Myopathy of extraocular muscle

Summary

Myopathy of extraocular muscle (MONDO:0004746) is a disease. A subtype of eye adnexa disorder — 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	myopathy of extraocular muscle
Mondo ID	MONDO:0004746
DOID	DOID:929
ICD-10-CM	H05.82
SNOMED CT	57130002
UMLS	C0155286
MedGen	509895
GARD	0024100
Anatomy (UBERON)	UBERON:0001601
Is cancer (heuristic)	no

Also known as: extra-ocular muscle myopathy · myopathy of extra-ocular muscle · myopathy of extraocular muscles

Disease family

This is a subtype of eye adnexa 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 › disorder of orbital region › eye adnexa disorder › myopathy of extraocular muscle

Related subtypes (5): lacrimal apparatus disorder, eyelid disorder, disease of orbital part of eye adnexa, conjunctival disorder, ocular adnexal lymphoma

Subtypes (3): congenital fibrosis of extraocular muscles, oculopharyngeal muscular dystrophy, orbital myositis

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.