ZFIN Human Disease: glutamate formiminotransferase deficiency

OBO ID: DOID:0111679

Term Name:	glutamate formiminotransferase deficiency		Search Ontology:
Synonyms:	Arakawa syndrome 1 FIGLUria formiminoglutamic acidemia formiminoglutamic aciduria formiminotransferase cyclodeaminase deficiency formiminotransferase deficiency syndrome FTCD deficiency
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. (2)
References:	GARD:9279 MESH:C537425 OMIM:229100 ORDO:51208 SNOMEDCT_US_2023_03_01:59761008 UMLS_CUI:C0268609
Ontology:	Human Disease ( DOID:0111679 )

Relationships

is a type of:	autosomal recessive disease vitamin metabolic disorder autosomal recessive disease vitamin metabolic disorder Show first 5 Terms

OTHER glutamate formiminotransferase deficiency PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
FTCD	ftcd	Glutamate formiminotransferase deficiency	229100

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None