vitamin K-dependent clotting factors, combined deficiency of, type 2
Findings
No curated finding names vitamin K-dependent clotting factors, combined deficiency of, type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any congenital vitamin K-dependent coagulation factors combined deficiency in which the cause of the disease is a mutation in the VKORC1 gene.
Definition from the Mondo Disease Ontology (MONDO:0011837), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
1 feature
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.
- Reduced prothrombin antigenHPOHP:0040250
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.
- VKORC1HGNC:23663
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
Other names
3 names
Resolves to: vitamin K-dependent clotting factors, combined deficiency of, type 2
- Also called
- congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in VKORC1vitamin K-dependent clotting factors, combined deficiency of, 2VKORC1 congenital vitamin K-dependent coagulation factors combined deficiency