Combined oxidative phosphorylation defect type 26
Synonyms: COXPD26
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype which may present as exercise intolerance with prominent exertional dyspnea, progressive muscle weakness, spasticity, and neuropathy, but without cognitive impairment or cardiac involvement, or as global developmental delay, growth retardation, hypotonia, and spasticity. Hypertrophic cardiomyopathy, optic atrophy, seizures, and dysmorphic facial features have also been reported in the more severe phenotype. Serum lactate may be elevated, and muscle biopsy shows myopathic features and variably decreased activity of mitochondrial respiratory chain complexes.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined oxidative phosphorylation defect type 26 | COXPD26 |
| fr | Déficit combiné de la phosphorylation oxydative type 26 | = en |
| de | Kombinierter Defekt der oxidativen Phosphorylierung Typ 26 | = en |
| es | Deficiencia combinada de la fosforilación oxidativa tipo 26 | = en |
| it | Difetto combinato della fosforilazione ossidativa tipo 26 | |
| nl | Gecombineerde oxidatieve fosforylatiedeficiëntie type 26 | COXPD26 · Gecombineerde oxidatieve fosforyleringdeficiëntie type 26 |
| pt | Défice combinado da fosforilação oxidativa tipo 26 | |
| pl | Złożony defekt fosforylacji oksydacyjnej typu 26 | = en |
| cs | Kombinovaný defekt oxidativní fosforylace, typ 26 | = en |
| uk | Комбінований дефект окисного фосфорилювання, тип 26 | = en |
| zh | 复合氧化磷酸化缺陷26型 | = en |
| tr | Kombine oksidatif fosforilasyon defekti tip 26 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616539 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.23 | NTBT | attributed | validated |
| MONDO | 0014684 | E | validated | |
| UMLS | C5567741 | 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 |
|---|---|---|---|---|---|---|---|---|
| TRMT5 | Disease-causing germline mutation(s) in | Assessed | HGNC:23141 | ENSG00000126814 | 611023 | 14q23.1 | tRNA methyltransferase 5 | 26189817[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 26189817[PMID]_2544623[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26189817[PMID]_2544623[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/477684
- This record as JSON: /data/d/477684.json