombophilia due to thrombomodulin defect [DO Concept]
Genes related to phenotype
- Thrombomodulin [OMIM gene]
HPO term(s)
- Deep venous thrombosis [HPO term]
- Hypercoagulability [HPO term]
ORDO concept(s)
- Thrombomodulin-related bleeding disorder [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Thrombomodulin-related bleeding disorder [ORDO Disease]
- Thrombomodulin-related bleeding disorder (disorder) [SNOMED CT concept]
- thrombophilia due to thrombomodulin defect [MeSH Supplementary Concept]
- thrombophilia due to thrombomodulin defect [MeSH concept]
- thrombophilia due to thrombomodulin defect [DO Concept]

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