Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
lysosomal storage disease |
| gptkbp:affects |
gptkb:skin
gptkb:nervous_system heart kidneys alpha-galactosidase A enzyme |
| gptkbp:cause |
accumulation of globotriaosylceramide
|
| gptkbp:causedBy |
mutation in GLA gene
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:firstDescribed |
1898
|
| https://www.w3.org/2000/01/rdf-schema#label |
Fabry disease
|
| gptkbp:inheritsFrom |
X-linked recessive
|
| gptkbp:MeSH_ID |
D005176
|
| gptkbp:namedAfter |
Johannes Fabry
|
| gptkbp:OMIM |
301500
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
renal failure
stroke cardiomyopathy corneal verticillata acroparesthesia angiokeratoma hypohidrosis |
| gptkbp:treatment |
enzyme replacement therapy
chaperone therapy |
| gptkbp:bfsParent |
gptkb:Lysosomes
|
| gptkbp:bfsLayer |
6
|