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

Summary

factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor (MONDO:0009207) is a disease. A subtype of combined deficiency of factor V and factor VIII — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor
Mondo ID	MONDO:0009207
OMIM	227310
UMLS	C1856882
MedGen	346462
GARD	0018631
Is cancer (heuristic)	no

Also known as: factor V and Factor VIII, combined deficiency of, with normal protein c and Protein C inhibitor

Disease family

This is a subtype of combined deficiency of factor V and factor VIII. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › hematologic disorder › blood coagulation disease › coagulation protein disease › combined deficiency of factor V and factor VIII › factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor

Related subtypes (2): factor V and factor VIII, combined deficiency of, type 1, factor 5 and Factor VIII, combined deficiency of, 2

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.