KEGG DISEASE: CAPOS syndrome

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 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:

ICD-10:

MeSH:

OMIM:

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

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

LinkDB

» Japanese version

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