Details of Disease | DrugMAP

General Information of Disease (ID: DISCUWVE)

Disease Name	Glutathione synthetase deficiency with 5-oxoprolinuria
Synonyms	5-oxoprolinuria; GSSD; pyroglutamic aciduria; glutathione synthetase deficiency
Disease Hierarchy	DISVQEGM: Inherited glutathione synthetase deficiency DISCUWVE: Glutathione synthetase deficiency with 5-oxoprolinuria
Disease Identifiers	MONDO ID MONDO_0009947 MESH ID C536835 UMLS CUI C0398746 OMIM ID 266130 MedGen ID 97988 HPO ID HP:0003343 Orphanet ID 289846 SNOMED CT ID 124706000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GSS	TTVEWR4	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
OPLAH	DEJ1LMB	Limited	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GSS	OTVSBEIW	Strong	Autosomal recessive	[1]
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References

1	Glutathione synthetase deficiency: is gamma-glutamylcysteine accumulation a way to cope with oxidative stress in cells with insufficient levels of glutathione?. J Inherit Metab Dis. 2002 Nov;25(7):577-84. doi: 10.1023/a:1022095324407.
2	Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.Mol Genet Metab. 2016 Sep;119(1-2):44-9. doi: 10.1016/j.ymgme.2016.07.008. Epub 2016 Jul 22.