Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:0050712 - AGAT deficiency


Disease Ontology Definition:An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis.

Synonyms: CEREBRAL CREATINE DEFICIENCY SYNDROME 3, arginine:glycine amidinotransferase deficiency

In OMIM:
OMIM:612718 - CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3

In Mondo Disease Ontology:
MONDO:0012996 - AGAT deficiency

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : gatm

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): cerebral creatine deficiency syndrome (is_a)