Cerebral Creatine Deficiency Syndrome 1 (CCDS1)

Alias:

Creatine Transporter Deficiency

Creatine Transporter Defect

Creatine Deficiency Syndrome, X-Linked

X-Linked Creatine Deficiency Syndrome

Slc6a8 Deficiency

Ccds1

Mental Retardation, X-Linked, with Seizures, Short Stature, and Midface Hypoplasia

Mental Retardation, X-Linked, with Creatine Transport Deficiency

Deficiency, Cerebral Creatine, Syndrome, Type 1

Slc6a8-Related Creatine Transporter Deficiency

Creatine Deficiency, X-Linked

X-Linked Creatine Deficiency

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

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 drugs Coal tar and Creatine have been mentioned in the context of this disorder. Affiliated tissues include brain and heart, and related phenotypes are intellectual disability and global developmental delay

Related ID：

MALACARDS：CRB151

OMIM：300352

MESH：D020739