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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 |
|---|---|---|---|
| 6476 | SI | sucrase-isomaltase | |
| 6515 | SLC2A3 | solute carrier family 2 member 3 | |
| 6609 | SMPD1 | sphingomyelin phosphodiesterase 1 | |
| 7357 | UGCG | UDP-glucose ceramide glucosyltransferase | |
| 7369 | UMOD | uromodulin | |
| 7412 | VCAM1 | vascular cell adhesion molecule 1 | |
| 8972 | MGAM | maltase-glucoamylase | |
| 9415 | FADS2 | fatty acid desaturase 2 | |
| 10724 | OGA | O-GlcNAcase | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UK23 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002039 | Anorexia |
| HP:0002093 | Respiratory insufficiency |
| HP:0002094 | Dyspnea |
| HP:0002097 | Emphysema |
| HP:0002321 | Vertigo |
| HP:0002326 | Transient ischemic attack |
| HP:0002376 | Developmental regression |
| HP:0002571 | Achalasia |
| HP:0002823 | Abnormal femur morphology |
| HP:0002829 | Arthralgia |
