ORPHA:497623
C12ORF65-related combined oxidative phosphorylation defect
Synonyms: C12ORF65-related COXPD
- Type
- Clinical group
- Group
- Group of disorders
- Age of onset
- All ages
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | C12ORF65-related combined oxidative phosphorylation defect | C12ORF65-related COXPD |
| fr | Déficit combiné de la phosphorylation oxydative associé à C12ORF65 | COXPD associé à C12ORF65 |
| de | C12ORF65-assoziierter kombinierter Defekt der oxidativen Phosphorylierung | |
| es | Deficiencia combinada de la fosforilación oxidativa asociado a C12ORF65 | COXPD asociada a C12ORF65 |
| it | Difetto combinato della fosforilazione ossidativa correlato a C12ORF65 | |
| nl | C12ORF65-gerelateerde gecombineerde oxidatieve fosforylatiedeficiëntie | C12ORF65-gerelateerde COXPD |
| pt | Defeito de fosforilação oxidativa combinado C12ORF65-relacionado | |
| pl | Złożony defekt fosforylacji oksydacyjnej związany z C12ORF65 | = en |
| cs | C12ORF65-vázaná kombinovaná porucha oxidativní fosforylace | C12ORF65-related COXPD · C12ORF65-vázaná COXPD |
| uk | Комбінований дефект окисного фосфорилювання, повязаний з C12ORF65 | C12ORF65-асоційоване ХОЗЛ |
| zh | C12ORF65相关的联合氧化磷酸化缺陷 | = en |
| tr | C12ORF65 -ilişkili birleşik oksidatif fosforilasyon defekti | C12ORF65-ilişkili COXPD |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680089 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- 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 - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27858754[PMID] |
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | 27858754[PMID]_28091420[PMID]_28804760[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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/497623
- This record as JSON: /data/d/497623.json