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

Xenbase 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

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012996 - AGAT deficiency

MONDO:0012996 - AGAT deficiency

OMIM:

OMIM:612718 - CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3

OMIM:612718 - CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3

Other Model Organisms: AGR, 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)