Heparin Cofactor Ii Deficiency

Description

Heparin cofactor II (HCF2 ) rapidly inhibits thrombin in plasma in the presence of dermatan sulfate or heparin. Congenital HCF2 deficiency is associated with thromboembolism and is classified into type I (quantitative) or type II (qualitative) deficiency (Kondo et al., 1996).

Clinical Features

Phenotypes and symptoms related to Heparin Cofactor Ii Deficiency

  • Venous thrombosis
  • Thromboembolism
  • Pulmonary embolism
  • Deep venous thrombosis
  • Disseminated intravascular coagulation
  • Recurrent deep vein thrombosis
  • Post-angioplasty coronary artery restenosis

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

Heparin Cofactor Ii Deficiency Is also known as thrombophilia due to heparin cofactor ii deficiency, thph10, hcf ii deficiency, hcf2 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.

Heparin Cofactor Ii Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
aCGH Deletion/Duplication Analysis.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti (United States).

CFB, RUNX1, STXBP2, TBXA2R, THBD, VWF, WAS, C3, C4BPA, C4BPB, ADAMTS13, GP6, HPS3, HPS4, ACTN1, HAX1, CFHR4, CFHR3, HPS5, ACVRL1 , (...)

View the complete list with 43 more genes
Specificity
2 %
Genes
50 %
SERPIND1.

By Fulgent Genetics Fulgent Genetics (United States).

SERPIND1
Specificity
100 %
Genes
50 %
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis.

By Centogene AG - the Rare Disease Company (Germany).

PI4KA
Specificity
100 %
Genes
50 %
PI4KA.

By Fulgent Genetics Fulgent Genetics (United States).

PI4KA
Specificity
100 %
Genes
50 %

You can get up to -4 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

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