Properties (52)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:associatedWith |
hypertrophic cardiomyopathy
stroke risk angiokeratomas corneal opacities |
| gptkbp:category |
lysosomal storage disease
|
| gptkbp:causedBy |
deficiency of the enzyme alpha-galactosidase A
|
| gptkbp:clinicalTrials |
fatigue
hearing loss cognitive impairment renal failure cardiac arrhythmias neuropathic pain progressive nature multisystem involvement gastrointestinal symptoms sweating abnormalities |
| gptkbp:demographics |
1 in 100,000 females
1 in 40,000 to 1 in 117,000 males |
| gptkbp:diseaseResistance |
genetic testing
enzyme assay |
| gptkbp:gender |
more severe in males
|
| gptkbp:geneticDiversity |
Xq22.1
|
| https://www.w3.org/2000/01/rdf-schema#label |
Anderson-Fabry disease
|
| gptkbp:impact |
pain management
enzyme replacement therapy kidney transplant can reduce life expectancy |
| gptkbp:introduced |
Fabry_in_1898
|
| gptkbp:localHistory |
may indicate risk
|
| gptkbp:manager |
regular monitoring
|
| gptkbp:nobleFamily |
X-linked inheritance
|
| gptkbp:previouslyKnownAs |
gptkb:Fabry_disease
|
| gptkbp:research |
ongoing clinical trials
|
| gptkbp:researchFocus |
biomarkers
clinical guidelines gene therapy patient quality of life patient registries awareness campaigns international collaborations therapeutic strategies support networks natural history studies long-term outcomes advancements in diagnostics new treatment modalities |
| gptkbp:screenings |
recommended for at-risk individuals
|
| gptkbp:symptoms |
skin rash
heart issues kidney problems pain in hands and feet |