X-linked Creatine Transporter Deficiency
X-linked Creatine Transporter Deficiency
About the Disease
Cerebral Creatine Deficiency Syndrome 1, also known as creatine transporter deficiency, is related to cerebral creatine deficiency syndrome 3 and cerebral creatine deficiency syndrome 2, and has symptoms including constipation, muscle spasticity and seizures. An important gene associated with Cerebral Creatine Deficiency Syndrome 1 is SLC6A8 (Solute Carrier Family 6 Member 8), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drug Creatine has been mentioned in the context of this disorder. Affiliated tissues include brain, heart and eye, and related phenotypes are intellectual disability and global developmental delay
Common Targets / Biomarkers
G6535
Other Diseases
X-linked Myotubular Myopathy | X-linked Sideroblastic Anemia | Xeroderma Pigmentosum | Xeroderma Pigmentosum Variant Type | Yellow Fever | Zellweger Syndrome | Zimmermann-Laband Syndrome | Zollinger-Ellison Syndrome | Zygomycosis
