Thrombophilia Due To Activated Protein C Resistance; Thph2

Description

Thrombophilia due to activated protein C resistance is due to a mutation in the F5 gene that renders factor V resistant to cleavage and inactivation by activated protein C (PROC ) and results in a tendency to thrombosis.See also factor V deficiency (OMIM ), an allelic disorder resulting in a hemorrhagic diathesis due to lack of factor V.The most common mutation that causes this disorder is referred to as factor V Leiden (R506Q; {612309.0001}), named after the town in the Netherlands where Bertina et al. (1994) discovered the defect. Homozygosity increases the risk of thrombotic complications to a greater extent than heterozygosity. However, heterozygous presence of the mutation may be combined with defects in other genes in the clotting pathway to contribute to the disorder. Expressivity is variable and influenced by environment.

Clinical Features

Top most frequent phenotypes and symptoms related to Thrombophilia Due To Activated Protein C Resistance; Thph2

  • Patent ductus arteriosus
  • Scarring
  • Abnormal bleeding
  • Sepsis
  • Purpura
  • Shock
  • Venous thrombosis
  • Thromboembolism
  • Overweight
  • Acrocyanosis

And another 7 symptoms. If you need more information about this disease we can help you.

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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 Activated Protein C Resistance; Thph2 Is also known as proc cofactor deficiency, apc resistance, thrombophilia due to deficiency of activated protein c cofactor, activated protein c resistance, thrombophilia v, pccf deficiency.

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.


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Thrombophilia Due To Activated Protein C Resistance; Thph2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
F5.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

F5
Specificity
100 %
Genes
34 %
Factor V Leiden Mutation Panel.

By Baylor Miraca Genetics Laboratories (United States).

F5
Specificity
100 %
Genes
34 %
Thrombophilia Mutation Panel.

By Baylor Miraca Genetics Laboratories (United States).

F2, F5, MTHFR
Specificity
34 %
Genes
34 %
Factor V Leiden.

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

F5
Specificity
100 %
Genes
34 %
Factor V Leiden.

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

F5
Specificity
100 %
Genes
34 %
Factor V Leiden Thrombophilia.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States).

F5
Specificity
100 %
Genes
34 %
Factor V Analysis.

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

F5
Specificity
100 %
Genes
34 %
Factore V Leiden.

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

F5
Specificity
100 %
Genes
34 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

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