Glutamate formiminotransferase deficiency

Preferred Label : Glutamate formiminotransferase deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Formiminotransferase deficiency; Formiminoglutamic aciduria; FIGLU-URIA;

Description : Glutamate formiminotransferase deficiency is an autosomal recessive disorder and the second most common inborn error of folate metabolism. Features of a severe phenotype include elevated levels of formiminoglutamate (FIGLU) in the urine in response to histidine administration, megaloblastic anemia, and mental retardation. Features of a mild phenotype include high urinary excretion of FIGLU in the absence of histidine administration, mild developmental delay, and no hematologic abnormalities (summary by Hilton et al., 2003).;

Inheritance : Autosomal recessive;

Prefixed ID : #229100;

Details

Origin ID

229100;

UMLS CUI

C0268609;

Automatic exact mappings (from CISMeF team)
- glutamate formiminotransferase deficiency [DO Concept]
Currated CISMeF NLP mapping
- Formiminoglutamic aciduria [ICD-11 More detail]
- Formiminoglutamic aciduria [ORDO Disease]
- Glutamate formiminotransferase deficiency (disorder) [SNOMED CT concept]
- glutamate formiminotransferase deficiency [MeSH concept]
- glutamate formiminotransferase deficiency [MeSH Supplementary Concept]
- glutamate formiminotransferase deficiency [SNOMED Notion]
DO Cross reference
- glutamate formiminotransferase deficiency [DO Concept]
Genes related to phenotype
- Formiminotransferase cyclodeaminase [OMIM gene]
HPO term(s)
- Aminoaciduria [HPO term]
- Autosomal recessive inheritance [HPO term]
- Growth delay [HPO term]
- Hypersegmentation of neutrophil nuclei [HPO term]
- Intellectual disability [HPO term]
- Megaloblastic anemia [HPO term]
- Positive ferric chloride test [HPO term]
ORDO concept(s)
- Formiminoglutamic aciduria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Formiminoglutamic aciduria [ORDO Disease]
- Formiminoglutamic aciduria [ICD-11 More detail]
- Glutamate formiminotransferase deficiency (disorder) [SNOMED CT concept]
- glutamate formiminotransferase deficiency [MeSH Supplementary Concept]
- glutamate formiminotransferase deficiency [SNOMED Notion]
- glutamate formiminotransferase deficiency [MeSH concept]
- glutamate formiminotransferase deficiency [DO Concept]

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