ORPHA:88644
Autosomal recessive ataxia, Beauce type
Synonyms: ARCA1 · Autosomal recessive cerebellar ataxia type 1 · SCAR8
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult, Childhood, Neonatal
- Status
- active
A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several <i<SYNE1</i> gene mutations.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive ataxia, Beauce type | ARCA1 · Autosomal recessive cerebellar ataxia type 1 · SCAR8 |
| fr | Ataxie cérébelleuse autosomique récessive type Beauce | ARCA1 · Ataxie cérébelleuse autosomique récessive type 1 · SCAR8 |
| de | Ataxie, autosomal-rezessive, Typ Beauce | ARCA1 · SCAR8 · Zerebelläre Ataxie, autosomal-rezessive, Typ 1 |
| es | Ataxia autosómica recesiva tipo Beauce | ARCA1 · Ataxia cerebelosa autosómica recesiva tipo 1 · SCAR8 |
| it | Atassia autosomica recessiva, tipo Beauce | ARCA1 · Atassia cerebellare autosomica recessiva, tipo 1 · Atassia cerebellare, autosomica recessiva, tipo 1 · SCAR8 |
| nl | Autosomaal recessieve ataxie, Beauce-type | ARCA1 · Autosomaal recessieve cerebellaire ataxie type 1 · SCAR8 |
| pt | Ataxia autossómica recessiva, tipo Beauce | |
| pl | Autosomalna recesywna ataksja typu Beauce'a | ARCA1 · Autosomalna recesywna ataksja móżdżkowa typu 1 · SCAR8 |
| cs | Autozomálně recesivní ataxie, typ Beauce | ARCA1 · SCAR8 · Autozomálně recesivní cerebelární ataxie, typ 1 |
| uk | Аутосомно-рецесивна атаксія, тип Бьюса | ARCA1 · Аутосомно-рецесивна мозочкова атаксія типу 1 · SCAR8 |
| zh | 常染色体隐性遗传共济失调，Beauce型 | 常染色体隐性遗传性小脑性共济失调1型 |
| tr | Otozomal resesif ataksi, Beauce tipi | ARCA1 · SCAR8 · Otozomal Çekinik serebellar ataksi tip 1 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610743 | E | validated | |
| ICD-10 | G11.2 | NTBT | attributed | validated |
| MONDO | 0012549 | E | validated | |
| MeSH | C579934 | E | validated | |
| UMLS | C3683483 | E | validated | |
| GARD | 12234 | 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 |
|---|---|---|---|---|---|---|---|---|
| SYNE1 | Disease-causing germline mutation(s) in | Assessed | HGNC:17089 | ENSG00000131018 | 608441 | 6q25.2 | spectrin repeat containing nuclear envelope protein 1 | 17159980[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 57 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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
41 annotations · validated 2020-08-31| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0001288 | Gait disturbance | |
| HP:0002493 | Upper motor neuron dysfunction | |
| Frequent (79-30%) | ||
| HP:0003487 | Babinski sign | |
| HP:0002380 | Fasciculations | |
| HP:0001347 | Hyperreflexia | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0002061 | Lower limb spasticity | |
| HP:0001270 | Motor delay | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0000736 | Short attention span | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0000570 | Abnormal saccadic eye movements | |
| HP:0011448 | Ankle clonus | |
| HP:0031960 | Arm dystonia | |
| HP:0007267 | Chronic axonal neuropathy | |
| HP:0002312 | Clumsiness | |
| HP:0001558 | Decreased fetal movement | |
| HP:0001260 | Dysarthria | |
| HP:0001310 | Dysmetria | |
| HP:0003445 | EMG: neuropathic changes | |
| HP:0007772 | Impaired smooth pursuit | |
| HP:0001249 | Intellectual disability | |
| HP:0002808 | Kyphosis | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0000597 | Ophthalmoparesis | |
| HP:0001761 | Pes cavus | |
| HP:0000508 | Ptosis | |
| HP:0002650 | Scoliosis | |
| HP:0025402 | Square-wave jerks | |
| HP:0000486 | Strabismus | |
| HP:0000020 | Urinary incontinence | |
| Very rare (<4-1%) | ||
| HP:0002086 | Abnormality of the respiratory system | |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem | |
| HP:0002495 | Impaired vibratory sensation | |
| HP:0007178 | Motor polyneuropathy | |
| HP:0001271 | Polyneuropathy | |
| HP:0003390 | Sensory axonal neuropathy | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 27086870[PMID]_20301553[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/88644
- This record as JSON: /data/d/88644.json