ORPHA:95433
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
Synonyms: Autosomal recessive spinocerebellar ataxia type 3 · Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome · SCABD · SCAR3
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare autosomal recessive syndromic cerebellar ataxia characterized by the association of early-onset cerebellar ataxia with hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome | Autosomal recessive spinocerebellar ataxia type 3 · Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome · SCABD · SCAR3 |
| fr | Syndrome d'ataxie cérébelleuse autosomique récessive-cécité-surdité | Ataxie spinocérébelleuse autosomique récessive type 3 · SCABD · SCAR3 |
| de | Autosomal-rezessive spinozerebelläre Ataxie-Blindheit-Schwerhörigkeit-Syndrom | Ataxie, spinozerebelläre, autosomal-rezessive, Typ 3 · Autosomal-rezessive spinozerebelläre Ataxie-Blindheit-Hörverlust-Syndrom · SCABD · SCAR3 |
| es | Síndrome de ataxia espinocerebelosa autosómica recesiva-ceguera-sordera | SCABD · SCAR3 · Síndrome de ataxia espinocerebelosa autosómica recesiva tipo 3 · Síndrome de ataxia espinocerebelosa autosómica recesiva-ceguera-hipoacusia |
| it | Sindrome autosomica recessiva atassia spinocerebellare-cecità-sordità | SCAR3 |
| nl | Autosomaal recessieve spinocerebellaire ataxie - blindheid - doofheid-syndroom | Autosomaal recessieve spinocerebellaire ataxie - blindheid - gehoorverlies-syndroom · Autosomaal recessieve spinocerebellaire ataxie type 3 · SCABD · SCAR3 |
| pt | Síndrome de ataxia espinocerebelosa autossómica recessiva-cegueira-surdez | |
| pl | Autosomalna recesywna ataksja móżdżkowa - ślepota - głuchota | SCAR3 |
| cs | Syndrom zahrnující autozomálně recesivní cerebelární ataxii, slepotu a hluchotu | SCAR3 |
| uk | Аутосомно-рецесивний синдром спіноцеребеллярної атаксії-сліпоти-глухоти | Аутосомно-рецесивна спіноцеребеллярна атаксія типу 3 · Аутосомно-рецесивний синдром спіноцеребеллярної атаксії-сліпоти-глухоти · SCABD · SCAR3 |
| zh | 常染色体隐性遗传性脊髓小脑共济失调-盲-聋综合征 | 常染色体隐性遗传性脊髓小脑共济失调-盲-失聪综合征 |
| tr | Otozomal resesif spinoserebellar ataksi-körlük-sağırlık sendromu | SCABD · SCAR3 · Otozomal Çekinik spinoserebellar ataksi tip 3 · Otozomal Çekinik spinoserebellar ataksi-körlük-işitme kaybı sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614863 | NTBT | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| ICD-11 | 8A03.1Y | NTBT | attributed | validated |
| MONDO | 0010061 | E | validated | |
| MONDO | 10061 | E | validated | |
| MONDO | 13931 | E | validated | |
| MeSH | C537309 | E | validated | |
| UMLS | C1849094 | E | validated | |
| GARD | 9971 | 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 (3):
- ORPHA:98096Autosomal recessive metabolic cerebellar ataxia
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:68373Peroxisomal disease
rare inborn errors of metabolism; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PEX6 | Disease-causing germline mutation(s) in | Assessed | HGNC:8859 | ENSG00000124587 | 601498 | 6p21.1 | peroxisomal biogenesis factor 6 | 26669662[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 11175288[PMID]_4154794[PMID] |
| Cases/families | 3 families | Worldwide | Family(ies) | Validated | ORPHANET_11175288[PMID]_4154794[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
19 annotations · validated 2018-11-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000618 | Blindness | |
| HP:0005102 | Cochlear degeneration | |
| HP:0000524 | Conjunctival telangiectasia | |
| HP:0006254 | Elevated alpha-fetoprotein | |
| HP:0002066 | Gait ataxia | |
| HP:0001288 | Gait disturbance | |
| HP:0002346 | Head tremor | |
| HP:0000365 | Hearing impairment | |
| HP:0002166 | Impaired vibration sensation in the lower limbs | |
| HP:0008180 | Mildly elevated creatine kinase | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0002073 | Progressive cerebellar ataxia | |
| HP:0007126 | Proximal amyotrophy | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0000763 | Sensory neuropathy | |
| HP:0002464 | Spastic dysarthria | |
| HP:0007263 | Spinocerebellar atrophy | |
| Excluded (0%) | ||
| HP:0000657 | Oculomotor apraxia | |
Annotation source: 11175288[PMID]_4154794[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/95433
- This record as JSON: /data/d/95433.json