Retinal cone dystrophy type 1

Summary

Retinal cone dystrophy type 1 (MONDO:0008374) is a disease. A subtype of cone dystrophy — 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	retinal cone dystrophy type 1
Mondo ID	MONDO:0008374
MeSH	C566719
OMIM	180020
DOID	DOID:0081024
UMLS	C1867326
MedGen	356747
GARD	0003196
Is cancer (heuristic)	no

Also known as: cone dystrophy autosomal dominant · RCD1 · retinal cone dystrophy 1 · retinal cone dystrophy-1

Disease family

This is a subtype of cone dystrophy. 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 › retinal degeneration › inherited retinal dystrophy › hereditary macular dystrophy › cone dystrophy › retinal cone dystrophy type 1

Related subtypes (5): cone dystrophy, X-linked, with tapetal-like sheen, cone dystrophy 3, cone dystrophy with supernormal rod response, retinal cone dystrophy 4, cone dystrophy 4

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.