Details of Disease | DrugMAP

General Information of Disease (ID: DIS4VHAI)

Disease Name	Gamma-glutamyl transpeptidase deficiency
Synonyms	gamma-glutamyltransferase deficiency; GGT deficiency; GGT1 deficiency; GTG deficiency; gamma-glutamyltranspeptidase deficiency; glutathionuria; inborn glutathione hydrolase activity disorder; rare inborn error of glutathione hydrolase activity; inborn error of glutathione hydrolase activity; glutathioninuria
Definition	Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.
Disease Hierarchy	DISHJT9E: Inherited glutathione metabolism disease DISO5FAY: Inborn error of metabolism DIS4VHAI: Gamma-glutamyl transpeptidase deficiency
Disease Identifiers	MONDO ID MONDO_0009285 MESH ID C536836 UMLS CUI C0268524 OMIM ID 231950 MedGen ID 82813 HPO ID HP:0034586 Orphanet ID 33573 SNOMED CT ID 78586005

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
GGT1	TTZVT7O	Limited	GermlineCausalMutation	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
GGT1	DEPT1ME	Supportive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PLOD3	OTT00T7Q	Limited	Genetic Variation	[2]
GGT1	OTYDA1Z7	Supportive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	-glutamyl transpeptidase deficiency caused by a large homozygous intragenic deletion in GGT1. Eur J Hum Genet. 2018 Jun;26(6):808-817. doi: 10.1038/s41431-018-0122-6. Epub 2018 Feb 26.
2	Reduction of lysyl hydroxylase 3 causes deleterious changes in the deposition and organization of extracellular matrix.J Biol Chem. 2009 Oct 9;284(41):28204-28211. doi: 10.1074/jbc.M109.038190. Epub 2009 Aug 20.