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factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor

MONDO:0009207

Also known as:factor 5 and Factor VIII, combined deficiency Of, with normal Protein C and Protein C inhibitor

Overview

GeneticsAutosomal recessive

ResearchLimited published research (4 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 VIII activity, and Reduced coagulation factor V activity.

Organ System	Phenotype Count	Example Features
Blood and immune system	2	Abnormal bleeding tendency (abnormal bleeding), Reduced coagulation factor V activity

Explore clinical features

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 factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor.

4 publications have been identified in PubMed for factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Tourbih H (2025). [PMID: 40747195](https://pubmed.ncbi.nlm.nih.gov/40747195/). *Cureus*. [Review / Meta-Analysis]
Artemyev V (2025). [PMID: 41511298](https://pubmed.ncbi.nlm.nih.gov/41511298/). *Cells*. [Review / Meta-Analysis]
SuHao Y (2024). [PMID: 39425180](https://pubmed.ncbi.nlm.nih.gov/39425180/). *Journal of medical case reports*. [Case Report / Case Series]
Zhang Y (2024). [PMID: 39560563](https://pubmed.ncbi.nlm.nih.gov/39560563/). *Medicine*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 2:53 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:227310

GARD

Genetic and Rare Diseases Info Center

GARD:18631

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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factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor

Overview

Clinical Presentation

Explore clinical features

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team