MCID: CRT055
MIFTS: 29

Creatine Deficiency Syndromes malady

Genetic diseases (common) category

Summaries for Creatine Deficiency Syndromes

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Sources:
20GeneReviews, 34MalaCards
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MalaCards: Creatine Deficiency Syndromes, also known as cerebral creatine deficiency syndromes, is related to agat deficiency and mental retardation. 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 Guanidoacetic acid and ornithine 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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Sources:
20GeneReviews, 21GeneTests, 23GTR
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Classifications:

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


Aliases & Descriptions:

creatine deficiency syndromes 20 21 23
cerebral creatine deficiency syndromes 20


Related Diseases for Creatine Deficiency Syndromes

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

idRelated DiseaseScoreTop Affiliating Genes
1agat deficiency30.5SLC6A8, GAMT, GATM
2mental retardation30.0GATM, GAMT, SLC6A8
3cerebral creatine deficiency syndrome10.5
4cerebritis10.4
5guanidinoacetate methyltransferase deficiency10.4
6x-linked creatine deficiency10.4
7creatine transporter deficiency10.3
8myopathy10.1
9epilepsy syndrome10.0SLC6A8, GAMT
10intellectual disability10.0SLC6A8, GAMT

Graphical network of diseases related to Creatine Deficiency Syndromes:



Diseases related to creatine deficiency syndromes

Symptoms for Creatine Deficiency Syndromes

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Drugs & Therapeutics for Creatine Deficiency Syndromes

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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Sources:
21GeneTests, 23GTR
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Genetic tests related to Creatine Deficiency Syndromes:

id Genetic test Affiliating Genes
1 Creatine Deficiency Syndromes21 23 SLC6A8

Anatomical Context for Creatine Deficiency Syndromes

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Sources:
34MalaCards
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MalaCards organs/tissues related to Creatine Deficiency Syndromes:

34
Brain

Animal Models for Creatine Deficiency Syndromes or affiliated genes

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Sources:
38MGI
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MGI Mouse Phenotypes related to Creatine Deficiency Syndromes:

38
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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Sources:
53PubMed
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Articles related to Creatine Deficiency Syndromes:

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

Variations for Creatine Deficiency Syndromes

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Expression for genes affiliated with Creatine Deficiency Syndromes

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

Search GEO for disease gene expression data for Creatine Deficiency Syndromes.

Pathways for genes affiliated with Creatine Deficiency Syndromes

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Sources:
51PathCards, 31KEGG, 56Reactome, 39NCBI BioSystems Database
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Pathways related to Creatine Deficiency Syndromes according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
citrulline-nitric oxide cycle39
arginine degradation I (arginase pathway)39
proline degradation39
glutamine degradation I39
proline biosynthesis I39
superpathway of citrulline metabolism39
proline biosynthesis II (from arginine)39
citrulline biosynthesis39
arginine degradation VI (arginase 2 pathway)39
Urea cycle and metabolism of amino groups39
asparagine biosynthesis I39
4-hydroxyproline degradation I39
citrulline degradation39
9.1GATM, GAMT
2
Show member pathways
choline degradation I39
glycine biosynthesis III39
serine and glycine biosynthesis39
glycine betaine degradation39
glycine biosynthesis39
9.1GAMT, GATM
3
Show member pathways
8.5SLC6A8, GAMT, GATM
4
Show member pathways
creatine-phosphate biosynthesis39
glycine degradation (creatine biosynthesis)39
putrescine biosynthesis III39
spermidine biosynthesis I39
tryptophan degradation via kynurenine39
spermine biosynthesis39
urea cycle39
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I39
tyrosine degradation I39
L-carnitine biosynthesis39
methylthiopropionate biosynthesis39
2-oxoglutarate decarboxylation to succinyl-CoA39
S-methyl-5-thioadenosine degradation II39
8.5SLC6A8, GAMT, GATM

Compounds for genes affiliated with Creatine Deficiency Syndromes

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Sources:
25HMDB, 46Novoseek, 12DrugBank
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Compounds related to Creatine Deficiency Syndromes according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Guanidoacetic acid259.1GAMT, GATM
2ornithine46 2510.1GAMT, GATM
3guanidinoacetate468.6SLC6A8, GAMT, GATM
4Creatine25 129.6SLC6A8, GAMT, GATM
5creatinine468.4GATM, GAMT, SLC6A8
6arginine468.2SLC6A8, GAMT, GATM

GO Terms for genes affiliated with Creatine Deficiency Syndromes

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Sources:
17Gene 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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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Creatine Deficiency Syndromes

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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