Thrombophilia Due To Thrombin Defect; Thph1

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 ThrombophiliaTHPH2 (OMIM ) is caused by mutation in the F5 gene (OMIM ) on chromosome 1q23; THPH3 (OMIM ) and THPH4 (OMIM ) are both caused by mutation in the PROC gene (OMIM ) on 2q; THPH5 (OMIM ) and THPH6 (OMIM ) are caused by mutation in the PROS1 gene (OMIM ) on 3q11; THPH7 (OMIM ) is caused by mutation in the AT3 gene (OMIM ) on 1q25; THPH8 (OMIM ) is caused by mutation in the F9 gene (OMIM ) on Xq27; THPH9 (OMIM ) is associated with decreased release of tissue plasminogen activator (PLAT ); THPH10 (OMIM ) is caused by mutation in the HCF2 gene (OMIM ) on 22q11; THPH11 (OMIM ) is caused by mutation in the HRG gene (OMIM ) on 3q27; and THPH12 (OMIM ) is associated with variation in the THBD gene (OMIM ) on 20p11.Susceptibility to thrombosis has also been associated with variation in additional genes, including MTHFR ({607093.0003}); F13B ({134580.0003}); plasminogen activator inhibitor (SERPINE1 ); and several genes encoding fibrinogen (FGA, {134820}; FGB, {134830}; FGG, {134850}). Variation in the SERPINA10 (see {605271.0001}), KNG1 (OMIM ) and HABP2 (OMIM ) genes has also been reported.Protection against venous thrombosis is associated with variation in the F13A1 gene (OMIM ) on 6p25.

Clinical Features

Phenotypes and symptoms related to Thrombophilia Due To Thrombin Defect; Thph1

  • Neoplasm
  • Gastrointestinal hemorrhage
  • Venous thrombosis
  • Thromboembolism
  • Pulmonary embolism
  • Deep venous thrombosis
  • Hypercoagulability
  • Cerebral venous thrombosis
  • Recurrent deep vein thrombosis
  • Recurrent thrombophlebitis

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Thrombophilia Due To Thrombin Defect; Thph1 Is also known as thrombophilia due to factor 2 defect, venous thromboembolism, venous thrombosis.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Thrombophilia Due To Thrombin Defect; Thph1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Prothrombin.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

F2
Specificity
100 %
Genes
25 %
Prothrombin Mutation Panel.

By Baylor Miraca Genetics Laboratories (United States).

F2
Specificity
100 %
Genes
25 %
Thrombophilia Mutation Panel.

By Baylor Miraca Genetics Laboratories (United States).

F2, F5, MTHFR
Specificity
67 %
Genes
50 %
Prothombin 20210A.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

F2
Specificity
100 %
Genes
25 %
Thrombophilia.

By Center for Human Genetics, Inc (United States).

F2
Specificity
100 %
Genes
25 %
Prothrombin A20210G Mutation Analysis.

By Molecular Pathology Laboratory University of Pennsylvania Health System (United States).

F2
Specificity
100 %
Genes
25 %
Prothrombin 20210G>A.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).

F2
Specificity
100 %
Genes
25 %
Prothrombin.

By Center for Genetics at Saint Francis Saint Francis Hospital (United States).

F2
Specificity
100 %
Genes
25 %

You can get up to 206 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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