MCID: CRT055
MIFTS: 25

Creatine Deficiency Syndromes malady

Summaries for Creatine Deficiency Syndromes

Sources:
19GeneReviews, 33MalaCards
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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 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

Sources:
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

Sources:
17GeneCards, 18GeneDecks
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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 deficiency30.7GATM, SLC6A8, GAMT
2mental retardation30.0GAMT, GATM, SLC6A8
3creatine transporter deficiency10.4
4guanidinoacetate methyltransferase deficiency10.4
5x-linked creatine deficiency10.3
6n syndrome10.2
7char syndrome10.1
8epilepsy syndrome10.0GAMT, SLC6A8
9intellectual disability10.0GAMT, SLC6A8

Graphical network of diseases related to Creatine Deficiency Syndromes:



Diseases related to creatine deficiency syndromes

Clinical Features for Creatine Deficiency Syndromes

Drugs & Therapeutics for Creatine Deficiency Syndromes

Sources:
5CenterWatch, 42NIH 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

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Creatine Deficiency Syndromes:

33
Brain

Animal Models for Creatine Deficiency Syndromes or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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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

Sources:
51PubMed
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Articles related to Creatine Deficiency Syndromes:

(show all 21)
idTitleAuthorsYear
1
Creatine deficiency syndromes. (23622406)
2013
2
Creatine and guanidinoacetate content of human milk and infant formulas: implications for creatine deficiency syndromes and amino acid metabolism. (23388580)
2013
3
Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. (23660394)
2013
4
Is low serum creatine kinase a nonspecific screening marker for creatine deficiency syndromes? (22551696)
2012
5
A simple screening method using ion chromatography for the diagnosis of cerebral creatine deficiency syndromes. (22080216)
2012
6
Creatine deficiency syndromes: diagnostic pearls and pitfalls. (21856584)
2011
7
Creatine deficiency syndromes and the importance of creatine synthesis in the brain. (21390529)
2011
8
Creatine and creatine deficiency syndromes: biochemical and clinical aspects. (20159424)
2010
9
Dissociation of AGAT, GAMT and SLC6A8 in CNS: relevance to creatine deficiency syndromes. (19879361)
2010
10
AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review. (18392746)
2008
11
Treatment monitoring of brain creatine deficiency syndromes: a 1H- and 31P-MR spectroscopy study. (17353334)
2007
12
Quantification of creatine and guanidinoacetate using GC-MS and LC-MS/MS for the detection of cerebral creatine deficiency syndromes. (18428409)
2007
13
Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. (18652076)
2007
14
High frequency of creatine deficiency syndromes in patients with unexplained mental retardation. (17101918)
2006
15
Diagnosis and treatment of brain creatine deficiency syndromes]. (16941429)
2006
16
Methods for the diagnosis of creatine deficiency syndromes: a comparative study. (16621013)
2006
17
Creatine deficiency syndromes]. (15800449)
2005
18
Biochemical and clinical characteristics of creatine deficiency syndromes. (15625559)
2004
19
Creatine deficiency syndromes. (12701824)
2003
20
Creatine deficiency syndromes: a new perspective on metabolic disorders and a diagnostic challenge. (9386648)
1997
21
Creatine Deficiency Syndromes (20301745)
1993

Genetic Variations for Creatine Deficiency Syndromes

Expression for genes affiliated with Creatine Deficiency Syndromes

Sources:
1BioGPS, 15Gene 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

Sources:
30KEGG, 38NCBI BioSystems Database, 54Reactome
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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

Sources:
45Novoseek, 24HMDB, 11DrugBank
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Compounds related to Creatine Deficiency Syndromes according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ornithine45 2410.1GAMT, GATM
2guanidinoacetate458.6SLC6A8, GAMT, GATM
3Creatine11 249.5SLC6A8, GAMT, GATM
4creatinine458.4GATM, GAMT, SLC6A8
5arginine458.2SLC6A8, GAMT, GATM

GO Terms for genes affiliated with Creatine Deficiency Syndromes

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Creatine Deficiency Syndromes

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet