CDS
MCID: CRT055
MIFTS: 39

Creatine Deficiency Syndromes (CDS)

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Creatine Deficiency Syndromes

MalaCards integrated aliases for Creatine Deficiency Syndromes:

Name: Creatine Deficiency Syndromes 24
Cerebral Creatine Deficiency Syndromes 24
Cerebral Creatine Deficiency Syndrome 59
Creatine Deficiency Syndrome 59
Ccds 59
Cds 59

Characteristics:

Orphanet epidemiological data:

59
creatine deficiency syndrome
Inheritance: Autosomal recessive,Not applicable,X-linked recessive; Age of onset: Childhood,Infancy;

Classifications:



External Ids:

ICD10 via Orphanet 34 E72.8
Orphanet 59 ORPHA79172

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 1 and cerebral creatine deficiency syndrome. An important gene associated with Creatine Deficiency Syndromes is GAMT (Guanidinoacetate N-Methyltransferase), and among its related pathways/superpathways are Viral mRNA Translation and Arginine and proline metabolism. The drugs Glycine and Creatine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and retina, and related phenotypes are Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection and adipose tissue

GeneReviews: NBK3794

Related Diseases for Creatine Deficiency Syndromes

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

(show top 50) (show all 721)
# Related Disease Score Top Affiliating Genes
1 cerebral creatine deficiency syndrome 1 32.7 SLC6A8 GATM GAMT
2 cerebral creatine deficiency syndrome 32.5 SLC6A8 GATM GAMT
3 cerebral creatine deficiency syndrome 3 32.5 SLC6A8 GATM GAMT
4 cerebral creatine deficiency syndrome 2 32.3 SLC6A8 GATM GAMT
5 central core disease of muscle 12.5
6 cleidocranial dysplasia 12.3
7 congenital chloride diarrhea 12.0
8 chanarin-dorfman syndrome 11.9
9 castleman disease 11.9
10 cervical dystonia 11.8
11 epilepsy occipital calcifications 11.7
12 l-arginine:glycine amidinotransferase deficiency 11.6
13 refractory celiac disease 11.5
14 conduct disorder 11.5
15 oppositional defiant disorder 11.5
16 cowden syndrome 1 11.5
17 gastric cancer 11.4
18 inherited thyroxine-binding globulin deficiency 11.4
19 thyroxine-binding globulin quantitative trait locus 11.4
20 conversion disorder 11.4
21 cowden syndrome 11.4
22 canavan disease 11.4
23 campomelic dysplasia 11.1
24 neutral lipid storage disease with myopathy 11.1
25 inflammatory bowel disease 29 11.1
26 t-b- severe combined immunodeficiency 11.1
27 helix syndrome 10.6
28 triiodothyronine receptor auxiliary protein 10.5
29 cleidocranial dysplasia spectrum disorder 10.4
30 crohn's disease 10.4
31 hair whorl 10.3
32 lymphocytic leukemia 10.3
33 attention deficit-hyperactivity disorder 10.3
34 rapidly involuting congenital hemangioma 10.3
35 papillomatosis, confluent and reticulated 10.3
36 leukemia, chronic lymphocytic 10.3
37 adenoma 10.3
38 leukemia, b-cell, chronic 10.3
39 malignant hyperthermia 10.3
40 scoliosis 10.2
41 heavy metal poisoning 10.2
42 colorectal cancer 10.2
43 lymphoma 10.2
44 splenomegaly 10.2
45 posttransplant acute limbic encephalitis 10.2
46 malignant hyperthermia 1 10.2
47 leukemia 10.2
48 celiac disease 1 10.2
49 thrombocytopenia 10.2
50 disseminated intravascular coagulation 10.2

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection GR00233-A-1 8.62 GATM SLC6A8

MGI Mouse Phenotypes related to Creatine Deficiency Syndromes:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.13 GAMT GATM SLC6A8
2 renal/urinary system MP:0005367 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
Glycine Approved, Nutraceutical, Vet_approved 56-40-6 750
2
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
3 arginine

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Biomarker for Creatine Deficiency Syndromes. An International, Multicenter, Epidemiological Study. 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:

41
Brain, Testes, Retina, Cortex

Publications for Creatine Deficiency Syndromes

Articles related to Creatine Deficiency Syndromes:

(show top 50) (show all 149)
# Title Authors PMID Year
1
Creatine Deficiency Syndromes 38 71
20301745 2009
2
Continuous age- and sex-adjusted reference intervals of urinary markers for cerebral creatine deficiency syndromes: a novel approach to the definition of reference intervals. 38 4
25759465 2015
3
Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency. 38 4
24276113 2014
4
Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency. 38 4
23770102 2013
5
Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. 38 4
23660394 2013
6
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 71
23519317 2013
7
AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review. 38 4
18392746 2008
8
High frequency of creatine deficiency syndromes in patients with unexplained mental retardation. 38 4
17101918 2006
9
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. 38 4
11326334 2001
10
Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect? 38 4
11261517 2001
11
Therapeutic trial of arginine restriction in creatine deficiency syndrome. 38 4
9686828 1998
12
Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene. 4
26003046 2015
13
Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1. 4
24597975 2015
14
Dodecyl creatine ester and lipid nanocapsule: a double strategy for the treatment of creatine transporter deficiency. 4
24559037 2015
15
X-linked creatine transporter deficiency: clinical aspects and pathophysiology. 4
24789340 2014
16
Case study for the evaluation of current treatment recommendations of guanidinoacetate methyltransferase deficiency: ineffectiveness of sodium benzoate. 4
24766785 2014
17
Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene. 4
24415674 2014
18
Newborn screening for guanidinoacetate methyl transferase deficiency. 4
24477282 2014
19
A Japanese adult case of guanidinoacetate methyltransferase deficiency. 4
23846910 2014
20
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring. 4
24268530 2014
21
Evidence-based treatment of guanidinoacetate methyltransferase (GAMT) deficiency. 4
24071436 2013
22
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. 4
23644449 2013
23
Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency. 4
23583224 2013
24
New insights into creatine transporter deficiency: the importance of recycling creatine in the brain. 4
22968583 2013
25
Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms. 4
23234264 2012
26
Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease. 4
23031365 2012
27
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine. 4
22170564 2012
28
Creatine metabolism in urea cycle defects. 4
22644604 2012
29
Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency. 4
22386973 2012
30
Detection of variants in SLC6A8 and functional analysis of unclassified missense variants. 4
22281021 2012
31
Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency. 4
22019491 2012
32
Guanidinoacetate methyltransferase (GAMT) deficiency in two Tunisian siblings: clinical and biochemical features. 4
22783571 2012
33
Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect. 4
21556832 2012
34
Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect. 4
21660517 2012
35
Clinical features and X-inactivation in females heterozygous for creatine transporter defect. 4
20528887 2011
36
Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database. 4
20717164 2011
37
Treatment of intractable epilepsy in a female with SLC6A8 deficiency. 4
20846889 2010
38
The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation. 4
24137762 2010
39
l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation. 4
20682460 2010
40
Arginine:glycine amidinotransferase deficiency: a treatable metabolic encephalomyopathy. 4
20625172 2010
41
Creatine transporter deficiency in two adult patients with static encephalopathy. 4
19319661 2009
42
[Cerebral creatine deficiency: first Spanish patients harbouring mutations in GAMT gene]. 4
19892372 2009
43
Epilepsy spectrum in cerebral creatine transporter deficiency. 4
19706062 2009
44
Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids. 4
19288536 2009
45
Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language. 4
19388150 2009
46
Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency. 4
19027335 2009
47
Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency. 4
18350323 2008
48
Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8. 4
18443316 2008
49
Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation. 4
17186272 2007
50
Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application. 4
17465020 2007

Variations for Creatine Deficiency Syndromes

ClinVar genetic disease variations for Creatine Deficiency Syndromes:

6 (show top 50) (show all 82)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GAMT NM_000156.6(GAMT): c.299_311dup (p.Arg105fs) duplication Pathogenic rs80338736 19:1399810-1399822 19:1399811-1399823
2 GAMT NM_000156.6(GAMT): c.59G> C (p.Trp20Ser) single nucleotide variant Pathogenic rs80338734 19:1401417-1401417 19:1401418-1401418
3 GAMT NM_000156.6(GAMT): c.327G> A (p.Lys109=) single nucleotide variant Pathogenic rs80338735 19:1399792-1399792 19:1399793-1399793
4 GAMT NM_000156.6(GAMT): c.522G> A (p.Trp174Ter) single nucleotide variant Pathogenic rs370421531 19:1398963-1398963 19:1398964-1398964
5 GAMT NM_000156.6(GAMT): c.316C> T (p.Gln106Ter) single nucleotide variant Pathogenic 19:1399803-1399803 19:1399804-1399804
6 GAMT NM_000156.6(GAMT): c.391+1G> C single nucleotide variant Likely pathogenic 19:1399522-1399522 19:1399523-1399523
7 GAMT NM_000156.6(GAMT): c.670G> A (p.Ala224Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs141471799 19:1397399-1397399 19:1397400-1397400
8 GAMT NM_000156.6(GAMT): c.655G> A (p.Asp219Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs753228876 19:1397414-1397414 19:1397415-1397415
9 GAMT NM_000156.6(GAMT): c.587C> T (p.Ala196Val) single nucleotide variant Conflicting interpretations of pathogenicity rs565109128 19:1397482-1397482 19:1397483-1397483
10 GAMT NM_000156.6(GAMT): c.581T> C (p.Val194Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs147739199 19:1397488-1397488 19:1397489-1397489
11 GAMT NM_000156.6(GAMT): c.189G> C (p.Arg63=) single nucleotide variant Conflicting interpretations of pathogenicity rs568392459 19:1399930-1399930 19:1399931-1399931
12 GAMT NM_000156.6(GAMT): c.396C> A (p.Ile132=) single nucleotide variant Conflicting interpretations of pathogenicity rs200500835 19:1399190-1399190 19:1399191-1399191
13 GAMT NM_000156.6(GAMT): c.392-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs192416474 19:1399201-1399201 19:1399202-1399202
14 GAMT NM_000156.6(GAMT): c.79T> C (p.Tyr27His) single nucleotide variant Conflicting interpretations of pathogenicity rs200833152 19:1401397-1401397 19:1401398-1401398
15 GAMT NM_000156.6(GAMT): c.328-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs371511930 19:1399596-1399596 19:1399597-1399597
16 GAMT NM_000156.6(GAMT): c.314G> A (p.Arg105Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148838075 19:1399805-1399805 19:1399806-1399806
17 GAMT NM_000156.6(GAMT): c.507_521dup (p.Cys169_Ser173dup) duplication Conflicting interpretations of pathogenicity rs779931959 19:1398964-1398978 19:1398965-1398979
18 GAMT NM_000156.6(GAMT): c.471T> G (p.Phe157Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs372260609 19:1399014-1399014 19:1399015-1399015
19 GAMT NM_000156.6(GAMT): c.662G> A (p.Arg221His) single nucleotide variant Uncertain significance rs766553422 19:1397407-1397407 19:1397408-1397408
20 GAMT NM_000156.6(GAMT): c.462C> G (p.Asn154Lys) single nucleotide variant Uncertain significance rs748256259 19:1399023-1399023 19:1399024-1399024
21 GAMT NM_000156.6(GAMT): c.553A> C (p.Ile185Leu) single nucleotide variant Uncertain significance rs757108273 19:1398932-1398932 19:1398933-1398933
22 GAMT NM_000156.6(GAMT): c.441C> A (p.His147Gln) single nucleotide variant Uncertain significance rs1555777047 19:1399145-1399145 19:1399146-1399146
23 GAMT NM_000156.6(GAMT): c.473G> A (p.Arg158His) single nucleotide variant Uncertain significance rs750195151 19:1399012-1399012 19:1399013-1399013
24 GAMT NM_000156.6(GAMT): c.227C> T (p.Ser76Leu) single nucleotide variant Uncertain significance rs150338273 19:1399892-1399892 19:1399893-1399893
25 GAMT NM_000156.6(GAMT): c.707G> C (p.Gly236Ala) single nucleotide variant Uncertain significance rs201029006 19:1397362-1397362 19:1397363-1397363
26 GAMT NM_000156.6(GAMT): c.689C> T (p.Thr230Met) single nucleotide variant Uncertain significance rs776537906 19:1397380-1397380 19:1397381-1397381
27 GAMT NM_000156.6(GAMT): c.391+15G> T single nucleotide variant Uncertain significance rs367567416 19:1399508-1399508 19:1399509-1399509
28 GAMT NM_000156.6(GAMT): c.167C> T (p.Ala56Val) single nucleotide variant Uncertain significance rs575350720 19:1401309-1401309 19:1401310-1401310
29 GAMT NM_000156.6(GAMT): c.622C> T (p.Arg208Cys) single nucleotide variant Uncertain significance rs778279369 19:1397447-1397447 19:1397448-1397448
30 GAMT NM_000156.6(GAMT): c.509A> G (p.Asn170Ser) single nucleotide variant Uncertain significance rs202199674 19:1398976-1398976 19:1398977-1398977
31 GAMT NM_000156.6(GAMT): c.224C> T (p.Ala75Val) single nucleotide variant Uncertain significance rs1441030187 19:1399895-1399895 19:1399896-1399896
32 GAMT NM_000156.6(GAMT): c.472C> T (p.Arg158Cys) single nucleotide variant Uncertain significance rs758217156 19:1399013-1399013 19:1399014-1399014
33 GAMT NM_000156.6(GAMT): c.701C> T (p.Thr234Ile) single nucleotide variant Uncertain significance rs1401966018 19:1397368-1397368 19:1397369-1397369
34 GAMT NM_000156.6(GAMT): c.530T> G (p.Leu177Arg) single nucleotide variant Uncertain significance rs1555777015 19:1398955-1398955 19:1398956-1398956
35 GAMT NM_000156.6(GAMT): c.594G> A (p.Leu198=) single nucleotide variant Uncertain significance 19:1397475-1397475 19:1397476-1397476
36 GAMT NM_000156.6(GAMT): c.150G> A (p.Met50Ile) single nucleotide variant Uncertain significance 19:1401326-1401326 19:1401327-1401327
37 GAMT NM_000156.6(GAMT): c.119C> T (p.Pro40Leu) single nucleotide variant Uncertain significance 19:1401357-1401357 19:1401358-1401358
38 GAMT NM_000156.6(GAMT): c.570+4C> T single nucleotide variant Uncertain significance 19:1398911-1398911 19:1398912-1398912
39 GAMT NM_000156.6(GAMT): c.403G> A (p.Asp135Asn) single nucleotide variant Uncertain significance 19:1399183-1399183 19:1399184-1399184
40 GAMT NM_000156.6(GAMT): c.182G> A (p.Gly61Glu) single nucleotide variant Uncertain significance rs77168423 19:1399937-1399937 19:1399938-1399938
41 GAMT NM_000156.6(GAMT): c.575C> T (p.Thr192Met) single nucleotide variant Uncertain significance rs141066224 19:1397494-1397494 19:1397495-1397495
42 GAMT NM_000156.6(GAMT): c.650C> T (p.Pro217Leu) single nucleotide variant Uncertain significance rs139890971 19:1397419-1397419 19:1397420-1397420
43 GAMT NM_000156.6(GAMT): c.608G> A (p.Arg203Gln) single nucleotide variant Uncertain significance rs376499506 19:1397461-1397461 19:1397462-1397462
44 GAMT NM_000156.6(GAMT): c.601G> A (p.Gly201Ser) single nucleotide variant Uncertain significance rs540554423 19:1397468-1397468 19:1397469-1397469
45 GAMT NM_000156.6(GAMT): c.262_264ATC[1] (p.Ile89del) short repeat Uncertain significance rs750232484 19:1399852-1399854 19:1399853-1399855
46 GAMT NM_000156.6(GAMT): c.22C> A (p.Pro8Thr) single nucleotide variant Uncertain significance rs776498025 19:1401454-1401454 19:1401455-1401455
47 GAMT NM_000156.6(GAMT): c.7G> A (p.Ala3Thr) single nucleotide variant Uncertain significance rs574164748 19:1401469-1401469 19:1401470-1401470
48 GAMT NM_000156.6(GAMT): c.211A> G (p.Met71Val) single nucleotide variant Uncertain significance rs372027428 19:1399908-1399908 19:1399909-1399909
49 GAMT NM_000156.6(GAMT): c.367A> G (p.Thr123Ala) single nucleotide variant Uncertain significance rs771827261 19:1399547-1399547 19:1399548-1399548
50 GAMT NM_000156.6(GAMT): c.179A> G (p.Lys60Arg) single nucleotide variant Uncertain significance 19:1401297-1401297 19:1401298-1401298

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 GeneCards Suite gene sharing:

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

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 SLC6A8 GAMT
2 creatine biosynthetic process GO:0006601 8.96 GATM GAMT
3 creatine metabolic process GO:0006600 8.8 SLC6A8 GATM GAMT

Sources for Creatine Deficiency Syndromes

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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