AGAT deficiency

Summary

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: arginine:glycine amidinotransferase deficiency, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, arginine glycine amidinotransferase deficiency, Cerebral creatine deficiency syndrome 3

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gatm

MIM:

MIM:612718 - cerebral creatine deficiency syndrome 3; ccds3

MIM:612718 - cerebral creatine deficiency syndrome 3; ccds3

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), cerebral creatine deficiency syndrome (is_a)