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inherited prekallikrein deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

inherited prekallikrein deficiency

MONDO:0012901

Also known as:congenital prekallikrein deficiencyfletcher factor (prekallikrein) deficiencyhereditary prekallikrein deficiency

Overview

An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome.

GeneticsAutosomal recessive · KLKB1 (chr 4)

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Reduced circulating prekallikrein concentration and Prolonged partial thromboplastin time. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	1	Abnormal bleeding tendency (abnormal bleeding)

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

KLKB1 encodes kallikrein B1 (638 aa). Participates in the surface-dependent activation of blood coagulation. Activates, in a reciprocal reaction, coagulation factor XII/F12 after binding to negatively charged surfaces. Highest expression in Liver (76.5 TPM) and Kidney Medulla (9.3 TPM).

Inherited prekallikrein deficiency is caused by mutations in the KLKB1 gene on chromosome 4.

The KLKB1 protein participates in prekallikrein + kininogen - prekallikrein:kininogen, prekallikrein:kininogen:cell surface receptor:factor XII - factor XIIa + prekallikrein:kininogen:cell surface receptor (FXII autocatalysis on the cell surface), and FXI + kininogen - FXI:kininogen pathways.

KLKB1 is classified as a druggable target (Druggable Genome, Enzyme, and Protease categories) with score 11.2.

Diagnosis

Genetic testing for KLKB1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for inherited prekallikrein deficiency.

4 publications have been identified in PubMed for inherited prekallikrein deficiency. Kisho has analyzed 3 by research type. Research spans Case Report / Case Series (67%) and Review / Meta-Analysis (33%).

Recent Publications

Iwai T (2026). [PMID: 41123211](https://pubmed.ncbi.nlm.nih.gov/41123211/). *Anaesth Intensive Care*. [Case Report / Case Series]
Rocca B (2025). [PMID: 40309219](https://pubmed.ncbi.nlm.nih.gov/40309219/). *Eur Cardiol*. [Case Report / Case Series]
Fasshauer M (2024). [PMID: 39502954](https://pubmed.ncbi.nlm.nih.gov/39502954/). *Allergol Select*. [Review / Meta-Analysis]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 11:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612423

Orphanet

European rare disease database

Orphanet:749

GARD

Genetic and Rare Diseases Info Center

GARD:4477

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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inherited prekallikrein deficiency

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team