Details of Disease | DrugMAP

General Information of Disease (ID: DISKR1WR)

Disease Name	Formiminoglutamic aciduria
Synonyms	Formiminoglutamicaciduria (FIGLU-Uria); Figlu-Uria; formiminoglutamic acidemia; Arakawa syndrome 1; formiminotransferase deficiency; formiminotransferase deficiency syndrome; formiminoglutamic aciduria; formiminotransferase cyclodeaminase deficiency; FTCD deficiency; glutamate formiminotransferase deficiency
Definition	Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia.
Disease Hierarchy	DISQL71U: Inherited deficiency anemia DISVIZPC: Megaloblastic anemia DISSPA57: Disorder of folate metabolism and transport DISKR1WR: Formiminoglutamic aciduria
Disease Identifiers	MONDO ID MONDO_0009240 MESH ID C537425 UMLS CUI C0268609 OMIM ID 229100 MedGen ID 82823 Orphanet ID 51208 SNOMED CT ID 59761008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC46A1	TTY8Z2E	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FTCD	OTX9HZT5	Definitive	Autosomal recessive	[2]
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References

1	Update and new concepts in vitamin responsive disorders of folate transport and metabolism.J Inherit Metab Dis. 2012 Jul;35(4):665-70. doi: 10.1007/s10545-011-9418-1. Epub 2011 Nov 23.
2	The molecular basis of glutamate formiminotransferase deficiency. Hum Mutat. 2003 Jul;22(1):67-73. doi: 10.1002/humu.10236.