Focal myositis
diseaseOn this page
Also known as focal nodular myositisinflammatory pseudotumor of skeletal muscle
Summary
Focal myositis (MONDO:0018845) is a disease. A subtype of acquired idiopathic inflammatory myopathy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 7
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 115 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
7 HPO clinical features (Orphanet curated; top 7 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0100614 | Myositis | Very frequent (80-99%) |
| HP:0003236 | Elevated circulating creatine kinase concentration | Frequent (30-79%) |
| HP:0001324 | Muscle weakness | Occasional (5-29%) |
| HP:0001376 | Limitation of joint mobility | Occasional (5-29%) |
| HP:0001824 | Weight loss | Occasional (5-29%) |
| HP:0001945 | Fever | Occasional (5-29%) |
| HP:0003326 | Myalgia | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | focal myositis |
| Mondo ID | MONDO:0018845 |
| Orphanet | 48918 |
| ICD-11 | 708931518 |
| SNOMED CT | 240119009 |
| UMLS | C0409988 |
| MedGen | 592748 |
| GARD | 0018837 |
| Is cancer (heuristic) | no |
Also known as: focal nodular myositis · inflammatory pseudotumor of skeletal muscle
Disease family
This is a subtype of acquired idiopathic inflammatory 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 › acquired skeletal muscle disease › acquired idiopathic inflammatory myopathy › focal myositis
Related subtypes (8): eosinophilic fasciitis, immune-mediated necrotizing myopathy, overlap myositis, inflammatory myopathy with abundant macrophages, idiopathic eosinophilic myositis, juvenile idiopathic inflammatory myopathy, polymyositis, antisynthetase syndrome
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.