Moderate multiminicore disease with hand involvement
diseaseOn this page
Summary
Moderate multiminicore disease with hand involvement (MONDO:0015793) 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): 14
Clinical features
Signs & symptoms
Clinical features (HPO)
14 HPO clinical features (Orphanet curated; top 14 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001319 | Neonatal hypotonia | Frequent (30-79%) |
| HP:0001382 | Joint hypermobility | Frequent (30-79%) |
| HP:0001762 | Talipes equinovarus | Frequent (30-79%) |
| HP:0002194 | Delayed gross motor development | Frequent (30-79%) |
| HP:0003324 | Generalized muscle weakness | Frequent (30-79%) |
| HP:0003327 | Axial muscle weakness | Frequent (30-79%) |
| HP:0008954 | Intrinsic hand muscle atrophy | Frequent (30-79%) |
| HP:0008959 | Distal upper limb muscle weakness | Frequent (30-79%) |
| HP:0009046 | Difficulty running | Frequent (30-79%) |
| HP:0010628 | Facial palsy | Frequent (30-79%) |
| HP:0012391 | Hyporeflexia of upper limbs | Frequent (30-79%) |
| HP:0003803 | Type 1 muscle fiber predominance | Occasional (5-29%) |
| HP:0004976 | Knee dislocation | Occasional (5-29%) |
| HP:0005001 | Recurrent patellar dislocation | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | moderate multiminicore disease with hand involvement |
| Mondo ID | MONDO:0015793 |
| Orphanet | 178145 |
| UMLS | C1861753 |
| MedGen | 396213 |
| GARD | 0017078 |
| Is cancer (heuristic) | no |
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 › moderate multiminicore disease with hand involvement
Related subtypes (4): congenital multicore myopathy with external ophthalmoplegia, rigid spine muscular dystrophy 1, antenatal multiminicore disease with arthrogryposis multiplex congenita, classic multiminicore 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.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.