ORPHA:352403
Spectrin-associated autosomal recessive cerebellar ataxia
Synonyms: Autosomal recessive spinocerebellar ataxia type 14 · Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome · SCAR14 · SPARCA · SPARCA1 · Spectrin-associated autosomal recessive cerebellar ataxia type 1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to <i>SPTBN2</i> mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spectrin-associated autosomal recessive cerebellar ataxia | Autosomal recessive spinocerebellar ataxia type 14 · Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome · SCAR14 · SPARCA · SPARCA1 · Spectrin-associated autosomal recessive cerebellar ataxia type 1 |
| fr | Ataxie cérébelleuse autosomique récessive associée à la spectrine | Ataxie cérébelleuse autosomique récessive type 1 associée à la spectrine · Ataxie spinocérébelleuse autosomique récessive type 14 · Ataxie spinocérébelleuse à début infantile avec retard psychomoteur · SCAR14 · SPARCA · SPARCA1 |
| de | Zerebelläre Ataxie, autosomal-rezessive, Spectrin-assoziierte | Ataxie, spinozerebelläre, autosomal-rezessive, Typ 14 · Autosomal-rezessive zerebelläre Ataxie - kognitive Störung · SCAR14 · SPARCA · SPARCA1 · Spectrin-assoziierte autosomal-rezessive zerebelläre Ataxie Typ 1 · Spinozerebelläre Ataxie mit Beginn im Kindesalter und psychomotorischer Retardierung |
| es | Ataxia cerebelosa autosómica recesiva asociada a la espectrina | Ataxia cerebelosa autosómica recesiva asociada a la espectrina tipo 1 · Ataxia espinocerebelosa autosómica recesiva tipo 14 · SCAR14 · SPARCA · SPARCA1 · Síndrome de inicio en la lactancia de ataxia espinocerebelosa-retraso psicomotor |
| it | Atassia cerebellare autosomica recessiva associata alla spettrina | Atassia cerebellare autosomica recessiva - deficit cognitivo · Atassia cerebellare autosomica recessiva associata alla spettrina, tipo 1 · Atassia spinocerebellare autosomica recessiva, tipo 14 · SCAR14 · SPARCA · SPARCA1 |
| nl | Spectrine-geassocieerde autosomaal recessieve cerebellaire ataxie | Autosomaal recessieve spinocerebellaire ataxie type 14 · Infantiel optredende spinocerebellaire ataxie - psychomotorische achterstand-syndroom · SCAR14 · SPARCA · SPARCA1 · Spectrine-geassocieerde autosomaal recessieve cerebellaire ataxie type 1 |
| pt | Ataxia cerebelosa autossómica recessiva associada à espectrina | SPARCA1 · Síndrome de ataxia espinocerebelosa-atraso psicomotor de início na infância · Ataxia cerebelosa autossómica recessiva associada à espectrina tipo 1 · Ataxia cerebelosa autossómica recessiva tipo 14 · SCAR14 · SPARCA |
| pl | Autosomalna recesywna ataksja móżdżkowa związana ze spektryną | Autosomalna recesywna ataksja móżdżkowa - defekt poznawczy · Autosomalna recesywna ataksja móżdżkowa związana ze spektryną typu 1 · SPARCA · SPARCA1 |
| cs | Autozomálně recesivní cerebelární ataxie způsobená mutacemi v genu kódujícím spektrin | SCAR14 · SPARCA · SPARCA1 · Syndrom zahrnující autozomálně recesivní cerebelární ataxii a kognitivní poruchy · Autozomálně recesivní spinocerebelární ataxie, typ 14 · Autozomálně recesivní cerebelární ataxie, typ 1, asociovaná se spektrinem |
| uk | Спектрин-асоційована аутосомно-рецесивна мозочкова атаксія | Аутосомно-рецесивна спіноцеребеллярна атаксія, тип 14 · Спіноцеребеллярна атаксія та синдром психомоторної затримки, що починається в дитячому віці · SCAR14 · SPARCA · SPARCA1 · Спектрин-асоційована аутосомно-рецесивна мозочкова атаксія типу 1 |
| zh | 血影蛋白相关常染色体隐性小脑共济失调 | 婴儿起病脑桥小脑共济失调-精神运动延迟综合征 |
| tr | Spektrin-ilişkili otozomal resesif serebellar ataksi | SCAR14 · SPARCA · SPARCA1 · Otozomal çekinik spinoserebellar ataksi tip 14 · Spektrin ilişkili otozomal çekinik serebellar ataksi tip 1 · İnfantil başlangıçlı spinoserebellar ataksi-psikomotor gecikme sendromu · Psikomotor gecikmeli infantil başlangıçlı spinoserebellar ataksi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615386 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| MONDO | 0014159 | E | validated | |
| UMLS | C4706415 | 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 (2):
- ORPHA:1172Autosomal recessive 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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SPTBN2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11276 | ENSG00000173898 | 604985 | 11q13.2 | spectrin beta, non-erythrocytic 2 | 23236289[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 23236289[PMID]_23838597[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
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HPO phenotypes
20 annotations · validated 2018-02-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002073 | Progressive cerebellar ataxia | |
| Frequent (79-30%) | ||
| HP:0001272 | Cerebellar atrophy | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001260 | Dysarthria | |
| HP:0002075 | Dysdiadochokinesis | |
| HP:0001310 | Dysmetria | |
| HP:0001263 | Global developmental delay | |
| HP:0001347 | Hyperreflexia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0007240 | Progressive gait ataxia | |
| HP:0001350 | Slurred speech | |
| HP:0002078 | Truncal ataxia | |
| Occasional (29-5%) | ||
| HP:0000651 | Diplopia | |
| HP:0000641 | Dysmetric saccades | |
| HP:0000666 | Horizontal nystagmus | |
| HP:0002080 | Intention tremor | |
| HP:0008003 | Jerky ocular pursuit movements | |
| HP:0000639 | Nystagmus | |
| HP:0001257 | Spasticity | |
| HP:0000486 | Strabismus | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 23838597[PMID]_23236289[PMID]_NBK1138[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/352403
- This record as JSON: /data/d/352403.json