Renal Tubulopathies and related disorders
Gene: GLA
Well established gene-disease association.
Deficient or absent activity of the lysosomal enzyme alpha-galactosidase A. This enzymatic defect leads to the systemic accumulation of globotriaoslyceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes of vessels, nerves, tissues, and organs throughout the body. Clinical manifestations include progressive renal failure, cardiac disease, cerebrovascular disease, small-fiber peripheral neuropathy, and skin lesions.Created: 2 Dec 2022, 12:18 a.m. | Last Modified: 2 Dec 2022, 12:18 a.m.
Panel Version: 0.16
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Fabry disease (MIM# 301500)
Publications
gene: GLA was added gene: GLA was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: GLA were set to 8878432; 30681346; 31613176 Phenotypes for gene: GLA were set to Fabry disease (MIM# 301500)