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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 |
|---|---|---|---|
| 2581 | GALC | galactosylceramidase | |
| 2629 | GBA1 | glucosylceramidase beta 1 | |
| 2632 | GBE1 | 1,4-alpha-glucan branching enzyme 1 | |
| 2717 | GLA | galactosidase alpha | |
| 2720 | GLB1 | galactosidase beta 1 | |
| 2990 | GUSB | glucuronidase beta | |
| 3383 | ICAM1 | intercellular adhesion molecule 1 | |
| 3423 | IDS | iduronate 2-sulfatase | |
| 3425 | IDUA | alpha-L-iduronidase | |
| 3958 | LGALS3 | galectin 3 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UK23 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003077 | Hyperlipidemia |
| HP:0003119 | Abnormal circulating lipid concentration |
| HP:0003326 | Myalgia |
| HP:0004306 | Abnormal endocardium morphology |
| HP:0004322 | Short stature |
| HP:0004349 | Reduced bone mineral density |
| HP:0006510 | Chronic pulmonary obstruction |
| HP:0007957 | Corneal opacity |
| HP:0011675 | Arrhythmia |
| HP:0011710 | Bundle branch block |
