congenital factor XI deficiency

Findings

No curated finding names congenital factor XI deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

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.

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.

Where it sits

A kind of

• autosomal genetic disease
• congenital hematological disorder
• factor XI deficiency
• hemorrhagic disease
• inherited blood coagulation disorder

Resolves to: congenital factor XI deficiency

Also called

factor XI deficiency, autosomal dominantfactor XI deficiency, autosomal recessivehaemophilia Chemophilia Chereditary Factor XI deficiencyhereditary factor XI deficiency diseaseplasma thromboplastin antecedent deficiencyPTA deficiencyRosenthal factor deficiencyRosenthal syndromeRosenthal's disease