MCID: SLC018
MIFTS: 12

Slc6a8-Related Creatine Transporter Deficiency malady

Categories: Genetic diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Slc6a8-Related Creatine Transporter Deficiency

Aliases & Descriptions for Slc6a8-Related Creatine Transporter Deficiency:

Name: Slc6a8-Related Creatine Transporter Deficiency 24
Mental Retardation, X-Linked, with Creatine Transport Deficiency 24
Creatine Deficiency, X-Linked 69
Slc6a8 Deficiency 24

Classifications:



Summaries for Slc6a8-Related Creatine Transporter Deficiency

MalaCards based summary : Slc6a8-Related Creatine Transporter Deficiency, also known as mental retardation, x-linked, with creatine transport deficiency, is related to cerebral creatine deficiency syndrome 1, and has symptoms including constipation, muscle spasticity and seizures. An important gene associated with Slc6a8-Related Creatine Transporter Deficiency is SLC6A8 (Solute Carrier Family 6 Member 8). The drugs Cisplatin and Fluorouracil have been mentioned in the context of this disorder.

Related Diseases for Slc6a8-Related Creatine Transporter Deficiency

Diseases related to Slc6a8-Related Creatine Transporter Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 cerebral creatine deficiency syndrome 1 11.2

Symptoms & Phenotypes for Slc6a8-Related Creatine Transporter Deficiency

UMLS symptoms related to Slc6a8-Related Creatine Transporter Deficiency:


constipation, muscle spasticity, seizures, vomiting

Drugs & Therapeutics for Slc6a8-Related Creatine Transporter Deficiency

Drugs for Slc6a8-Related Creatine Transporter Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
2
Fluorouracil Approved Phase 2 51-21-8 3385
3
Docetaxel Approved May 1996, Investigational Phase 2 114977-28-5 148124 9877265
4 Antimitotic Agents Phase 2
5
Creatine Approved, Nutraceutical 57-00-1 586

Interventional clinical trials:


id Name Status NCT ID Phase
1 Cyclin D1 Based TPF Induction Chemotherapy for Oral Squamous Cell Carcinoma Patients at Clinical N2 Stage Not yet recruiting NCT02290145 Phase 2
2 Observational Study of Males With Creatine Transporter Deficiency Recruiting NCT02931682
3 Biomarker for Creatine Deficiency Syndromes Recruiting NCT02934854

Search NIH Clinical Center for Slc6a8-Related Creatine Transporter Deficiency

Genetic Tests for Slc6a8-Related Creatine Transporter Deficiency

Genetic tests related to Slc6a8-Related Creatine Transporter Deficiency:

id Genetic test Affiliating Genes
1 Slc6a8-Related Creatine Transporter Deficiency 24 SLC6A8

Anatomical Context for Slc6a8-Related Creatine Transporter Deficiency

Publications for Slc6a8-Related Creatine Transporter Deficiency

Variations for Slc6a8-Related Creatine Transporter Deficiency

Expression for Slc6a8-Related Creatine Transporter Deficiency

Search GEO for disease gene expression data for Slc6a8-Related Creatine Transporter Deficiency.

Pathways for Slc6a8-Related Creatine Transporter Deficiency

GO Terms for Slc6a8-Related Creatine Transporter Deficiency

Sources for Slc6a8-Related Creatine Transporter Deficiency

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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