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factor V and factor VIII, combined deficiency of, type 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

factor V and factor VIII, combined deficiency of, type 1

MONDO:0009206

Also known as:LMAN1 combined deficiency of factor V and factor VIIIcombined deficiency of factor V and factor VIII caused by mutation in LMAN1combined factor V and VIII deficiency

Overview

Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene.

GeneticsAutosomal recessive · LMAN1 (chr 18)

ResearchLimited published research (6 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

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.

LMAN1 encodes lectin, mannose binding 1 (510 aa). Mannose-specific lectin. Highest expression in Cells Cultured fibroblasts (170.7 TPM) and Cells EBV-transformed lymphocytes (92.9 TPM).

Factor V and factor VIII, combined deficiency of, type 1 is caused by mutations in the LMAN1 gene on chromosome 18.

The LMAN1 protein participates in hexameric LMAN1:MCFD2 pathway.

LMAN1 is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

Genetic testing for LMAN1 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 V and factor VIII, combined deficiency of, type 1.

6 publications have been identified in PubMed for factor V and factor VIII, combined deficiency of, type 1. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (33%), and Basic Science / Preclinical (17%).

Recent Publications

Bendarkawi Y (2025). [PMID: 40296097](https://pubmed.ncbi.nlm.nih.gov/40296097/). *Journal of medical case reports*. [Case Report / Case Series]
Luzarraga JL (2025). [PMID: 41040772](https://pubmed.ncbi.nlm.nih.gov/41040772/). *Cureus*. [Case Report / Case Series]
Tourbih H (2025). [PMID: 40747195](https://pubmed.ncbi.nlm.nih.gov/40747195/). *Cureus*. [Review / Meta-Analysis]
Gangadaran N (2024). [PMID: 38912355](https://pubmed.ncbi.nlm.nih.gov/38912355/). *International journal of applied & basic medical research*. [Case Report / Case Series]
Everett LA (2024). [PMID: 39499573](https://pubmed.ncbi.nlm.nih.gov/39499573/). *JCI Insight*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 5:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:227300

GARD

Genetic and Rare Diseases Info Center

GARD:18630

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, type 1

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