ORPHA:97239
Reducing body myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked dominant, X-linked recessive
- Age of onset
- Adult, Childhood, Infancy
- Status
- active
A rare myopathy characterized by progressive muscle weakness and the presence of characteristic reducing bodies in muscle fibres. Reducing bodies are defined histopathologically by a strong menadione nitro blue tetrazolium reaction in the absence of the substrate, alpha-glycerophosphate.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Reducing body myopathy | |
| fr | Myopathie à corps réducteurs | |
| de | Reducing-Body-Myopathie | Myopathie mit reduzierenden Einschlusskörpern |
| es | Miopatía con inclusiones reductoras | |
| it | Miopatia con corpi ridotti | |
| nl | Reducing body-myopathie | |
| pt | Miopatia com corpos redutores | |
| pl | Miopatia z ciałkami redukującymi | |
| cs | Reducing body myopatie | |
| uk | Міопатія з тільцями що редукуються | |
| zh | 还原体肌病 | |
| tr | Vücut miyopatisinin azaltılması |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300717 | BTNT | validated | |
| OMIM | 300718 | BTNT | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C72.Y | NTBT | index | validated |
| MONDO | 0019948 | E | validated | |
| UMLS | C0270970 | E | validated | |
| GARD | 12162 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:97245Congenital myopathy
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FHL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3702 | ENSG00000022267 | 300163 | Xq26.3 | four and a half LIM domains 1 | 18274675[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 45 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/97239
- This record as JSON: /data/d/97239.json