MCID: CRB137
MIFTS: 27

Cerebral Creatine Deficiency Syndrome malady

Categories: Metabolic diseases

Aliases & Classifications for Cerebral Creatine Deficiency Syndrome

Aliases & Descriptions for Cerebral Creatine Deficiency Syndrome:

Name: Cerebral Creatine Deficiency Syndrome 12 14
Cerebral Creatine Deficiency Syndromes 29

Classifications:



External Ids:

Disease Ontology 12 DOID:0050798

Summaries for Cerebral Creatine Deficiency Syndrome

MalaCards based summary : Cerebral Creatine Deficiency Syndrome, 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 Cerebral Creatine Deficiency Syndrome is GAMT (Guanidinoacetate N-Methyltransferase), and among its related pathways/superpathways are Amino Acid metabolism and Glycine, serine and threonine metabolism. The drugs Telmisartan and Angiotensin II have been mentioned in the context of this disorder. Related phenotype is homeostasis/metabolism.

Related Diseases for Cerebral Creatine Deficiency Syndrome

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.28 SLC6A6 SLC6A8 XK ARG1 FABP3 GAMT

Drugs & Therapeutics for Cerebral Creatine Deficiency Syndrome

Drugs for Cerebral Creatine Deficiency Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Telmisartan Approved, Investigational Phase 1 144701-48-4 65999
2
Angiotensin II Phase 1 68521-88-0, 11128-99-7 65143 172198
3 Angiotensin II Type 1 Receptor Blockers Phase 1
4 Angiotensin Receptor Antagonists Phase 1
5 Angiotensinogen Phase 1
6 Antihypertensive Agents Phase 1
7
Creatine Approved, Nutraceutical 57-00-1 586

Interventional clinical trials:


id Name Status NCT ID Phase
1 Analysis of Telmisartan Administered With Antiretroviral Therapy (ART) in Patients With Acute HIV Infection Recruiting NCT02170246 Phase 1
2 Assessment of the HIV CNS Reservoir, Neurological and Neuro-cognitive Effects, and Source of Rebound HIV in CNS Completed NCT02470351
3 Biomarker for Creatine Deficiency Syndromes Recruiting NCT02934854

Search NIH Clinical Center for Cerebral Creatine Deficiency Syndrome

Genetic Tests for Cerebral Creatine Deficiency Syndrome

Genetic tests related to Cerebral Creatine Deficiency Syndrome:

id 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:

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
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
3
Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes. ( 25521922 )
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

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:

id Super pathways Score Top Affiliating Genes
1 11.42 ARG1 CS MAOA OAT
2
Show member pathways
11.15 GAMT GATM MAOA
3
Show member pathways
10.78 ARG1 GAMT GATM MAOA OAT
4
Show member pathways
10.64 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:

id Name GO ID Score Top Affiliating Genes
1 amino acid transport GO:0006865 9.26 SLC6A6 XK
2 neurotransmitter transport GO:0006836 9.16 SLC6A6 SLC6A8
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:

id 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
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
Content
Loading form....