Combined oxidative phosphorylation defect type 8
Synonyms: COXPD8
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined oxidative phosphorylation defect type 8 | COXPD8 |
| fr | Déficit combiné de la phosphorylation oxydative type 8 | = en |
| de | Kombinierter Defekt der oxidativen Phosphorylierung Typ 8 | = en |
| es | Deficiencia combinada de la fosforilación oxidativa tipo 8 | = en |
| it | Difetto combinato della fosforilazione ossidativa, tipo 8 | = en |
| nl | Gecombineerde oxidatieve fosforylatiedeficiëntie type 8 | COXPD8 · Gecombineerd defect in oxidatieve fosforylering type 8 |
| pt | Defeito combinado da fosforilação oxidativa, tipo 8 | |
| pl | Złożony defekt fosforylacji oksydacyjnej typu 8 | = en |
| cs | Kombinovaná porucha oxidativní fosforylace, typ 8 | = en |
| uk | Комбінований дефект окисного фосфорилювання, тип 8 | = en |
| zh | 复合氧化磷酸化缺陷8型 | = en |
| tr | Kombine oksidatif fosforilasyon defekti tip 8 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614096 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.23 | NTBT | attributed | validated |
| MONDO | 0013570 | E | validated | |
| UMLS | C4518839 | 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 (2):
- ORPHA:35696Mitochondrial disorder due to a defect in mitochondrial protein synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AARS2 | Disease-causing germline mutation(s) in | Assessed | HGNC:21022 | ENSG00000124608 | 612035 | 6p21.1 | alanyl-tRNA synthetase 2, mitochondrial | 21549344[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 21549344[PMID]_25058219[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21549344[PMID]_25058219[PMID] |
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/319504
- This record as JSON: /data/d/319504.json