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Glutathionuria (GLUTH)

Alias:
Gamma-Glutamyltransferase Deficiency
Gamma-Glutamyl Transpeptidase Deficiency
Gamma-Glutamyl Transferase Deficiency
Glutathioninuria
Ggt Deficiency
Gtg Deficiency
Gamma-Glutamyltranspeptidase Deficiency
Ggt1 Deficiency
Gluth
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
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 Metapathway biotransformation Phase I and II. Affiliated tissues include lung and kidney, and related phenotypes are intellectual disability and hyperreflexia
Related ID：
MALACARDS：GLT014
OMIM：231950
MESH：C536836

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
10
42
3
GLT014

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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