ORPHA:1186
Infantile-onset spinocerebellar ataxia
Synonyms: IOSCA · Ohaha syndrome · Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile-onset spinocerebellar ataxia | IOSCA · Ohaha syndrome · Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome |
| fr | Ataxie spinocérébelleuse infantile | Syndrome Ohaha · Syndrome d'ophtalmoplégie-hypotonie-ataxie-hypoacousie-athétose |
| de | Ataxie, infantile spinozerebelläre | IOSCA · Ohaha-Syndrom · Ophtalmoplegie-Hypotonie-Ataxie-Hypoakusis-Atethose-Syndrom |
| es | Ataxia espinocerebelosa de inicio en el lactante | IOSCA · Oftalmoplejía-ataxia-hipoacusia · Síndrome de Ohaha |
| it | Atassia spinocerebellare a esordio infantile | IOSCA · Oftalmoplegia - atassia - ipoacusia · Sindrome di Ohaha |
| nl | Infantiele spinocerebellaire ataxie | IOSCA · OHAHA-syndroom · Oftalmoplegie - hypotonie - ataxie - hypoacousis - athetose-syndroom |
| pt | Ataxia espinocerebelosa de início na infância | IOSCA · Oftalmoplegia-ataxia-surdez · Síndrome Ohaha |
| pl | Dziecięca ataksja rdzeniowo-mózdżkowa | IOSCA · Oftalmoplegia - hipotonia - ataksja - niedosłuch - atetoza · Zespół Ohaha |
| cs | Spinocerebelární ataxie s nástupem v dětském věku | IOSCA · OHAHA syndrom · Syndrom zahrnující oftalmoplegii, hypotonii, ataxii, hypakuzi a atetózu |
| uk | Інфантильна спіноцеребеллярна атаксія | IOSCA · Синдром Охаха · Синдром офтальмоплегії-гіпотонії-атаксії-гіпоакузії-атетозу |
| zh | 婴儿起病型脊髓小脑共济失调 | 眼外肌麻痹-肌张力低下-共济失调-听觉减退-手足徐动综合征 |
| tr | İnfantil başlangıçlı spinoserebellar ataksi | IOSCA · Ohaha sendromu · Oftalmopleji-hipotoni-ataksi-hipoakuzi-atetoz sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 271245 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | index | validated |
| MONDO | 0010060 | E | validated | |
| MeSH | C535523 | E | validated | |
| UMLS | C1849096 | E | validated | |
| GARD | 4062 | 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:98098Autosomal recessive degenerative and progressive cerebellar ataxia
rare genetic diseases; rare neurological diseases - ORPHA:254871Mitochondrial DNA depletion syndrome, hepatocerebral form
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases - ORPHA:68385Neurometabolic disease
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 |
|---|---|---|---|---|---|---|---|---|
| TWNK | Disease-causing germline mutation(s) in | Assessed | HGNC:1160 | ENSG00000107815 | 606075 | 10q24.31 | twinkle mtDNA helicase | 20301746[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 29 cases | Worldwide | Case(s) | Validated | 27551684[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20301746[PMID]_27551684[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.
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HPO phenotypes
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0002270 | Abnormality of the autonomic nervous system | |
| HP:0001251 | Ataxia | |
| HP:0000365 | Hearing impairment | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0000648 | Optic atrophy | |
| HP:0001315 | Reduced tendon reflexes | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1186
- This record as JSON: /data/d/1186.json