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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
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 175 | AGA | aspartylglucosaminidase | |
| 410 | ARSA | arylsulfatase A | |
| 411 | ARSB | arylsulfatase B | |
| 427 | ASAH1 | N-acylsphingosine amidohydrolase 1 | |
| 1118 | CHIT1 | chitinase 1 | |
| 1593 | CYP27A1 | cytochrome P450 family 27 subfamily A member 1 | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 2538 | G6PC1 | glucose-6-phosphatase catalytic subunit 1 | |
| 2539 | G6PD | glucose-6-phosphate dehydrogenase | |
| 2548 | GAA | alpha glucosidase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UK23 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000524 | Conjunctival telangiectasia |
| HP:0000648 | Optic atrophy |
| HP:0000708 | Atypical behavior |
| HP:0000716 | Depression |
| HP:0000739 | Anxiety |
| HP:0000790 | Hematuria |
| HP:0000822 | Hypertension |
| HP:0000823 | Delayed puberty |
| HP:0000873 | Diabetes insipidus |
| HP:0000962 | Hyperkeratosis |
