KEGG DISEASE: Autosomal dominant cerebellar ataxia, deafness, and narcolepsy

KEGG

DISEASE: Autosomal dominant cerebellar ataxia, deafness, and narcolepsy

Entry

H02940                      Disease

Name

Autosomal dominant cerebellar ataxia, deafness, and narcolepsy

Description

Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN) is characterized by late onset cerebellar ataxia, sensory neuronal deafness, narcolepsy-cataplexy and dementia. It has been reported that mutations in DNMT1 cause this disease. DNMT1 is a widely expressed DNA methyltransferase maintaining methylation patterns in development, and mediating transcriptional repression by direct binding to HDAC2.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2H  Syndromic genetic deafness
    H02940  Autosomal dominant cerebellar ataxia, deafness, and narcolepsy

Gene

DNMT1 [HSA:1786] [KO:K00558]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Melberg A, Hetta J, Dahl N, Nennesmo I, Bengtsson M, Wibom R, Grant C, Gustavson KH, Lundberg PO

Title

Autosomal dominant cerebellar ataxia deafness and narcolepsy.

Journal

J Neurol Sci 134:119-29 (1995)
DOI:10.1016/0022-510x(95)00228-0

Reference

Authors

Winkelmann J, Lin L, Schormair B, Kornum BR, Faraco J, Plazzi G, Melberg A, Cornelio F, Urban AE, Pizza F, Poli F, Grubert F, Wieland T, Graf E, Hallmayer J, Strom TM, Mignot E

Title

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.

Journal

Hum Mol Genet 21:2205-10 (2012)
DOI:10.1093/hmg/dds035

LinkDB

» Japanese version

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