Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

congenital high-molecular-weight kininogen deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital high-molecular-weight kininogen deficiency

MONDO:0009234

Also known as:high molecular weight kininogen deficiencykininogen deficiencyFitzgerald trait

Overview

A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis.

GeneticsAutosomal recessive · KNG1 (chr 3)

ResearchLimited published research (6 articles)

Clinical Presentation

Features include: Reduced kininogen activity and Prolonged partial thromboplastin time.

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.

KNG1 encodes kininogen 1 (644 aa). Kininogens are inhibitors of thiol proteases. Highest expression in Liver (414.4 TPM) and Kidney Medulla (180.7 TPM).

Congenital high-molecular-weight kininogen deficiency is caused by mutations in the KNG1 gene on chromosome 3.

The KNG1 protein participates in KLKB1:KNG1:(C1QBP, C1QBP:KRT1, PLAUR:KRT1) and KLKB1:KNG1:(C1QBP,C1QBP:KRT1, PLAUR:KRT1):FXII pathways.

KNG1 is classified as a druggable target (Druggable Genome, Hormone Activity, and Protease Inhibitor categories) with score 13.1.

Diagnosis

Genetic testing for KNG1 is available. Testing is considered confirmatory for diagnosis.

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 congenital high-molecular-weight kininogen deficiency.

6 publications have been identified in PubMed for congenital high-molecular-weight kininogen deficiency. Research spans Case Report / Case Series (50%), Other (17%), and Review / Meta-Analysis (17%).

Recent Publications

Ohnaka Y (2026). [PMID: 41406198](https://pubmed.ncbi.nlm.nih.gov/41406198/). *Hypertension*. [Other]
Huang J (2026). [PMID: 41816881](https://pubmed.ncbi.nlm.nih.gov/41816881/). *Blood Coagul Fibrinolysis*. [Case Report / Case Series]
Aman Ur Rahman W (2025). [PMID: 40711100](https://pubmed.ncbi.nlm.nih.gov/40711100/). *Sports (Basel)*. [Review / Meta-Analysis]
Lv X (2025). [PMID: 39800040](https://pubmed.ncbi.nlm.nih.gov/39800040/). *Clin Biochem*. [Case Report / Case Series]
Jiang T (2025). [PMID: 41574369](https://pubmed.ncbi.nlm.nih.gov/41574369/). *Front Med (Lausanne)*. [Case Report / Case Series]

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 1:02 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:228960

Orphanet

European rare disease database

Orphanet:483

GARD

Genetic and Rare Diseases Info Center

GARD:2684

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?

← Back to All Diseases

congenital high-molecular-weight kininogen deficiency

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team