MCID: SLC019
MIFTS: 11

Slc9a6-Related Syndromic Mental Retardation

Categories: Genetic diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Slc9a6-Related Syndromic Mental Retardation

MalaCards integrated aliases 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 69
Angelman-Like Syndrome, X-Linked 24
Christianson Syndrome 24
Mrxs-Christianson 24

Classifications:



Summaries for Slc9a6-Related Syndromic Mental Retardation

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, ophthalmoplegia and sleep disturbances. 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

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

id Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked syndromic, christianson type 11.8
2 status epilepticus 9.8
3 retinitis 9.8
4 neuronitis 9.8

Symptoms & Phenotypes for Slc9a6-Related Syndromic Mental Retardation

UMLS symptoms related to Slc9a6-Related Syndromic Mental Retardation:


ataxia, ophthalmoplegia, sleep disturbances, ataxia, truncal

Drugs & Therapeutics for Slc9a6-Related Syndromic Mental Retardation

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

Genetic Tests for Slc9a6-Related Syndromic Mental Retardation

Genetic tests related to Slc9a6-Related Syndromic Mental Retardation:

id Genetic test Affiliating Genes
1 Slc9a6-Related Syndromic Mental Retardation 24 SLC9A6

Anatomical Context for Slc9a6-Related Syndromic Mental Retardation

Publications for Slc9a6-Related Syndromic Mental Retardation

Variations for Slc9a6-Related Syndromic Mental Retardation

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

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC9A6 NM_001042537.1(SLC9A6): c.608_609delAT (p.His203Leufs) deletion Pathogenic rs730882188 GRCh37 Chromosome X, 135080645: 135080646
2 SLC9A6 NM_001042537.1(SLC9A6): c.860_865delAAAGTG (p.Glu287_Ser288del) deletion Pathogenic rs886037619 GRCh38 Chromosome X, 136002174: 136002179
3 SLC9A6 NM_001042537.1(SLC9A6): c.1498C> T (p.Arg500Ter) single nucleotide variant Pathogenic rs122461162 GRCh37 Chromosome X, 135106524: 135106524
4 SLC9A6 NM_001042537.1(SLC9A6): c.603+3_603+4delAAinsCC indel Pathogenic rs730882187 GRCh37 Chromosome X, 135080347: 135080348
5 SLC9A6 NM_001042537.1(SLC9A6): c.1012_1020delGGTGCTGCT (p.Gly338_Ala340del) deletion Pathogenic rs398122849 GRCh37 Chromosome X, 135092713: 135092721
6 SLC9A6 NM_001042537.1(SLC9A6): c.1639G> T (p.Glu547Ter) single nucleotide variant Pathogenic rs398123003 GRCh37 Chromosome X, 135112313: 135112313
7 SLC9A6 NM_001042537.1(SLC9A6): c.183delG (p.Lys61Asnfs) deletion Pathogenic rs587784398 GRCh37 Chromosome X, 135067844: 135067844
8 SLC9A6 NM_001042537.1(SLC9A6): c.2078T> G (p.Leu693Ter) single nucleotide variant Pathogenic rs587784399 GRCh37 Chromosome X, 135126855: 135126855
9 SLC9A6 NM_001042537.1(SLC9A6): c.604-1G> A single nucleotide variant Pathogenic rs797044508 GRCh37 Chromosome X, 135080640: 135080640
10 SLC9A6 NM_001042537: c.916delC undetermined variant Pathogenic
11 SLC9A6 NM_001042537.1(SLC9A6): c.882delT (p.Ala295Profs) deletion Pathogenic rs1057519394 GRCh37 Chromosome X, 135084355: 135084355

Expression for Slc9a6-Related Syndromic Mental Retardation

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

Pathways for Slc9a6-Related Syndromic Mental Retardation

GO Terms for Slc9a6-Related Syndromic Mental Retardation

Sources for Slc9a6-Related Syndromic Mental Retardation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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