MCID: CRT055
MIFTS: 27

Creatine Deficiency Syndromes malady

Categories: Genetic diseases

Aliases & Classifications for Creatine Deficiency Syndromes

Aliases & Descriptions for Creatine Deficiency Syndromes:

Name: Creatine Deficiency Syndromes 23 24
Cerebral Creatine Deficiency Syndromes 23 24

Classifications:



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 3. An important gene associated with Creatine Deficiency Syndromes is SLC6A8 (Solute Carrier Family 6 Member 8), and among its related pathways/superpathways are Viral mRNA Translation and Arginine and proline metabolism. The drugs Hypolipidemic Agents and Lipid Regulating Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and adipose tissue

GeneReviews: NBK3794

Related Diseases for Creatine Deficiency Syndromes

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
id 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 GAMT SLC6A8
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 GAMT SLC6A8
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 GAMT SLC6A8
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 GATM SLC6A8

MGI Mouse Phenotypes related to Creatine Deficiency Syndromes:

44
id 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):

(show top 50) (show all 62)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hypolipidemic Agents Phase 4,Phase 3
2 Lipid Regulating Agents Phase 4,Phase 3
3 Antimetabolites Phase 4,Phase 3
4 Atorvastatin Calcium Phase 4 134523-03-8
5 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
6 Anticholesteremic Agents Phase 4
7 Calcium, Dietary Phase 4
8
Ritonavir Approved, Investigational Phase 3,Phase 2 155213-67-5 392622
9
Lopinavir Approved Phase 3 192725-17-0 92727
10
Tenofovir Approved, Investigational Phase 3 147127-20-6 464205
11
Tipranavir Approved, Investigational Phase 2, Phase 3 174484-41-4 65027
12
Emtricitabine Approved, Investigational Phase 3 143491-57-0 60877
13
Lamivudine Approved, Investigational Phase 3 134678-17-4 60825
14
Abacavir Approved, Investigational Phase 3 136470-78-5 65140 441300
15 Dolutegravir Approved Phase 3 1051375-16-6 54726191
16
Choline Approved, Nutraceutical Phase 3 62-49-7 305
17
leucovorin Approved, Nutraceutical Phase 3 58-05-9 54575, 6560146 143
18
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
19
Glycine Approved, Nutraceutical, Vet_approved Phase 3 56-40-6 750
20
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
21
Creatine Approved, Nutraceutical Phase 3,Phase 2,Early Phase 1 57-00-1 586
22
protease inhibitors Phase 3,Phase 2
23 Gastrointestinal Agents Phase 3
24 Neurotransmitter Agents Phase 3
25 HIV Integrase Inhibitors Phase 3
26 HIV Protease Inhibitors Phase 3,Phase 2
27 Cytochrome P-450 CYP3A Inhibitors Phase 3,Phase 2
28 Hematinics Phase 3
29 Cytochrome P-450 Enzyme Inhibitors Phase 3,Phase 2
30 Nootropic Agents Phase 3
31 Nucleic Acid Synthesis Inhibitors Phase 3
32 Trace Elements Phase 3
33 Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination Phase 3
34 Vitamin B Complex Phase 3
35 Vitamins Phase 3
36 Anti-HIV Agents Phase 3,Phase 2
37 Anti-Infective Agents Phase 3,Phase 2
38 Integrase Inhibitors Phase 3
39 Raltegravir Potassium Phase 3
40 Anti-Retroviral Agents Phase 3,Phase 2
41 Reverse Transcriptase Inhibitors Phase 3
42 Micronutrients Phase 3
43 Antiviral Agents Phase 3,Phase 2
44 Dideoxynucleosides Phase 3
45 Atazanavir Sulfate Phase 3
46 Folate Nutraceutical Phase 3
47 Citrate Nutraceutical Phase 3
48
Citric Acid Nutraceutical, Vet_approved Phase 3 77-92-9 311
49 Vitamin B9 Nutraceutical Phase 3
50
Saquinavir Approved, Investigational Phase 2 127779-20-8 60787

Interventional clinical trials:

(show all 15)
id Name Status NCT ID Phase
1 Influence of Atorvastatin on Viral Replication During Antiretroviral Treatment Interruption Terminated NCT00355251 Phase 4
2 Study Comparing Lopinavir/Ritonavir (LPV/r) + Emtricitabine/Tenofovir Disoproxil Fumarate (FTC/TDF) With a Nucleoside Sparing Regimen Consisting of Lopinavir/Ritonavir + Raltegravir (RAL) Completed NCT00711009 Phase 3
3 Rollover Trial Safety and Tolerability of Combination Tipranavir and Ritonavir Use in HIV 1 Infected Subjects Completed NCT00146328 Phase 2, Phase 3
4 Effects of a Uridine Supplement on HIV Infected Adults With Lipoatrophy Completed NCT00307164 Phase 2, Phase 3
5 The Effects of 8-week Choline, Betaine, and Folic Acid Supplementation on Plasma Homocysteine Concentration During Guanidinoacetic Acid Loading in Young Healthy Volunteers Completed NCT01371357 Phase 3
6 A Study to Determine Safety and Efficacy of Dolutegravir/Abacavir/Lamivudine (DTG/ABC/3TC) in Human Immunodeficiency Virus (HIV)-1 Infected Antiretroviral Therapy (ART) Naïve Women (ARIA) Active, not recruiting NCT01910402 Phase 3
7 Effects of Creatine and Resistance Exercise Training in People With HIV Infection Completed NCT00484627 Phase 2
8 A Study of Invirase (Saquinavir)/Ritonavir in HIV-Infected Infants and Children. Completed NCT00623597 Phase 2
9 Safety of and Immune Response to the PENNVAX-B DNA Vaccine With and Without IL-12 in HIV-uninfected Adults Completed NCT00991354 Phase 1
10 Analysis of Telmisartan Administered With Antiretroviral Therapy (ART) in Patients With Acute HIV Infection Recruiting NCT02170246 Phase 1
11 Evaluating the Safety, Tolerability, and Immunogenicity of a Prime-Boost Regimen of HIV-1 Nef/Tat/Vif, Env pDNA Vaccine Delivered Intramuscularly With Electroporation and HIV-1 rVSV envC Vaccine in Healthy, HIV-Uninfected Adults Active, not recruiting NCT02654080 Phase 1
12 Evaluating the Safety and Immunogenicity of PENNVAX®-GP DNA Vaccine and IL-12 Plasmid, Delivered Via Intradermal or Intramuscular Electroporation in Healthy, HIV-Uninfected Adults Active, not recruiting NCT02431767 Phase 1
13 Assessment of the HIV CNS Reservoir, Neurological and Neuro-cognitive Effects, and Source of Rebound HIV in CNS Completed NCT02470351
14 Biomarker for Creatine Deficiency Syndromes Recruiting NCT02934854
15 Effects of Oral Supplementation With Creatine on Systemic Microvascular Endothelial Function in Vegetarian Individuals Recruiting NCT02961972 Early Phase 1

Search NIH Clinical Center for Creatine Deficiency Syndromes

Genetic Tests for Creatine Deficiency Syndromes

Genetic tests related to Creatine Deficiency Syndromes:

id Genetic test Affiliating Genes
1 Creatine Deficiency Syndromes 24 SLC6A8

Anatomical Context for Creatine Deficiency Syndromes

MalaCards organs/tissues related to Creatine Deficiency Syndromes:

39
Brain

Publications for Creatine Deficiency Syndromes

Articles related to Creatine Deficiency Syndromes:

(show all 33)
id 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 and guanidinoacetate content of human milk and infant formulas: implications for creatine deficiency syndromes and amino acid metabolism. ( 23388580 )
2013
7
Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. ( 23660394 )
2013
8
Creatine deficiency syndromes. ( 23622406 )
2013
9
Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency. ( 23770102 )
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
Defining the pathogenicity of creatine deficiency syndrome. ( 21140503 )
2011
13
Creatine deficiency syndromes: diagnostic pearls and pitfalls. ( 21856584 )
2011
14
Creatine deficiency syndromes and the importance of creatine synthesis in the brain. ( 21390529 )
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
Treatment monitoring of brain creatine deficiency syndromes: a 1H- and 31P-MR spectroscopy study. ( 17353334 )
2007
19
Molecularly imprinted solid-phase extraction combined with molecularly imprinted polymer-sensor: a diagnostic tool applicable to creatine deficiency syndrome. ( 17472218 )
2007
20
Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. ( 18652076 )
2007
21
Quantification of creatine and guanidinoacetate using GC-MS and LC-MS/MS for the detection of cerebral creatine deficiency syndromes. ( 18428409 )
2007
22
High frequency of creatine deficiency syndromes in patients with unexplained mental retardation. ( 17101918 )
2006
23
Methods for the diagnosis of creatine deficiency syndromes: a comparative study. ( 16621013 )
2006
24
[Diagnosis and treatment of brain creatine deficiency syndromes]. ( 16941429 )
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 syndromes: a new perspective on metabolic disorders and a diagnostic challenge. ( 9386648 )
1997
32
Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. ( 9386672 )
1997
33
Creatine Deficiency Syndromes ( 20301745 )
1993

Variations for Creatine Deficiency Syndromes

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:

id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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