ORPHA:217587
Mitochondrial disease with hypertrophic cardiomyopathy
- 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 disease with hypertrophic cardiomyopathy | |
| fr | Maladie mitochondriale avec cardiomyopathie hypertrophique | |
| de | Mitochondriale Krankheit mit hypertropher Kardiomyopathie | |
| es | Enfermedad mitocondrial con miocardiopatía hipertrófica | |
| it | Malattia mitocondriale con cardiomiopatia ipertrofica | |
| nl | Mitochondriale ziekte met hypertrofische cardiomyopathie | |
| pt | Doença mitocondrial com miocardiopatia hipertrófica | |
| pl | Choroba mitochondrialna z kardiomiopatią przerostową | |
| cs | Mitochondriální choroba s hypertrofickou kardiomyopatií | |
| uk | Мітохондріальна хвороба з гіпертрофічною кардіоміопатією | |
| zh | 线粒体疾病伴肥厚型心肌病 | |
| tr | Hipertrofik kardiyomiyopati ile seyreden mitokondriyal hastalık |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16327 | E | validated | |
| UMLS | C5680879 | 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:99739Rare familial disorder with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders
Children (15):
- ORPHA:6562791p36.33 duplication syndrome
- ORPHA:369913Combined oxidative phosphorylation defect type 17
- ORPHA:444013Combined oxidative phosphorylation defect type 23
- ORPHA:1369Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
- ORPHA:319678Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
- ORPHA:324525Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
- ORPHA:352563Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
- ORPHA:99718Leber plus disease
- ORPHA:550MELAS
- ORPHA:551MERRF
- ORPHA:1349Mitochondrial DNA-related cardiomyopathy and hearing loss
- ORPHA:314637Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
- ORPHA:457185Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
- ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndrome
- ORPHA:570491QRSL1-related combined oxidative phosphorylation defect
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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/217587
- This record as JSON: /data/d/217587.json