Combined oxidative phosphorylation defect type 21
Synonyms: COXPD21
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined oxidative phosphorylation defect type 21 | COXPD21 |
| fr | Déficit combiné de la phosphorylation oxydative type 21 | = en |
| de | Kombinierter Defekt der oxidativen Phosphorylierung Typ 21 | = en |
| es | Deficiencia combinada de la fosforilación oxidativa tipo 21 | = en |
| it | Difetto combinato della fosforilazione ossidativa, tipo 21 | = en |
| nl | Gecombineerde oxidatieve fosforylatiedeficiëntie type 21 | COXPD21 · Gecombineerd defect in oxidatieve fosforylering type 21 |
| pt | Défice combinado da fosforilação oxidativa tipo 21 | |
| pl | Złożony defekt fosforylacji oksydacyjnej typu 21 | = en |
| cs | Kombinovaný deficit oxidativní fosforylace, typ 21 | = en |
| uk | Комбінований дефект окисного фосфорилювання, тип 21 | = en |
| zh | 联合氧化磷酸化缺陷症21型 | = en |
| tr | Kombine oksidatif fosforilasyon defekti tip 21 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615918 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.23 | NTBT | attributed | validated |
| MONDO | 0014398 | E | validated | |
| UMLS | C4706316 | 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 |
|---|---|---|---|---|---|---|---|---|
| TARS2 | Disease-causing germline mutation(s) in | Assessed | HGNC:30740 | ENSG00000143374 | 612805 | 1q21.2 | threonyl-tRNA synthetase 2, mitochondrial | 24827421[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 24827421[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24827421[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/420733
- This record as JSON: /data/d/420733.json