inherited prekallikrein deficiency
Findings
No curated finding names inherited prekallikrein deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome.
Definition from the Mondo Disease Ontology (MONDO:0012901), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Late onset
HPO, annotations 2026-09-02
Features
3 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.
- Decreased circulating prekallikrein concentrationHPOHP:0034371
- 1 of 1 reported patient
- Prolonged partial thromboplastin timeHPOHP:0003645
- 1 of 1 reported patient
- Abnormal bleedingHPOHP:0001892
- 0 of 1 reported patient
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.
- KLKB1HGNC:6371
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: inherited prekallikrein deficiency
- Also called
- congenital prekallikrein deficiencyfletcher factor (prekallikrein) deficiencyhereditary prekallikrein deficiency