Classic multiminicore myopathy
diseaseOn this page
Also known as classic MmDclassic multiminicore diseaseminicore myopathy
Summary
Classic multiminicore myopathy (MONDO:0017939) is a disease. A subtype of multiminicore myopathy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Phenotypes (HPO): 29
Clinical features
Signs & symptoms
Clinical features (HPO)
29 HPO clinical features (Orphanet curated; top 29 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0003560 | Muscular dystrophy | Very frequent (80-99%) |
| HP:0000218 | High palate | Frequent (30-79%) |
| HP:0001290 | Generalized hypotonia | Frequent (30-79%) |
| HP:0001508 | Failure to thrive | Frequent (30-79%) |
| HP:0001620 | Abnormally high-pitched voice | Frequent (30-79%) |
| HP:0002091 | Restrictive ventilatory defect | Frequent (30-79%) |
| HP:0002194 | Delayed gross motor development | Frequent (30-79%) |
| HP:0002421 | Poor head control | Frequent (30-79%) |
| HP:0002650 | Scoliosis | Frequent (30-79%) |
| HP:0002828 | Multiple joint contractures | Frequent (30-79%) |
| HP:0002877 | Nocturnal hypoventilation | Frequent (30-79%) |
| HP:0003306 | Spinal rigidity | Frequent (30-79%) |
| HP:0003327 | Axial muscle weakness | Frequent (30-79%) |
| HP:0003700 | Generalized amyotrophy | Frequent (30-79%) |
| HP:0004322 | Short stature | Frequent (30-79%) |
| HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness | Frequent (30-79%) |
| HP:0005991 | Limited neck flexion | Frequent (30-79%) |
| HP:0009058 | Increased muscle lipid content | Frequent (30-79%) |
| HP:0030319 | Weakness of facial musculature | Frequent (30-79%) |
| HP:0100295 | Muscle fiber atrophy | Frequent (30-79%) |
| HP:0000303 | Mandibular prognathia | Occasional (5-29%) |
| HP:0000308 | Microretrognathia | Occasional (5-29%) |
| HP:0001385 | Hip dysplasia | Occasional (5-29%) |
| HP:0001634 | Mitral valve prolapse | Occasional (5-29%) |
| HP:0001635 | Congestive heart failure | Occasional (5-29%) |
| HP:0001667 | Right ventricular hypertrophy | Occasional (5-29%) |
| HP:0001708 | Right ventricular failure | Occasional (5-29%) |
| HP:0001763 | Pes planus | Occasional (5-29%) |
| HP:0030091 | Absent muscle fiber merosin | Excluded (0%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | classic multiminicore myopathy |
| Mondo ID | MONDO:0017939 |
| Orphanet | 324604 |
| UMLS | C5679883 |
| MedGen | 1826166 |
| GARD | 0013661 |
| Is cancer (heuristic) | no |
Also known as: classic MmD · classic multiminicore disease · classic multiminicore myopathy · minicore myopathy
Data availability: 1 HPO phenotype.
Disease family
This is a subtype of multiminicore 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 › nervous system disorder › qualitative or quantitative protein defects in neuromuscular diseases › neuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1 › multiminicore myopathy › classic multiminicore myopathy
Related subtypes (4): congenital multicore myopathy with external ophthalmoplegia, rigid spine muscular dystrophy 1, moderate multiminicore disease with hand involvement, antenatal multiminicore disease with arthrogryposis multiplex congenita
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.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.