Details of Disease | DrugMAP

General Information of Disease (ID: DISRO2JZ)

Disease Name	Autosomal recessive cerebellar ataxia-blindness-deafness syndrome
Synonyms	spinocerebellar ataxia with blindness and deafness; autosomal recessive cerebellar ataxia - blindness - deafness; spinocerebellar ataxia, autosomal recessive 3; autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome; spinocerebellar ataxia autosomal recessive 3; autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome; SCABD; SCAR3; autosomal recessive spinocerebellar ataxia type 3
Disease Hierarchy	DISGMOMI: Autosomal recessive syndromic cerebellar ataxia DISRO2JZ: Autosomal recessive cerebellar ataxia-blindness-deafness syndrome
Disease Identifiers	MONDO ID MONDO_0010061 MESH ID C537309 UMLS CUI C1849094 OMIM ID 271250 MedGen ID 338611 Orphanet ID 95433 SNOMED CT ID 1204415006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC52A2	TT6TKEN	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PEX6	OTFAK5EF	Supportive	Autosomal recessive	[2]
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References

1	SLC52A2 mutations cause SCABD2 phenotype: A second report.Int J Pediatr Otorhinolaryngol. 2018 Jan;104:195-199. doi: 10.1016/j.ijporl.2017.11.014. Epub 2017 Nov 20.
2	Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2). Eur J Hum Genet. 2016 Aug;24(8):1154-9. doi: 10.1038/ejhg.2015.259. Epub 2015 Dec 16.