Spinocerebellar ataxia, autosomal recessive 3

Preferred Label : Spinocerebellar ataxia, autosomal recessive 3;

Symbol : SCAR3;

CISMeF acronym : SCABD; SCAR3;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Spinocerebellar ataxia with blindness and deafness; SCABD;

Description : In recessively inherited spinocerebellar ataxia of uncertain classification, Van Bogaert and Martin (1974) and Spoendlin (1974) described optic and cochlear degeneration leading to blindness and deafness. Presumably this was not the Refsum syndrome (266500), which has similar manifestations. Koenig (2001) concluded that the same disorder was present in the consanguineous Israeli family he studied with Bomont et al. (2000). An Israeli uncle and niece were affected by an early-onset recessive ataxia and subsequently developed hearing impairment and optic atrophy. Homozygosity over a 17-cM region allowed demonstration of linkage at 6p23-p21 with a lod score of 3.25. *FIELD* RF 1. Bomont, P.; Watanabe, M.; Gershoni-Barush, R.; Shizuka, M.; Tanaka, M.; Sugano, J.; Guiraud-Chaumeil, C.; Koenig, M.: Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23. Europ. J. Hum. Genet. 8: 986-990, 2000. 2. Koenig, M.: Personal Communication. Strasbourg, France 3/9/2001. 3. Spoendlin, H.: Optic and cochleo-vestibular degenerations in hereditary ataxias. II. Temporal bone pathology in two cases of Friedreich's ataxia with vestibulo-cochlear disorders. Brain 97: 41-48, 1974. 4. Van Bogaert, L.; Martin, L.: Optic and cochleo-vestibular degenerations in the hereditary ataxias. I. Clinico-pathological and genetic aspects. Brain 97: 15-40, 1974. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Prefixed ID : %271250;

Details

Origin ID

271250;

UMLS CUI

C1849094;

Automatic exact mappings (from CISMeF team)
- WASP family member 3 [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder) [SNOMED CT concept]
- Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome [ORDO Disease]
- Spinocerebellar ataxia, autosomal recessive 3 [MeSH concept]
- autosomal recessive spinocerebellar ataxia 3 [DO Concept]
- spinocerebellar ataxia, autosomal recessive 3 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive spinocerebellar ataxia 3 [DO Concept]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Cochlear degeneration [HPO term]
- Deafness [HPO term]
- Hearing impairment [HPO term]
ORDO concept(s)
- Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome [ORDO Disease]
See also inter- (CISMeF)
- WASF3 wt Allele [NCIt concept]
- spinocerebellar ataxia, autosomal recessive 3 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder) [SNOMED CT concept]
- Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome [ORDO Disease]
- Spinocerebellar ataxia, autosomal recessive 3 [MeSH concept]
- autosomal recessive spinocerebellar ataxia 3 [DO Concept]
- spinocerebellar ataxia, autosomal recessive 3 [MeSH Supplementary Concept]

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