Factor XIII deficiency: genes and variants
Factor XIII deficiency is linked to 2 analyzed proteins (F13A1 and F13B). 1 DNA variants are known to cause it; 0 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: congenital factor XIII deficiency
Genes linked to Factor XIII deficiency
F13A1: Coagulation factor XIII A chain
After thrombin activation, it crosslinks fibrin strands and other proteins to stabilize the newly formed blood clot. Biallelic deficiency causes severe bleeding with poor wound healing and a characteristic risk of delayed bleeding and intracranial hemorrhage.
1 disease-causing and 0 uncertain variants in F13A1 are linked to Factor XIII deficiency.
F13B: Coagulation factor XIII B chain
It circulates bound to the catalytic factor XIII A subunits and stabilizes them in plasma before clotting activation. Biallelic deficiency lowers circulating factor XIII and can cause a bleeding tendency, generally milder than complete F13A1 deficiency.
0 disease-causing and 0 uncertain variants in F13B are linked to Factor XIII deficiency.
Known disease-causing variants in Factor XIII deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| F13A1 R682H | 682 | Disease-causing (★★★★) |
Same protein, different disease
- Factor XIII, A subunit, deficiency of is also caused by F13A1 variants; they fall mostly in different places as the Factor XIII deficiency variants (13 disease-causing).
Diseases related to Factor XIII deficiency
- Factor XIII, A subunit, deficiency of, also linked to F13A1
- Thrombophilia due to thrombin defect, also linked to F13A1
- Factor XIII, b subunit, deficiency of, also linked to F13B
Frequently asked questions
Which genes are linked to Factor XIII deficiency?
In CATVariant, Factor XIII deficiency is linked to 2 analyzed proteins: F13A1 (Coagulation factor XIII A chain) and F13B (Coagulation factor XIII B chain).
How many genetic variants are linked to Factor XIII deficiency?
42 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in Factor XIII deficiency look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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