ORPHA:206966
Mitochondrial myopathy
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mitochondrial myopathy | |
| fr | Myopathie mitochondriale | |
| de | Mitochondriale Myopathie | |
| es | Miopatía mitocondrial | |
| it | Miopatia mitocondriale | |
| nl | Mitochondriale myopathie | |
| pt | Miopatia mitocondrial | |
| pl | Miopatia mitochondrialna | |
| cs | Mitochondriální myopatie | |
| uk | Мітохондріальна міопатія | |
| zh | 线粒体肌病 | |
| tr | Mitokondriyal miyopati |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G71.3 | E | specific | validated |
| ICD-11 | 8C73 | E | specific | validated |
| MONDO | 9637 | E | validated | |
| MeSH | D017240 | E | validated | |
| UMLS | C0162670 | E | validated | |
| MedDRA | 10027710 | 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:98486Metabolic myopathy
rare genetic diseases; rare neurological diseases
Children (21):
- ORPHA:45Adenosine monophosphate deaminase deficiency
- ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
- ORPHA:329314Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
- ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intolerance
- ORPHA:111Barth syndrome
- ORPHA:330054Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
- ORPHA:352470DNA2-related mitochondrial DNA deletion syndrome
- ORPHA:2609Isolated complex I deficiency
- ORPHA:3208Isolated succinate-CoQ reductase deficiency
- ORPHA:480Kearns-Sayre syndrome
- ORPHA:550MELAS
- ORPHA:551MERRF
- ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
- ORPHA:2598Mitochondrial myopathy and sideroblastic anemia
- ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
- ORPHA:2597Mitochondrial myopathy-lactic acidosis-deafness syndrome
- ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy
- ORPHA:746Mitochondrial trifunctional protein deficiency
- ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndrome
- ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
- ORPHA:254875TK2-related mitochondrial DNA maintenance defect, myopathic form
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/206966
- This record as JSON: /data/d/206966.json