Combined oxidative phosphorylation defect type 20
Synonyms: COXPD20
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare mitochondrial oxidative phosphorylation disorder characterized by variable combination of psychomotor delay, hypotonia, muscle weakness, seizures, microcephaly, cardiomyopathy and mild dysmorphic facial features. Variable types of structural brain anomalies have also been reported. Biochemical studies typically show decreased activity of mitochondrial complexes (mainly complex I).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined oxidative phosphorylation defect type 20 | COXPD20 |
| fr | Déficit combiné de la phosphorylation oxydative type 20 | = en |
| de | Kombinierter Defekt der oxidativen Phosphorylierung Typ 20 | = en |
| es | Deficiencia combinada de la fosforilación oxidativa tipo 20 | = en |
| it | Difetto combinato della fosforilazione ossidativa tipo 20 | = en |
| nl | Gecombineerde oxidatieve fosforylatiedeficiëntie type 20 | COXPD20 · Gecombineerde oxidatieve fosforyleringdeficiëntie type 20 |
| pt | Défice combinado da fosforilação oxidativa tipo 20 | |
| pl | Złożony defekt fosforylacji oksydacyjnej typu 20 | = en |
| cs | Kombinovaný deficit oxidativní fosforylace, typ 20 | = en |
| uk | Комбінований дефект окисного фосфорилювання, тип 20 | = en |
| zh | 联合氧化磷酸化缺陷症20型 | = en |
| tr | Kombine oksidatif fosforilasyon defekti tip 20 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615917 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.23 | NTBT | attributed | validated |
| MONDO | 0014397 | E | validated | |
| UMLS | C4014660 | 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 |
|---|---|---|---|---|---|---|---|---|
| VARS2 | Disease-causing germline mutation(s) in | Assessed | HGNC:21642 | ENSG00000137411 | 612802 | 6p21.33 | valyl-tRNA synthetase 2, mitochondrial | 24827421[PMID]_25058219[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 24958846[PMID]_25058219[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24958846[PMID]_25058219[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/420728
- This record as JSON: /data/d/420728.json