factor V and factor VIII, combined deficiency of, type 1
MONDO:0009206Mondo
Findings
No curated finding names factor V and factor VIII, combined deficiency of, type 1 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 LMAN1 gene.
Definition from the Mondo Disease Ontology (MONDO:0009206), read 2026-09-29. CC BY 4.0.
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.
- LMAN1HGNC:6631
- Definitive · ClinGen · Autosomal recessive · 2019
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: factor V and factor VIII, combined deficiency of, type 1
- Also called
- combined deficiency of factor V and factor VIII caused by mutation in LMAN1combined factor V and VIII deficiencyfactor 5 and Factor VIII, combined deficiency of, 1LMAN1 combined deficiency of factor V and factor VIII