Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
Synonyms: Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies · OXPHOS disease due to nDNA anomalies · OXPHOS disease due to nuclear DNA anomalies
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies | Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies · OXPHOS disease due to nDNA anomalies · OXPHOS disease due to nuclear DNA anomalies |
| fr | Anomalie de la phosphorylation oxydative mitochondriale due à des anomalies de l'ADN nucléaire | Anomalie de la phosphorylation oxydative mitochondriale due à des anomalies de l'ADNn · Maladie OXPHOS due à des anomalies de l'ADN nucléaire · Maladie OXPHOS due à des anomalies de l'ADNn |
| de | Mitochondriale Störung der oxidativen Phosphorylierung durch Anomalien der nukleären DNA | OXPHOS-Defekt aufgrund von nDNA-Anomalien |
| es | Trastorno de la fosforilación oxidativa mitocondrial por anomalías del ADN nuclear | Enfermedad OXPHOS por anomalías del ADN nuclear |
| it | Difetto della fosforilazione ossidativa mitocondriale da anomalie del DNA nucleare | |
| nl | Stoornis van mitochondriale oxidatieve fosforylatie door anomalieën van nucleair DNA | OXPHOS-ziekte door anomalieën van nucleair DNA · OXPHOS-ziekte door nDNA-anomalieën · Stoornis van mitochondriale oxidatieve fosforylatie door nDNA-anomalieën |
| pt | Doença da fosforilação oxidativa mitocondrial por anomalias do ADN nuclear | Doenças mitocondriais de origem nuclear |
| pl | Zaburzenie mitochondrialnej fosforylacji oksydacyjnej spowodowane nieprawidłowościami jądrowego DNA | Zaburzenie mitochondrialnej fosforylacji oksydacyjnej spowodowane nieprawidłowościami nDNA · Choroba OXPHOS spowodowana anomaliami jądrowego DNA · Choroba OXPHOS spowodowana anomaliami nDNA |
| cs | Porucha mitochondriální oxidativní fosforylace způsobená anomáliemi jaderné DNA | Porucha mitochondriální oxidativní fosforylace způsobená anomáliemi nDNA · OXPHOS nemoc způsobená anomáliemi nDNA · OXPHOS nemoc způsobená anomáliemi jaderné DNA |
| uk | Порушення окисного фосфорилювання в мітохондріях через аномалії ядерної ДНК | Порушення мітохондріального окисного фосфорилювання внаслідок аномалій яДНК · Хвороба OXPHOS внаслідок аномалій яДНК · Хвороба OXPHOS внаслідок аномалій ядерної ДНК |
| zh | 核DNA异常所致线粒体氧化磷酸化障碍 | 核DNA异常所致线粒体氧化磷酸化障碍 |
| tr | Çekirdek DNA'sı anomalilerine bağlı mitokondriyal oksidatif fosforilasyon bozukluğu | nDNA anomalilerine bağlı mitokondriyal oksidatif fosforilasyon bozukluğu · nDNA anomalilerine bağlı OXPHOS hastalığı · Nükleer DNA anomalilerine bağlı OXPHOS hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16578 | E | validated | |
| UMLS | C5679573 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:223713Mitochondrial oxidative phosphorylation disorder
rare inborn errors of metabolism; rare genetic diseases
Children (15):
- ORPHA:435998Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
- ORPHA:35656Coenzyme Q10 deficiency
- ORPHA:330054Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
- ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- ORPHA:527276Encephalopathy due to mitochondrial and peroxisomal fission defect
- ORPHA:1561Fatal infantile cytochrome C oxidase deficiency
- ORPHA:506Leigh syndrome
- ORPHA:478049Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
- ORPHA:352456Mitochondrial DNA maintenance syndrome
- ORPHA:309136Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
- ORPHA:35696Mitochondrial disorder due to a defect in mitochondrial protein synthesis
- ORPHA:254822Mitochondrial oxidative phosphorylation disorder with no known mechanism
- ORPHA:199337Pancreatic insufficiency-anemia-hyperostosis syndrome
- ORPHA:611237Parkinsonism with polyneuropathy
- ORPHA:391351SURF1-related Charcot-Marie-Tooth disease type 4
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 9 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2443
- This record as JSON: /data/d/2443.json