CDS
MCID: CRT055
MIFTS: 38

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 58
Creatine Deficiency Syndrome 58
Ccds 58
Cds 58

Characteristics:

Orphanet epidemiological data:

58
creatine deficiency syndrome
Inheritance: Autosomal recessive,Not applicable,X-linked recessive; Age of onset: Childhood,Infancy;

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 33 E72.8
Orphanet 58 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 3 and cerebral creatine deficiency syndrome 1. 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 Creatine and Glycine have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and thyroid, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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 723)
# Related Disease Score Top Affiliating Genes
1 cerebral creatine deficiency syndrome 3 32.8 SLC6A8 GATM GAMT
2 cerebral creatine deficiency syndrome 1 32.8 SLC6A8 GATM GAMT
3 cerebral creatine deficiency syndrome 32.7 SLC6A8 GATM GAMT
4 cerebral creatine deficiency syndrome 2 32.7 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 with bilateral 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 cleidocranial dysplasia spectrum disorder 10.4
29 triiodothyronine receptor auxiliary protein 10.4
30 crohn's disease 10.4
31 lymphocytic leukemia 10.4
32 hair whorl 10.3
33 attention deficit-hyperactivity disorder 10.3
34 rapidly involuting congenital hemangioma 10.3
35 papillomatosis, confluent and reticulated 10.3
36 malignant hyperthermia 10.3
37 leukemia, chronic lymphocytic 10.3
38 adenoma 10.3
39 heavy metal poisoning 10.3
40 scoliosis 10.2
41 colorectal cancer 10.2
42 lymphoma 10.2
43 splenomegaly 10.2
44 posttransplant acute limbic encephalitis 10.2
45 malignant hyperthermia 1 10.2
46 dermatitis, atopic 10.2
47 leukemia 10.2
48 celiac disease 1 10.2
49 disseminated intravascular coagulation 10.2
50 thrombocytopenia 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 (show all 36)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-103 10.12 GATM
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.12 SLC6A8
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.12 SLC6A8
4 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.12 GAMT GATM
5 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.12 GATM
6 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.12 GATM
7 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.12 SLC6A8
8 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.12 SLC6A8
9 Increased shRNA abundance (Z-score > 2) GR00366-A-143 10.12 GAMT
10 Increased shRNA abundance (Z-score > 2) GR00366-A-158 10.12 GATM
11 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.12 GATM
12 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.12 GAMT
13 Increased shRNA abundance (Z-score > 2) GR00366-A-191 10.12 GAMT
14 Increased shRNA abundance (Z-score > 2) GR00366-A-200 10.12 GAMT
15 Increased shRNA abundance (Z-score > 2) GR00366-A-211 10.12 GAMT
16 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.12 GAMT
17 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.12 SLC6A8
18 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.12 GAMT
19 Increased shRNA abundance (Z-score > 2) GR00366-A-67 10.12 GAMT SLC6A8
20 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.12 GATM
21 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.12 SLC6A8
22 Increased shRNA abundance (Z-score > 2) GR00366-A-77 10.12 GAMT
23 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.12 GATM
24 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.12 GAMT
25 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.12 GAMT
26 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.12 GAMT SLC6A8
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.65 SLC6A8
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.65 GAMT
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.65 GAMT
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 9.65 SLC6A8
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 9.65 GAMT
32 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.65 GAMT
33 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.65 GAMT SLC6A8
34 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.65 GAMT
35 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.65 SLC6A8
36 Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection GR00233-A-1 9.16 GATM SLC6A8

MGI Mouse Phenotypes related to Creatine Deficiency Syndromes:

45
# 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
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
2
Glycine Approved, Nutraceutical, Vet_approved 56-40-6 750
3
Arginine Investigational, Nutraceutical 74-79-3 6322

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:

40
T Cells, B Cells, Thyroid, Bone, Heart, Lung, Brain

Publications for Creatine Deficiency Syndromes

Articles related to Creatine Deficiency Syndromes:

(show top 50) (show all 150)
# Title Authors PMID Year
1
Creatine Deficiency Syndromes 61 6
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. 61 24
25759465 2015
3
Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency. 61 24
24276113 2014
4
Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency. 61 24
23770102 2013
5
Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. 61 24
23660394 2013
6
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 6
23519317 2013
7
AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review. 61 24
18392746 2008
8
High frequency of creatine deficiency syndromes in patients with unexplained mental retardation. 61 24
17101918 2006
9
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. 61 24
11326334 2001
10
Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect? 61 24
11261517 2001
11
Therapeutic trial of arginine restriction in creatine deficiency syndrome. 61 24
9686828 1998
12
Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene. 24
26003046 2015
13
Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1. 24
24597975 2015
14
Dodecyl creatine ester and lipid nanocapsule: a double strategy for the treatment of creatine transporter deficiency. 24
24559037 2015
15
X-linked creatine transporter deficiency: clinical aspects and pathophysiology. 24
24789340 2014
16
Case study for the evaluation of current treatment recommendations of guanidinoacetate methyltransferase deficiency: ineffectiveness of sodium benzoate. 24
24766785 2014
17
Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene. 24
24415674 2014
18
Newborn screening for guanidinoacetate methyl transferase deficiency. 24
24477282 2014
19
A Japanese adult case of guanidinoacetate methyltransferase deficiency. 24
23846910 2014
20
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring. 24
24268530 2014
21
Evidence-based treatment of guanidinoacetate methyltransferase (GAMT) deficiency. 24
24071436 2013
22
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. 24
23644449 2013
23
Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency. 24
23583224 2013
24
New insights into creatine transporter deficiency: the importance of recycling creatine in the brain. 24
22968583 2013
25
Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms. 24
23234264 2012
26
Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease. 24
23031365 2012
27
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine. 24
22170564 2012
28
Creatine metabolism in urea cycle defects. 24
22644604 2012
29
Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency. 24
22386973 2012
30
Detection of variants in SLC6A8 and functional analysis of unclassified missense variants. 24
22281021 2012
31
Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect. 24
21660517 2012
32
Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect. 24
21556832 2012
33
Guanidinoacetate methyltransferase (GAMT) deficiency in two Tunisian siblings: clinical and biochemical features. 24
22783571 2012
34
Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency. 24
22019491 2012
35
Clinical features and X-inactivation in females heterozygous for creatine transporter defect. 24
20528887 2011
36
Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database. 24
20717164 2011
37
Treatment of intractable epilepsy in a female with SLC6A8 deficiency. 24
20846889 2010
38
The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation. 24
24137762 2010
39
l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation. 24
20682460 2010
40
Arginine:glycine amidinotransferase deficiency: a treatable metabolic encephalomyopathy. 24
20625172 2010
41
Creatine transporter deficiency in two adult patients with static encephalopathy. 24
19319661 2009
42
[Cerebral creatine deficiency: first Spanish patients harbouring mutations in GAMT gene]. 24
19892372 2009
43
Epilepsy spectrum in cerebral creatine transporter deficiency. 24
19706062 2009
44
Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids. 24
19288536 2009
45
Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language. 24
19388150 2009
46
Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency. 24
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. 24
18350323 2008
48
Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8. 24
18443316 2008
49
Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation. 24
17186272 2007
50
Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application. 24
17465020 2007

Variations for Creatine Deficiency Syndromes

ClinVar genetic disease variations for Creatine Deficiency Syndromes:

6 (show top 50) (show all 68) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GAMT NM_000156.6(GAMT):c.522G>A (p.Trp174Ter)SNV Pathogenic 205584 rs370421531 19:1398963-1398963 19:1398964-1398964
2 GAMT NM_000156.6(GAMT):c.299_311dup (p.Arg105fs)duplication Pathogenic 8302 rs80338736 19:1399807-1399808 19:1399808-1399809
3 GAMT NM_000156.6(GAMT):c.59G>C (p.Trp20Ser)SNV Pathogenic 8303 rs80338734 19:1401417-1401417 19:1401418-1401418
4 GAMT NM_000156.6(GAMT):c.327G>A (p.Lys109=)SNV Pathogenic 21065 rs80338735 19:1399792-1399792 19:1399793-1399793
5 GAMT NM_000156.6(GAMT):c.316C>T (p.Gln106Ter)SNV Pathogenic 566624 rs1369786965 19:1399803-1399803 19:1399804-1399804
6 GAMT NM_000156.6(GAMT):c.391+1G>CSNV Likely pathogenic 664123 19:1399522-1399522 19:1399523-1399523
7 GAMT NM_000156.6(GAMT):c.471T>G (p.Phe157Leu)SNV Conflicting interpretations of pathogenicity 517082 rs372260609 19:1399014-1399014 19:1399015-1399015
8 GAMT NM_000156.6(GAMT):c.670G>A (p.Ala224Thr)SNV Conflicting interpretations of pathogenicity 205593 rs141471799 19:1397399-1397399 19:1397400-1397400
9 GAMT NM_000156.6(GAMT):c.655G>A (p.Asp219Asn)SNV Conflicting interpretations of pathogenicity 205569 rs753228876 19:1397414-1397414 19:1397415-1397415
10 GAMT NM_000156.6(GAMT):c.587C>T (p.Ala196Val)SNV Conflicting interpretations of pathogenicity 205588 rs565109128 19:1397482-1397482 19:1397483-1397483
11 GAMT NM_000156.6(GAMT):c.314G>A (p.Arg105Gln)SNV Conflicting interpretations of pathogenicity 390894 rs148838075 19:1399805-1399805 19:1399806-1399806
12 GAMT NM_000156.6(GAMT):c.507_521dup (p.Cys169_Ser173dup)duplication Conflicting interpretations of pathogenicity 431959 rs779931959 19:1398963-1398964 19:1398964-1398965
13 GAMT NM_000156.6(GAMT):c.441C>A (p.His147Gln)SNV Uncertain significance 450331 rs1555777047 19:1399145-1399145 19:1399146-1399146
14 GAMT NM_000156.6(GAMT):c.473G>A (p.Arg158His)SNV Uncertain significance 478015 rs750195151 19:1399012-1399012 19:1399013-1399013
15 GAMT NM_000156.6(GAMT):c.553A>C (p.Ile185Leu)SNV Uncertain significance 478016 rs757108273 19:1398932-1398932 19:1398933-1398933
16 GAMT NM_000156.6(GAMT):c.407C>T (p.Thr136Met)SNV Uncertain significance 544257 rs374724533 19:1399179-1399179 19:1399180-1399180
17 GAMT NM_000156.6(GAMT):c.594G>A (p.Leu198=)SNV Uncertain significance 571372 rs1569003278 19:1397475-1397475 19:1397476-1397476
18 GAMT NM_000156.6(GAMT):c.150G>A (p.Met50Ile)SNV Uncertain significance 566179 rs1569008795 19:1401326-1401326 19:1401327-1401327
19 GAMT NM_000156.6(GAMT):c.119C>T (p.Pro40Leu)SNV Uncertain significance 569288 rs1222736128 19:1401357-1401357 19:1401358-1401358
20 GAMT NM_000156.6(GAMT):c.570+4C>TSNV Uncertain significance 582572 rs199967562 19:1398911-1398911 19:1398912-1398912
21 GAMT NM_000156.6(GAMT):c.403G>A (p.Asp135Asn)SNV Uncertain significance 573140 rs774144200 19:1399183-1399183 19:1399184-1399184
22 GAMT NM_000156.6(GAMT):c.662G>A (p.Arg221His)SNV Uncertain significance 544254 rs766553422 19:1397407-1397407 19:1397408-1397408
23 GAMT NM_000156.6(GAMT):c.462C>G (p.Asn154Lys)SNV Uncertain significance 544260 rs748256259 19:1399023-1399023 19:1399024-1399024
24 GAMT NM_000156.6(GAMT):c.391+15G>TSNV Uncertain significance 544259 rs367567416 19:1399508-1399508 19:1399509-1399509
25 GAMT NM_000156.6(GAMT):c.167C>T (p.Ala56Val)SNV Uncertain significance 544255 rs575350720 19:1401309-1401309 19:1401310-1401310
26 GAMT NM_000156.6(GAMT):c.622C>T (p.Arg208Cys)SNV Uncertain significance 544261 rs778279369 19:1397447-1397447 19:1397448-1397448
27 GAMT NM_000156.6(GAMT):c.509A>G (p.Asn170Ser)SNV Uncertain significance 544253 rs202199674 19:1398976-1398976 19:1398977-1398977
28 GAMT NM_000156.6(GAMT):c.224C>T (p.Ala75Val)SNV Uncertain significance 544251 rs1441030187 19:1399895-1399895 19:1399896-1399896
29 GAMT NM_000156.6(GAMT):c.701C>T (p.Thr234Ile)SNV Uncertain significance 544252 rs1401966018 19:1397368-1397368 19:1397369-1397369
30 GAMT NM_000156.6(GAMT):c.530T>G (p.Leu177Arg)SNV Uncertain significance 544258 rs1555777015 19:1398955-1398955 19:1398956-1398956
31 GAMT NM_000156.6(GAMT):c.472C>T (p.Arg158Cys)SNV Uncertain significance 544256 rs758217156 19:1399013-1399013 19:1399014-1399014
32 GAMT NM_000156.6(GAMT):c.575C>T (p.Thr192Met)SNV Uncertain significance 205582 rs141066224 19:1397494-1397494 19:1397495-1397495
33 GAMT NM_000156.6(GAMT):c.227C>T (p.Ser76Leu)SNV Uncertain significance 195022 rs150338273 19:1399892-1399892 19:1399893-1399893
34 GAMT NM_000156.6(GAMT):c.707G>C (p.Gly236Ala)SNV Uncertain significance 205596 rs201029006 19:1397362-1397362 19:1397363-1397363
35 GAMT NM_000156.6(GAMT):c.689C>T (p.Thr230Met)SNV Uncertain significance 205595 rs776537906 19:1397380-1397380 19:1397381-1397381
36 GAMT NM_000156.6(GAMT):c.650C>T (p.Pro217Leu)SNV Uncertain significance 205592 rs139890971 19:1397419-1397419 19:1397420-1397420
37 GAMT NM_000156.6(GAMT):c.608G>A (p.Arg203Gln)SNV Uncertain significance 205590 rs376499506 19:1397461-1397461 19:1397462-1397462
38 GAMT NM_000156.6(GAMT):c.601G>A (p.Gly201Ser)SNV Uncertain significance 205589 rs540554423 19:1397468-1397468 19:1397469-1397469
39 GAMT NM_000156.6(GAMT):c.211A>G (p.Met71Val)SNV Uncertain significance 237120 rs372027428 19:1399908-1399908 19:1399909-1399909
40 GAMT NM_000156.6(GAMT):c.367A>G (p.Thr123Ala)SNV Uncertain significance 287314 rs771827261 19:1399547-1399547 19:1399548-1399548
41 GAMT NM_000156.6(GAMT):c.182G>A (p.Gly61Glu)SNV Uncertain significance 328350 rs77168423 19:1399937-1399937 19:1399938-1399938
42 GAMT NM_000156.6(GAMT):c.262_264ATC[1] (p.Ile89del)short repeat Uncertain significance 205607 rs750232484 19:1399852-1399854 19:1399853-1399855
43 GAMT NM_000156.6(GAMT):c.22C>A (p.Pro8Thr)SNV Uncertain significance 205598 rs776498025 19:1401454-1401454 19:1401455-1401455
44 GAMT NM_000156.6(GAMT):c.7G>A (p.Ala3Thr)SNV Uncertain significance 205574 rs574164748 19:1401469-1401469 19:1401470-1401470
45 GAMT NM_000156.6(GAMT):c.570+5G>ASNV Uncertain significance 640879 19:1398910-1398910 19:1398911-1398911
46 GAMT NM_000156.6(GAMT):c.460-7T>GSNV Uncertain significance 663022 19:1399032-1399032 19:1399033-1399033
47 GAMT NM_000156.6(GAMT):c.179A>G (p.Lys60Arg)SNV Uncertain significance 568865 rs1228556317 19:1401297-1401297 19:1401298-1401298
48 GAMT NM_000156.6(GAMT):c.562A>G (p.Met188Val)SNV Uncertain significance 572931 rs1366312192 19:1398923-1398923 19:1398924-1398924
49 GAMT NM_000156.6(GAMT):c.623G>A (p.Arg208His)SNV Uncertain significance 577478 rs767887772 19:1397446-1397446 19:1397447-1397447
50 GAMT NM_000156.6(GAMT):c.463C>T (p.His155Tyr)SNV Uncertain significance 569470 rs1374777721 19:1399022-1399022 19:1399023-1399023

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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