glutamate formiminotransferase deficiency

Summary

DOID:0111679 - glutamate formiminotransferase deficiency

Disease Ontology Definition:A vitamin metabolic disorder characterized by elevated formiminoglutamate in urine and plasma and variable intellectual, developmental, and hematological phenotypes that has_material_basis_in homozygous or compound heterozygous mutation in the FTCD gene on chromosome 21q22.3.

Synonyms: Arakawa syndrome 1, FIGLUria, FIGLU-uria, formiminoglutamic acidemia, formiminoglutamic aciduria, formiminotransferase cyclodeaminase deficiency, formiminotransferase deficiency syndrome, FTCD 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

: ftcd

MIM:

MIM:229100 - GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY

MIM:229100 - GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY

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), vitamin metabolic disorder (is_a)