Properties (60)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:advertising |
increased in recent years
conducted by health organizations |
| gptkbp:advocacy |
patient organizations active
|
| gptkbp:associatedWith |
hypertrophic cardiomyopathy
stroke risk angiokeratomas corneal opacities |
| gptkbp:causedBy |
gptkb:mutation_in_the_GLA_gene
|
| gptkbp:clinicalTrials |
ongoing for new treatments
progressive nature variable expressivity multisystem involvement |
| gptkbp:community_service |
lyso-Gb3
|
| gptkbp:complications |
peripheral neuropathy
renal failure cardiac arrhythmias cerebrovascular disease |
| gptkbp:demographics |
1 in 40,000 to 1 in 117,000 males
1 in 60,000 females |
| gptkbp:diseaseResistance |
genetic testing
enzyme assay |
| gptkbp:geneticDiversity |
X-linked inheritance
recommended for affected families |
| gptkbp:hasCapacity |
available for coping strategies
|
| gptkbp:healthcare |
more common in males
underdiagnosed in females |
| gptkbp:historicalContext |
described in 1898
|
| https://www.w3.org/2000/01/rdf-schema#label |
Fabry disease
|
| gptkbp:impact |
supportive care
psychological support lifestyle modifications pain management enzyme replacement therapy kidney transplant chronic condition affects quality of life alpha-galactosidase A enzyme chaperone therapy requires lifelong management |
| gptkbp:inheritsFrom |
childhood or adolescence
|
| gptkbp:introduced |
gptkb:William_Fabry
|
| gptkbp:legalEvent |
reduced without treatment
|
| gptkbp:previouslyKnownAs |
gptkb:Anderson-Fabry_disease
|
| gptkbp:research |
ongoing clinical trials
available for diagnosis gene therapy under investigation new therapies being explored |
| gptkbp:screenings |
recommended for family members
|
| gptkbp:supports |
available for patients
|
| gptkbp:symptoms |
fatigue
hearing loss skin rash gastrointestinal issues heart issues digestive problems kidney problems pain in hands and feet sweating abnormalities decreased ability to sweat |