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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
External Links
- Disease Ontology
- DOID:14499
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P01019 | Angiotensinogen | |
| P01583 | Interleukin-1 alpha | |
| P06280 | Alpha-galactosidase A | |
| P12821 | Angiotensin-converting enzyme |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8BGZ6 | Alpha-galactosidase |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q21801 | Alpha-galactosidase |
- 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 |
