MCID: CRT055
MIFTS: 29

Creatine Deficiency Syndromes malady

Genetic diseases (common) category

Summaries for Creatine Deficiency Syndromes

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MalaCards based summary: Creatine Deficiency Syndromes, also known as cerebral creatine deficiency syndromes, is related to cerebral creatine deficiency syndrome 3 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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Creatine Deficiency Syndromes, Aliases & Descriptions:

Name: Creatine Deficiency Syndromes 21 22 24
 
Cerebral Creatine Deficiency Syndromes 21


Classifications:

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


Related Diseases for Creatine Deficiency Syndromes

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

idRelated DiseaseScoreTop Affiliating Genes
1cerebral creatine deficiency syndrome 330.6SLC6A8, GAMT, GATM
2mental retardation30.0GATM, GAMT, SLC6A8
3cerebral creatine deficiency syndrome10.5
4cerebral creatine deficiency syndrome 110.5
5cerebritis10.5
6cerebral creatine deficiency syndrome 210.4
7creatine transporter deficiency10.1
8myopathy10.1
9epilepsy syndrome10.0SLC6A8, GAMT
10intellectual disability multi-gene panels10.0SLC6A8, 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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Drug clinical trials:

Search ClinicalTrials for Creatine Deficiency Syndromes

Search NIH Clinical Center for Creatine Deficiency Syndromes

Genetic Tests for Creatine Deficiency Syndromes

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Genetic tests related to Creatine Deficiency Syndromes:

id Genetic test Affiliating Genes
1 Creatine Deficiency Syndromes22 24 SLC6A8

Anatomical Context for Creatine Deficiency Syndromes

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MalaCards organs/tissues related to Creatine Deficiency Syndromes:

33
Brain

Animal Models for Creatine Deficiency Syndromes or affiliated genes

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MGI Mouse Phenotypes related to Creatine Deficiency Syndromes:

37
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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Articles related to Creatine Deficiency Syndromes:

(show all 30)
idTitleAuthorsYear
1
Continuous Age- and Sex-Adjusted Reference Intervals of Urinary Markers for Cerebral Creatine Deficiency Syndromes: A Novel Approach to the Definition of Reference Intervals. (25759465)
2015
2
Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes. (25521922)
2015
3
Creatine deficiency syndromes. (23622406)
2013
4
Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency. (23770102)
2013
5
Creatine and guanidinoacetate content of human milk and infant formulas: implications for creatine deficiency syndromes and amino acid metabolism. (23388580)
2013
6
Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. (23660394)
2013
7
Is low serum creatine kinase a nonspecific screening marker for creatine deficiency syndromes? (22551696)
2012
8
A simple screening method using ion chromatography for the diagnosis of cerebral creatine deficiency syndromes. (22080216)
2012
9
Creatine deficiency syndromes: diagnostic pearls and pitfalls. (21856584)
2011
10
Defining the pathogenicity of creatine deficiency syndrome. (21140503)
2011
11
Creatine deficiency syndromes and the importance of creatine synthesis in the brain. (21390529)
2011
12
Creatine and creatine deficiency syndromes: biochemical and clinical aspects. (20159424)
2010
13
Dissociation of AGAT, GAMT and SLC6A8 in CNS: relevance to creatine deficiency syndromes. (19879361)
2010
14
AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review. (18392746)
2008
15
Treatment monitoring of brain creatine deficiency syndromes: a 1H- and 31P-MR spectroscopy study. (17353334)
2007
16
Quantification of creatine and guanidinoacetate using GC-MS and LC-MS/MS for the detection of cerebral creatine deficiency syndromes. (18428409)
2007
17
Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. (18652076)
2007
18
Molecularly imprinted solid-phase extraction combined with molecularly imprinted polymer-sensor: a diagnostic tool applicable to creatine deficiency syndrome. (17472218)
2007
19
High frequency of creatine deficiency syndromes in patients with unexplained mental retardation. (17101918)
2006
20
Diagnosis and treatment of brain creatine deficiency syndromes]. (16941429)
2006
21
Methods for the diagnosis of creatine deficiency syndromes: a comparative study. (16621013)
2006
22
Creatine deficiency syndromes]. (15800449)
2005
23
1H chemical shift imaging of the brain in guanidino methyltransferase deficiency, a creatine deficiency syndrome; guanidinoacetate accumulation in the gray matter. (15856249)
2005
24
Biochemical and clinical characteristics of creatine deficiency syndromes. (15625559)
2004
25
Creatine deficiency syndromes. (12701824)
2003
26
X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. (12210795)
2002
27
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. (11326334)
2001
28
Creatine deficiency syndromes: a new perspective on metabolic disorders and a diagnostic challenge. (9386648)
1997
29
Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. (9386672)
1997
30
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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Search GEO for disease gene expression data for Creatine Deficiency Syndromes.

Pathways for genes affiliated with Creatine Deficiency Syndromes

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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 cycle38
arginine degradation I (arginase pathway)38
proline degradation38
glutamine degradation I38
proline biosynthesis I38
superpathway of citrulline metabolism38
proline biosynthesis II (from arginine)38
citrulline biosynthesis38
arginine degradation VI (arginase 2 pathway)38
Urea cycle and metabolism of amino groups38
asparagine biosynthesis I38
4-hydroxyproline degradation I38
citrulline degradation38
9.1GATM, GAMT
2
Show member pathways
choline degradation I38
glycine biosynthesis III38
serine and glycine biosynthesis38
glycine betaine degradation38
glycine biosynthesis38
9.1GAMT, GATM
3
Show member pathways
8.5SLC6A8, GAMT, GATM
4
Show member pathways
creatine-phosphate biosynthesis38
glycine degradation (creatine biosynthesis)38
putrescine biosynthesis III38
spermidine biosynthesis I38
tryptophan degradation via kynurenine38
spermine biosynthesis38
urea cycle38
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I38
tyrosine degradation I38
L-carnitine biosynthesis38
methylthiopropionate biosynthesis38
2-oxoglutarate decarboxylation to succinyl-CoA38
S-methyl-5-thioadenosine degradation II38
8.5SLC6A8, GAMT, GATM

Compounds for genes affiliated with Creatine Deficiency Syndromes

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Sources:
26HMDB, 45Novoseek, 13DrugBank
See all sources

Compounds related to Creatine Deficiency Syndromes according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Guanidoacetic acid269.1GAMT, GATM
2ornithine45 2610.1GAMT, GATM
3guanidinoacetate458.6SLC6A8, GAMT, GATM
4Creatine26 139.6SLC6A8, GAMT, GATM
5creatinine458.4GATM, GAMT, SLC6A8
6arginine458.2SLC6A8, GAMT, GATM

GO Terms for genes affiliated with Creatine Deficiency Syndromes

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Biological processes related to Creatine Deficiency Syndromes according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1creatine biosynthetic processGO:00066019.1GAMT, GATM
2muscle contractionGO:00069368.7SLC6A8, GAMT
3creatine metabolic processGO:00066008.6SLC6A8, GAMT, GATM
4small molecule metabolic processGO:00442818.5SLC6A8, GAMT, GATM
5cellular nitrogen compound metabolic processGO:00346418.4GATM, GAMT, SLC6A8

Products for genes affiliated with Creatine Deficiency Syndromes

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  • Antibodies
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  • Kits and Assays

Sources for Creatine Deficiency Syndromes

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet