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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 |
|---|---|---|
| P08236 | Beta-glucuronidase | |
| P10253 | Lysosomal alpha-glucosidase | |
| P10619 | Lysosomal protective protein | |
| P11169 | Solute carrier family 2, facilitated glucose transporter member 3 | |
| P11413 | Glucose-6-phosphate 1-dehydrogenase | |
| P14410 | Sucrase-isomaltase, intestinal | |
| P15289 | Arylsulfatase A | |
| P15848 | Arylsulfatase B | |
| P16278 | Beta-galactosidase | |
| P16581 | E-selectin |
- 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 |
