Thrombophilia due to thrombin defect

Preferred Label : Thrombophilia due to thrombin defect;

Symbol : THPH1;

CISMeF acronym : THPH1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Thrombophilia due to factor 2 defect; Venous thrombosis; Venous thromboembolism;

Included titles and symbols : Thrombosis, protection against;

Description : Thrombophilia is a multifactorial disorder of inappropriate clot formation resulting from an interaction of genetic, acquired, and circumstantial predisposing factors. Venous thromboembolism most commonly manifests as deep vein thrombosis, which may progress to pulmonary embolism if the clot dislodges and travels to the lung. Other manifestations include thromboses of the cerebral or visceral veins and recurrent pregnancy loss (summary by Seligsohn and Lubetsky, 2001 and Varga and Kujovich, 2012). - Genetic Heterogeneity of Thrombophilia;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the coagulation factor 2 gene (F2, 176930.0009);

Prefixed ID : #188050;

Details

Origin ID

188050;

UMLS CUI

C3160733;

Automatic exact mappings (from CISMeF team)
- F2 wt Allele [NCIt concept]
- Non rare thrombophilia [ORDO Disease]
- Venous Thrombosis [NCIt concept]
- Venous thrombosis [PASCAL descriptor]
- blood clots [MedlinePlus Topic]
- thrombophilia due to thrombin defect [DO Concept]
- venous thrombosis [Artificial nutrition thesaurus concept]
- venous thrombosis [MeSH concept]
- venous thrombosis [Radlex concept]
- venous thrombosis, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- Venous Thromboembolism [NCIt concept]
- Venous thromboembolism [ICD-11 Category]
- Venous thromboembolism [MedDRA LLT]
- venous thromboembolism [Disease (Nov.)]
- venous thromboembolism [MeSH Descriptor]
- venous thromboembolism [Blood Transfusion thesaurus concept]
DO Cross reference
- prothrombin thrombophilia [DO Concept]
- thrombophilia due to thrombin defect [DO Concept]
False automatic mappings
- Thrombosis venous [MedDRA LLT]
- VENOUS THROMBOSIS [WHO-ART Included Term]
- Venous thrombosis [HPO term]
- Venous thrombosis [MedDRA Preferred Term]
- Venous thrombosis (disorder) [SNOMED CT concept]
- Venous thrombosis NOS [MedDRA LLT]
- deep vein thrombosis [MedlinePlus Topic]
- venous thrombosis [MeSH Descriptor]
Genes related to phenotype
- 5,10-methylenetetrahydrofolate reductase [OMIM gene]
- Coagulation factor II [OMIM gene]
- Factor XIII, a1 subunit [OMIM gene]
- Hyaluronan-binding protein 2 [OMIM gene]
HPO term(s)
- Abnormal platelet aggregation in response to various agents [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral venous thrombosis [HPO term]
- Childhood onset [HPO term]
- Deep venous thrombosis [HPO term]
- Pulmonary embolism [HPO term]
- Recurrent thrombophlebitis [HPO term]
- Thromboembolism [HPO term]
ORDO concept(s)
- Non rare thrombophilia [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- thrombophilia due to thrombin defect [DO Concept]
Validated automatic mappings to NTBT
- vein thrombosis [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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