MCID: CRB137
MIFTS: 20

Cerebral Creatine Deficiency Syndrome

Categories: Metabolic diseases

Aliases & Classifications for Cerebral Creatine Deficiency Syndrome

MalaCards integrated aliases for Cerebral Creatine Deficiency Syndrome:

Name: Cerebral Creatine Deficiency Syndrome 12 29 6 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050798

Summaries for Cerebral Creatine Deficiency Syndrome

MalaCards based summary : Cerebral Creatine Deficiency Syndrome is related to cerebral creatine deficiency syndrome 1 and creatine deficiency syndromes. An important gene associated with Cerebral Creatine Deficiency Syndrome is GAMT (Guanidinoacetate N-Methyltransferase), and among its related pathways/superpathways are Glucose / Energy Metabolism and Amino Acid metabolism. Related phenotypes are behavior/neurological and mortality/aging

Related Diseases for Cerebral Creatine Deficiency Syndrome

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

# Related Disease Score Top Affiliating Genes
1 cerebral creatine deficiency syndrome 1 32.3 BCAP31 FABP3 GAMT GATM SLC6A8
2 creatine deficiency syndromes 32.1 GAMT GATM SLC6A8
3 cerebral creatine deficiency syndrome 3 30.1 DDX21 GAMT GATM HAPLN1 HTN3 OAT
4 cerebral creatine deficiency syndrome 2 28.0 ARG1 CS DDX21 GAMT GATM HAPLN1
5 cerebritis 10.2
6 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 10.1 OAT SLC6A8
7 amino acid metabolic disorder 9.9 GAMT SLC6A8
8 aging 9.8

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



Diseases related to Cerebral Creatine Deficiency Syndrome

Symptoms & Phenotypes for Cerebral Creatine Deficiency Syndrome

MGI Mouse Phenotypes related to Cerebral Creatine Deficiency Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.5 FABP3 GAMT GATM HAPLN1 OAT SLC6A6
2 mortality/aging MP:0010768 9.23 ARG1 CS DDX21 FABP3 GAMT GATM

Drugs & Therapeutics for Cerebral Creatine Deficiency Syndrome

Search Clinical Trials , NIH Clinical Center for Cerebral Creatine Deficiency Syndrome

Genetic Tests for Cerebral Creatine Deficiency Syndrome

Genetic tests related to Cerebral Creatine Deficiency Syndrome:

# Genetic test Affiliating Genes
1 Cerebral Creatine Deficiency Syndrome 29

Anatomical Context for Cerebral Creatine Deficiency Syndrome

Publications for Cerebral Creatine Deficiency Syndrome

Articles related to Cerebral Creatine Deficiency Syndrome:

# 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
Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes. ( 25521922 )
2015
3
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
4
Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. ( 23660394 )
2013
5
A simple screening method using ion chromatography for the diagnosis of cerebral creatine deficiency syndromes. ( 22080216 )
2012
6
Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. ( 18652076 )
2007
7
Quantification of creatine and guanidinoacetate using GC-MS and LC-MS/MS for the detection of cerebral creatine deficiency syndromes. ( 18428409 )
2007

Variations for Cerebral Creatine Deficiency Syndrome

ClinVar genetic disease variations for Cerebral Creatine Deficiency Syndrome:

6
(show top 50) (show all 86)
# 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.299_311dupGGGACTGGGCCCC (p.Arg105Glyfs) duplication Pathogenic rs80338736 GRCh38 Chromosome 19, 1399811: 1399823
3 GAMT NM_000156.5(GAMT): c.327G> A (p.Lys109=) single nucleotide variant Pathogenic rs80338735 GRCh37 Chromosome 19, 1399792: 1399792
4 GAMT NM_000156.5(GAMT): c.327G> A (p.Lys109=) single nucleotide variant Pathogenic rs80338735 GRCh38 Chromosome 19, 1399793: 1399793
5 GAMT NM_000156.5(GAMT): c.79T> C (p.Tyr27His) single nucleotide variant Conflicting interpretations of pathogenicity rs200833152 GRCh37 Chromosome 19, 1401397: 1401397
6 GAMT NM_000156.5(GAMT): c.79T> C (p.Tyr27His) single nucleotide variant Conflicting interpretations of pathogenicity rs200833152 GRCh38 Chromosome 19, 1401398: 1401398
7 GAMT NM_000156.5(GAMT): c.227C> T (p.Ser76Leu) single nucleotide variant Uncertain significance rs150338273 GRCh37 Chromosome 19, 1399892: 1399892
8 GAMT NM_000156.5(GAMT): c.227C> T (p.Ser76Leu) single nucleotide variant Uncertain significance rs150338273 GRCh38 Chromosome 19, 1399893: 1399893
9 GAMT NM_000156.5(GAMT): c.707G> C (p.Gly236Ala) single nucleotide variant Uncertain significance rs201029006 GRCh38 Chromosome 19, 1397363: 1397363
10 GAMT NM_000156.5(GAMT): c.707G> C (p.Gly236Ala) single nucleotide variant Uncertain significance rs201029006 GRCh37 Chromosome 19, 1397362: 1397362
11 GAMT NM_000156.5(GAMT): c.670G> A (p.Ala224Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs141471799 GRCh38 Chromosome 19, 1397400: 1397400
12 GAMT NM_000156.5(GAMT): c.670G> A (p.Ala224Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs141471799 GRCh37 Chromosome 19, 1397399: 1397399
13 GAMT NM_000156.5(GAMT): c.655G> A (p.Asp219Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs753228876 GRCh37 Chromosome 19, 1397414: 1397414
14 GAMT NM_000156.5(GAMT): c.655G> A (p.Asp219Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs753228876 GRCh38 Chromosome 19, 1397415: 1397415
15 GAMT NM_000156.5(GAMT): c.650C> T (p.Pro217Leu) single nucleotide variant Uncertain significance rs139890971 GRCh38 Chromosome 19, 1397420: 1397420
16 GAMT NM_000156.5(GAMT): c.650C> T (p.Pro217Leu) single nucleotide variant Uncertain significance rs139890971 GRCh37 Chromosome 19, 1397419: 1397419
17 GAMT NM_000156.5(GAMT): c.600C> T (p.Ala200=) single nucleotide variant Benign/Likely benign rs200679529 GRCh38 Chromosome 19, 1397470: 1397470
18 GAMT NM_000156.5(GAMT): c.600C> T (p.Ala200=) single nucleotide variant Benign/Likely benign rs200679529 GRCh37 Chromosome 19, 1397469: 1397469
19 GAMT NM_000156.5(GAMT): c.581T> C (p.Val194Ala) single nucleotide variant Likely benign rs147739199 GRCh38 Chromosome 19, 1397489: 1397489
20 GAMT NM_000156.5(GAMT): c.581T> C (p.Val194Ala) single nucleotide variant Likely benign rs147739199 GRCh37 Chromosome 19, 1397488: 1397488
21 GAMT NM_000156.5(GAMT): c.522G> A (p.Trp174Ter) single nucleotide variant Pathogenic rs370421531 GRCh37 Chromosome 19, 1398963: 1398963
22 GAMT NM_000156.5(GAMT): c.522G> A (p.Trp174Ter) single nucleotide variant Pathogenic rs370421531 GRCh38 Chromosome 19, 1398964: 1398964
23 GAMT NM_000156.5(GAMT): c.7G> A (p.Ala3Thr) single nucleotide variant Uncertain significance rs574164748 GRCh37 Chromosome 19, 1401469: 1401469
24 GAMT NM_000156.5(GAMT): c.7G> A (p.Ala3Thr) single nucleotide variant Uncertain significance rs574164748 GRCh38 Chromosome 19, 1401470: 1401470
25 GAMT NM_000156.5(GAMT): c.211A> G (p.Met71Val) single nucleotide variant Uncertain significance rs372027428 GRCh37 Chromosome 19, 1399908: 1399908
26 GAMT NM_000156.5(GAMT): c.211A> G (p.Met71Val) single nucleotide variant Uncertain significance rs372027428 GRCh38 Chromosome 19, 1399909: 1399909
27 GAMT NM_000156.5(GAMT): c.189G> C (p.Arg63=) single nucleotide variant Conflicting interpretations of pathogenicity rs568392459 GRCh37 Chromosome 19, 1399930: 1399930
28 GAMT NM_000156.5(GAMT): c.189G> C (p.Arg63=) single nucleotide variant Conflicting interpretations of pathogenicity rs568392459 GRCh38 Chromosome 19, 1399931: 1399931
29 GAMT NM_000156.5(GAMT): c.182G> A (p.Gly61Glu) single nucleotide variant Uncertain significance rs77168423 GRCh37 Chromosome 19, 1399937: 1399937
30 GAMT NM_000156.5(GAMT): c.182G> A (p.Gly61Glu) single nucleotide variant Uncertain significance rs77168423 GRCh38 Chromosome 19, 1399938: 1399938
31 GAMT NM_000156.5(GAMT): c.396C> A (p.Ile132=) single nucleotide variant Conflicting interpretations of pathogenicity rs200500835 GRCh37 Chromosome 19, 1399190: 1399190
32 GAMT NM_000156.5(GAMT): c.396C> A (p.Ile132=) single nucleotide variant Conflicting interpretations of pathogenicity rs200500835 GRCh38 Chromosome 19, 1399191: 1399191
33 GAMT NM_000156.5(GAMT): c.328-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs371511930 GRCh37 Chromosome 19, 1399596: 1399596
34 GAMT NM_000156.5(GAMT): c.328-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs371511930 GRCh38 Chromosome 19, 1399597: 1399597
35 GAMT NM_000156.5(GAMT): c.153C> T (p.His51=) single nucleotide variant Likely benign rs760366501 GRCh37 Chromosome 19, 1401323: 1401323
36 GAMT NM_000156.5(GAMT): c.153C> T (p.His51=) single nucleotide variant Likely benign rs760366501 GRCh38 Chromosome 19, 1401324: 1401324
37 GAMT NM_000156.5(GAMT): c.270G> A (p.Glu90=) single nucleotide variant Likely benign rs138754049 GRCh37 Chromosome 19, 1399849: 1399849
38 GAMT NM_000156.5(GAMT): c.270G> A (p.Glu90=) single nucleotide variant Likely benign rs138754049 GRCh38 Chromosome 19, 1399850: 1399850
39 GAMT NM_000156.5(GAMT): c.314G> A (p.Arg105Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148838075 GRCh37 Chromosome 19, 1399805: 1399805
40 GAMT NM_000156.5(GAMT): c.314G> A (p.Arg105Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148838075 GRCh38 Chromosome 19, 1399806: 1399806
41 GAMT NM_000156.5(GAMT): c.669C> T (p.Tyr223=) single nucleotide variant Likely benign rs762954251 GRCh38 Chromosome 19, 1397401: 1397401
42 GAMT NM_000156.5(GAMT): c.669C> T (p.Tyr223=) single nucleotide variant Likely benign rs762954251 GRCh37 Chromosome 19, 1397400: 1397400
43 GAMT NM_000156.5(GAMT): c.441C> A (p.His147Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 1399146: 1399146
44 GAMT NM_000156.5(GAMT): c.441C> A (p.His147Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 1399145: 1399145
45 GAMT NM_000156.5(GAMT): c.473G> A (p.Arg158His) single nucleotide variant Uncertain significance rs750195151 GRCh37 Chromosome 19, 1399012: 1399012
46 GAMT NM_000156.5(GAMT): c.473G> A (p.Arg158His) single nucleotide variant Uncertain significance rs750195151 GRCh38 Chromosome 19, 1399013: 1399013
47 GAMT NM_000156.5(GAMT): c.639G> A (p.Ala213=) single nucleotide variant Likely benign rs373479245 GRCh38 Chromosome 19, 1397431: 1397431
48 GAMT NM_000156.5(GAMT): c.639G> A (p.Ala213=) single nucleotide variant Likely benign rs373479245 GRCh37 Chromosome 19, 1397430: 1397430
49 GAMT NM_000156.5(GAMT): c.571-7C> T single nucleotide variant Likely benign rs767793408 GRCh38 Chromosome 19, 1397506: 1397506
50 GAMT NM_000156.5(GAMT): c.571-7C> T single nucleotide variant Likely benign rs767793408 GRCh37 Chromosome 19, 1397505: 1397505

Expression for Cerebral Creatine Deficiency Syndrome

Search GEO for disease gene expression data for Cerebral Creatine Deficiency Syndrome.

Pathways for Cerebral Creatine Deficiency Syndrome

Pathways related to Cerebral Creatine Deficiency Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.99 ARG1 CS FABP3
2 11.29 ARG1 CS OAT
3
Show member pathways
11.01 ARG1 GAMT GATM OAT
4
Show member pathways
10.97 GAMT GATM
5
Show member pathways
10.3 ARG1 GAMT GATM OAT

GO Terms for Cerebral Creatine Deficiency Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 neurotransmitter transport GO:0006836 9.16 SLC6A6 SLC6A8
2 creatine biosynthetic process GO:0006601 8.96 GAMT GATM
3 creatine metabolic process GO:0006600 8.8 GAMT GATM SLC6A8

Molecular functions related to Cerebral Creatine Deficiency Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neurotransmitter:sodium symporter activity GO:0005328 8.62 SLC6A6 SLC6A8

Sources for Cerebral Creatine Deficiency Syndrome

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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