MCID: SLC019
MIFTS: 11

Slc9a6-Related Syndromic Mental Retardation malady

Categories: Genetic diseases (common), Neuronal diseases, Mental diseases

Aliases & Classifications for Slc9a6-Related Syndromic Mental Retardation

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Aliases & Descriptions for Slc9a6-Related Syndromic Mental Retardation:

Name: Slc9a6-Related Syndromic Mental Retardation 24
Slc9a6-Related Mental Retardation, Microcephaly, Epilepsy and Ataxia 24
Mental Retardation, X-Linked, Syndromic, Christianson Type 67
 
Angelman-Like Syndrome, X-Linked 24
Christianson Syndrome 24
Mrxs-Christianson 24

Classifications:



Summaries for Slc9a6-Related Syndromic Mental Retardation

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MalaCards based summary: Slc9a6-Related Syndromic Mental Retardation, also known as slc9a6-related mental retardation, microcephaly, epilepsy and ataxia, is related to mental retardation, x-linked syndromic, christianson type and status epilepticus, and has symptoms including ataxia, drooling and ophthalmoplegia. An important gene associated with Slc9a6-Related Syndromic Mental Retardation is SLC9A6 (Solute Carrier Family 9 Member A6).

Related Diseases for Slc9a6-Related Syndromic Mental Retardation

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Diseases related to Slc9a6-Related Syndromic Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1mental retardation, x-linked syndromic, christianson type11.7
2status epilepticus9.8
3retinitis9.8
4neuronitis9.8

Symptoms for Slc9a6-Related Syndromic Mental Retardation

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UMLS symptoms related to Slc9a6-Related Syndromic Mental Retardation:


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

Drugs & Therapeutics for Slc9a6-Related Syndromic Mental Retardation

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Slc9a6-Related Syndromic Mental Retardation

Genetic Tests for Slc9a6-Related Syndromic Mental Retardation

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Genetic tests related to Slc9a6-Related Syndromic Mental Retardation:

id Genetic test Affiliating Genes
1 Slc9a6-Related Syndromic Mental Retardation24 SLC9A6

Anatomical Context for Slc9a6-Related Syndromic Mental Retardation

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Animal Models for Slc9a6-Related Syndromic Mental Retardation or affiliated genes

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Publications for Slc9a6-Related Syndromic Mental Retardation

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Variations for Slc9a6-Related Syndromic Mental Retardation

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Clinvar genetic disease variations for Slc9a6-Related Syndromic Mental Retardation:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SLC9A6NM_006359.2(SLC9A6): c.430-9_430-5delTTTTAdeletionPathogenicrs796053290GRCh37Chr X, 135080258: 135080262

Expression for genes affiliated with Slc9a6-Related Syndromic Mental Retardation

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Search GEO for disease gene expression data for Slc9a6-Related Syndromic Mental Retardation.

Pathways for genes affiliated with Slc9a6-Related Syndromic Mental Retardation

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GO Terms for genes affiliated with Slc9a6-Related Syndromic Mental Retardation

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Sources for Slc9a6-Related Syndromic Mental Retardation

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet