ORPHA:35656
Coenzyme Q10 deficiency
Synonyms: CoQ10 deficiency · Primary coenzyme Q10 deficiency · Primary ubiquinone deficiency
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- 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 | Coenzyme Q10 deficiency | CoQ10 deficiency · Primary coenzyme Q10 deficiency · Primary ubiquinone deficiency |
| fr | Déficit en coenzyme Q10 | Déficit en CoQ10 · Déficit primaire en coenzyme Q10 · Déficit primaire en ubiquinone |
| de | Coenzym Q10-Mangel | CoQ10-Mangel · Primäre Coenzym-Q10 Defizienz · Primärer Ubichinon-Mangel |
| es | Deficiencia de coenzima Q10 | Deficiencia de CoQ10 · Deficiencia primaria de coenzima Q10 · Deficiencia primaria de ubiquinona |
| it | Deficit del coenzima Q10 | Deficit di CoQ10 |
| nl | Deficiëntie van co-enzym Q10 | CoQ10-deficiëntie · Primaire deficiëntie van co-enzym Q10 · Primaire ubiquinondeficiëntie |
| pt | Deficiência de coenzima Q10 | Deficiência de CoQ10 · Deficiência de coenzima Q10 primária · Deficiência primária de ubiquinona |
| pl | Niedobór koenzymu Q 10 | Niedobór CoQ10 |
| cs | Deficit koenzymu Q10 | Deficit CoQ10 |
| uk | Дефіцит коензиму Q10 | Дефіцит CoQ10 |
| zh | 辅酶Q10缺乏症 | CoQ10缺乏 |
| tr | Koenzim Q10 eksikliği | CoQ10 eksikliği |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C53.22 | E | specific | validated |
| MONDO | 0018151 | E | validated | |
| MONDO | 18151 | E | validated | |
| MeSH | C564403 | E | validated | |
| UMLS | C1843920 | E | validated | |
| GARD | 10423 | 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:225700Mitochondrial disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:225703Mitochondrial disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:2443Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
Children (6):
- ORPHA:139485Autosomal recessive ataxia due to ubiquinone deficiency
- ORPHA:658778COQ7-related distal hereditary motor neuropathy
- ORPHA:254898Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
- ORPHA:319678Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
- ORPHA:280406Familial steroid-resistant nephrotic syndrome with sensorineural deafness
- ORPHA:457185Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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/35656
- This record as JSON: /data/d/35656.json