Combined oxidative phosphorylation defect type 14
Synonyms: COXPD14
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Combined oxidative phosphorylation defect type 14 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by neonatal or infancy-onset of seizures that are refractory to treatment, delayed or absent psychomotor development and lactic acidosis. Additional manifestations reported include poor feeding, failure to thrive, microcephaly, hypotonia, anemia and thrombocytopenia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined oxidative phosphorylation defect type 14 | COXPD14 |
| fr | Déficit combiné de la phosphorylation oxydative type 14 | = en |
| de | Kombinierter Defekt der oxidativen Phosphorylierung Typ 14 | = en |
| es | Deficiencia combinada de la fosforilación oxidativa tipo 14 | = en |
| it | Difetto combinato della fosforilazione ossidativa, tipo 14 | = en |
| nl | Gecombineerde oxidatieve fosforylatiedeficiëntie type 14 | COXPD14 · Gecombineerd defect in oxidatieve fosforylering type 14 |
| pt | Defeito combinado da fosforilação oxidativa, tipo 14 | |
| pl | Złożony defekt fosforylacji oksydacyjnej typu 14 | = en |
| cs | Kombinovaná porucha oxidativní fosforylace, typ 14 | = en |
| uk | Комбінований дефект окисного фосфорилювання, тип 14 | = en |
| zh | 复合氧化磷酸化缺陷14型 | = en |
| tr | Kombine oksidatif fosforilasyon defekti tip 14 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614946 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.23 | NTBT | attributed | validated |
| MONDO | 0013986 | E | validated | |
| UMLS | C4755312 | 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 |
|---|---|---|---|---|---|---|---|---|
| FARS2 | Disease-causing germline mutation(s) in | Assessed | HGNC:21062 | ENSG00000145982 | 611592 | 6p25.1 | phenylalanyl-tRNA synthetase 2, mitochondrial | 22499341[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 22833457[PMID]_22499341[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22833457[PMID]_22499341[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/319519
- This record as JSON: /data/d/319519.json