Details of Disease | DrugMAP

General Information of Disease (ID: DISN1RNS)

Disease Name	Cayman type cerebellar ataxia
Synonyms	cerebellar ataxia, Cayman type; cerebellar ataxia, CAYMAN type; ATCAY; ataxia, cerebellar, Cayman type; Cayman cerebellar ataxia; Cayman ataxia; Cayman type cerebellar ataxia
Definition	Cerebellar ataxia, Cayman type is characterized by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia.
Disease Hierarchy	DISIQCS1: Autosomal recessive congenital cerebellar ataxia DISN1RNS: Cayman type cerebellar ataxia
Disease Identifiers	MONDO ID MONDO_0011025 UMLS CUI C1832585 OMIM ID 601238 MedGen ID 331319 Orphanet ID 94122 SNOMED CT ID 717332007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATCAY	OTSIAM08	Strong	Autosomal recessive	[1]
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References

1	Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. Nat Genet. 2003 Nov;35(3):264-9. doi: 10.1038/ng1255. Epub 2003 Oct 12.