Asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome

Summary

Asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome (MONDO:0975918) is a disease. A subtype of distal myopathy — 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	asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome
Mondo ID	MONDO:0975918
Orphanet	689021
UMLS	C6012375
MedGen	1876659
GARD	0027423
Is cancer (heuristic)	no

Disease family

This is a subtype of distal myopathy. 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 › musculoskeletal system disorder › muscle tissue disorder › skeletal muscle disorder › myopathy › muscular dystrophy › distal myopathy › asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome

Related subtypes (10): myopathy, distal, infantile-onset, MYH7-related skeletal myopathy, Miyoshi myopathy, distal myopathy with anterior tibial onset, myopathy, distal, 5, myopathy, distal, with rimmed vacuoles, autosomal dominant distal myopathy, nebulin-related early-onset distal myopathy, myopathy, distal, 7, adult-onset, X-linked, oculopharyngodistal myopathy

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.