KEGG   DISEASE: CAPOS syndrome
Entry
H02272                      Disease                                

Name
CAPOS syndrome
Description
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome is a rare autosomal dominant neurological disorder. CAPOS is characterized by a relapsing, early onset cerebellar ataxia, associated with progressive optic atrophy and sensorineural deafness. An identical heterozygous missense mutation in ATP1A3 gene was found in CAPOS patients.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the nervous system
   H02272  CAPOS syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD20  Syndromes with central nervous system anomalies as a major feature
    H02272  CAPOS syndrome
Gene
ATP1A3 [HSA:478] [KO:K01539]
Other DBs
ICD-11: LD20.0Y
ICD-10: Q07.8
MeSH: C535351
OMIM: 601338
Reference
  Authors
Demos MK, van Karnebeek CD, Ross CJ, Adam S, Shen Y, Zhan SH, Shyr C, Horvath G, Suri M, Fryer A, Jones SJ, Friedman JM
  Title
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
  Journal
Orphanet J Rare Dis 9:15 (2014)
DOI:10.1186/1750-1172-9-15
Reference
PMID:8733056
  Authors
Nicolaides P, Appleton RE, Fryer A
  Title
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome.
  Journal
J Med Genet 33:419-21 (1996)
DOI:10.1136/jmg.33.5.419
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