ORPHA:139485
Autosomal recessive ataxia due to ubiquinone deficiency
Synonyms: ARCA2 · Autosomal recessive ataxia due to coenzyme Q10 deficiency · Autosomal recessive cerebellar ataxia type 2 · Autosomal recessive spinocerebellar ataxia type 9 · SCAR9
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive ataxia due to ubiquinone deficiency | ARCA2 · Autosomal recessive ataxia due to coenzyme Q10 deficiency · Autosomal recessive cerebellar ataxia type 2 · Autosomal recessive spinocerebellar ataxia type 9 · SCAR9 |
| fr | Ataxie cérébelleuse autosomique récessive par déficit en ubiquinone | ARCA2 · Ataxie autosomique récessive par déficit en coenzyme Q10 · Ataxie cérébelleuse autosomique récessive type 2 · Ataxie spinocérébelleuse autosomique récessive type 9 · SCAR9 |
| de | Ataxie, autosomal-rezessive, durch Ubiquinon-Mangel | ARCA2 · Ataxie durch Coenzym Q(10)-Mangel · Ataxie, autosomal-rezessive, 9 · SCAR9 · Zerebelläre Ataxie, rezessive, 2 |
| es | Ataxia autosómica recesiva por deficiencia de ubiquinona | ARCA2 · Ataxia autosómica recesiva por deficiencia de coenzima Q10 · Ataxia cerebelosa recesiva tipo 2 · Ataxia espinocerebelosa autosómica recesiva tipo 9 · SCAR9 |
| it | Atassia autosomica recessiva da deficit di ubichinone | ARCA2 · Atassia autosomica recessiva da deficit del coenzima Q10 · Atassia cerebellare recessiva, tipo 2 · Atassia spinocerebellare autosomica recessiva 9 · SCAR9 |
| nl | Autosomaal recessieve ataxie door ubiquinondeficiëntie | ARCA2 · Autosomaal recessieve ataxie door co-enzym Q10-deficiëntie · Autosomaal recessieve cerebellaire ataxie type 2 · Autosomaal recessieve spinocerebellaire ataxie type 9 · SCAR9 |
| pt | Ataxia autossómica recessiva por deficiência de ubiquinona | Ataxia por deficiência da coenzima Q10 autossómica recessiva |
| pl | Autosomalna recesywna ataksja z powodu niedoboru ubichinionu | ARCA2 · Autosomalna recesywna ataksja móżdżkowo-rdzeniowa-9 · Autosomalna recesywna ataksja z powodu niedoboru koenzymu Q10 · Recesywna ataksja możdżkowa typu 9 · SCAR9 |
| cs | Autozomálně recesivní ataxie způsobená deficitem ubiquinonu | ARCA2 · SCAR9 · Autozomálně recesivní ataxie způsobená deficitem koenzymu Q10 · Autozomálně recesivní mozečková ataxie, typ 2 · Autozomálně recesivní spinocerebelární ataxie, typ 9 |
| uk | Аутосомно-рецесивна атаксія внаслідок дефіциту убіхінону | ARCA2 · Аутосомно-рецесивна атаксія внаслідок дефіциту коензиму Q10 · Аутосомно-рецесивна мозочкова атаксія типу 2 · Аутосомно-рецесивна спіноцеребеллярна атаксія, тип 9 · SCAR9 |
| zh | 辅酶Q缺乏所致常染色体隐性遗传共济失调 | 辅酶Q10缺陷所致常染色体隐性遗传共济失调 |
| tr | Ubikinon eksikliğine bağlı otozomal resesif ataksi | ARCA2 · SCAR9 · Otozomal çekinik serebellar ataksi tip 2 · Otozomal çekinik spinoserebellar ataksi tip 9 · Koenzim Q10 eksikliğine bağlı otozomal çekinik ataksi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612016 | BTNT | validated | |
| OMIM | 619028 | BTNT | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | index | validated |
| MONDO | 0012784 | E | validated | |
| MeSH | C567436 | E | validated | |
| UMLS | C2677589 | E | validated | |
| GARD | 10294 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:1172Autosomal recessive cerebellar ataxia
rare genetic diseases; rare neurological diseases - ORPHA:35656Coenzyme Q10 deficiency
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COQ8A | Disease-causing germline mutation(s) in | Assessed | HGNC:16812 | ENSG00000163050 | 606980 | 1q42.13 | coenzyme Q8A | 20301317[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 31 cases | Worldwide | Case(s) | Validated | 24164873[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
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HPO phenotypes
24 annotations · validated 2018-02-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001272 | Cerebellar atrophy | |
| HP:0002073 | Progressive cerebellar ataxia | |
| Frequent (79-30%) | ||
| HP:0001348 | Brisk reflexes | |
| HP:0002376 | Developmental regression | |
| HP:0003546 | Exercise intolerance | |
| HP:0012752 | Focal T2 hypointense basal ganglia lesion | |
| HP:0001252 | Hypotonia | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0004696 | Talipes cavus equinovarus | |
| Occasional (29-5%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0003457 | EMG abnormality | |
| HP:0001347 | Hyperreflexia | |
| HP:0002490 | Increased CSF lactate | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0003128 | Lactic acidosis | |
| HP:0001336 | Myoclonus | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0001250 | Seizure | |
| HP:0000486 | Strabismus | |
| HP:0001337 | Tremor | |
| Very rare (<4-1%) | ||
| HP:0001332 | Dystonia | |
| HP:0000771 | Gynecomastia | |
| HP:0000365 | Hearing impairment | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 18319072[PMID]_18319074[PMID]_15326254[PMID]_12682339[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/139485
- This record as JSON: /data/d/139485.json