Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant

Summary

Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant (MONDO:0008131) is a disease. A subtype of autosomal dominant optic atrophy plus syndrome — 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	optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant
Mondo ID	MONDO:0008131
MeSH	C563497
OMIM	165199
UMLS	C1833831
MedGen	331597
GARD	0000402
Is cancer (heuristic)	no

Also known as: optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant

Disease family

This is a subtype of autosomal dominant optic atrophy plus syndrome. 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 etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › autosomal genetic disease › autosomal dominant disease › autosomal dominant optic atrophy › autosomal dominant optic atrophy plus syndrome › optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant

Related subtypes (3): optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy, cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, optic atrophy 8

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.