Combined oxidative phosphorylation defect type 15
Synonyms: COXPD15
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined oxidative phosphorylation defect type 15 | COXPD15 |
| fr | Déficit combiné de la phosphorylation oxydative type 15 | = en |
| de | Kombinierter Defekt der oxidativen Phosphorylierung Typ 15 | = en |
| es | Deficiencia combinada de la fosforilación oxidativa tipo 15 | = en |
| it | Difetto combinato della fosforilazione ossidativa, tipo 15 | = en |
| nl | Gecombineerde oxidatieve fosforylatiedeficiëntie type 15 | COXPD15 · Gecombineerd defect in oxidatieve fosforylering type 15 |
| pt | Defeito combinado da fosforilação oxidativa, tipo 15 | |
| pl | Złożony defekt fosforylacji oksydacyjnej typu 15 | = en |
| cs | Kombinovaná porucha oxidativní fosforylace, typ 15 | = en |
| uk | Комбінований дефект окисного фосфорилювання, тип 15 | = en |
| zh | 复合氧化磷酸化缺陷15型 | = en |
| tr | Kombine oksidatif fosforilasyon defekti tip 15 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614947 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.23 | NTBT | attributed | validated |
| MONDO | 0013987 | E | validated | |
| UMLS | C4706313 | 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 |
|---|---|---|---|---|---|---|---|---|
| MTFMT | Disease-causing germline mutation(s) in | Assessed | HGNC:29666 | ENSG00000103707 | 611766 | 15q22.31 | mitochondrial methionyl-tRNA formyltransferase | 21907147[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 cases | Worldwide | Case(s) | Validated | 24461907[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24461907[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/319524
- This record as JSON: /data/d/319524.json