Aliases & Classifications for Creatine Deficiency Syndromes

MalaCards integrated aliases for Creatine Deficiency Syndromes:

Name: Creatine Deficiency Syndromes 23
Cerebral Creatine Deficiency Syndromes 23
Creatine Deficiency Syndrome 36

External Ids:

KEGG 36 H00849

Summaries for Creatine Deficiency Syndromes

MalaCards based summary : Creatine Deficiency Syndromes, also known as cerebral creatine deficiency syndromes, is related to cerebral creatine deficiency syndrome 3 and cerebral creatine deficiency syndrome 2. An important gene associated with Creatine Deficiency Syndromes is GAMT (Guanidinoacetate N-Methyltransferase), and among its related pathways/superpathways are Glycine, serine and threonine metabolism and Arginine and proline metabolism. The drug Creatine has been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 72 Creatine (/ˈkriːətiːn/ or /ˈkriːətɪn/) is a nitrogenous organic acid that occurs naturally in... more...

GeneReviews: NBK3794

Related Diseases for Creatine Deficiency Syndromes

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

# Related Disease Score Top Affiliating Genes
1 cerebral creatine deficiency syndrome 3 32.5 GAMT GATM SLC6A8
2 cerebral creatine deficiency syndrome 2 32.3 GAMT GATM SLC6A8
3 cerebral creatine deficiency syndrome 1 32.3 GAMT GATM SLC6A8
4 cerebral creatine deficiency syndrome 31.9 GAMT GATM SLC6A8
5 l-arginine:glycine amidinotransferase deficiency 11.0
6 cerebritis 10.1
7 autism 9.7
8 aging 9.7
9 myopathy 9.7
10 amino acid metabolic disorder 9.3 GAMT SLC6A8

Graphical network of the top 20 diseases related to Creatine Deficiency Syndromes:



Diseases related to Creatine Deficiency Syndromes

Symptoms & Phenotypes for Creatine Deficiency Syndromes

GenomeRNAi Phenotypes related to Creatine Deficiency Syndromes according to GeneCards Suite gene sharing:

25 (show all 37)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-103 10.05 GATM
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.05 SLC6A8
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.05 SLC6A8
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.05 SLC6A8
5 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.05 GAMT GATM
6 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.05 GATM
7 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.05 GATM
8 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.05 SLC6A8
9 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.05 SLC6A8
10 Increased shRNA abundance (Z-score > 2) GR00366-A-143 10.05 GAMT
11 Increased shRNA abundance (Z-score > 2) GR00366-A-158 10.05 GATM
12 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.05 GATM
13 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.05 GAMT
14 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.05 GAMT
15 Increased shRNA abundance (Z-score > 2) GR00366-A-22 10.05 GATM
16 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.05 SLC6A8
17 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.05 GAMT
18 Increased shRNA abundance (Z-score > 2) GR00366-A-67 10.05 SLC6A8 GAMT
19 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.05 GATM
20 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.05 SLC6A8
21 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.05 GATM
22 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.05 GAMT
23 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.05 GAMT
24 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.05 SLC6A8 GAMT
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.77 GAMT
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.77 GAMT
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 9.77 SLC6A8
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.77 GAMT
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 9.77 GAMT
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.77 GAMT
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.77 GAMT
32 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.77 GAMT
33 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.77 SLC6A8 GAMT
34 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.77 GAMT
35 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.77 GAMT
36 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.77 SLC6A8
37 Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection GR00233-A-1 9.16 SLC6A8 GATM

MGI Mouse Phenotypes related to Creatine Deficiency Syndromes:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.8 GAMT GATM SLC6A8

Drugs & Therapeutics for Creatine Deficiency Syndromes

Drugs for Creatine Deficiency Syndromes (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Creatine Approved, Investigational, Nutraceutical 57-00-1 586

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Biomarker for Creatine Deficiency Syndromes Recruiting NCT02934854

Search NIH Clinical Center for Creatine Deficiency Syndromes

Genetic Tests for Creatine Deficiency Syndromes

Anatomical Context for Creatine Deficiency Syndromes

MalaCards organs/tissues related to Creatine Deficiency Syndromes:

38
Brain

Publications for Creatine Deficiency Syndromes

Articles related to Creatine Deficiency Syndromes:

(show all 33)
# Title Authors Year
1
Abnormal N-Glycosylation of a Novel Missense Creatine Transporter Mutant, G561R, Associated with Cerebral Creatine Deficiency Syndromes Alters Transporter Activity and Localization. ( 28049948 )
2017
2
Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics. ( 28055022 )
2017
3
Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism. ( 26684475 )
2016
4
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
5
Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes. ( 25521922 )
2015
6
Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency. ( 23770102 )
2013
7
Creatine deficiency syndromes. ( 23622406 )
2013
8
Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. ( 23660394 )
2013
9
Creatine and guanidinoacetate content of human milk and infant formulas: implications for creatine deficiency syndromes and amino acid metabolism. ( 23388580 )
2013
10
A simple screening method using ion chromatography for the diagnosis of cerebral creatine deficiency syndromes. ( 22080216 )
2012
11
Is low serum creatine kinase a nonspecific screening marker for creatine deficiency syndromes? ( 22551696 )
2012
12
Creatine deficiency syndromes and the importance of creatine synthesis in the brain. ( 21390529 )
2011
13
Creatine deficiency syndromes: diagnostic pearls and pitfalls. ( 21856584 )
2011
14
Defining the pathogenicity of creatine deficiency syndrome. ( 21140503 )
2011
15
Dissociation of AGAT, GAMT and SLC6A8 in CNS: relevance to creatine deficiency syndromes. ( 19879361 )
2010
16
Creatine and creatine deficiency syndromes: biochemical and clinical aspects. ( 20159424 )
2010
17
AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review. ( 18392746 )
2008
18
Quantification of creatine and guanidinoacetate using GC-MS and LC-MS/MS for the detection of cerebral creatine deficiency syndromes. ( 18428409 )
2007
19
Treatment monitoring of brain creatine deficiency syndromes: a 1H- and 31P-MR spectroscopy study. ( 17353334 )
2007
20
Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. ( 18652076 )
2007
21
Molecularly imprinted solid-phase extraction combined with molecularly imprinted polymer-sensor: a diagnostic tool applicable to creatine deficiency syndrome. ( 17472218 )
2007
22
Methods for the diagnosis of creatine deficiency syndromes: a comparative study. ( 16621013 )
2006
23
[Diagnosis and treatment of brain creatine deficiency syndromes]. ( 16941429 )
2006
24
High frequency of creatine deficiency syndromes in patients with unexplained mental retardation. ( 17101918 )
2006
25
1H chemical shift imaging of the brain in guanidino methyltransferase deficiency, a creatine deficiency syndrome; guanidinoacetate accumulation in the gray matter. ( 15856249 )
2005
26
[Creatine deficiency syndromes]. ( 15800449 )
2005
27
Biochemical and clinical characteristics of creatine deficiency syndromes. ( 15625559 )
2004
28
Creatine deficiency syndromes. ( 12701824 )
2003
29
X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. ( 12210795 )
2002
30
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. ( 11326334 )
2001
31
Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. ( 9386672 )
1997
32
Creatine deficiency syndromes: a new perspective on metabolic disorders and a diagnostic challenge. ( 9386648 )
1997
33
Creatine Deficiency Syndromes ( 20301745 )
1993

Variations for Creatine Deficiency Syndromes

ClinVar genetic disease variations for Creatine Deficiency Syndromes:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GAMT NM_000156.5(GAMT): c.299_311dupGGGACTGGGCCCC (p.Arg105Glyfs) duplication Pathogenic rs80338736 GRCh37 Chromosome 19, 1399810: 1399822
2 GAMT NM_000156.5(GAMT): c.522G> A (p.Trp174Ter) single nucleotide variant Pathogenic rs370421531 GRCh38 Chromosome 19, 1398964: 1398964

Expression for Creatine Deficiency Syndromes

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

Pathways for Creatine Deficiency Syndromes

Pathways related to Creatine Deficiency Syndromes according to KEGG:

36
# Name Kegg Source Accession
1 Glycine, serine and threonine metabolism hsa00260
2 Arginine and proline metabolism hsa00330

Pathways related to Creatine Deficiency Syndromes according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.84 GAMT GATM SLC6A8
2
Show member pathways
10.91 GAMT GATM
3
Show member pathways
10.67 GAMT GATM
4
Show member pathways
10 GAMT GATM

GO Terms for Creatine Deficiency Syndromes

Biological processes related to Creatine Deficiency Syndromes according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.16 GAMT SLC6A8
2 creatine biosynthetic process GO:0006601 8.96 GAMT GATM
3 creatine metabolic process GO:0006600 8.8 GAMT GATM SLC6A8

Sources for Creatine Deficiency Syndromes

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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