Hereditary factor XI deficiency disease: genes and variants

Genes linked to Hereditary factor XI deficiency disease

• F11: Coagulation factor XI

  Its activated form amplifies thrombin generation through the intrinsic coagulation pathway. Deficiency causes hemophilia C with variable bleeding, while reduced factor XI activity is associated with lower thrombosis risk and is being explored as a safer anticoagulation target.

  48 disease-causing and 52 uncertain variants in F11 are linked to Hereditary factor XI deficiency disease.

Where Hereditary factor XI deficiency disease variants cluster

• F11 Apple 4 (positions 291–374): 12 of 48 disease-causing changes, 1.9× more than its size predicts.

Known disease-causing variants in Hereditary factor XI deficiency disease

Uncertain variants in Hereditary factor XI deficiency disease that look disease-causing

Which prediction tools work for Hereditary factor XI deficiency disease

How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).

• SIFT: 86 out of 100

Same protein, different disease

• Plasma factor XI deficiency is also caused by F11 variants; they fall partly in the same places as the Hereditary factor XI deficiency disease variants (34 disease-causing).

Diseases related to Hereditary factor XI deficiency disease

• Plasma factor XI deficiency, also linked to F11

Frequently asked questions

Which genes are linked to Hereditary factor XI deficiency disease?

In CATVariant, Hereditary factor XI deficiency disease is linked to 1 analyzed protein: F11 (Coagulation factor XI).

How many genetic variants are linked to Hereditary factor XI deficiency disease?

104 variants: 48 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 52 are of uncertain significance or have conflicting reports.

Which uncertain variants in Hereditary factor XI deficiency disease look disease-causing?

1 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example F11 G591A. These are leads for expert review, not diagnoses.

Which variant effect predictor works best for Hereditary factor XI deficiency disease?

Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 0.85, based on 43 disease-causing and 8 harmless variants).

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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