GLUTH
MCID: GLT014
MIFTS: 37

Glutathionuria (GLUTH)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Glutathionuria

MalaCards integrated aliases for Glutathionuria:

Name: Glutathionuria 57 12 20 58 73 44
Gamma-Glutamyltransferase Deficiency 57 20 73 6 71
Ggt Deficiency 57 12 20 73
Gtg Deficiency 57 12 20 73
Gamma-Glutamyl Transpeptidase Deficiency 12 58 15
Gamma-Glutamyltranspeptidase Deficiency 57 20 73
Glutathioninuria 57 13 39
Gamma-Glutamyl Transferase Deficiency 12 58
Ggt1 Deficiency 12 20
Gluth 73

Characteristics:

Orphanet epidemiological data:

58
gamma-glutamyl transpeptidase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on a report of two turkish siblings (last curated june 2018)


HPO:

31
glutathionuria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111257
OMIM® 57 231950
SNOMED-CT 67 78586005
ICD10 via Orphanet 33 E72.8
UMLS via Orphanet 72 C0268524
Orphanet 58 ORPHA33573
MedGen 41 C0268524
UMLS 71 C0268524

Summaries for Glutathionuria

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 33573DefinitionA disorder that is characterized by increased glutathione concentration in the plasma and urine.EpidemiologyGamma-glutamyl transpeptidase deficiency has been detected in seven patients in five families worldwide.Clinical descriptionFive of the patients also had central nervous system involvement.EtiologyGamma-glutamyl transpeptidase catalyses the first step in the degradation of glutathione. No mutations have been identified in patients with gamma-glutamyl transpeptidase deficiency.Diagnostic methodsThe diagnosis is based on the finding of glutathionuria, elevated levels of glutathione in plasma and decreased activity of gamma-glutamyl transpeptidase in nucleated cells.Genetic counselingAs the disease is transmitted as an autosomal recessive trait, patients should be offered genetic counseling.Management and treatmentNo specific treatment has been proposed or tested.PrognosisThe prognosis of gamma-glutamyl transpeptidase deficiency is hard to predict as only seven patients have been described worldwide.Visit the Orphanet disease page for more resources.

MalaCards based summary : Glutathionuria, also known as gamma-glutamyltransferase deficiency, is related to gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to and marfan syndrome. An important gene associated with Glutathionuria is GGT1 (Gamma-Glutamyltransferase 1), and among its related pathways/superpathways are Metabolism and Cytochrome P450 - arranged by substrate type. Related phenotypes are tremor and strabismus

Disease Ontology : 12 An amino acid metabolic disorder characterized by accumulation of glutathione in the plasma and urine that has material basis in homozygous or compound heterozygous mutation in GGT1 on 22q11.23.

UniProtKB/Swiss-Prot : 73 Glutathionuria: A very rare, autosomal recessive metabolic disorder characterized by the presence of glutathione in the urine, due to generalized gamma- glutamyl transpeptidase deficiency. Most patients manifest mild to moderate mental retardation, and behavioral disturbance. Seizures, tremor, marfanoid features and strabismus are observed in some patients.

Wikipedia : 74 Glutathionuria is the presence of glutathione in the urine, and is a rare inborn error of... more...

More information from OMIM: 231950

Related Diseases for Glutathionuria

Graphical network of the top 20 diseases related to Glutathionuria:



Diseases related to Glutathionuria

Symptoms & Phenotypes for Glutathionuria

Human phenotypes related to Glutathionuria:

31
# Description HPO Frequency HPO Source Accession
1 tremor 31 very rare (1%) HP:0001337
2 strabismus 31 very rare (1%) HP:0000486
3 intellectual disability 31 HP:0001249
4 abnormality of metabolism/homeostasis 31 HP:0001939

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
mental retardation, mild to moderate
tremor (in some patients)

Growth Other:
marfanoid features (in some patients)

Head And Neck Eyes:
strabismus (in some patients)

Laboratory Abnormalities:
gamma-glutamyltranspeptidase deficiency
glutathionemia
glutathionuria

Clinical features from OMIM®:

231950 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Glutathionuria according to GeneCards Suite gene sharing:

26 (show all 38)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 10.51 ADSL
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-115 10.51 ADSL
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 10.51 ADSL
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-128 10.51 GGT2 GGTLC2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-143 10.51 GGT2 GGTLC2 GGT1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 10.51 ADSL
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-169 10.51 GGT1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.51 GGT1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 10.51 ADSL
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 10.51 ADSL
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-192 10.51 ADSL
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10.51 GGT2 GGTLC2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.51 ADSL
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-37 10.51 ADSL
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.51 ADSL
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-57 10.51 ADSL
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-67 10.51 ADSL
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-7 10.51 GGT2 GGTLC2 GGT1
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 10.51 ADSL
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 10.51 ADSL
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-74 10.51 ADSL
22 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.68 SLC15A2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.68 SLC15A2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.68 GGT2 GGTLC2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.68 GGT2 GGTLC2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.68 SLC15A2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-14 9.68 SLC15A2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.68 SLC15A2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.68 SLC15A2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.68 GGT2 GGTLC2
31 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.68 GGT2 GGTLC2
32 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.68 SLC15A2
33 Increased shRNA abundance (Z-score > 2) GR00366-A-40 9.68 SLC15A2
34 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.68 SLC15A2
35 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.68 SLC15A2
36 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.68 GGT2 GGTLC2
37 Increased shRNA abundance (Z-score > 2) GR00366-A-62 9.68 GGT2 GGTLC2
38 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.68 SLC15A2

Drugs & Therapeutics for Glutathionuria

Search Clinical Trials , NIH Clinical Center for Glutathionuria

Cochrane evidence based reviews: glutathionuria

Genetic Tests for Glutathionuria

Anatomical Context for Glutathionuria

Publications for Glutathionuria

Articles related to Glutathionuria:

(show all 13)
# Title Authors PMID Year
1
γ-glutamyl transpeptidase deficiency caused by a large homozygous intragenic deletion in GGT1. 57 6 61
29483667 2018
2
Siblings with gamma-glutamyltransferase deficiency. 61 57
7623451 1995
3
Glutathionuria: inborn error of metabolism due to tissue deficiency of gamma-glutamyl transpeptidase. 61 57
238530 1975
4
Inborn errors in the metabolism of glutathione. 61
17397529 2007
5
Two Japanese brothers with hereditary gamma-glutamyl transpeptidase deficiency. 61
15702405 2005
6
L-2-oxothiazolidine-4-carboxylate supplementation in murine gamma-GT deficiency. 61
12757858 2003
7
Reduced glutathione, gamma-glutamylcysteine, cysteine and gamma-glutamylglutamine in gamma-glutamyltransferase deficiency. 61
10384376 1999
8
Mice with genetic gamma-glutamyl transpeptidase deficiency exhibit glutathionuria, severe growth failure, reduced life spans, and infertility. 61
9139708 1997
9
Inhibition of gamma-glutamyl transpeptidase and induction of glutathionuria by gamma-glutamyl amino acids. 61
2873573 1986
10
Glutathionuria: gamma-glutamyl transpeptidase deficiency. 61
6118466 1980
11
Characterization and physiological function of rat renal gamma-glutamyltranspeptidase. 61
42531 1979
12
Translocation of intracellular glutathione to membrane-bound gamma-glutamyl transpeptidase as a discrete step in the gamma-glutamyl cycle: glutathionuria after inhibition of transpeptidase. 61
34150 1979
13
New aspects of glutathione metabolism and translocation in mammals. 61
45011 1979

Variations for Glutathionuria

ClinVar genetic disease variations for Glutathionuria:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GGT1 GGT1, 16.9-KB DEL/13-BP INS Indel Pathogenic 545540

Expression for Glutathionuria

Search GEO for disease gene expression data for Glutathionuria.

Pathways for Glutathionuria

Pathways related to Glutathionuria according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 PLOD3 GGTLC2 GGT7 GGT6 GGT5 GGT2
2
Show member pathways
12.81 GGTLC2 GGT7 GGT6 GGT5 GGT2 GGT1
3
Show member pathways
11.97 GGTLC2 GGT2 GGT1
4
Show member pathways
11.88 GGTLC2 GGT5 GGT2 GGT1
5
Show member pathways
11.81 GGTLC2 GGT7 GGT6 GGT5 GGT2 GGT1
6 11.77 GGTLC2 GGT2 GGT1
7
Show member pathways
11.12 GGT2 GGT1
8 10.88 GGTLC2 GGT2 GGT1
9 10.5 GGT7 GGT6 GGT5 GGT1
10 10.46 GGTLC2 GGT7 GGT6 GGT5 GGT2 GGT1

GO Terms for Glutathionuria

Cellular components related to Glutathionuria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.28 SLC15A2 RALB PLOD3 GGTLC3 GGTLC2 GGT6

Biological processes related to Glutathionuria according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.87 GGTLC3 GGTLC2 GGT7 GGT6 GGT5 GGT2
2 spermatogenesis GO:0007283 9.84 GGT7 GGT5 GGT2 GGT1
3 protein phosphopantetheinylation GO:0018215 9.83 PLOD3 GGT7 GGT6 GGT5 GGT1
4 translation GO:0006412 9.81 GGT7 GGT5 GGT2 GGT1
5 response to lipopolysaccharide GO:0032496 9.78 GGT7 GGT5 GGT2 GGT1
6 response to estradiol GO:0032355 9.71 GGT7 GGT5 GGT2 GGT1
7 glutathione metabolic process GO:0006749 9.67 GGT7 GGT6 GGT5 GGT1
8 cellular amino acid metabolic process GO:0006520 9.56 GGT5 GGT1
9 response to tumor necrosis factor GO:0034612 9.56 GGT7 GGT5 GGT2 GGT1
10 zymogen activation GO:0031638 9.55 GGT2 GGT1
11 glutathione biosynthetic process GO:0006750 9.55 GGT7 GGT6 GGT5 GGT1 GGCT
12 leukotriene metabolic process GO:0006691 9.52 GGT5 GGT1
13 regulation of immune system process GO:0002682 9.49 GGT2 GGT1
14 peptide modification GO:0031179 9.46 GGT2 GGT1
15 glutathione catabolic process GO:0006751 9.43 GGTLC3 GGTLC2 GGT7 GGT5 GGT2 GGT1
16 leukotriene D4 biosynthetic process GO:1901750 9.17 GGTLC3 GGTLC2 GGT7 GGT6 GGT5 GGT2

Molecular functions related to Glutathionuria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring acyl groups GO:0016746 9.67 GGT7 GGT6 GGT5 GGT1
2 leukotriene C4 gamma-glutamyl transferase activity GO:0103068 9.56 GGT7 GGT6 GGT5 GGT1
3 hypoglycin A gamma-glutamyl transpeptidase activity GO:0102953 9.46 GGT7 GGT6 GGT5 GGT1
4 leukotriene-C(4) hydrolase GO:0002951 9.32 GGT5 GGT1
5 peptidyltransferase activity GO:0000048 9.26 GGT7 GGT5 GGT2 GGT1
6 glutathione hydrolase activity GO:0036374 9.17 GGTLC3 GGTLC2 GGT7 GGT6 GGT5 GGT2

Sources for Glutathionuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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