congenital factor XII deficiency
Findings
No curated finding names congenital factor XII deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009315), read 2026-09-29. CC BY 4.0.
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Prolonged partial thromboplastin timeHPOHP:0003645
- Very frequent (80% to 99% of cases)
- Reduced factor XII activityHPOHP:0004841
- Very frequent (80% to 99% of cases)
- Abnormal thrombosisHPOHP:0001977
- Occasional (5% to 29% of cases)
- Retinal arteriolar occlusionHPOHP:0007985
- Occasional (5% to 29% of cases)
- Retinal venous occlusionHPOHP:0012636
- Occasional (5% to 29% of cases)
- ThromboembolismHPOHP:0001907
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- F12HGNC:3530
- Definitive · ClinGen · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: congenital factor XII deficiency
- Also called
- congenital Hageman factor deficiencyFactor XII DeficiencyHageman Factor deficiency