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factor 5 and Factor VIII, combined deficiency of, 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

factor 5 and Factor VIII, combined deficiency of, 2

MONDO:0013331

Also known as:MCFD2 combined deficiency of factor V and factor VIIIcombined deficiency of factor V and factor VIII caused by mutation in MCFD2factor 5 and Factor VIII, combined deficiency of, type 2

Overview

Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the MCFD2 gene.

GeneticsAutosomal recessive · MCFD2 (chr 2)

ResearchLimited published research (7 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: Reduced factor VIII activity, Menorrhagia, Reduced coagulation factor V activity, and Persistent bleeding after trauma and 1 more.

Organ System	Phenotype Count	Example Features
Blood and immune system	2	Reduced coagulation factor V activity, Persistent bleeding after trauma

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MCFD2 encodes multiple coagulation factor deficiency 2, ER cargo receptor complex subunit (146 aa). The MCFD2-LMAN1 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins. Plays a role in the secretion of coagulation factors Highest expression in Cells Cultured fibroblasts (173.9 TPM) and Adrenal Gland (149.6 TPM).

Factor 5 and Factor VIII, combined deficiency of, 2 is caused by mutations in the MCFD2 gene on chromosome 2.

The MCFD2 protein participates in hexameric LMAN1:MCFD2, LMAN1:MCFD2:glycosylated FV, FVIII precursor, and Hexameric LMAN1:MCFD2 bind glycosylated Factor V and VIII precursors pathways.

MCFD2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for MCFD2 is available. Testing is considered confirmatory for diagnosis.

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 5 and Factor VIII, combined deficiency of, 2.

7 publications have been identified in PubMed for factor 5 and Factor VIII, combined deficiency of, 2. Research spans Review / Meta-Analysis (43%), Case Report / Case Series (29%), and Basic Science / Preclinical (29%).

Recent Publications

Bendarkawi Y (2025). [PMID: 40296097](https://pubmed.ncbi.nlm.nih.gov/40296097/). *J Med Case Rep*. [Case Report / Case Series]
Tourbih H (2025). [PMID: 40747195](https://pubmed.ncbi.nlm.nih.gov/40747195/). *Cureus*. [Review / Meta-Analysis]
Yakovleva E (2025). [PMID: 39209292](https://pubmed.ncbi.nlm.nih.gov/39209292/). *Semin Thromb Hemost*. [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]
Solgun HA (2025). [PMID: 39757163](https://pubmed.ncbi.nlm.nih.gov/39757163/). *Ital J Pediatr*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613625

GARD

Genetic and Rare Diseases Info Center

GARD:18632

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
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→Is there a patient registry I should consider joining?

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factor 5 and Factor VIII, combined deficiency of, 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team