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heparin cofactor 2 deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

heparin cofactor 2 deficiency

MONDO:0012876

Also known as:thrombophilia 10 due to heparin cofactor II deficiencyHcf 2 deficiencyHcf2 deficiency

Overview

GeneticsAutosomal dominant · SERPIND1 (chr 22)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Recurrent deep vein thrombosis, Disseminated intravascular coagulation, and Post-angioplasty coronary artery restenosis.

Organ System	Phenotype Count	Example Features
Blood and immune system	1	Disseminated intravascular coagulation

Genetic Landscape

SERPIND1 function has not been fully characterized.

Heparin cofactor 2 deficiency is caused by mutations in the SERPIND1 gene on chromosome 22.

Diagnosis

Genetic testing for SERPIND1 is available. Testing is considered confirmatory for diagnosis.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for heparin cofactor 2 deficiency.

13 publications have been identified in PubMed for heparin cofactor 2 deficiency. Research spans Basic Science / Preclinical (77%), Case Report / Case Series (8%), and Clinical Trial Publication (8%).

Research Type	Count	% of Total
Laboratory research	10	77%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612356

Questions for Your Care Team

→Should I pursue genetic testing for SERPIND1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

heparin cofactor 2 deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

heparin cofactor 2 deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications