GLUTH
MCID: GLT014
MIFTS: 25

Glutathionuria (GLUTH) malady

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Glutathionuria

Aliases & Descriptions for Glutathionuria:

Name: Glutathionuria 54 50 56 66
Gamma-Glutamyltranspeptidase Deficiency 50 66
Gamma-Glutamyltransferase Deficiency 50 69
Gamma-Glutamyl Transpeptidase Deficiency 56
Ggt1 Deficiency 50
Ggt Deficiency 50
Gtg Deficiency 50
Gluth 66

Characteristics:

Orphanet epidemiological data:

56
gamma-glutamyl transpeptidase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

HPO:

32
glutathionuria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Inborn errors of metabolism


External Ids:

OMIM 54 231950
Orphanet 56 ORPHA33573
ICD10 via Orphanet 34 E72.8
MedGen 40 C0268524

Summaries for Glutathionuria

UniProtKB/Swiss-Prot : 66 Glutathionuria: Autosomal recessive disease.

MalaCards based summary : Glutathionuria, also known as gamma-glutamyltranspeptidase deficiency, is related to hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency and collagenoma, familial cutaneous, and has symptoms including intellectual disability and abnormality of metabolism/homeostasis. 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 Glutathione metabolism.

Wikipedia : 71 Glutathionuria is the presence of glutathione in the urine, and is a rare inborn error of... more...

Description from OMIM: 231950

Related Diseases for Glutathionuria

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

id Related Disease Score Top Affiliating Genes
1 hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 11.5
2 collagenoma, familial cutaneous 9.8 GGT1 GGT6
3 infertility 9.8

Symptoms & Phenotypes for Glutathionuria

Symptoms by clinical synopsis from OMIM:

231950

Clinical features from OMIM:

231950

Human phenotypes related to Glutathionuria:

32
id Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 abnormality of metabolism/homeostasis 32 HP:0001939

Drugs & Therapeutics for Glutathionuria

Search Clinical Trials , NIH Clinical Center for Glutathionuria

Genetic Tests for Glutathionuria

Anatomical Context for Glutathionuria

Publications for Glutathionuria

Articles related to Glutathionuria:

id Title Authors Year
1
Mice with genetic gamma-glutamyl transpeptidase deficiency exhibit glutathionuria, severe growth failure, reduced life spans, and infertility. ( 9139708 )
1997
2
Inhibition of gamma-glutamyl transpeptidase and induction of glutathionuria by gamma-glutamyl amino acids. ( 2873573 )
1986
3
Glutathionuria: gamma-glutamyl transpeptidase deficiency. ( 6118466 )
1980
4
Translocation of intracellular glutathione to membrane-bound gamma-glutamyl transpeptidase as a discrete step in the gamma-glutamyl cycle: glutathionuria after inhibition of transpeptidase. ( 34150 )
1979
5
Glutathionuria: inborn error of metabolism due to tissue deficiency of gamma-glutamyl transpeptidase. ( 238530 )
1975

Variations for Glutathionuria

Expression for Glutathionuria

Search GEO for disease gene expression data for Glutathionuria.

Pathways for Glutathionuria

GO Terms for Glutathionuria

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

id Name GO ID Score Top Affiliating Genes
1 anchored component of external side of plasma membrane GO:0031362 8.62 GGT1 GGT6

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

id Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.32 GGT1 GGT6
2 glutathione metabolic process GO:0006749 9.26 GGT1 GGT6
3 leukotriene biosynthetic process GO:0019370 9.16 GGT1 GGT6
4 glutathione biosynthetic process GO:0006750 8.96 GGT1 GGT6
5 glutathione catabolic process GO:0006751 8.62 GGT1 GGT6

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

id Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring acyl groups GO:0016746 9.16 GGT1 GGT6
2 gamma-glutamyltransferase activity GO:0003840 8.96 GGT1 GGT6
3 glutathione hydrolase activity GO:0036374 8.62 GGT1 GGT6

Sources for Glutathionuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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