ORPHA:595
Centronuclear myopathy
Synonyms: CNM
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Status
- active
A rare group of inherited neuromuscular disorders characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy. The clinical picture and other histologic features varies according to gene involved and mode of inheritance.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Centronuclear myopathy | CNM |
| fr | Myopathie centronucléaire | CNM · MCN |
| de | Myopathie, zentronukleäre | CNM · Myopathie, myotubuläre |
| es | Miopatía centronuclear | = en |
| it | Miopatia centronucleare | = en |
| nl | Centronucleaire myopathie | = en |
| pt | Miopatia centronuclear | = en |
| pl | Miopatia centronuklearna | = en |
| cs | Centronukleární myopatie | = en |
| uk | Центронуклеарна міопатія | = en |
| zh | 中央核性肌病 | = en |
| tr | Santronükleer miyopati | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 8C72.01 | E | specific | validated |
| MONDO | 0018947 | E | validated | |
| MONDO | 18947 | E | validated | |
| UMLS | C0175709 | E | validated | |
| GARD | 101 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:97245Congenital myopathy
rare genetic diseases; rare neurological diseases
Children (6):
- ORPHA:169189Autosomal dominant centronuclear myopathy
- ORPHA:169186Autosomal recessive centronuclear myopathy
- ORPHA:319160Congenital myopathy with internal nuclei and atypical cores
- ORPHA:604680Symptomatic form of X-linked centronuclear myopathy in female carriers
- ORPHA:596X-linked centronuclear myopathy
- ORPHA:456328X-linked myotubular myopathy-abnormal genitalia syndrome
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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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/595
- This record as JSON: /data/d/595.json