gamma-glutamyl transpeptidase deficiency

Summary
Synonym
  • GGT deficiency
  • GGT1 deficiency
  • GTG deficiency
  • gamma-glutamyl transferase deficiency
  • glutathionuria
Definition
An amino acid metabolic disorder characterized by accumulation of glutathione in the plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in GGT1 on 22q11.23.
Super Class
amino acid metabolic disorder autosomal recessive disease
Disease Ontology
DOID:0111257
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2678 GGT1 gamma-glutamyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
14598 Ggt1 gamma-glutamyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
116568 Ggt1 gamma-glutamyltransferase 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
171619 C53D5.5 Gamma-glutamyltranspeptidase 1
180364 T03D8.6 Gamma-glutamyltransferase;Gamma-glutamyltranspeptidase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
851006 ECM38 gamma-glutamyltransferase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 16 in total
HPO ID HPO Term
HP:0001274 Agenesis of corpus callosum
HP:0003593 Infantile onset
HP:0000601 Hypotelorism
HP:0002075 Dysdiadochokinesis
HP:0000020 Urinary incontinence
HP:0001347 Hyperreflexia
HP:0002282 Gray matter heterotopia
HP:0001249 Intellectual disability
HP:0000007 Autosomal recessive inheritance
HP:0001337 Tremor
Displaying 1 entry
Gene ID Gene Symbol Description
2678 GGT1 gamma-glutamyltransferase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024