Combined oxidative phosphorylation defect type 24
Synonyms: COXPD24
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Combined oxidative phosphorylation defect type 24 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable phenotype, including developmental delay with psychomotor regression, intellectual disability, epilepsy, Leigh syndrome, non-syndromic hearing loss, visual impairment and severe myopathy. Decreased activity of mitochondrial respiratory complexes and lactic acidosis are common findings, and diffuse cerebral atrophy may be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined oxidative phosphorylation defect type 24 | COXPD24 |
| fr | Déficit combiné de la phosphorylation oxydative type 24 | = en |
| de | Kombinierter Defekt der oxidativen Phosphorylierung Typ 24 | = en |
| es | Deficiencia combinada de la fosforilación oxidativa tipo 24 | = en |
| it | Difetto combinato della fosforilazione ossidativa tipo 24 | = en |
| nl | Gecombineerde oxidatieve fosforylatiedeficiëntie type 24 | COXPD24 · Gecombineerde oxidatieve fosforyleringdeficiëntie type 24 |
| pt | Défice combinado da fosforilação oxidativa tipo 24 | |
| pl | Złożony defekt fosforylacji oksydacyjnej typu 24 | = en |
| cs | Kombinovaný deficit oxidativní fosforylace, typ 24 | = en |
| uk | Комбінований дефект окисного фосфорилювання, тип 24 | = en |
| zh | 联合氧化磷酸化缺陷24型 | = en |
| tr | Kombine oksidatif fosforilasyon defekti tip 24 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616239 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.23 | NTBT | attributed | validated |
| MONDO | 0014547 | E | validated | |
| UMLS | C4015643 | 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 |
|---|---|---|---|---|---|---|---|---|
| NARS2 | Disease-causing germline mutation(s) in | Assessed | HGNC:26274 | ENSG00000137513 | 612803 | 11q14.1 | asparaginyl-tRNA synthetase 2, mitochondrial | 25385316[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 25629079[PMID]_25385316[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25629079[PMID]_25385316[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/444458
- This record as JSON: /data/d/444458.json