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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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000966 | Hypohidrosis |
| HP:0001004 | Lymphedema |
| HP:0001014 | Angiokeratoma |
| HP:0001131 | Corneal dystrophy |
| HP:0001250 | Seizure |
| HP:0001369 | Arthritis |
| HP:0001482 | Subcutaneous nodule |
| HP:0001635 | Congestive heart failure |
| HP:0001637 | Abnormal myocardium morphology |
| HP:0001639 | Hypertrophic cardiomyopathy |
