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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 |
|---|---|---|---|
| 4023 | LPL | lipoprotein lipase | |
| 4047 | LSS | lanosterol synthase | |
| 4126 | MANBA | mannosidase beta | |
| 4668 | NAGA | alpha-N-acetylgalactosaminidase | |
| 4907 | NT5E | 5'-nucleotidase ecto | |
| 5476 | CTSA | cathepsin A | |
| 5730 | PTGDS | prostaglandin D2 synthase | |
| 6319 | SCD | stearoyl-CoA desaturase | |
| 6401 | SELE | selectin E | |
| 6441 | SFTPD | surfactant protein D |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P17050 | Alpha-N-acetylgalactosaminidase | |
| P17405 | Sphingomyelin phosphodiesterase | |
| P17931 | Galectin-3 | |
| P19320 | Vascular cell adhesion protein 1 | |
| P20933 | N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase | |
| P21589 | 5'-nucleotidase | |
| P22304 | Iduronate 2-sulfatase | |
| P22309 | UDP-glucuronosyltransferase 1A1 | |
| P35247 | Pulmonary surfactant-associated protein D | |
| P35475 | Alpha-L-iduronidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012378 | Fatigue |
| HP:0100543 | Cognitive impairment |
| HP:0100579 | Mucosal telangiectasiae |
| HP:0100585 | Telangiectasia of the skin |
| HP:0100820 | Glomerulopathy |
| HP:0001071 | Angiokeratoma corporis diffusum |
| HP:0003394 | Muscle spasm |
| HP:0002018 | Nausea |
| HP:0006536 | Airway obstruction |
| HP:0001419 | X-linked recessive inheritance |
