Encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts

Summary

Encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts (MONDO:0009164) is a disease. A subtype of Mendelian encephalopathy — 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	encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts
Mondo ID	MONDO:0009164
MeSH	C565596
OMIM	225740
UMLS	C1856990
MedGen	341669
Is cancer (heuristic)	no

Also known as: encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › Mendelian encephalopathy › encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts

Related subtypes (18): encephalopathy, recurrent, of childhood, Bonnemann-Meinecke-Reich syndrome, severe neonatal-onset encephalopathy with microcephaly, ethylmalonic encephalopathy, familial encephalopathy with neuroserpin inclusion bodies, spongiform encephalopathy with neuropsychiatric features, familial acute necrotizing encephalopathy, encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, severe neurodegenerative syndrome with lipodystrophy, encephalopathy due to defective mitochondrial and peroxisomal fission 2, encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, encephalopathy, progressive, with amyotrophy and optic atrophy, encephalitis/encephalopathy, mild, with reversible myelin vacuolization, encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, encephalopathy, porphyria-related

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.