loading...| Preferred Name | Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies | |
| Synonyms |
Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies OXPHOS disease due to nuclear DNA anomalies OXPHOS disease due to nDNA anomalies |
|
| Definitions |
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. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_2443 |
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| alternative_term |
Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies OXPHOS disease due to nuclear DNA anomalies OXPHOS disease due to nDNA anomalies |
|
| definition |
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. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2443 |
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| has_age_of_onset |
All ages |
|
| has_inheritance |
Autosomal recessive |
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| hasDbXref |
UMLS:C5679573 |
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| label |
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies |
|
| notation |
Category ORPHA:2443 |
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| prefixIRI |
ORDO:Orphanet_2443 |
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| prefLabel |
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies |
|
| present_in |
Europe AND has_point_prevalence_average_value : 9.0 AND has_point_prevalence_range : 1-9 / 100 000 |
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| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_2443 | EFO | SAME_URI | |
| http://www.orpha.net/ORDO/Orphanet_2443 | EFO | LOOM | |
| http://www.limics.org/hrdo/rdfns#pat_id_277 | HRDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0016578 | KTAO | LOOM |