ORPHA:35696
Mitochondrial disorder due to a defect in mitochondrial protein synthesis
Synonyms: COXPD · Combined OXPHOS defect · Combined OXPHOS deficiency · Combined oxidative phosphorylation defect
- 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 disorder due to a defect in mitochondrial protein synthesis | COXPD · Combined OXPHOS defect · Combined OXPHOS deficiency · Combined oxidative phosphorylation defect |
| fr | Maladie mitochondriale par défaut de synthèse des protéines mitochondriales | COXPD · Déficit OXPHOS combiné · Déficit combiné de la phosphorylation oxydative |
| de | Mitochondriopathie durch Defekt der mitochondrialen Proteinsynthese | COXPD · Kombinierte Störung der oxidativen Phosphorylierung · OXPHOS-Defekt, kombinierter |
| es | Trastorno mitocondrial por un defecto de la síntesis proteica mitocondrial | Defecto combinado de fosforilación oxidativa · Deficiencia combinada de OXPHOS · COXPD · Defecto combinado de OXPHOS |
| it | Disturbo mitocondriale da difetto nella sintesi delle proteine mitocondriali | COXPD · Deficit combinato di OXPHOS · Difetto combinato della fosforilazione ossidativa · Difetto combinato di OXPHOS |
| nl | Mitochondriale stoornis door een defect van mitochondriale proteïnesynthese | COXPD · Gecombineerd OXPHOS-defect · Gecombineerde OXPHOS-deficiëntie · Gecombineerde oxidatieve fosforylatiedeficiëntie |
| pt | Deficiências múltiplas na cadeia respiratória | |
| pl | Zaburzenia mitochondrialne z powodu defektu syntezy białka mitochondrialnego | COXPD · Złożony defekt fosforylacji oksydacyjnej · Złożony defekt OXPHOS · Złożony Niedobór OXPHOS |
| cs | Mitochondriální poruchy způsobené poruchou syntézy mitochondriálních proteinů | COXPD · Kombinovaná porucha OXPHOS · Kombinovaný deficit OXPHOS · Kombinovaná porucha oxidativní fosforylace |
| uk | Мітохондріальне порушення внаслідок дефекту синтезу мітохондріального білка | Комбінований дефект окисного фосфорилювання · Комбінований дефект OXPHOS · Комбінований дефіцит OXPHOS · COXPD |
| zh | 线粒体蛋白合成缺陷所致线粒体疾病 | 联合氧化磷酸化缺乏症 |
| tr | Mitokondriyal protein sentezindeki defekte bağlı mitokondriyal bozukluk | COXPD · Kombine OXPHOS defekti · Kombine OXPHOS eksikliği · Kombine oksidatif fosforilasyon defekti |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18157 | E | validated | |
| UMLS | C4700505 | 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 (44):
- ORPHA:217371Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- ORPHA:314603Autosomal recessive spastic ataxia with leukoencephalopathy
- ORPHA:254343Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
- ORPHA:466722Autosomal recessive spastic paraplegia type 77
- ORPHA:497623C12ORF65-related combined oxidative phosphorylation defect
- ORPHA:436174Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
- ORPHA:324535Combined oxidative phosphorylation defect type 11
- ORPHA:319514Combined oxidative phosphorylation defect type 13
- ORPHA:319519Combined oxidative phosphorylation defect type 14
- ORPHA:319524Combined oxidative phosphorylation defect type 15
- ORPHA:369913Combined oxidative phosphorylation defect type 17
- ORPHA:254920Combined oxidative phosphorylation defect type 2
- ORPHA:420728Combined oxidative phosphorylation defect type 20
- ORPHA:420733Combined oxidative phosphorylation defect type 21
- ORPHA:444013Combined oxidative phosphorylation defect type 23
- ORPHA:444458Combined oxidative phosphorylation defect type 24
- ORPHA:447954Combined oxidative phosphorylation defect type 25
- ORPHA:477684Combined oxidative phosphorylation defect type 26
- ORPHA:477774Combined oxidative phosphorylation defect type 27
- ORPHA:478029Combined oxidative phosphorylation defect type 29
- ORPHA:478042Combined oxidative phosphorylation defect type 30
- ORPHA:565624Combined oxidative phosphorylation defect type 39
- ORPHA:254925Combined oxidative phosphorylation defect type 4
- ORPHA:319504Combined oxidative phosphorylation defect type 8
- ORPHA:319509Combined oxidative phosphorylation defect type 9
- ORPHA:168566Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- ORPHA:137681Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- ORPHA:528091Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
- ORPHA:363694Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- ORPHA:137908Hypotonia with lactic acidemia and hyperammonemia
- ORPHA:352563Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
- ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
- ORPHA:314051Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- ORPHA:314637Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
- ORPHA:2598Mitochondrial myopathy and sideroblastic anemia
- ORPHA:466784Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
- ORPHA:2855Perrault syndrome
- ORPHA:166073Pontocerebellar hypoplasia type 6
- ORPHA:570491QRSL1-related combined oxidative phosphorylation defect
- ORPHA:238329Severe X-linked mitochondrial encephalomyopathy
- ORPHA:99013Spastic paraplegia type 7
- ORPHA:101109Spinocerebellar ataxia type 28
- ORPHA:457223Syndromic sensorineural deafness due to combined oxidative phosphorylation defect
- ORPHA:572798WARS2-related combined oxidative phosphorylation defect
Codes that Orphanet moved or referred to this one:
- ORPHA:309139OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mitochondrial DNA 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/35696
- This record as JSON: /data/d/35696.json