MCID: SLC018

Slc6a8-Related Creatine Transporter Deficiency malady

Genetic diseases (common) category

Aliases & Classifications for Slc6a8-Related Creatine Transporter Deficiency

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Slc6a8-Related Creatine Transporter Deficiency, Aliases & Descriptions:

Name: Slc6a8-Related Creatine Transporter Deficiency 20
 
Creatine Deficiency, X-Linked 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Summaries for Slc6a8-Related Creatine Transporter Deficiency

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MalaCards based summary: Slc6a8-Related Creatine Transporter Deficiency, also known as creatine deficiency, x-linked, is related to cerebral creatine deficiency syndrome 1. An important gene associated with Slc6a8-Related Creatine Transporter Deficiency is SLC6A8 (solute carrier family 6 (neurotransmitter transporter), member 8).

Related Diseases for Slc6a8-Related Creatine Transporter Deficiency

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Diseases related to Slc6a8-Related Creatine Transporter Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cerebral creatine deficiency syndrome 110.4

Symptoms for Slc6a8-Related Creatine Transporter Deficiency

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Drugs & Therapeutics for Slc6a8-Related Creatine Transporter Deficiency

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Drug clinical trials:

Search ClinicalTrials for Slc6a8-Related Creatine Transporter Deficiency

Search NIH Clinical Center for Slc6a8-Related Creatine Transporter Deficiency

Genetic Tests for Slc6a8-Related Creatine Transporter Deficiency

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Genetic tests related to Slc6a8-Related Creatine Transporter Deficiency:

id Genetic test Affiliating Genes
1 Slc6a8-Related Creatine Transporter Deficiency20 SLC6A8

Anatomical Context for Slc6a8-Related Creatine Transporter Deficiency

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Animal Models for Slc6a8-Related Creatine Transporter Deficiency or affiliated genes

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Publications for Slc6a8-Related Creatine Transporter Deficiency

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Variations for Slc6a8-Related Creatine Transporter Deficiency

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Clinvar genetic disease variations for Slc6a8-Related Creatine Transporter Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1SLC6A8NM_005629.3(SLC6A8): c.1540C> T (p.Arg514Ter)single nucleotide variantPathogenicrs122453113GRCh37Chr X, 152960032: 152960032
2SLC6A8NM_005629.3(SLC6A8): c.1141G> C (p.Gly381Arg)single nucleotide variantPathogenicrs122453114GRCh37Chr X, 152959041: 152959041
3SLC6A8NM_005629.3(SLC6A8): c.1222_1224delTTC (p.Phe408del)deletionPathogenicrs80338740GRCh37Chr X, 152959440: 152959442
4SLC6A8NM_005629.3(SLC6A8): c.259G> A (p.Gly87Arg)single nucleotide variantPathogenicrs122453115GRCh37Chr X, 152954288: 152954288
5SLC6A8NM_005629.3(SLC6A8): c.1011C> G (p.Cys337Trp)single nucleotide variantPathogenicrs122453116GRCh37Chr X, 152958816: 152958816
6SLC6A8NM_005629.3(SLC6A8): c.395G> T (p.Gly132Val)single nucleotide variantPathogenicrs122453117GRCh37Chr X, 152956759: 152956759
7SLC6A8NM_005629.3(SLC6A8): c.1473C> G (p.Cys491Trp)single nucleotide variantPathogenicrs122453118GRCh37Chr X, 152959879: 152959879
8SLC6A8NM_005629.3(SLC6A8): c.1631C> T (p.Pro544Leu)single nucleotide variantPathogenicrs397515558GRCh37Chr X, 152960208: 152960208
9SLC6A8NM_005629.3(SLC6A8): c.1661C> T (p.Pro554Leu)single nucleotide variantPathogenicrs397515559GRCh37Chr X, 152960238: 152960238

Expression for genes affiliated with Slc6a8-Related Creatine Transporter Deficiency

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Search GEO for disease gene expression data for Slc6a8-Related Creatine Transporter Deficiency.

Pathways for genes affiliated with Slc6a8-Related Creatine Transporter Deficiency

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Compounds for genes affiliated with Slc6a8-Related Creatine Transporter Deficiency

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GO Terms for genes affiliated with Slc6a8-Related Creatine Transporter Deficiency

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Products for genes affiliated with Slc6a8-Related Creatine Transporter Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Slc6a8-Related Creatine Transporter Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet