ORPHA:98
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Synonyms: ARSACS · Autosomal recessive spastic ataxia type 6 · SPAX6
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare neurodegenerative disorder characterized by early-onset cerebellar ataxia, a pyramidal syndrome and peripheral neuropathy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | ARSACS · Autosomal recessive spastic ataxia type 6 · SPAX6 |
| fr | Ataxie spastique autosomique récessive de Charlevoix-Saguenay | ARSACS · Ataxie spastique autosomique récessive type 6 · Ataxie spastique type 6 · SPAX6 |
| de | Ataxie, spastische, autosomal-rezessive, Typ Charlevoix-Saguenay | ARSACS · Ataxie, spastische, autosomal-rezessive, Typ 6 · SPAX6 |
| es | Ataxia espástica autosómica recesiva de Charlevoix-Saguenay | ARSACS · Ataxia espástica autosómica recesiva tipo 6 · SPAX6 |
| it | Atassia spastica autosomica recessiva di Charlevoix-Saguenay | ARSACS |
| nl | Autosomaal recessieve spastische ataxie van Charlevoix-Saguenay | ARSACS · Autosomaal recessieve spastische ataxie type 6 · SPAX6 |
| pt | Ataxia espástica autossómica recessiva de Charlevoix-Saguenay | |
| pl | Autosomalna recesywna ataksja spastyczna Charlevoix i Saguenay | SPAX6 · ARSACS · Autosomalna recesywna ataksja spastyczna typu 6 |
| cs | Autozomálně recesivní spastická ataxie, typ Charlevoix-Saguenay | ARSACS |
| uk | Аутосомно-рецесивна спастична атаксія Шарлевуа-Сагене | ARSACS · Аутосомно-рецесивна спастична атаксія типу 6 · SPAX6 |
| zh | Charlevoix-Saguenay常染色体隐性痉挛性共济失调 | 常染色体隐性痉挛性共济失调6型 |
| tr | Charlevoix-Saguenay'ın otozomal resesif spastik ataksisi | SPAX6 · ARSACS · Otozomal Çekinik spastik ataksi tip 6 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 270550 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| ICD-11 | 8A03.1Y | NTBT | index | validated |
| MONDO | 0010041 | E | validated | |
| MeSH | C536787 | E | validated | |
| UMLS | C1849140 | E | validated | |
| GARD | 4910 | 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 (1):
- ORPHA:316240Autosomal recessive spastic ataxia
rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2823OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome referred to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SACS | Disease-causing germline mutation(s) in | Assessed | HGNC:10519 | ENSG00000151835 | 604490 | 13q12.12 | sacsin molecular chaperone | 20301432[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_20301432[PMID] |
| Prevalence at birth | 6-9 / 10 000 | 51.76 / 100 000 | Specific population | Value and class | Validated | 8472930[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.
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HPO phenotypes
38 annotations · validated 2018-03-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0012896 | Abnormal motor evoked potentials | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0011931 | Abnormality of the cerebellar peduncle | |
| HP:0007361 | Abnormality of the pons | |
| HP:0100702 | Arachnoid cyst | |
| HP:0001251 | Ataxia | |
| HP:0003487 | Babinski sign | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0007108 | Demyelinating peripheral neuropathy | |
| HP:0001260 | Dysarthria | |
| HP:0001310 | Dysmetria | |
| HP:0001288 | Gait disturbance | |
| HP:0007979 | Gaze-evoked horizontal nystagmus | |
| HP:0007922 | Hypermyelinated retinal nerve fibers | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0002061 | Lower limb spasticity | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0001324 | Muscle weakness | |
| HP:0012104 | Parietal cortical atrophy | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0002073 | Progressive cerebellar ataxia | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0001257 | Spasticity | |
| HP:0002317 | Unsteady gait | |
| HP:0000020 | Urinary incontinence | |
| Occasional (29-5%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0003438 | Absent Achilles reflex | |
| HP:0000708 | Atypical behavior | |
| HP:0003693 | Distal amyotrophy | |
| HP:0002015 | Dysphagia | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0002066 | Gait ataxia | |
| HP:0010830 | Impaired tactile sensation | |
| HP:0002495 | Impaired vibratory sensation | |
| HP:0002080 | Intention tremor | |
| Very rare (<4-1%) | ||
| HP:0000802 | Impotence | |
Annotation source: 23497566[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98
- This record as JSON: /data/d/98.json