Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
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 |
|---|---|---|
| O00462 | Beta-mannosidase | |
| O00767 | Stearoyl-CoA desaturase | |
| O43451 | Maltase-glucoamylase | |
| O60502 | Protein O-GlcNAcase | |
| O95864 | Acyl-CoA 6-desaturase | |
| P04062 | Lysosomal acid glucosylceramidase | |
| P05362 | Intercellular adhesion molecule 1 | |
| P06280 | Alpha-galactosidase A | |
| P06858 | Lipoprotein lipase | |
| P07911 | Uromodulin |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001646 | Abnormal aortic valve morphology |
| HP:0001653 | Mitral regurgitation |
| HP:0001678 | Atrioventricular block |
| HP:0001681 | Angina pectoris |
| HP:0001712 | Left ventricular hypertrophy |
| HP:0001903 | Anemia |
| HP:0001945 | Fever |
| HP:0002017 | Nausea and vomiting |
| HP:0002024 | Malabsorption |
| HP:0002027 | Abdominal pain |
