MCID: CHR174
MIFTS: 26

Christianson Syndrome malady

Categories: Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Christianson Syndrome

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Aliases & Descriptions for Christianson Syndrome:

Name: Christianson Syndrome 46 24 25
X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome 46
X-Linked Intellectual Disability - Craniofacial Dysmorphism - Epilepsy - Ophthalmoplegia - Cerebellar Atrophy 46
Intellectual Disability Microcephaly Epilepsy and Ataxia Syndrome 46
Intellectual Disability X-Linked Syndromic Christianson Type 46
Mental Retardation, X-Linked, Syndromic, Christianson Type 66
 
X-Linked Intellectual Disability, South African Type 46
Intellectual Deficit, X-Linked, South African Type 24
Angelman-Like Syndrome, X-Linked 24
X-Linked Angelman-Like Syndrome 46
Angelman-Like Syndrome X-Linked 46
Mrxs Christianson 46

Classifications:



Summaries for Christianson Syndrome

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NIH Rare Diseases:46 Christianson syndrome is an x-linked syndrome associated with intellectual disability, microcephaly, seizures, ataxia, and absent speech. many individuals with this condition have a happy demeanor with frequent smiling and unprovoked laughter, similar to those with angelman syndrome. christianson syndrome is caused by mutations in the slc9a6 gene, which is located within the q24-q27 interval of the x chromosome. there appears to be a range of phenotypes in carrier females, from intellectual disability to absence of symptoms. last updated: 1/26/2015

MalaCards based summary: Christianson Syndrome, also known as x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome, is related to mental retardation, x-linked syndromic, christianson type and slc9a6-related syndromic mental retardation, and has symptoms including ataxia, ataxia and drooling. An important gene associated with Christianson Syndrome is SLC9A6 (Solute Carrier Family 9 Member A6).

Genetics Home Reference:24 Christianson syndrome is a disorder that primarily affects the nervous system. This condition becomes apparent in infancy. Its characteristic features include delayed development, intellectual disability, an inability to speak, problems with balance and coordination (ataxia), and difficulty standing or walking. Individuals who do learn to walk lose the ability in childhood. Most affected children also have recurrent seizures (epilepsy), beginning between ages 1 and 2.

Related Diseases for Christianson Syndrome

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Diseases related to Christianson Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1mental retardation, x-linked syndromic, christianson type11.3
2slc9a6-related syndromic mental retardation10.9
3status epilepticus9.9
4retinitis9.9
5neuronitis9.9

Graphical network of diseases related to Christianson Syndrome:



Diseases related to christianson syndrome

Symptoms for Christianson Syndrome

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UMLS symptoms related to Christianson Syndrome:


ataxia, drooling, ophthalmoplegia, sleep disturbances, ataxia, truncal

Drugs & Therapeutics for Christianson Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Christianson Syndrome

Genetic Tests for Christianson Syndrome

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Genetic tests related to Christianson Syndrome:

id Genetic test Affiliating Genes
1 Christianson Syndrome25

Anatomical Context for Christianson Syndrome

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Animal Models for Christianson Syndrome or affiliated genes

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Publications for Christianson Syndrome

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Articles related to Christianson Syndrome:

(show all 13)
idTitleAuthorsYear
1
A Christianson syndrome-linked deletion mutation (a88(287)ES(288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death. (27590723)
2016
2
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome. (27256868)
2016
3
Novel endosomal mechanisms in human axonal growth mediated by Christianson syndrome protein NHE6. (26531385)
2015
4
X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities. (26515654)
2015
5
Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome. (25044251)
2014
6
A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES). (24630051)
2014
7
Inaugural Christianson Syndrome Association conference: families meeting for the first time. (25273398)
2014
8
Novel SLC9A6 mutations in two families with Christianson syndrome. (22931061)
2013
9
Christianson syndrome protein NHE6 modulates TrkB endosomal signaling required for neuronal circuit development. (24035762)
2013
10
Christianson Syndrome: Spectrum of Neuroimaging Findings. (24285247)
2013
11
Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum. (22541666)
2013
12
Christianson syndrome in a patient with an interstitial Xq26.3 deletion. (21932316)
2011
13
Natural history of Christianson syndrome. (20949524)
2010

Variations for Christianson Syndrome

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Expression for genes affiliated with Christianson Syndrome

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Search GEO for disease gene expression data for Christianson Syndrome.

Pathways for genes affiliated with Christianson Syndrome

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GO Terms for genes affiliated with Christianson Syndrome

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Sources for Christianson Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet