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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:0002014 | Diarrhea |
| HP:0002018 | Nausea |
| HP:0002380 | Fasciculations |
| HP:0003394 | Muscle spasm |
| HP:0003401 | Paresthesia |
| HP:0003621 | Juvenile onset |
| HP:0005144 | Ventricular septal hypertrophy |
| HP:0006536 | Airway obstruction |
| HP:0012332 | Abnormal autonomic nervous system physiology |
| HP:0012702 | Tenesmus |
