Autosomal recessive cerebellar ataxia - blindness - deafness
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SPINOCEREBELLAR ATAXIA WITH BLINDNESS AND DEAFNESS SCAR3 SCABD |
| Number of Symptoms | 7 |
| OrphanetNr: | 95433 |
| OMIM Id: |
271250
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| ICD-10: |
G11.1 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 3 families [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal recessive syndromic cerebellar ataxia
-Rare eye disease -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000618) | Blindness | 124 / 7739 | ||||
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(HPO:0005102) | Cochlear degeneration | 5 / 7739 | ||||
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(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(MedDRA:10057660) | Spinocerebellar ataxia | 4 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Optic degeneration | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Van Bogaert and Martin (1974) and Spoendlin (1974) described a recessively inherited spinocerebellar ataxia of uncertain classification with optic and cochlear degeneration leading to blindness and deafness. Presumably this was not the Refsum syndrome (266500), which has similar ... |