ORPHA:254776
Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
Synonyms: Mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA · OXPHOS disease due to a point mutation of mitochondrial DNA · OXPHOS disease due to a point mutation of mtDNA
- 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 due to a point mutation of mitochondrial DNA | Mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA · OXPHOS disease due to a point mutation of mitochondrial DNA · OXPHOS disease due to a point mutation of mtDNA |
| fr | Anomalie de la phosphorylation oxydative mitochondriale due à une mutation ponctuelle de l'ADN mitochondrial | Anomalie de la phosphorylation oxydative mitochondriale due à une mutation ponctuelle de l'ADNmt · Maladie OXPHOS due à une mutation ponctuelle de l'ADN mitochondrial · Maladie OXPHOS due à une mutation ponctuelle de l'ADNmt |
| de | Mitochondriale Störungen der oxidativen Phosphorylierung durch Punktmutation der mitochondrialen DNA | OXPHOS-Defekt durch Punktmutation der mtDNA · OXPHOS-Krankheit durch Punktmutation der mitochondrialen DNA · Störung der oxidativen Phosphorylierung (OXPHOS) durch Punktmutation der mtDNA |
| es | Trastorno de la fosforilación oxidativa mitocondrial por una mutación puntual del ADN mitocondrial | Enfermedad OXPHOS por una mutación puntual del ADN mitocondrial · Enfermedad OXPHOS por una mutación puntual del ADNmt · Trastorno de la fosforilación oxidativa mitocondrial por una mutación puntual del ADNmt |
| it | Difetto della fosforilazione ossidativa mitocondriale da mutazione puntiforme del DNA mitocondriale | Difetto della fosforilazione ossidativa mitocondriale da mutazione puntiforme del mtDNA · Malattia OXPHOS da mutazione puntiforme del DNA mitocondriale · Malattia OXPHOS da mutazione puntiforme del mtDNA |
| nl | Stoornis van mitochondriale oxidatieve fosforylatie door puntmutatie van mitochondriaal DNA | OXPHOS-ziekte door puntmutatie van mitochondriaal DNA · OXPHOS-ziekte door puntmutatie van mtDNA · Stoornis van mitochondriale oxidatieve fosforylatie door puntmutatie van mtDNA |
| pt | Doença da fosforilação oxidativa mitocondrial por mutação pontual no ADN mitocondrial | Doença da OXPHOS por mutação pontual no ADN mitocondrial · Doença da OXPHOS por mutação pontual no ADNmt · Doença da fosforilação oxidativa mitocondrial por mutação pontual no ADNmt |
| pl | Zaburzenie mitochondrialnej fosforylacji oksydacyjnej z powodu punktowej mutacji mitochondrialnego DNA | Choroba OXPHOS z powodu punktowej mutacji mitochondrialnego DNA · Choroba OXPHOS z powodu punktowej mutacji mtDNA · Zaburzenie mitochondrialnej fosforylacji oksydacyjnej z powodu punktowej mutacji mtDNA |
| cs | Porucha mitochondriální oxidativní fosforylace způsobená bodovou mutací mitochondriální DNA | Porucha mitochondriální oxidativní fosforylace způsobená bodovou mutací mtDNA · Porucha OXPHOS způsobená bodovou mutací mitochondriální DNA · Porucha OXPHOS způsobená bodovou mutací mtDNA |
| uk | Порушення окисного фосфорилювання мітохондрій внаслідок точкової мутації мітохондріальної ДНК | Порушення мітохондріального окисного фосфорилювання внаслідок точкової мутації мтДНК · Захворювання OXPHOS, спричинене точковою мутацією мітохондріальної ДНК · Захворювання OXPHOS, спричинене точковою мутацією мтДНК |
| zh | 线粒体DNA点突变所致线粒体氧化磷酸化障碍 | 线粒体DNA点突变所OXPHOS病 |
| tr | Mitokondriyal DNA'nın nokta mutasyonuna bağlı mitokondriyal oksidatif fosforilasyon bozukluğu | Mitokondriyal DNA'nın nokta mutasyonuna bağlı OXPHOS hastalığı · MtDNA'nın nokta mutasyonuna bağlı mitokondriyal oksidatif fosforilasyon bozukluğu · MtDNA'nın nokta mutasyonuna bağlı OXPHOS hastalığı |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16793 | E | validated | |
| UMLS | C5679645 | 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:254758Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
rare inborn errors of metabolism; rare genetic diseases
Children (13):
- ORPHA:620371Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation
- ORPHA:324525Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
- ORPHA:104Leber hereditary optic neuropathy
- ORPHA:99718Leber plus disease
- ORPHA:550MELAS
- ORPHA:551MERRF
- ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
- ORPHA:1349Mitochondrial DNA-related cardiomyopathy and hearing loss
- ORPHA:254851Mitochondrial DNA-related dystonia
- ORPHA:254788Mitochondrial DNA-related mitochondrial myopathy
- ORPHA:90641Mitochondrial non-syndromic sensorineural deafness
- ORPHA:644NARP syndrome
- ORPHA:397750Periodic paralysis with later-onset distal motor neuropathy
Codes that Orphanet moved or referred to this one:
- ORPHA:255225OBSOLETE: Maternally-inherited mitochondrial hypertrophic cardiomyopathy referred to · inactive
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/254776
- This record as JSON: /data/d/254776.json