ORPHA:254822
Mitochondrial oxidative phosphorylation disorder with no known mechanism
Synonyms: OXPHOS disease with no known mechanism
- 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mitochondrial oxidative phosphorylation disorder with no known mechanism | OXPHOS disease with no known mechanism |
| fr | Anomalie de la phosphorylation oxydative mitochondriale de mécanisme inconnu | Maladie OXPHOS de mécanisme inconnu |
| de | Mitochondriale Störungen der oxidativen Phosphorylierung mit unbekanntem Mechanismus | OXPHOS-Krankheit ohne bekannte Ursache |
| es | Trastorno de la fosforilación oxidativa mitocondrial de mecanismo desconocido | Enfermedad OXPHOS de mecanismo desconocido |
| it | Difetto della fosforilazione ossidativa mitocondriale da meccanismo sconosciuto | Malattia OXPHOS da meccanismo sconosciuto |
| nl | Stoornis van mitochondriale oxidatieve fosforylatie met onbekend mechanisme | OXPHOS-ziekte met onbekend mechanisme |
| pt | Doença da fosforilação oxidativa mitocondrial de mecanismo desconhecido | Doença da OXPHOS sem mecanismo conhecido |
| pl | Zaburzenie mitochondrialnej fosforylacji oksydacyjnej o nieznanym mechaniźmie | Choroba OXPHOS o nieznanym mechaniźmie |
| cs | Porucha mitochondriální oxidativní fosforylace způsobená neznámým mechanismem | Porucha OXPHOS způsobená neznámým mechanismem |
| uk | Порушення окисного фосфорилювання мітохондрій з невідомим механізмом | Захворювання OXPHOS з невідомим механізмом |
| zh | 机制不明的线粒体氧化磷酸化障碍 | 机制不明的OXPHOS病 |
| tr | Mekanizması bilinmeyen mitokondriyal oksidatif fosforilasyon bozukluğu | Mekanizması bilinmeyen OXPHOS hastalığı |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16799 | E | validated | |
| UMLS | C5679634 | 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:2443Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
rare inborn errors of metabolism; rare genetic diseases
Children (9):
- ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intolerance
- ORPHA:67036Autosomal dominant optic atrophy and cataract
- ORPHA:250932Autosomal dominant optic atrophy and peripheral neuropathy
- ORPHA:98673Autosomal dominant optic atrophy, classic form
- ORPHA:227976Autosomal recessive optic atrophy, OPA7 type
- ORPHA:166105FASTKD2-related infantile mitochondrial encephalomyopathy
- ORPHA:391348Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
- ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
- ORPHA:50812Zellweger-like syndrome without peroxisomal anomalies
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/254822
- This record as JSON: /data/d/254822.json