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congenital factor XII deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital factor XII deficiency

MONDO:0009315

Also known as:Factor XII DeficiencyHageman Factor deficiencycongenital Hageman factor deficiency

Overview

Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.

GeneticsAutosomal recessive · F12 (chr 5)

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 very common findings: Reduced factor XII activity and Prolonged partial thromboplastin time; and sometimes findings: Thromboembolism, Abnormal thrombosis, Retinal arteriolar occlusion, and Retinal vein occlusion. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	2	Retinal arteriolar occlusion, Retinal vein occlusion

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

F12 encodes coagulation factor XII (615 aa). Factor XII is a serum glycoprotein that participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. Highest expression in Liver (376.0 TPM) and Esophagus Mucosa (10.0 TPM).

Congenital factor XII deficiency is caused by mutations in the F12 gene on chromosome 5.

The F12 protein participates in F12 T328R(20-328), F12 T328K(20-328), and F12 T328K (329-615) pathways.

F12 is classified as a druggable target (Druggable Genome, Enzyme, and Protease categories) with score 8.7.

Diagnosis

Genetic testing for F12 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for congenital factor XII deficiency has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 very common features.

Estimated prevalence: Unknown (Unknown prevalence).

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 congenital factor XII deficiency.

34 publications have been identified in PubMed for congenital factor XII deficiency. Research spans Case Report / Case Series (56%), Review / Meta-Analysis (15%), and Basic Science / Preclinical (9%).

Research Type	Count	% of Total
Patient case studies	19	56%

Data assembled from 7 of 12 sources · Last updated Oct 4, 2026, 3:02 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:234000

Orphanet

European rare disease database

Orphanet:330

GARD

Genetic and Rare Diseases Info Center

GARD:6558

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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

congenital factor XII deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Acquired Coagulation Factor XIII Deficiency With Spontaneous Splenic Rupture: A Case Report.

congenital factor XII deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Acquired Coagulation Factor XIII Deficiency With Spontaneous Splenic Rupture: A Case Report.