Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
Synonyms: Autosomal recessive spinocerebellar ataxia type 11 · SCAR11
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare, hereditary, cerebellar ataxia disorder characterized by late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia, and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive cerebellar ataxia-psychomotor delay syndrome | Autosomal recessive spinocerebellar ataxia type 11 · SCAR11 |
| fr | Syndrome d'ataxie cérébelleuse autosomique récessive-retard psychomoteur | Ataxie spinocérébelleuse autosomique récessive type 11 · SCAR11 |
| de | Autosomal-rezessive zerebelläre Ataxie-psychomotorische Retardierung-Syndrom | Ataxie, spinozerebelläre, autosomal-rezessive, Typ 11 · SCAR11 |
| es | Síndrome de ataxia cerebelosa autosómica recesiva-retraso psicomotor | Ataxia espinocerebelosa autosómica recesiva tipo 11 · SCAR11 |
| it | Atassia cerebellare autosomica recessiva - ritardo psicomotorio | Atassia spinocerebellare autosomica recessiva 11 · SCAR11 |
| nl | Autosomaal recessieve cerebellaire ataxie - psychomotorische achterstand-syndroom | Autosomaal recessieve spinocerebellaire ataxie type 11 · SCAR11 |
| pt | Síndrome de ataxia cerebelosa autossómica recessiva-atraso psicomotor | |
| pl | Autosomalna recesywna ataksja móżdżkowa - opóźnienie psycho-ruchowe | Autosomalna recesywna ataksja rdzeniowo-móżdżkowa-11 · SCAR11 |
| cs | Syndrom zahrnující cerebelární ataxii a psychomotorickou retardaci, autozomálně recesivní | SCAR11 · Autozomálně recesivní spinocerebelární ataxie, typ 11 |
| uk | Аутосомно-рецесивний синдром мозочкової атаксії-психомоторної затримки | Аутосомно-рецесивна спіноцеребеллярна атаксія, тип 11 · SCAR11 |
| zh | 常染色体隐性小脑共济失调-精神运动迟缓综合征 | 常染色体隐性遗传脊髓小脑共济失调11型 |
| tr | Otozomal resesif serebellar ataksi-psikomotor gecikme sendromu | SCAR11 · Otozomal çekinik spinoserebellar ataksi tip 11 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614229 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| MONDO | 0013645 | E | validated | |
| UMLS | C5190803 | 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 (2):
- ORPHA:98099Autosomal recessive syndromic cerebellar ataxia
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.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SYT14 | Disease-causing germline mutation(s) in | Assessed | HGNC:23143 | ENSG00000143469 | 610949 | 1q32.2 | synaptotagmin 14 | 21835308[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
13 annotations · validated 2018-05-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000617 | Abnormality of ocular smooth pursuit | |
| HP:0001251 | Ataxia | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0001260 | Dysarthria | |
| HP:0001288 | Gait disturbance | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0002070 | Limb ataxia | |
| HP:0002078 | Truncal ataxia | |
| Frequent (79-30%) | ||
| HP:0002015 | Dysphagia | |
| HP:0007979 | Gaze-evoked horizontal nystagmus | |
| HP:0000639 | Nystagmus | |
| HP:0002317 | Unsteady gait | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 21835308[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/284271
- This record as JSON: /data/d/284271.json