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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 |
|---|---|---|
| P08236 | Beta-glucuronidase | |
| P10253 | Lysosomal alpha-glucosidase | |
| P10619 | Lysosomal protective protein | |
| P11169 | Solute carrier family 2, facilitated glucose transporter member 3 | |
| P11413 | Glucose-6-phosphate 1-dehydrogenase | |
| P14410 | Sucrase-isomaltase, intestinal | |
| P15289 | Arylsulfatase A | |
| P15848 | Arylsulfatase B | |
| P16278 | Beta-galactosidase | |
| P16581 | E-selectin |
- 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 |
