Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
Synonyms: Autosomal recessive spinocerebellar ataxia type 15 · SCAR15 · Salih ataxia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
An extremely rare, autosomal recessive, hereditary cerebellar ataxia disorder characterized by early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria, and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition, and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency | Autosomal recessive spinocerebellar ataxia type 15 · SCAR15 · Salih ataxia |
| fr | Syndrome d'ataxie cérébelleuse autosomique récessive-épilepsie-déficience intellectuelle par déficit de RUBCN | Ataxie de Salih · Ataxie spinocérébelleuse autosomique récessive type 15 · SCAR15 |
| de | Autosomal-rezessive zerebelläre Ataxie-Epilepsie-Intelligenzminderung-Syndrom durch RUBCN-Mangel | Ataxie, spinozerebelläre, autosomal-rezessive, Typ 15 · SCAR15 · Salih-Ataxie |
| es | Síndrome de ataxia cerebelosa-epilepsia-discapacidad intelectual autosómico recesivo por deficiencia de RUBCN | Ataxia de Salih · Ataxia espinocerebelosa autosómica recesiva tipo 15 · SCAR15 |
| it | Sindrome autosomica recessiva atassia cerebellare-epilessia-disabilità intellettiva da deficit di RUBCN | Atassia di Salih · Atassia spinocerebellare autosomica recessiva, tipo 15 · SCAR15 |
| nl | Autosomaal recessieve cerebellaire ataxie - epilepsie - intellectuele achterstand-syndroom door RUBCN-deficiëntie | Ataxie van Salih · Autosomaal recessieve spinocerebellaire ataxie type 15 · SCAR15 |
| pt | Síndrome de ataxia cerebelosa-epilepsia-perturbação do desenvolvimento intelectual autossómica recessiva por défice de RUBCN | Ataxia Salih · Ataxia espinhocerebelosa autossómica recessiva tipo 15 · SCAR15 |
| pl | Zespół autosomalna recesywna atakcja móżdżkowa-padaczka-niepełnosprawność intelektualna z powodu niedoboru KIAA0226 | Autosomalna recesywna ataksja rdzeniowo-móżdżkowa typu 15 · SCAR15 |
| cs | Syndrom zahrnující autozomálně recesivní cerebelární ataxii, epilepsii a mentální retardaci, způsobený deficitem KIAA0226 | Autozomálne recesivní spinocerebelární ataxie, typ 15 · SCAR15 · Autozomálně recesivní spinocerebelární ataxie, typ 15 |
| uk | Аутосомно-рецесивний синдром мозочкової атаксії-епілепсії-інтелектуальної недостатності, зумовленої дефіцитом RUBCN | Аутосомно-рецесивна спіноцеребеллярна атаксія типу 15 · Атаксія Саліха · SCAR15 |
| zh | RUBCN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 | 萨利赫共济失调 |
| tr | RUBCN eksikliğine bağlı otozomal resesif serebellar ataksi-epilepsi-zihinsel yetersizlik sendromu | Otozomal çekinik spinoserebellar ataksi tip 15 · SCAR15 · Salih ataksi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615705 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| MONDO | 0014311 | E | validated | |
| UMLS | C3810326 | 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 |
|---|---|---|---|---|---|---|---|---|
| RUBCN | Disease-causing germline mutation(s) in | Assessed | HGNC:28991 | ENSG00000145016 | 613516 | 3q29 | rubicon autophagy regulator | 23728897[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 23728897[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23728897[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.
HPO phenotypes
11 annotations · validated 2018-04-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002194 | Delayed gross motor development | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001260 | Dysarthria | |
| HP:0002066 | Gait ataxia | |
| HP:0001265 | Hyporeflexia | |
| HP:0002070 | Limb ataxia | |
| Frequent (79-30%) | ||
| HP:0001249 | Intellectual disability | |
| HP:0001152 | Saccadic smooth pursuit | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0000639 | Nystagmus | |
| HP:0002172 | Postural instability | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 20826435[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/404499
- This record as JSON: /data/d/404499.json