Glutathione Synthetase Deficiency (GSSD)

Alias:
Glutathione Synthetase Deficiency with 5-Oxoprolinuria
Gluthathione Synthetase Deficiency
Pyroglutamic Aciduria
5-Oxoprolinuria
Pyroglutamicaciduria
Deficiency of Glutathione Synthetase
Deficiency of Glutathione Synthase
5-Oxoprolinase Deficiency
Pyroglutamic Acidemia
5-Oxoprolinemia
Gss Deficiency
Gssd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Glutathione Synthetase Deficiency, also known as gluthathione synthetase deficiency, is related to hemolytic anemia and bilirubin metabolic disorder, and has symptoms including abdominal pain, diarrhea and vomiting. An important gene associated with Glutathione Synthetase Deficiency is GSS (Glutathione Synthetase), and among its related pathways/superpathways are Metabolism and Metapathway biotransformation Phase I and II. Affiliated tissues include brain and neutrophil, and related phenotypes are hemolytic anemia and abnormality of immune system physiology
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
<1/1000000
13
67
30

Medical Symptom

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

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

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PMID
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IF
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