Properties (42)
| Predicate | Object |
|---|---|
| gptkbp:associated_with |
gptkb:cardiomyopathy
stroke hearing loss renal failure neuropathy gastrointestinal issues angiokeratomas corneal opacities hypohidrosis acroparesthesia |
| gptkbp:causedBy |
gptkb:Fabry_disease
|
| gptkbp:clinicalTrials |
gene therapy trials
enzyme replacement therapy trials new drug trials |
| gptkbp:demographics |
1 in 40,000 to 1 in 117,000 males
1 in 20,000 to 1 in 50,000 females |
| gptkbp:diseaseResistance |
genetic testing
varies by severity early diagnosis improves outcomes lifespan may be affected |
| gptkbp:geneticDiversity |
recommended
|
| https://www.w3.org/2000/01/rdf-schema#label |
mutation in the GLA gene
|
| gptkbp:impact |
pain management
enzyme replacement therapy heart transplant kidney transplant |
| gptkbp:research_focus |
gene therapy
substrate reduction therapy pharmacological chaperones |
| gptkbp:riskManagement |
age
family history gender ethnicity |
| gptkbp:screenings |
newborn screening
carrier testing family testing |
| gptkbp:symptoms |
physical therapy
psychological support dietary changes |
| gptkbp:type |
deletion
insertion point mutation |