MCID: CRT055
MIFTS: 28

Creatine Deficiency Syndromes malady

Summaries for Creatine Deficiency Syndromes

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19GeneReviews, 32MalaCards
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MalaCards: Creatine Deficiency Syndromes, also known as cerebral creatine deficiency syndromes, is related to agat deficiency and cerebral creatine deficiency syndrome. An important gene associated with Creatine Deficiency Syndromes is SLC6A8 (solute carrier family 6 (neurotransmitter transporter), member 8), and among its related pathways are Arginine and proline metabolism and Glycine, serine and threonine metabolism. The compounds ornithine and guanidinoacetate have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are adipose tissue and homeostasis/metabolism.

GeneReviews summary for creatine

Aliases & Classifications for Creatine Deficiency Syndromes

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19GeneReviews, 20GeneTests, 22GTR
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Aliases & Descriptions:

creatine deficiency syndromes 19 20 22
cerebral creatine deficiency syndromes 19


Related Diseases for Creatine Deficiency Syndromes

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17GeneCards, 18GeneDecks
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Diseases related to Creatine Deficiency Syndromes via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1agat deficiency30.6SLC6A8, GAMT, GATM
2cerebral creatine deficiency syndrome10.4
3creatine transporter deficiency10.4
4guanidinoacetate methyltransferase deficiency10.4
5cerebritis10.3
6x-linked creatine deficiency10.3
7myopathy10.0
8image syndrome10.0
9epilepsy syndrome10.0SLC6A8, GAMT
10intellectual disability10.0SLC6A8, GAMT
11mental retardation10.0GATM, GAMT, SLC6A8

Graphical network of diseases related to Creatine Deficiency Syndromes:



Diseases related to creatine deficiency syndromes

Clinical Features for Creatine Deficiency Syndromes

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Drugs & Therapeutics for Creatine Deficiency Syndromes

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Creatine Deficiency Syndromes

Drug clinical trials:

Search ClinicalTrials for Creatine Deficiency Syndromes

Search NIH Clinical Center for Creatine Deficiency Syndromes

Search CenterWatch for Creatine Deficiency Syndromes

Genetic Tests for Creatine Deficiency Syndromes

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20GeneTests, 22GTR
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Genetic tests related to Creatine Deficiency Syndromes:

id Genetic test Affiliating Genes
1 Creatine Deficiency Syndromes20 22 SLC6A8

Anatomical Context for Creatine Deficiency Syndromes

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32MalaCards
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MalaCards organs/tissues related to Creatine Deficiency Syndromes:

32
Brain

Animal Models for Creatine Deficiency Syndromes or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Creatine Deficiency Syndromes:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.5SLC6A8, GAMT, GATM
2MP:00053768.5SLC6A8, GAMT, GATM
3MP:00053868.4SLC6A8, GAMT, GATM
4MP:00053788.2GATM, GAMT, SLC6A8

Publications for Creatine Deficiency Syndromes

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50PubMed
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Articles related to Creatine Deficiency Syndromes:

(show all 29)
idTitleAuthorsYear
1
Creatine deficiency syndromes. (23622406)
2013
2
Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency. (23770102)
2013
3
Creatine and guanidinoacetate content of human milk and infant formulas: implications for creatine deficiency syndromes and amino acid metabolism. (23388580)
2013
4
Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. (23660394)
2013
5
Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome. (22644605)
2013
6
Is low serum creatine kinase a nonspecific screening marker for creatine deficiency syndromes? (22551696)
2012
7
A simple screening method using ion chromatography for the diagnosis of cerebral creatine deficiency syndromes. (22080216)
2012
8
Creatine deficiency syndromes: diagnostic pearls and pitfalls. (21856584)
2011
9
Defining the pathogenicity of creatine deficiency syndrome. (21140503)
2011
10
Creatine deficiency syndromes and the importance of creatine synthesis in the brain. (21390529)
2011
11
Creatine and creatine deficiency syndromes: biochemical and clinical aspects. (20159424)
2010
12
Dissociation of AGAT, GAMT and SLC6A8 in CNS: relevance to creatine deficiency syndromes. (19879361)
2010
13
AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review. (18392746)
2008
14
Treatment monitoring of brain creatine deficiency syndromes: a 1H- and 31P-MR spectroscopy study. (17353334)
2007
15
Quantification of creatine and guanidinoacetate using GC-MS and LC-MS/MS for the detection of cerebral creatine deficiency syndromes. (18428409)
2007
16
Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. (18652076)
2007
17
Molecularly imprinted solid-phase extraction combined with molecularly imprinted polymer-sensor: a diagnostic tool applicable to creatine deficiency syndrome. (17472218)
2007
18
High frequency of creatine deficiency syndromes in patients with unexplained mental retardation. (17101918)
2006
19
Diagnosis and treatment of brain creatine deficiency syndromes]. (16941429)
2006
20
Methods for the diagnosis of creatine deficiency syndromes: a comparative study. (16621013)
2006
21
Creatine deficiency syndromes]. (15800449)
2005
22
1H chemical shift imaging of the brain in guanidino methyltransferase deficiency, a creatine deficiency syndrome; guanidinoacetate accumulation in the gray matter. (15856249)
2005
23
Biochemical and clinical characteristics of creatine deficiency syndromes. (15625559)
2004
24
Creatine deficiency syndromes. (12701824)
2003
25
X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. (12210795)
2002
26
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. (11326334)
2001
27
Creatine deficiency syndromes: a new perspective on metabolic disorders and a diagnostic challenge. (9386648)
1997
28
Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. (9386672)
1997
29
Creatine Deficiency Syndromes (20301745)
1993

Genetic Variations for Creatine Deficiency Syndromes

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Expression for genes affiliated with Creatine Deficiency Syndromes

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Creatine Deficiency Syndromes

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Pathways for genes affiliated with Creatine Deficiency Syndromes

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Sources:
29KEGG, 37NCBI BioSystems Database, 53Reactome
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Pathways related to Creatine Deficiency Syndromes according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1GAMT, GATM
29.1GAMT, GATM
38.5GATM, GAMT, SLC6A8
4
Hide members
8.5SLC6A8, GAMT, GATM

Compounds for genes affiliated with Creatine Deficiency Syndromes

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Sources:
44Novoseek, 24HMDB, 11DrugBank
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Compounds related to Creatine Deficiency Syndromes according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ornithine44 2410.1GAMT, GATM
2guanidinoacetate448.6SLC6A8, GAMT, GATM
3Creatine11 249.5SLC6A8, GAMT, GATM
4creatinine448.4GATM, GAMT, SLC6A8
5arginine448.2SLC6A8, GAMT, GATM

GO Terms for genes affiliated with Creatine Deficiency Syndromes

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Sources:
16Gene Ontology
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Biological processes related to Creatine Deficiency Syndromes according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1creatine biosynthetic processGO:0066019.1GAMT, GATM
2muscle contractionGO:0069368.7SLC6A8, GAMT
3creatine metabolic processGO:0066008.6SLC6A8, GAMT, GATM
4small molecule metabolic processGO:0442818.5SLC6A8, GAMT, GATM
5cellular nitrogen compound metabolic processGO:0346418.4GATM, GAMT, SLC6A8

Products for genes affiliated with Creatine Deficiency Syndromes

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Sources for Creatine Deficiency Syndromes

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet