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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
External Links
- Disease Ontology
- DOID:0111257
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60568 | Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 | |
| P19440 | Glutathione hydrolase 1 proenzyme |
- The Human Phenotype Ontology
| 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 |
