Heparin Cofactor Ii Deficiency

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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).

Genes related to Heparin Cofactor Ii Deficiency

SERPIND1
PI4KA

View recommended genes panels

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 Panel complete gene list CFB, RUNX1, STXBP2, TBXA2R, THBD, VWF, WAS, C3, C4BPA, C4BPB, ADAMTS13, GP6, HPS3, HPS4, ACTN1, HAX1, CFHR4, CFHR3, HPS5, ACVRL1, HPS6, MASTL, CYCS, BLOC1S3, VKORC1, CFHR5, G6PC3, DGKE, ELANE, ENG, F10, F11, F13A1, F2, F5, F7, F8, F9, FGA, FGB, FGG, GATA1, GGCX, GP1BA, GP1BB, GP9, SERPIND1, CFH, CFHR1, HOXA11, HPS1, HRG, CFI, LMAN1, LMNA, CD46, MPL, MYH9, SERPINC1, BLOC1S6, PLAU, PROC, RBM8A 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

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TREACHER COLLINS SYNDROME 2; TCS2 HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA; HH5 DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY MAJEED SYNDROME CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F; CMT4F BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 1; BNAH1 WIEACKER-WOLFF SYNDROME; WRWF