MCID: XLN018
MIFTS: 22

X-Linked Creatine Deficiency malady

Rare diseases, Neuronal diseases, Endocrine diseases, Mental diseases categories

Summaries for X-Linked Creatine Deficiency

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Sources:
22Genetics Home Reference, 34MalaCards
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Genetics Home Reference:22 X-linked creatine deficiency is an inherited disorder that primarily affects the brain. People with this disorder have intellectual disability, which can range from mild to severe, and delayed speech development. Some affected individuals develop behavioral disorders such as attention deficit hyperactivity disorder or autistic behaviors that affect communication and social interaction. They may also experience seizures. Children with X-linked creatine deficiency may experience slow growth and exhibit delayed development of motor skills such as sitting and walking. Affected individuals tend to tire easily.

MalaCards: X-Linked Creatine Deficiency, also known as x-linked creatine deficiency syndrome, is related to creatine transporter deficiency and cerebritis. An important gene associated with X-Linked Creatine Deficiency is SLC6A8 (solute carrier family 6 (neurotransmitter transporter), member 8). Affiliated tissues include thyroid.

Aliases & Classifications for X-Linked Creatine Deficiency

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22Genetics Home Reference, 63UMLS, 44NIH Rare Diseases, 23GTR
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Neuronal diseases, Endocrine diseases, Mental diseases


Aliases & Descriptions:

x-linked creatine deficiency 44 22
x-linked creatine deficiency syndrome 44 23 22
creatine deficiency, x-linked 44 63
mental retardation , x-linked with seizures, short stature and midface hypoplasia 44
mental retardation , x-linked, with creatine transport deficiency 44
thyroid hormone plasma membrane transport defect 63
slc6a8-related creatine transporter deficiency 22
x-linked creatine transporter deficiency 44
creatine transporter deficiency 22
creatine transporter defect 22
slc6a8 deficiency 22


Related Diseases for X-Linked Creatine Deficiency

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18GeneCards, 19GeneDecks
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Diseases related to X-Linked Creatine Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1creatine transporter deficiency10.7
2cerebritis10.3
3slc6a8-related creatine transporter deficiency10.3
4mental retardation10.3
5creatine deficiency syndromes10.2
6hyperhomocysteinemia10.2
7autism spectrum disorder10.2
8developmental disabilities10.2

Graphical network of diseases related to X-Linked Creatine Deficiency:



Diseases related to x-linked creatine deficiency

Symptoms for X-Linked Creatine Deficiency

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Drugs & Therapeutics for X-Linked Creatine Deficiency

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for X-Linked Creatine Deficiency

Search CenterWatch for X-Linked Creatine Deficiency

Genetic Tests for X-Linked Creatine Deficiency

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23GTR
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Genetic tests related to X-Linked Creatine Deficiency:

id Genetic test Affiliating Genes
1 Creatine Deficiency, X-Linked23

Anatomical Context for X-Linked Creatine Deficiency

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34MalaCards
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MalaCards organs/tissues related to X-Linked Creatine Deficiency:

34
Thyroid

Animal Models for X-Linked Creatine Deficiency or affiliated genes

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Publications for X-Linked Creatine Deficiency

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53PubMed
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Articles related to X-Linked Creatine Deficiency:

idTitleAuthorsYear
1
X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. (12210795)
2002

Variations for X-Linked Creatine Deficiency

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for X-Linked Creatine Deficiency:

1
id Gene Name 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 X-Linked Creatine Deficiency

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with X-Linked Creatine Deficiency

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Pathways for genes affiliated with X-Linked Creatine Deficiency

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Compounds for genes affiliated with X-Linked Creatine Deficiency

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GO Terms for genes affiliated with X-Linked Creatine Deficiency

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Products for genes affiliated with X-Linked Creatine Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for X-Linked Creatine Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet