X-Linked Creatine Transporter Deficiency

Alias:
Creatine Transporter Deficiency
Slc6a8 Deficiency
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
X-Linked Creatine Transporter Deficiency, also known as creatine transporter deficiency, is related to creatine deficiency disorders and cerebral creatine deficiency syndrome 1. An important gene associated with X-Linked Creatine Transporter Deficiency is SLC6A8 (Solute Carrier Family 6 Member 8). The drugs Coal tar and Creatine have been mentioned in the context of this disorder. Affiliated tissues include brain and skin, and related phenotypes are intellectual disability and seizure
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
--
1
12
43

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top