F11 encodes coagulation factor XI (625 aa). Factor XI triggers the middle phase of the intrinsic pathway of blood coagulation by activating factor IX Highest expression in Liver (60.0 TPM) and Pancreas (12.0 TPM).

Congenital factor XI deficiency is caused by mutations in the F11 gene on chromosome 4.

The F11 protein participates in factor XI monomer pathway.

F11 is classified as a druggable target (Druggable Genome, Enzyme, and Protease categories) with score 5.0.

Genetic testing for F11 is available. Testing is considered confirmatory for diagnosis.

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

No approved treatments are currently available for congenital factor XI deficiency. An additional 2 compounds hold orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for congenital factor XI deficiency, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for congenital factor XI deficiency. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Gene therapy approaches for congenital factor XI deficiency have been reported in the published literature.

Phenotype severity distribution: 5 very common features, 2 common features.

Estimated prevalence: 1-9 in 1,000,000 (Rare).

No clinical trials have been registered for congenital factor XI deficiency.

127 publications have been identified in PubMed for congenital factor XI deficiency. Research spans Basic Science / Preclinical (48%), Case Report / Case Series (20%), and Review / Meta-Analysis (15%).

Recent Publications

• Minocha A (2026). [PMID: 41481502](https://pubmed.ncbi.nlm.nih.gov/41481502/). *Eur J Ophthalmol*. [Case Report / Case Series]

• Jamil RT (2026). [PMID: 29261927](https://pubmed.ncbi.nlm.nih.gov/29261927/). *Unknown Journal*. [Case Report / Case Series]

• Zhao XY (2026). [PMID: 41268665](https://pubmed.ncbi.nlm.nih.gov/41268665/). *Hypertension*. [Basic Science / Preclinical]

• Bolzon A (2026). [PMID: 41327959](https://pubmed.ncbi.nlm.nih.gov/41327959/). *Ital J Dermatol Venerol*. [Review / Meta-Analysis]

• Turpin DB (2026). [PMID: 41685102](https://pubmed.ncbi.nlm.nih.gov/41685102/). *JAAD Case Rep*. [Case Report / Case Series]

• Chen L (2026). [PMID: 41299088](https://pubmed.ncbi.nlm.nih.gov/41299088/). *Cell Death Differ*. [Basic Science / Preclinical]

• Bolzon A (2026). [PMID: 41410388](https://pubmed.ncbi.nlm.nih.gov/41410388/). *Ital J Dermatol Venerol*. [Review / Meta-Analysis]

• Zhang X (2026). [PMID: 41511661](https://pubmed.ncbi.nlm.nih.gov/41511661/). *Apoptosis*. [Basic Science / Preclinical]

• Liu T (2026). [PMID: 41564864](https://pubmed.ncbi.nlm.nih.gov/41564864/). *Cell Rep Med*. [Basic Science / Preclinical]

• Ma X (2026). [PMID: 41756284](https://pubmed.ncbi.nlm.nih.gov/41756284/). *Front Immunol*. [Basic Science / Preclinical]