Combined oxidative phosphorylation defect type 25
Synonyms: COXPD25
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterized by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined oxidative phosphorylation defect type 25 | COXPD25 |
| fr | Déficit combiné de la phosphorylation oxydative type 25 | = en |
| de | Kombinierter Defekt der oxidativen Phosphorylierung Typ 25 | = en |
| es | Deficiencia combinada de la fosforilación oxidativa tipo 25 | = en |
| it | Difetto combinato della fosforilazione ossidativa, tipo 25 | = en |
| nl | Gecombineerde oxidatieve fosforylatiedeficiëntie type 25 | COXPD25 · Gecombineerde oxidatieve fosforyleringdeficiëntie type 25 |
| pt | Défice combinado da fosforilação oxidativa tipo 25 | |
| pl | Złożony defekt fosforylacji oksydacyjnej typu 25 | = en |
| cs | Kombinovaný deficit oxidativní fosforylace, typ 25 | = en |
| uk | Комбінований дефект окисного фосфорилювання, тип 25 | = en |
| zh | 联合氧化磷酸化缺陷25型 | = en |
| tr | Kombine oksidatif fosforilasyon defekti tip 25 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616430 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.23 | NTBT | attributed | validated |
| MONDO | 0014636 | E | validated | |
| UMLS | C5567742 | 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 (3):
- 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 - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MARS2 | Disease-causing germline mutation(s) in | Assessed | HGNC:25133 | ENSG00000247626 | 609728 | 2q33.1 | methionyl-tRNA synthetase 2, mitochondrial | 25754315[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 25754315[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25754315[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/447954
- This record as JSON: /data/d/447954.json