Cerebral Creatine Deficiency Syndrome 3 (CCDS3)

Alias:

Agat Deficiency

Arginine:glycine Amidinotransferase Deficiency

Creatine Deficiency Syndrome Due to Agat Deficiency

L-Arginine:glycine Amidinotransferase Deficiency

Gatm Deficiency

Ccds3

L-Arginine:glycine Aminidotransferase Deficiency

Deficiency, Cerebral Creatine, Syndrome, Type 3

Arginine Glycine Amidinotransferase Deficiency

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Cerebral Creatine Deficiency Syndrome 3, also known as agat deficiency, is related to cerebral creatine deficiency syndrome 1 and type 2 diabetes mellitus. An important gene associated with Cerebral Creatine Deficiency Syndrome 3 is GATM (Glycine Amidinotransferase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include brain and whole blood, and related phenotypes are gowers sign and intellectual disability

Related ID：

MALACARDS：CRB148

OMIM：612718

MESH：D000592