Combined oxidative phosphorylation defect type 30
Synonyms: COXPD30
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare mitochondrial oxidative phosphorylation disorder characterized by neonatal onset of hypotonia, feeding difficulties, deafness, and early fatal respiratory failure. Cardiac and liver involvement has been reported. Serum lactate is increased, and metabolic studies show decreased activity of mitochondrial respiratory complexes I and IV in skeletal muscle.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined oxidative phosphorylation defect type 30 | COXPD30 |
| fr | Déficit combiné de la phosphorylation oxydative type 30 | = en |
| de | Kombinierter Defekt der oxidativen Phosphorylierung Typ 30 | = en |
| es | Deficiencia combinada de la fosforilación oxidativa tipo 30 | = en |
| it | Deficit combinato della fosforilazione ossidativa tipo 30 | |
| nl | Gecombineerde oxidatieve fosforylatiedeficiëntie type 30 | COXPD30 · Gecombineerde oxidatieve fosforyleringdeficiëntie type 30 |
| pt | Défice combinado da fosforilação oxidativa tipo 30 | |
| pl | Złożony defekt fosforylacji oksydacyjnej typu 30 | = en |
| cs | Kombinovaný defekt oxidativní fosforylace, typ 30 | = en |
| uk | Комбінований дефект окисного фосфорилювання, тип 30 | = en |
| zh | 复合氧化磷酸化缺陷30型 | = en |
| tr | Kombine oksidatif fosforilasyon defekti tip 30 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616974 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.23 | NTBT | attributed | validated |
| MONDO | 0014856 | E | validated | |
| UMLS | C5567605 | 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 |
|---|---|---|---|---|---|---|---|---|
| TRMT10C | Disease-causing germline mutation(s) in | Assessed | HGNC:26022 | ENSG00000174173 | 615423 | 3q12.3 | tRNA methyltransferase 10C, mitochondrial RNase P subunit | 27132592[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 27132592[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27132592[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/478042
- This record as JSON: /data/d/478042.json