KEGG DISEASE: Christianson syndrome

KEGG

DISEASE: Christianson syndrome

Entry

H01914                      Disease

Name

Christianson syndrome

Supergrp

X-linked syndromic intellectual developmental disorder [DS:H00658]

Description

Christianson syndrome (CS) is a rare, X-linked mental retardation syndrome, caused by mutations in SLC9A6. CS is characterized by severe intellectual disability, microcephaly, epilepsy, ataxia, and absent speech. The clinical phenotype of CS mimics Angelman syndrome and CS was initially called X-linked Angelman-like syndrome.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
LD90 Conditions with disorders of intellectual development as a relevant clinical feature
H01914 Christianson syndrome

Gene

SLC9A6 [HSA:10479] [KO:K12041]

Comment

See also H01732 Angelman syndrome (AS) and H00658 Syndromic X-linked mental retardation.

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Bosemani T, Zanni G, Hartman AL, Cohen R, Huisman TA, Bertini E, Poretti A

Title

Christianson syndrome: spectrum of neuroimaging findings.

Journal

Neuropediatrics 45:247-51 (2014)
DOI:10.1055/s-0033-1363091

Reference

Authors

Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjoholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE, Undlien DE, Stromme P

Title

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.

Journal

Am J Hum Genet 82:1003-10 (2008)
DOI:10.1016/j.ajhg.2008.01.013

LinkDB

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