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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Fabry disease
Summary
- Synonym
-
- Alpha-galactosidase A deficiency
- Angiokeratoma Corporis Diffusum
- Fabry Disease, Cardiac Variant
- Fabry's disease
- alpha galactosidase deficiency
- deficiency of melibiase
- Definition
- A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.
- Super Class
- sphingolipidosis
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 51172 | NAGPA | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase | |
| 54658 | UGT1A1 | UDP glucuronosyltransferase family 1 member A1 | |
| 79153 | GDPD3 | glycerophosphodiester phosphodiesterase domain containing 3 | |
| 79158 | GNPTAB | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | |
| 84572 | GNPTG | N-acetylglucosamine-1-phosphate transferase subunit gamma |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P17050 | Alpha-N-acetylgalactosaminidase | |
| P17405 | Sphingomyelin phosphodiesterase | |
| P17931 | Galectin-3 | |
| P19320 | Vascular cell adhesion protein 1 | |
| P20933 | N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase | |
| P21589 | 5'-nucleotidase | |
| P22304 | Iduronate 2-sulfatase | |
| P22309 | UDP-glucuronosyltransferase 1A1 | |
| P35247 | Pulmonary surfactant-associated protein D | |
| P35475 | Alpha-L-iduronidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000083 | Renal insufficiency |
| HP:0000091 | Abnormal renal tubule morphology |
| HP:0000093 | Proteinuria |
| HP:0000100 | Nephrotic syndrome |
| HP:0000112 | Nephropathy |
| HP:0000179 | Thick lower lip vermilion |
| HP:0000280 | Coarse facial features |
| HP:0000365 | Hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000518 | Cataract |
