congenital high-molecular-weight kininogen deficiency
MONDO:0009234Mondo
Findings
No curated finding names congenital high-molecular-weight kininogen deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis.
Definition from the Mondo Disease Ontology (MONDO:0009234), read 2026-09-29. CC BY 4.0.
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.
- KNG1HGNC:6383
- Definitive · ClinGen · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: congenital high-molecular-weight kininogen deficiency
- Also called
- high molecular weight kininogen deficiencykininogen deficiency