GLUTH
MCID: GLT014
MIFTS: 39

Glutathionuria (GLUTH)

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

Aliases & Classifications for Glutathionuria

MalaCards integrated aliases for Glutathionuria:

Name: Glutathionuria 56 12 52 58 73 43
Gamma-Glutamyltransferase Deficiency 56 52 73 6 71
Ggt Deficiency 56 12 52 73
Gtg Deficiency 56 12 52 73
Gamma-Glutamyl Transpeptidase Deficiency 12 58 15
Gamma-Glutamyltranspeptidase Deficiency 56 52 73
Glutathioninuria 56 13 39
Gamma-Glutamyl Transferase Deficiency 12 58
Ggt1 Deficiency 12 52
Gluth 73

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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 56 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

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 33573 Definition A disorder that is characterized by increased glutathione concentration in the plasma and urine. Epidemiology Gamma-glutamyl transpeptidase deficiency has been detected in seven patients in five families worldwide. Clinical description Five of the patients also had central nervous system involvement. Etiology Gamma-glutamyl transpeptidase catalyses the first step in the degradation of glutathione. No mutations have been identified in patients with gamma-glutamyl transpeptidase deficiency. Diagnostic methods The 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 counseling As the disease is transmitted as an autosomal recessive trait , patients should be offered genetic counseling. Management and treatment No specific treatment has been proposed or tested. Prognosis The 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 cataract. An important gene associated with Glutathionuria is GGT1 (Gamma-Glutamyltransferase 1), and among its related pathways/superpathways are Cytochrome P450 - arranged by substrate type and Folate Metabolism. Affiliated tissues include testes, and 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

Diseases related to Glutathionuria via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to 11.9
2 cataract 10.4
3 infertility 10.3
4 marfan syndrome 10.2
5 cystic fibrosis 10.2
6 insulin-like growth factor i 10.2
7 pulmonary fibrosis 10.2
8 pulmonary edema 10.1
9 bladder sarcoma 10.1 GGTLC2 GGT7 GGT6
10 blood group incompatibility 10.1 GGT7 GGT6
11 bile duct rhabdomyosarcoma 10.0 GGTLC3 GGT2 GGT1
12 splenic tuberculosis 10.0 GGTLC3 GGT2 GGT1
13 perforation of bile duct 10.0 GGTLC3 GGT2 GGT1
14 gallbladder papillary carcinoma 10.0 GGTLC3 GGT2 GGT1
15 immature teratoma of ovary 10.0 GGTLC3 GGT2 GGT1
16 optic nerve astrocytoma 10.0 GGTLC3 GGT2 GGT1
17 myasthenic syndrome, congenital, 3b, fast-channel 10.0 GGTLC3 GGT2 GGT1
18 suppurative cholangitis 10.0 GGTLC3 GGT2 GGT1
19 dientamoebiasis 10.0 GGTLC3 GGT2 GGT1
20 viral laryngitis 10.0 GGTLC3 GGT2 GGT1
21 acute cholangitis 10.0 GGTLC3 GGT2 GGT1
22 algoneurodystrophy 10.0 GGTLC3 GGT2 GGT1
23 bile duct cysts 10.0 GGTLC3 GGT2 GGT1
24 bile acid synthesis defect, congenital, 1 10.0 GGTLC3 GGT2 GGT1
25 common bile duct disease 10.0 GGTLC3 GGT2 GGT1
26 bile duct disease 10.0 GGTLC3 GGT2 GGT1
27 noonan syndrome 8 10.0 GGTLC3 GGT2 GGT1
28 amelogenesis imperfecta, type if 10.0 GGTLC3 GGT2 GGT1
29 familial adenomatous polyposis 2 10.0 GGTLC3 GGT2 GGT1
30 giant axonal neuropathy 1, autosomal recessive 10.0 GGTLC3 GGT2 GGT1
31 esophageal varix 9.9 GGTLC3 GGT2 GGT1
32 cataract 34, multiple types 9.9 GGTLC3 GGT2 GGT1
33 choledocholithiasis 9.9 GGTLC3 GGT2 GGT1
34 loeys-dietz syndrome 2 9.9 GGTLC3 GGT2 GGT1
35 loeys-dietz syndrome 9.9 GGTLC3 GGT2 GGT1
36 cataract 4, multiple types 9.9 GGTLC3 GGT2 GGT1
37 contractural arachnodactyly, congenital 9.9 GGTLC3 GGT2 GGT1
38 hepatic vascular disease 9.9 GGTLC3 GGT2 GGT1
39 cholestasis, progressive familial intrahepatic, 1 9.9 GGTLC3 GGT2 GGT1
40 vein disease 9.9 GGTLC3 GGT2 GGT1
41 bilirubin metabolic disorder 9.9 GGTLC3 GGT2 GGT1
42 lens disease 9.9 GGTLC3 GGT2 GGT1
43 cholangitis, primary sclerosing 9.9 GGTLC3 GGT2 GGT1
44 lipid storage disease 9.8 GGTLC3 GGT2 GGT1
45 gallbladder disease 9.8 GGTLC3 GGT2 GGT1
46 biliary tract disease 9.8 GGTLC3 GGT2 GGT1
47 alcohol use disorder 9.8 GGTLC3 GGT2 GGT1
48 recessive dystrophic epidermolysis bullosa 9.7 PLOD3 GGT1
49 distal arthrogryposis 9.7 GGTLC3 GGT2 GGT1
50 deficiency anemia 9.6 GGTLC3 GGT2 GGT1

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:

56
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

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

26 (show all 30)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-101 10.4 RASL10A
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 10.4 RASL10A
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-128 10.4 GGT2 GGTLC2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-143 10.4 GGT1 GGT2 GGTLC2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-158 10.4 RASL10A
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-169 10.4 GGT1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.4 GGT1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10.4 RASL10A
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10.4 GGT2 GGTLC2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 10.4 RASL10A
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 10.4 RASL10A
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-30 10.4 RASL10A
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-7 10.4 GGT1 GGT2 GGTLC2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.68 SLC15A2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.68 SLC15A2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.68 GGT2 GGTLC2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.68 GGT2 GGTLC2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.68 SLC15A2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-14 9.68 SLC15A2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.68 SLC15A2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.68 SLC15A2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.68 GGT2 GGTLC2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.68 GGT2 GGTLC2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.68 SLC15A2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-40 9.68 SLC15A2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.68 SLC15A2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.68 SLC15A2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.68 GGT2 GGTLC2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-62 9.68 GGT2 GGTLC2
30 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

MalaCards organs/tissues related to Glutathionuria:

40
Testes

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. 6 56 61
29483667 2018
2
Siblings with gamma-glutamyltransferase deficiency. 56 61
7623451 1995
3
Glutathionuria: inborn error of metabolism due to tissue deficiency of gamma-glutamyl transpeptidase. 56 61
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
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
12
Characterization and physiological function of rat renal gamma-glutamyltranspeptidase. 61
42531 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 INSindel 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
12.85 GGTLC2 GGT7 GGT6 GGT5 GGT2 GGT1
2
Show member pathways
11.94 GGTLC2 GGT2 GGT1
3
Show member pathways
11.94 GGTLC2 GGT7 GGT6 GGT5 GGT2 GGT1
4
Show member pathways
11.83 GGTLC2 GGT5 GGT2 GGT1
5 11.74 GGTLC2 GGT2 GGT1
6
Show member pathways
11.1 GGT2 GGT1
7 10.81 GGTLC2 GGT2 GGT1
8 10.46 GGTLC2 GGT7 GGT6 GGT5 GGT2 GGT1
9 10.3 GGT7 GGT6 GGT5 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 9.23 SLC15A2 RALB PLOD3 GGTLC3 GGTLC2 GGT6

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.91 GGTLC3 GGTLC2 GGT7 GGT6 GGT5 GGT2
2 spermatogenesis GO:0007283 9.84 GGT7 GGT5 GGT2 GGT1
3 translation GO:0006412 9.8 GGT7 GGT5 GGT2 GGT1
4 response to lipopolysaccharide GO:0032496 9.76 GGT7 GGT5 GGT2 GGT1
5 response to estradiol GO:0032355 9.71 GGT7 GGT5 GGT2 GGT1
6 glutathione metabolic process GO:0006749 9.62 GGT7 GGT6 GGT5 GGT1
7 response to tumor necrosis factor GO:0034612 9.56 GGT7 GGT5 GGT2 GGT1
8 cellular amino acid metabolic process GO:0006520 9.55 GGT5 GGT1
9 zymogen activation GO:0031638 9.52 GGT2 GGT1
10 leukotriene metabolic process GO:0006691 9.51 GGT5 GGT1
11 regulation of immune system process GO:0002682 9.48 GGT2 GGT1
12 glutathione biosynthetic process GO:0006750 9.46 GGT7 GGT6 GGT5 GGT1
13 peptide modification GO:0031179 9.43 GGT2 GGT1
14 glutathione catabolic process GO:0006751 9.43 GGTLC3 GGTLC2 GGT7 GGT5 GGT2 GGT1
15 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 GO:0016740 9.88 PLOD3 PGGT1B GGT7 GGT6 GGT5 GGT1
2 transferase activity, transferring acyl groups GO:0016746 9.67 GGT7 GGT6 GGT5 GGT1
3 leukotriene C4 gamma-glutamyl transferase activity GO:0103068 9.56 GGT7 GGT6 GGT5 GGT1
4 hypoglycin A gamma-glutamyl transpeptidase activity GO:0102953 9.46 GGT7 GGT6 GGT5 GGT1
5 leukotriene-C(4) hydrolase GO:0002951 9.32 GGT5 GGT1
6 peptidyltransferase activity GO:0000048 9.26 GGT7 GGT5 GGT2 GGT1
7 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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