ORPHA:404493
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Synonyms: SCAR23 · Spinocerebellar ataxia autosomal recessive type 23
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency | SCAR23 · Spinocerebellar ataxia autosomal recessive type 23 |
| fr | Syndrome d'ataxie cérébelleuse autosomique récessive-épilepsie-déficience intellectuelle par déficit de TUD | Ataxie spinocérébelleuse autosomique récessive type 23 · SCAR23 |
| de | Autosomal-rezessive zerebelläre Ataxie-Epilepsie-Intelligenzminderung-Syndrom durch TUD-Mangel | Ataxie, spinozerebelläre, autosomal-rezessive, Typ 23 · SCAR23 |
| es | Síndrome de ataxia cerebelosa-epilepsia-discapacidad intelectual autosómico recesivo por deficiencia de TUD | Ataxia espinocerebelosa autosómica recesiva tipo 23 · SCAR23 |
| it | Sindrome autosomica recessiva atassia cerebellare-epilessia-disabilità intellettiva da deficit di TUD | Atassia spinocerebellare autosomica recessiva tipo 23 · SCAR23 |
| nl | Autosomaal recessieve cerebellaire ataxie - epilepsie - intellectuele achterstand-syndroom door TUD-deficiëntie | Autosomaal recessieve spinocerebellaire ataxie type 23 · SCAR23 |
| pt | Síndrome de ataxia cerebelosa-epilepsia-perturbação do desenvolvimento intelectual autossómica recessiva por défice de TUD | Ataxia espinhocerebelosa autossómica recessiva tipo 23 · SCAR23 |
| pl | Zespół autosomalna recesywna ataksja móżdźkowa-padaczka-niepełnosprawność umysłowa | = en |
| cs | Syndrom zahrnující autozomálně recesivní cerebelární ataxii, epilepsii a mentální retardaci, způsobený deficitem TUD | SCAR23 · Autozomálně recesivní spinocerebelární ataxie, typ 23 |
| uk | Аутосомно-рецесивний синдром мозочкової атаксії-епілепсії-інтелектуальної недостатності зумовленої дефіцитом TUD | SCAR23 · Спіноцеребеллярна атаксія, аутосомно-рецесивний тип 23 |
| zh | TUD缺乏导致的常染色体隐性遗传小脑共济失调-癫痫-智力障碍综合征 | 脊髓小脑共济失调常染色体隐性23型 |
| tr | TUD eksikliğine bağlı otozomal resesif serebellar ataksi-epilepsi-zihinsel yetersizlik sendromu | SCAR23 · Spinoserebellar ataksi otozomal çekinik tip 23 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616949 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| MONDO | 0014846 | E | validated | |
| UMLS | C4750914 | 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 (1):
- ORPHA:404481Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability 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 |
|---|---|---|---|---|---|---|---|---|
| TDP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:17768 | ENSG00000111802 | 605764 | 6p22.3 | tyrosyl-DNA phosphodiesterase 2 | 24658003[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 24658003[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24658003[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
6 annotations · validated 2018-04-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001249 | Intellectual disability | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0001251 | Ataxia | |
| Occasional (29-5%) | ||
| HP:0000248 | Brachycephaly | |
| HP:0001290 | Generalized hypotonia | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 24658003[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/404493
- This record as JSON: /data/d/404493.json