factor 5 and Factor VIII, combined deficiency of, 2
Findings
No curated finding names factor 5 and Factor VIII, combined deficiency of, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the MCFD2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013331), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
2 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.
- Reduced coagulation factor V activityHPOHP:0003225
- Reduced factor VIII activityHPOHP:0003125
Genes
1 gene
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.
- MCFD2HGNC:18451
- Definitive · Ambry Genetics · Autosomal recessive · 2024
- Definitive · ClinGen · Autosomal recessive · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: factor 5 and Factor VIII, combined deficiency of, 2
- Also called
- combined deficiency of factor V and factor VIII caused by mutation in MCFD2factor 5 and Factor VIII, combined deficiency of, type 2factor V and factor VIII, combined deficiency ofMCFD2 combined deficiency of factor V and factor VIII