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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 |
|---|---|---|
| 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:0000083 | Renal insufficiency |
| HP:0000091 | Abnormal renal tubule morphology |
| HP:0000093 | Proteinuria |
| HP:0000100 | Nephrotic syndrome |
| HP:0000112 | Nephropathy |
| HP:0000179 | Thick lower lip vermilion |
| HP:0000280 | Coarse facial features |
| HP:0000365 | Hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000518 | Cataract |
