Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Synonyms: Autosomal recessive spinocerebellar ataxia type 12 · SCAR12
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency | Autosomal recessive spinocerebellar ataxia type 12 · SCAR12 |
| fr | Syndrome d'ataxie cérébelleuse autosomique récessive-épilepsie-déficience intellectuelle par déficit de WWOX | Ataxie spinocérébelleuse autosomique récessive type 12 · SCAR12 |
| de | Autosomal-rezessive zerebelläre Ataxie-Epilepsie-Intelligenzminderung-Syndrom durch WWOX-Mangel | Ataxie, spinozerebelläre, autosomal-rezessive, Typ 12 · SCAR12 · Syndrom der autosomal-rezessiven zerebellären Ataxie mit Epilepsie und Intelligenzminderung durch WWOX-Defizienz |
| es | Síndrome de ataxia cerebelosa-epilepsia-discapacidad intelectual autosómico recesivo por deficiencia de WWOX | Ataxia espinocerebelosa autosómica recesiva tipo 12 · SCAR12 |
| it | Sindrome autosomica recessiva atassia cerebellare-epilessia-disabilità intellettiva da deficit di WWOX | Atassia spinocerebellare autosomica recessiva 12 · SCAR12 |
| nl | Autosomaal recessieve cerebellaire ataxie - epilepsie - intellectuele achterstand-syndroom door WWOX-deficiëntie | Autosomaal recessieve spinocerebellaire ataxie type 12 · SCAR12 |
| pt | Síndrome de ataxia cerebelosa-epilepsia-perturbação do desenvolvimento intelectual autossómica recessiva por deficiência WWOX | Ataxia espinhocerebelosa autossómica recessiva tipo 12 · SCAR12 |
| pl | Zespół autosomalna recesywna ataksja móżdżkowa, padaczka i niepełnosprawność intelektualna z powodu niedoboru WWOX | Autosomalna recesywna ataksja rdzeniowo-móżdżkowa-12 · SCAR12 |
| cs | Autozomálně recesivní spinocerebelární ataxie, typ 12 | SCAR12 · Syndrom zahrnující autozomálně recesivní spinocerebelární ataxii, epilepsii a mentální retardaci, způsobený deficitem WWOX |
| uk | Аутосомно-рецесивний синдром мозочкової атаксії-епілепсії-інтелектуальної недостатності внаслідок дефіциту WWOX | Аутосомно-рецесивна спіноцеребеллярна атаксія, тип 12 · SCAR12 |
| zh | WWOX基因缺陷所致常染色体隐性小脑共济失调-癫痫-智障综合征 | 常染色体隐性遗传脊髓小脑共济失调12型 |
| tr | WWOX eksikliğine bağlı otozomal resesif serebellar ataksi-epilepsi-zihinsel yetersizlik sendromu | SCAR12 · Otozomal çekinik spinoserebellar ataksi tip 12 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614322 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| MONDO | 0013687 | E | validated | |
| UMLS | C3280452 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| WWOX | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12799 | ENSG00000186153 | 605131 | 16q23.1-q23.2 | WW domain containing oxidoreductase | 24369382[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | 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.
HPO phenotypes
8 annotations · validated 2018-04-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0001260 | Dysarthria | |
| HP:0002066 | Gait ataxia | |
| HP:0001265 | Hyporeflexia | |
| HP:0002070 | Limb ataxia | |
| HP:0001270 | Motor delay | |
| HP:0000639 | Nystagmus | |
| Occasional (29-5%) | ||
| HP:0002839 | Urinary bladder sphincter dysfunction | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 17470496[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/284282
- This record as JSON: /data/d/284282.json