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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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002013 | Vomiting |
| HP:0003621 | Juvenile onset |
| HP:0001155 | Abnormality of the hand |
| HP:0012332 | Abnormal autonomic nervous system physiology |
| HP:0001658 | Myocardial infarction |
| HP:0003401 | Paresthesia |
| HP:0012702 | Tenesmus |
| HP:0002380 | Fasciculations |
| HP:0002014 | Diarrhea |
| HP:0005144 | Ventricular septal hypertrophy |
