FIGLU-URIA
MCID: GLT005
MIFTS: 30

Glutamate Formiminotransferase Deficiency (FIGLU-URIA)

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

Aliases & Classifications for Glutamate Formiminotransferase Deficiency

MalaCards integrated aliases for Glutamate Formiminotransferase Deficiency:

Name: Glutamate Formiminotransferase Deficiency 57 53 25 59 75 29 13 55 6 40 73
Formiminotransferase Deficiency 57 25 75 37
Formiminoglutamic Aciduria 57 25 59 75
Figlu-Uria 57 25 75
Formiminoglutamicaciduria 53 75
Arakawa Syndrome 1 53 25
Formiminotransferase Cyclodeaminase Deficiency 59
Formiminotransferase Deficiency Syndrome 53
Formiminoglutamic Acidemia 53
Ftcd Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
formiminoglutamic aciduria
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
glutamate formiminotransferase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 229100
Orphanet 59 ORPHA51208
ICD10 via Orphanet 34 E70.8
UMLS via Orphanet 74 C0268609
MedGen 42 C0268609
KEGG 37 H01262
UMLS 73 C0268609

Summaries for Glutamate Formiminotransferase Deficiency

NIH Rare Diseases : 53 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.

MalaCards based summary : Glutamate Formiminotransferase Deficiency, also known as formiminotransferase deficiency, is related to folate malabsorption, hereditary and orotic aciduria. An important gene associated with Glutamate Formiminotransferase Deficiency is FTCD (Formimidoyltransferase Cyclodeaminase), and among its related pathways/superpathways are Histidine metabolism and One carbon pool by folate. Affiliated tissues include testes and neutrophil, and related phenotypes are intellectual disability and aminoaciduria

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 : 57 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 : 75 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:

# Related Disease Score Top Affiliating Genes
1 folate malabsorption, hereditary 11.3
2 orotic aciduria 10.2
3 homocystinuria 10.2
4 megaloblastic anemia 10.0
5 collagen vi-related myopathy 9.7 FTCD COL6A2

Graphical network of the top 20 diseases related to Glutamate Formiminotransferase Deficiency:



Diseases related to Glutamate Formiminotransferase Deficiency

Symptoms & Phenotypes for Glutamate Formiminotransferase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Heme:
megaloblastic anemia

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

Neuro:
mental deficiency

Growth:
physical retardation


Clinical features from OMIM:

229100

Human phenotypes related to Glutamate Formiminotransferase Deficiency:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 aminoaciduria 32 HP:0003355
3 growth delay 32 HP:0001510
4 megaloblastic anemia 32 HP:0001889
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:

# Genetic test Affiliating Genes
1 Glutamate Formiminotransferase Deficiency 29 FTCD

Anatomical Context for Glutamate Formiminotransferase Deficiency

MalaCards organs/tissues related to Glutamate Formiminotransferase Deficiency:

41
Testes, Neutrophil

Publications for Glutamate Formiminotransferase Deficiency

Articles related to Glutamate Formiminotransferase Deficiency:

(show all 14)
# 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
5
Methionine dependent glutamic acid formiminotransferase deficiency: human and experimental studies in its therapy. ( 732853 )
1978
6
Decrease in long-chain hydroxy-fatty acids of myelin cerebroside in formiminotransferase deficiency. ( 4664337 )
1972
7
Defect of incorporation of glycine-1- 14 C into urinary uric acid in formiminotransferase deficiency syndrome. ( 5038586 )
1972
8
Familial occurrence of formiminotransferase deficiency of syndrome. ( 5305027 )
1968
9
14CO2 in expired air after radioactive histidine injection in formiminotransferase deficiency syndrome. ( 5718724 )
1968
10
Tetrahydrofolate-dependent enzyme activities of erythrocytes in formiminotransferase deficiency syndrome. ( 5954916 )
1966
11
Aminoimidazolecarboxamide ribotide (AICAR)-transformylase of erythrocytes in formiminotransferase deficiency syndrome. ( 5955239 )
1966
12
Urinary AICA (4-amino-5-imidazolecarboxamide) following an oral dose of AICA in formiminotransferase deficiency syndrome. ( 5955880 )
1966
13
Erythrocyte formiminotransferase activity in formiminotransferase deficiency syndrome. ( 5956503 )
1966
14
Formiminotransferase-deficiency syndrome: a new inborn error of folic acid metabolism. ( 5897668 )
1965

Variations for Glutamate Formiminotransferase Deficiency

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

75
# 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 (show top 50) (show all 158)
# 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.403C> T (p.Arg135Cys) single nucleotide variant Pathogenic rs28941768 GRCh38 Chromosome 21, 46151945: 46151945
3 FTCD NM_006657.2(FTCD): c.896G> C (p.Arg299Pro) single nucleotide variant Pathogenic rs119469015 GRCh37 Chromosome 21, 47570043: 47570043
4 FTCD NM_006657.2(FTCD): c.896G> C (p.Arg299Pro) single nucleotide variant Pathogenic rs119469015 GRCh38 Chromosome 21, 46150129: 46150129
5 FTCD NM_006657.2(FTCD): c.990dupG (p.Pro331Alafs) duplication Conflicting interpretations of pathogenicity rs398124234 GRCh37 Chromosome 21, 47565840: 47565840
6 FTCD NM_006657.2(FTCD): c.990dupG (p.Pro331Alafs) duplication Conflicting interpretations of pathogenicity rs398124234 GRCh38 Chromosome 21, 46145926: 46145926
7 COL6A2; FTCD NM_001849.3(COL6A2): c.2697G> T (p.Thr899=) single nucleotide variant Benign/Likely benign rs11554669 GRCh37 Chromosome 21, 47552103: 47552103
8 COL6A2; FTCD NM_001849.3(COL6A2): c.2697G> T (p.Thr899=) single nucleotide variant Benign/Likely benign rs11554669 GRCh38 Chromosome 21, 46132189: 46132189
9 COL6A2; FTCD NM_001849.3(COL6A2): c.2724A> G (p.Thr908=) single nucleotide variant Benign rs9977394 GRCh37 Chromosome 21, 47552130: 47552130
10 COL6A2; FTCD NM_001849.3(COL6A2): c.2724A> G (p.Thr908=) single nucleotide variant Benign rs9977394 GRCh38 Chromosome 21, 46132216: 46132216
11 COL6A2; FTCD NM_001849.3(COL6A2): c.2803G> A (p.Gly935Arg) single nucleotide variant Benign/Likely benign rs35548026 GRCh37 Chromosome 21, 47552209: 47552209
12 COL6A2; FTCD NM_001849.3(COL6A2): c.2803G> A (p.Gly935Arg) single nucleotide variant Benign/Likely benign rs35548026 GRCh38 Chromosome 21, 46132295: 46132295
13 COL6A2; FTCD NM_001849.3(COL6A2): c.2979C> T (p.Arg993=) single nucleotide variant Benign/Likely benign rs6652 GRCh37 Chromosome 21, 47552385: 47552385
14 COL6A2; FTCD NM_001849.3(COL6A2): c.2979C> T (p.Arg993=) single nucleotide variant Benign/Likely benign rs6652 GRCh38 Chromosome 21, 46132471: 46132471
15 COL6A2; FTCD NM_001849.3(COL6A2): c.3043A> C (p.Ile1015Leu) single nucleotide variant Benign/Likely benign rs11910483 GRCh37 Chromosome 21, 47552449: 47552449
16 COL6A2; FTCD NM_001849.3(COL6A2): c.3043A> C (p.Ile1015Leu) single nucleotide variant Benign/Likely benign rs11910483 GRCh38 Chromosome 21, 46132535: 46132535
17 FTCD NM_006657.2(FTCD): c.1313C> T (p.Ala438Val) single nucleotide variant Benign/Likely benign rs61735841 GRCh37 Chromosome 21, 47558552: 47558552
18 FTCD NM_006657.2(FTCD): c.1313C> T (p.Ala438Val) single nucleotide variant Benign/Likely benign rs61735841 GRCh38 Chromosome 21, 46138638: 46138638
19 FTCD NM_006657.2(FTCD): c.1392C> G (p.Ala464=) single nucleotide variant Benign rs1047179 GRCh37 Chromosome 21, 47558473: 47558473
20 FTCD NM_006657.2(FTCD): c.1392C> G (p.Ala464=) single nucleotide variant Benign rs1047179 GRCh38 Chromosome 21, 46138559: 46138559
21 FTCD NM_006657.2(FTCD): c.417G> A (p.Pro139=) single nucleotide variant Benign rs61729391 GRCh37 Chromosome 21, 47571845: 47571845
22 FTCD NM_006657.2(FTCD): c.417G> A (p.Pro139=) single nucleotide variant Benign rs61729391 GRCh38 Chromosome 21, 46151931: 46151931
23 FTCD NM_006657.2(FTCD): c.54+12G> A single nucleotide variant Benign rs2277820 GRCh37 Chromosome 21, 47575372: 47575372
24 FTCD NM_006657.2(FTCD): c.54+12G> A single nucleotide variant Benign rs2277820 GRCh38 Chromosome 21, 46155458: 46155458
25 COL6A2; FTCD NM_001849.3(COL6A2): c.2592G> A (p.Thr864=) single nucleotide variant Benign/Likely benign rs1042930 GRCh37 Chromosome 21, 47551998: 47551998
26 COL6A2; FTCD NM_001849.3(COL6A2): c.2592G> A (p.Thr864=) single nucleotide variant Benign/Likely benign rs1042930 GRCh38 Chromosome 21, 46132084: 46132084
27 COL6A2; FTCD NM_001849.3(COL6A2): c.2980G> A (p.Ala994Thr) single nucleotide variant Benign/Likely benign rs117931394 GRCh37 Chromosome 21, 47552386: 47552386
28 COL6A2; FTCD NM_001849.3(COL6A2): c.2980G> A (p.Ala994Thr) single nucleotide variant Benign/Likely benign rs117931394 GRCh38 Chromosome 21, 46132472: 46132472
29 FTCD NM_006657.2(FTCD): c.1366dupG (p.Glu456Glyfs) duplication Pathogenic rs777099958 GRCh37 Chromosome 21, 47558499: 47558499
30 FTCD NM_006657.2(FTCD): c.1366dupG (p.Glu456Glyfs) duplication Pathogenic rs777099958 GRCh38 Chromosome 21, 46138585: 46138585
31 FTCD NM_006657.2(FTCD): c.1607T> A (p.Leu536Ter) single nucleotide variant Pathogenic rs149266909 GRCh37 Chromosome 21, 47556920: 47556920
32 FTCD NM_006657.2(FTCD): c.1607T> A (p.Leu536Ter) single nucleotide variant Pathogenic rs149266909 GRCh38 Chromosome 21, 46137006: 46137006
33 FTCD NM_006657.2(FTCD): c.1358C> T (p.Thr453Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200283734 GRCh37 Chromosome 21, 47558507: 47558507
34 FTCD NM_006657.2(FTCD): c.1358C> T (p.Thr453Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200283734 GRCh38 Chromosome 21, 46138593: 46138593
35 FTCD NM_006657.2(FTCD): c.906+15C> T single nucleotide variant Benign/Likely benign rs76474184 GRCh37 Chromosome 21, 47570018: 47570018
36 FTCD NM_006657.2(FTCD): c.906+15C> T single nucleotide variant Benign/Likely benign rs76474184 GRCh38 Chromosome 21, 46150104: 46150104
37 FTCD NM_006657.2(FTCD): c.430G> A (p.Gly144Arg) single nucleotide variant Uncertain significance rs138139105 GRCh37 Chromosome 21, 47571832: 47571832
38 FTCD NM_006657.2(FTCD): c.430G> A (p.Gly144Arg) single nucleotide variant Uncertain significance rs138139105 GRCh38 Chromosome 21, 46151918: 46151918
39 FTCD NM_006657.2(FTCD): c.452A> T (p.Lys151Met) single nucleotide variant Benign/Likely benign rs116089237 GRCh37 Chromosome 21, 47571810: 47571810
40 FTCD NM_006657.2(FTCD): c.452A> T (p.Lys151Met) single nucleotide variant Benign/Likely benign rs116089237 GRCh38 Chromosome 21, 46151896: 46151896
41 COL6A2; FTCD NM_006657.2(FTCD): c.1540-17_1540-16delTT deletion Conflicting interpretations of pathogenicity rs747091513 GRCh38 Chromosome 21, 46137089: 46137090
42 COL6A2; FTCD NM_006657.2(FTCD): c.1540-17_1540-16delTT deletion Conflicting interpretations of pathogenicity rs747091513 GRCh37 Chromosome 21, 47557003: 47557004
43 FTCD NM_006657.2(FTCD): c.1408C> T (p.Arg470Trp) single nucleotide variant Uncertain significance rs199807194 GRCh38 Chromosome 21, 46138543: 46138543
44 FTCD NM_006657.2(FTCD): c.1408C> T (p.Arg470Trp) single nucleotide variant Uncertain significance rs199807194 GRCh37 Chromosome 21, 47558457: 47558457
45 FTCD NM_006657.2(FTCD): c.1337G> A (p.Arg446Gln) single nucleotide variant Uncertain significance rs79021510 GRCh38 Chromosome 21, 46138614: 46138614
46 FTCD NM_006657.2(FTCD): c.1337G> A (p.Arg446Gln) single nucleotide variant Uncertain significance rs79021510 GRCh37 Chromosome 21, 47558528: 47558528
47 FTCD NM_006657.2(FTCD): c.1050C> G (p.Arg350=) single nucleotide variant Likely benign rs138803850 GRCh38 Chromosome 21, 46145866: 46145866
48 FTCD NM_006657.2(FTCD): c.1050C> G (p.Arg350=) single nucleotide variant Likely benign rs138803850 GRCh37 Chromosome 21, 47565780: 47565780
49 FTCD NM_006657.2(FTCD): c.988G> A (p.Gly330Arg) single nucleotide variant Uncertain significance rs774835292 GRCh38 Chromosome 21, 46145928: 46145928
50 FTCD NM_006657.2(FTCD): c.988G> A (p.Gly330Arg) single nucleotide variant Uncertain significance rs774835292 GRCh37 Chromosome 21, 47565842: 47565842

Expression for Glutamate Formiminotransferase Deficiency

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

Pathways for Glutamate Formiminotransferase Deficiency

Pathways related to Glutamate Formiminotransferase Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Histidine metabolism hsa00340
2 One carbon pool by folate hsa00670

GO Terms for Glutamate Formiminotransferase Deficiency

Cellular components related to Glutamate Formiminotransferase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 8.62 COL6A2 FTCD

Sources for Glutamate Formiminotransferase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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