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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 |
|---|---|---|
| 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: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 |
