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vitamin K-dependent clotting factors, combined deficiency of, type 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

vitamin K-dependent clotting factors, combined deficiency of, type 2

MONDO:0011837

Also known as:VKORC1 congenital vitamin K-dependent coagulation factors combined deficiencycongenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in VKORC1vitamin K-dependent clotting factors, combined deficiency of, 2

Overview

Any congenital vitamin K-dependent coagulation factors combined deficiency in which the cause of the disease is a mutation in the VKORC1 gene.

GeneticsAutosomal recessive · VKORC1 (chr 16)

ResearchLimited published research (8 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: Abnormal bleeding tendency (abnormal bleeding), Reduced factor IX activity, Reduced factor X activity, and Reduced factor VII activity and 1 more.

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

Explore clinical features

Genetic Landscape

VKORC1 function has not been fully characterized.

Vitamin K-dependent clotting factors, combined deficiency of, type 2 has been associated with mutations in the VKORC1 gene on chromosome 16.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for VKORC1 is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for vitamin K-dependent clotting factors, combined deficiency of, type 2 has been reported in the published literature.

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 vitamin K-dependent clotting factors, combined deficiency of, type 2.

8 publications have been identified in PubMed for vitamin K-dependent clotting factors, combined deficiency of, type 2. Research spans Review / Meta-Analysis (63%), Diagnostic / Biomarker (13%), and Case Report / Case Series (13%).

Recent Publications

Eden RE (2026). [PMID: 30725668](https://pubmed.ncbi.nlm.nih.gov/30725668/). *Unknown Journal*. [Review / Meta-Analysis]
Raharimanana A (2025). [PMID: 40541254](https://pubmed.ncbi.nlm.nih.gov/40541254/). *Hamostaseologie*. [Review / Meta-Analysis]
Terzi Ö (2025). [PMID: 39715304](https://pubmed.ncbi.nlm.nih.gov/39715304/). *J Pediatr Hematol Oncol*. [Epidemiology / Natural History]
Tourbih H (2025). [PMID: 40747195](https://pubmed.ncbi.nlm.nih.gov/40747195/). *Cureus*. [Review / Meta-Analysis]
Alhamadeh Alswij M (2025). [PMID: 41377787](https://pubmed.ncbi.nlm.nih.gov/41377787/). *Eur J Case Rep Intern Med*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 4:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:607473

GARD

Genetic and Rare Diseases Info Center

GARD:18196

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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vitamin K-dependent clotting factors, combined deficiency of, type 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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