H01038 | |
H number | H01038 |
Name | Cerebellar ataxia cayman type; Cayman ataxia |
Description | Cerebellar ataxia cayman type (ATCAY) is an autosomal recessive disorder characterized by hypotonia, mental retardation, and cerebellar dysfunction with marked cerebellar hypoplasia. It has been reported that mutation of the ATCAY gene encoding Caytaxin causes ATCAY by interfering with normal splicing. |
Category | Nervous system disease |
Network | - |
Gene | ATCAY [HSA:85300] [KO:K18450] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 8A03.1Y ICD-10: G11.0 MeSH: C563363 OMIM: 601238 |
Reference | PMID:17157273 AUTHORS Hayakawa Y, Itoh M, Yamada A, Mitsuda T, Nakagawa T TITLE Expression and localization of Cayman ataxia-related protein, Caytaxin, is regulated in a developmental- and spatial-dependent manner. JOURNAL Brain Res 1129:100-9 (2007) DOI:10.1016/j.brainres.2006.10.068 |