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 38 30 6 15

Classifications:



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Disease Ontology 12 DOID:0050798
KEGG 38 H00849

Summaries for Cerebral Creatine Deficiency Syndrome

Disease Ontology : 12 An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has material basis in mutation in the creatine transporter gene on chromosome Xq28.

MalaCards based summary : Cerebral Creatine Deficiency Syndrome is related to cerebral creatine deficiency syndrome 1 and cerebral creatine deficiency syndrome 3. An important gene associated with Cerebral Creatine Deficiency Syndrome is GAMT (Guanidinoacetate N-Methyltransferase), and among its related pathways/superpathways are Glycine, serine and threonine metabolism and Arginine and proline 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 33.5 BCAP31 FABP3 GAMT GATM SLC6A8
2 cerebral creatine deficiency syndrome 3 32.8 DDX21 GAMT GATM HAPLN1 HTN3 OAT
3 creatine deficiency syndromes 32.5 GAMT GATM SLC6A8
4 cerebral creatine deficiency syndrome 2 31.5 ARG1 CS DDX21 GAMT GATM HAPLN1
5 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 10.1 OAT SLC6A8
6 amino acid metabolic disorder 10.0 GAMT SLC6A8

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.61 CANX FABP3 GAMT GATM HAPLN1 OAT
2 mortality/aging MP:0010768 9.32 ARG1 CANX CS DDX21 FABP3 GAMT

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 30

Anatomical Context for Cerebral Creatine Deficiency Syndrome

Publications for Cerebral Creatine Deficiency Syndrome

Articles related to Cerebral Creatine Deficiency Syndrome:

# Title Authors Year
1
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. ( 23519317 )
2013

Variations for Cerebral Creatine Deficiency Syndrome

ClinVar genetic disease variations for Cerebral Creatine Deficiency Syndrome:

6 (show top 50) (show all 124)
# Gene Variation Type Significance SNP ID Assembly Location
1 GAMT NM_000156.5(GAMT): c.297_309dup (p.Arg105Glyfs) duplication Pathogenic rs80338736 GRCh37 Chromosome 19, 1399810: 1399822
2 GAMT NM_000156.5(GAMT): c.297_309dup (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.279C> T (p.Asp93=) single nucleotide variant Benign/Likely benign rs144630886 GRCh38 Chromosome 19, 1399841: 1399841
6 GAMT NM_000156.5(GAMT): c.279C> T (p.Asp93=) single nucleotide variant Benign/Likely benign rs144630886 GRCh37 Chromosome 19, 1399840: 1399840
7 GAMT NM_000156.5(GAMT): c.348G> A (p.Leu116=) single nucleotide variant Benign/Likely benign rs117884619 GRCh38 Chromosome 19, 1399567: 1399567
8 GAMT NM_000156.5(GAMT): c.348G> A (p.Leu116=) single nucleotide variant Benign/Likely benign rs117884619 GRCh37 Chromosome 19, 1399566: 1399566
9 GAMT NM_000156.5(GAMT): c.392-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs192416474 GRCh38 Chromosome 19, 1399202: 1399202
10 GAMT NM_000156.5(GAMT): c.392-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs192416474 GRCh37 Chromosome 19, 1399201: 1399201
11 GAMT NM_000156.5(GAMT): c.79T> C (p.Tyr27His) single nucleotide variant Conflicting interpretations of pathogenicity rs200833152 GRCh37 Chromosome 19, 1401397: 1401397
12 GAMT NM_000156.5(GAMT): c.79T> C (p.Tyr27His) single nucleotide variant Conflicting interpretations of pathogenicity rs200833152 GRCh38 Chromosome 19, 1401398: 1401398
13 GAMT NM_000156.5(GAMT): c.227C> T (p.Ser76Leu) single nucleotide variant Uncertain significance rs150338273 GRCh37 Chromosome 19, 1399892: 1399892
14 GAMT NM_000156.5(GAMT): c.227C> T (p.Ser76Leu) single nucleotide variant Uncertain significance rs150338273 GRCh38 Chromosome 19, 1399893: 1399893
15 GAMT NM_000156.5(GAMT): c.707G> C (p.Gly236Ala) single nucleotide variant Uncertain significance rs201029006 GRCh38 Chromosome 19, 1397363: 1397363
16 GAMT NM_000156.5(GAMT): c.707G> C (p.Gly236Ala) single nucleotide variant Uncertain significance rs201029006 GRCh37 Chromosome 19, 1397362: 1397362
17 GAMT NM_000156.5(GAMT): c.670G> A (p.Ala224Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs141471799 GRCh38 Chromosome 19, 1397400: 1397400
18 GAMT NM_000156.5(GAMT): c.670G> A (p.Ala224Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs141471799 GRCh37 Chromosome 19, 1397399: 1397399
19 GAMT NM_000156.5(GAMT): c.655G> A (p.Asp219Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs753228876 GRCh37 Chromosome 19, 1397414: 1397414
20 GAMT NM_000156.5(GAMT): c.655G> A (p.Asp219Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs753228876 GRCh38 Chromosome 19, 1397415: 1397415
21 GAMT NM_000156.5(GAMT): c.650C> T (p.Pro217Leu) single nucleotide variant Uncertain significance rs139890971 GRCh38 Chromosome 19, 1397420: 1397420
22 GAMT NM_000156.5(GAMT): c.650C> T (p.Pro217Leu) single nucleotide variant Uncertain significance rs139890971 GRCh37 Chromosome 19, 1397419: 1397419
23 GAMT NM_000156.5(GAMT): c.601G> A (p.Gly201Ser) single nucleotide variant Uncertain significance rs540554423 GRCh38 Chromosome 19, 1397469: 1397469
24 GAMT NM_000156.5(GAMT): c.601G> A (p.Gly201Ser) single nucleotide variant Uncertain significance rs540554423 GRCh37 Chromosome 19, 1397468: 1397468
25 GAMT NM_000156.5(GAMT): c.600C> T (p.Ala200=) single nucleotide variant Benign/Likely benign rs200679529 GRCh38 Chromosome 19, 1397470: 1397470
26 GAMT NM_000156.5(GAMT): c.600C> T (p.Ala200=) single nucleotide variant Benign/Likely benign rs200679529 GRCh37 Chromosome 19, 1397469: 1397469
27 GAMT NM_000156.5(GAMT): c.581T> C (p.Val194Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs147739199 GRCh38 Chromosome 19, 1397489: 1397489
28 GAMT NM_000156.5(GAMT): c.581T> C (p.Val194Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs147739199 GRCh37 Chromosome 19, 1397488: 1397488
29 GAMT NM_000156.5(GAMT): c.522G> A (p.Trp174Ter) single nucleotide variant Pathogenic rs370421531 GRCh37 Chromosome 19, 1398963: 1398963
30 GAMT NM_000156.5(GAMT): c.522G> A (p.Trp174Ter) single nucleotide variant Pathogenic rs370421531 GRCh38 Chromosome 19, 1398964: 1398964
31 GAMT NM_000156.5(GAMT): c.7G> A (p.Ala3Thr) single nucleotide variant Uncertain significance rs574164748 GRCh37 Chromosome 19, 1401469: 1401469
32 GAMT NM_000156.5(GAMT): c.7G> A (p.Ala3Thr) single nucleotide variant Uncertain significance rs574164748 GRCh38 Chromosome 19, 1401470: 1401470
33 GAMT NM_000156.5(GAMT): c.211A> G (p.Met71Val) single nucleotide variant Uncertain significance rs372027428 GRCh37 Chromosome 19, 1399908: 1399908
34 GAMT NM_000156.5(GAMT): c.211A> G (p.Met71Val) single nucleotide variant Uncertain significance rs372027428 GRCh38 Chromosome 19, 1399909: 1399909
35 GAMT NM_000156.5(GAMT): c.367A> G (p.Thr123Ala) single nucleotide variant Uncertain significance rs771827261 GRCh37 Chromosome 19, 1399547: 1399547
36 GAMT NM_000156.5(GAMT): c.367A> G (p.Thr123Ala) single nucleotide variant Uncertain significance rs771827261 GRCh38 Chromosome 19, 1399548: 1399548
37 GAMT NM_000156.5(GAMT): c.189G> C (p.Arg63=) single nucleotide variant Conflicting interpretations of pathogenicity rs568392459 GRCh37 Chromosome 19, 1399930: 1399930
38 GAMT NM_000156.5(GAMT): c.189G> C (p.Arg63=) single nucleotide variant Conflicting interpretations of pathogenicity rs568392459 GRCh38 Chromosome 19, 1399931: 1399931
39 GAMT NM_000156.5(GAMT): c.182G> A (p.Gly61Glu) single nucleotide variant Uncertain significance rs77168423 GRCh37 Chromosome 19, 1399937: 1399937
40 GAMT NM_000156.5(GAMT): c.182G> A (p.Gly61Glu) single nucleotide variant Uncertain significance rs77168423 GRCh38 Chromosome 19, 1399938: 1399938
41 GAMT NM_000156.5(GAMT): c.396C> A (p.Ile132=) single nucleotide variant Conflicting interpretations of pathogenicity rs200500835 GRCh37 Chromosome 19, 1399190: 1399190
42 GAMT NM_000156.5(GAMT): c.396C> A (p.Ile132=) single nucleotide variant Conflicting interpretations of pathogenicity rs200500835 GRCh38 Chromosome 19, 1399191: 1399191
43 GAMT NM_000156.5(GAMT): c.328-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs371511930 GRCh37 Chromosome 19, 1399596: 1399596
44 GAMT NM_000156.5(GAMT): c.328-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs371511930 GRCh38 Chromosome 19, 1399597: 1399597
45 GAMT NM_000156.5(GAMT): c.153C> T (p.His51=) single nucleotide variant Likely benign rs760366501 GRCh37 Chromosome 19, 1401323: 1401323
46 GAMT NM_000156.5(GAMT): c.153C> T (p.His51=) single nucleotide variant Likely benign rs760366501 GRCh38 Chromosome 19, 1401324: 1401324
47 GAMT NM_000156.5(GAMT): c.270G> A (p.Glu90=) single nucleotide variant Likely benign rs138754049 GRCh37 Chromosome 19, 1399849: 1399849
48 GAMT NM_000156.5(GAMT): c.270G> A (p.Glu90=) single nucleotide variant Likely benign rs138754049 GRCh38 Chromosome 19, 1399850: 1399850
49 GAMT NM_000156.5(GAMT): c.314G> A (p.Arg105Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148838075 GRCh37 Chromosome 19, 1399805: 1399805
50 GAMT NM_000156.5(GAMT): c.314G> A (p.Arg105Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148838075 GRCh38 Chromosome 19, 1399806: 1399806

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 KEGG:

38
# Name Kegg Source Accession
1 Glycine, serine and threonine metabolism hsa00260
2 Arginine and proline metabolism hsa00330

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

# Super pathways Score Top Affiliating Genes
1 11.59 SLC6A5 SLC6A6 SLC6A8
2 11.29 ARG1 CS OAT
3
Show member pathways
11.04 GAMT GATM
4
Show member pathways
11.01 ARG1 GAMT GATM OAT
5
Show member pathways
10.3 ARG1 GAMT GATM OAT

GO Terms for Cerebral Creatine Deficiency Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 8.62 BCAP31 CANX

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 9.33 SLC6A5 SLC6A6 SLC6A8
2 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.26 BCAP31 CANX
3 creatine biosynthetic process GO:0006601 8.96 GAMT GATM
4 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 symporter activity GO:0015293 9.13 SLC6A5 SLC6A6 SLC6A8
2 neurotransmitter:sodium symporter activity GO:0005328 8.62 SLC6A6 SLC6A8

Sources for Cerebral Creatine Deficiency Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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