vitamin K-dependent clotting factors, combined deficiency of, type 1
Findings
No curated finding names vitamin K-dependent clotting factors, combined deficiency of, type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.
Definition from the Mondo Disease Ontology (MONDO:0010187), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
10 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.
- Prolonged prothrombin timeHPOHP:0008151
- 4 of 4 reported patients
- Reduced factor IX activityHPOHP:0011858
- 4 of 4 reported patients
- Reduced factor VII activityHPOHP:0008169
- 4 of 4 reported patients
- Reduced factor X activityHPOHP:0008321
- 4 of 4 reported patients
- Reduced protein S activityHPOHP:0004855
- 4 of 4 reported patients
- Cerebral hemorrhageHPO
Genes
2 genes
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.
- GGCXHGNC:4247
- Definitive · ClinGen · Autosomal recessive · 2021
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- VKORC1HGNC:23663
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: vitamin K-dependent clotting factors, combined deficiency of, type 1
- Also called
- congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in GGCXGGCX congenital vitamin K-dependent coagulation factors combined deficiencyhereditary combined deficiency of factors II, VII, IX and X