Inherited vitreoretinopathy

Summary

Inherited vitreoretinopathy (MONDO:0020246) is a disease (an umbrella term covering 5 Mondo subtypes). A subtype of retinal disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 5 Mondo subtypes

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	inherited vitreoretinopathy
Mondo ID	MONDO:0020246
Orphanet	98668
GARD	0019539
Is cancer (heuristic)	no

Data availability: 1 HPO phenotype.

Disease family

This is a subtype of retinal disorder. 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 › nervous system disorder › retinal disorder › inherited vitreoretinopathy

Related subtypes (31): retinal ischemia, rubeosis iridis, retinal vascular disorder, retinitis, retinal nerve fiber layer disorder, retinal edema, retinal degeneration, night blindness, hypertensive retinopathy, macular holes, retinal detachment, iris hypoplasia with glaucoma, angioid streaks, bradyopsia, myopic macular degeneration, osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome, congenital retinal arteriovenous communication, Eales disease, central serous chorioretinopathy, achromatopsia, cancer-associated retinopathy, persistent placoid maculopathy, retina neoplasm, retinal ciliopathy, melanoma associated retinopathy, isolated foveal hypoplasia, acute macular neuroretinopathy, autoimmune retinopathy, proliferative vitreoretinopathy, isolated chorioretinal dystrophy, torpedo maculopathy

Subtypes (5): vitreous detachment, congenital vitreoretinal dysplasia, vitreoretinal degeneration, TSPAN12-related vitreoretinopathy, NDP-related vitreoretinopathy

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.