MCID: GLT005
MIFTS: 28

Glutamate Formiminotransferase Deficiency

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Blood diseases

Aliases & Classifications for Glutamate Formiminotransferase Deficiency

MalaCards integrated aliases for Glutamate Formiminotransferase Deficiency:

Name: Glutamate Formiminotransferase Deficiency 54 50 25 56 71 29 13 52 69
Formiminoglutamic Aciduria 24 25 56 71
Formiminotransferase Deficiency 24 25 71
Figlu-Uria 24 25 71
Formiminoglutamicaciduria 50 71
Arakawa Syndrome 1 50 25
Formiminotransferase Cyclodeaminase Deficiency 56
Formiminotransferase Deficiency Syndrome 50
Formiminoglutamic Acidemia 50
Ftcd Deficiency 56

Characteristics:

Orphanet epidemiological data:

56
formiminoglutamic aciduria
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
glutamate formiminotransferase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 229100
Orphanet 56 ORPHA51208
UMLS via Orphanet 70 C0268609
ICD10 via Orphanet 34 E70.8
MedGen 40 C0268609

Summaries for Glutamate Formiminotransferase Deficiency

NIH Rare Diseases : 50 glutamate formiminotransferase deficiency is an inheritedmetabolic disorder that affects physical and mental development. there are two forms of this condition, a mild form and a severe form. people with the mild form have minor delays in physical and mental development and may have mild intellectual disability. they also have unusually high levels of a molecule called formiminoglutamate (figlu) in their urine. individuals with the severe form have profound intellectual disability, delayed development of motor skills (sitting, standing, and walking) and megaloblastic anemia. in addition to figlu in their urine, they have elevated amounts of certain b vitamins (called folates) in their blood. glutamate formiminotransferase deficiency is caused by mutations in the ftcd gene. it is inherited in an autosomal recessive pattern. there are currently no treatments known to prevent or delay the signs and symptoms of glutamate formiminotransferase deficiency. last updated: 8/10/2016

MalaCards based summary : Glutamate Formiminotransferase Deficiency, also known as formiminoglutamic aciduria, is related to folate malabsorption, hereditary and orotic aciduria, and has symptoms including megaloblastic anemia, aminoaciduria and intellectual disability. An important gene associated with Glutamate Formiminotransferase Deficiency is FTCD (Formimidoyltransferase Cyclodeaminase). Affiliated tissues include testes and neutrophil.

Genetics Home Reference : 25 Glutamate formiminotransferase deficiency is an inherited disorder that affects physical and mental development. There are two forms of this condition, which are distinguished by the severity of symptoms.

OMIM : 54
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). (229100)

UniProtKB/Swiss-Prot : 71 Glutamate formiminotransferase deficiency: Autosomal recessive disorder. 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 hematological abnormalities.

Related Diseases for Glutamate Formiminotransferase Deficiency

Diseases related to Glutamate Formiminotransferase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 folate malabsorption, hereditary 11.0
2 orotic aciduria 10.0
3 homocystinuria 10.0
4 megaloblastic anemia 9.9

Symptoms & Phenotypes for Glutamate Formiminotransferase Deficiency

Symptoms via clinical synopsis from OMIM:

54

Neuro:
mental deficiency

Heme:
megaloblastic anemia

Growth:
physical retardation

Lab:
hypersegmentation of neutrophil nuclei
formiminoglutamic aciduria
glutamate formiminotransferase deficiency
positive ferric chloride test
hyperfolicacidemia


Clinical features from OMIM:

229100

Human phenotypes related to Glutamate Formiminotransferase Deficiency:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 megaloblastic anemia 32 HP:0001889
2 aminoaciduria 32 HP:0003355
3 intellectual disability 32 HP:0001249
4 growth delay 32 HP:0001510
5 hypersegmentation of neutrophil nuclei 32 HP:0004821
6 positive ferric chloride test 32 HP:0003612

Drugs & Therapeutics for Glutamate Formiminotransferase Deficiency

Search Clinical Trials , NIH Clinical Center for Glutamate Formiminotransferase Deficiency

Genetic Tests for Glutamate Formiminotransferase Deficiency

Genetic tests related to Glutamate Formiminotransferase Deficiency:

id Genetic test Affiliating Genes
1 Glutamate Formiminotransferase Deficiency 29
2 Formiminotransferase Deficiency 24 FTCD

Anatomical Context for Glutamate Formiminotransferase Deficiency

MalaCards organs/tissues related to Glutamate Formiminotransferase Deficiency:

39
Testes, Neutrophil

Publications for Glutamate Formiminotransferase Deficiency

Articles related to Glutamate Formiminotransferase Deficiency:

id Title Authors Year
1
Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening. ( 16421867 )
2006
2
The molecular basis of glutamate formiminotransferase deficiency. ( 12815595 )
2003
3
Cloning and characterization of human FTCD on 21q22.3, a candidate gene for glutamate formiminotransferase deficiency. ( 10773664 )
2000
4
[Glutamate-formiminotransferase deficiency]. ( 9645043 )
1998

Variations for Glutamate Formiminotransferase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Glutamate Formiminotransferase Deficiency:

71
id Symbol AA change Variation ID SNP ID
1 FTCD p.Arg135Cys VAR_015887 rs28941768
2 FTCD p.Arg299Pro VAR_015888 rs119469015

ClinVar genetic disease variations for Glutamate Formiminotransferase Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FTCD NM_006657.2(FTCD): c.403C> T (p.Arg135Cys) single nucleotide variant Pathogenic rs28941768 GRCh37 Chromosome 21, 47571859: 47571859
2 FTCD NM_006657.2(FTCD): c.896G> C (p.Arg299Pro) single nucleotide variant Pathogenic rs119469015 GRCh37 Chromosome 21, 47570043: 47570043
3 FTCD NM_006657.2(FTCD): c.1366dupG (p.Glu456Glyfs) duplication Pathogenic rs777099958 GRCh37 Chromosome 21, 47558499: 47558499
4 FTCD NM_006657.2(FTCD): c.1607T> A (p.Leu536Ter) single nucleotide variant Pathogenic rs149266909 GRCh37 Chromosome 21, 47556920: 47556920
5 FTCD NM_006657.2(FTCD): c.1358C> T (p.Thr453Met) single nucleotide variant Likely pathogenic rs200283734 GRCh37 Chromosome 21, 47558507: 47558507

Expression for Glutamate Formiminotransferase Deficiency

Search GEO for disease gene expression data for Glutamate Formiminotransferase Deficiency.

Pathways for Glutamate Formiminotransferase Deficiency

GO Terms for Glutamate Formiminotransferase Deficiency

Sources for Glutamate Formiminotransferase Deficiency

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59 PubMed
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
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70 UMLS via Orphanet
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