Statements (50)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:Genetics
|
| gptkbp:affects |
both genders
|
| gptkbp:associated_with |
gptkb:Cardiology
gptkb:depression anxiety fatigue clinical trials chronic pain patient advocacy groups hearing loss support networks hypertrophic cardiomyopathy peripheral neuropathy X-linked inheritance multisystem involvement angiokeratomas hypohidrosis acroparesthesia quality of life impact progressive disease decreased sweating life expectancy reduction |
| gptkbp:characterized_by |
deficiency of alpha-galactosidase A
|
| gptkbp:complications |
stroke
heart failure renal failure gastrointestinal issues corneal opacities |
| gptkbp:diagnosis |
genetic testing
biopsy |
| gptkbp:discovered_by |
William Fabry
|
| gptkbp:first_described_by |
1940s
|
| gptkbp:genetic_studies |
mutations in GLA gene
|
| https://www.w3.org/2000/01/rdf-schema#label |
Fabry-like syndromes
|
| gptkbp:premiered_on |
childhood or adolescence
|
| gptkbp:prevalence |
rare
|
| gptkbp:related_to |
gptkb:Fabry_disease
|
| gptkbp:research_focus |
gptkb:gene_therapy
new medications symptom management |
| gptkbp:symptoms |
skin rash
heart issues kidney problems pain in hands and feet |
| gptkbp:treatment |
gptkb:Biology
pain management heart surgery kidney dialysis |
| gptkbp:bfsParent |
gptkb:Fabry_disease
|
| gptkbp:bfsLayer |
5
|