Statements (58)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:Genetics
|
| gptkbp:advocacy |
increasing awareness
|
| gptkbp:affects |
alpha-galactosidase A enzyme
|
| gptkbp:associated_with |
hypertrophic cardiomyopathy
peripheral neuropathy stroke risk angiokeratomas corneal opacities |
| gptkbp:caused_by |
mutation in the GLA gene
|
| gptkbp:clinical_trial |
ongoing
|
| gptkbp:collaborations |
between institutions.
|
| gptkbp:condition |
gptkb:Fabry-like_syndromes
gptkb:Anderson-Fabry_disease |
| gptkbp:diagnosis |
genetic testing
enzyme assay |
| gptkbp:discovery_year |
1898
|
| gptkbp:duration |
lifelong
|
| gptkbp:financial_support |
important for patients
|
| gptkbp:first_described_by |
gptkb:Johann_Fabry
|
| gptkbp:funding |
needed for advancements
|
| gptkbp:genetic_carrier |
fathers cannot be carriers
mothers can be carriers |
| gptkbp:genetic_studies |
recommended
widely available |
| https://www.w3.org/2000/01/rdf-schema#label |
Fabry disease
|
| gptkbp:inherits_from |
X-linked recessive
|
| gptkbp:is_involved_in |
gptkb:Fabry_Support_&_Information_Group
gptkb:National_Fabry_Disease_Foundation help with resources |
| gptkbp:is_tested_for |
MRI for brain health
biopsy for kidney function blood test for enzyme levels echocardiogram for heart function urine test for Gb3 |
| gptkbp:lifespan |
varies by treatment
|
| gptkbp:prevalence |
1 in 40,000 to 1 in 117,000 males
1 in 60,000 females |
| gptkbp:provides_guidance_on |
varies by region
available for management |
| gptkbp:public_awareness |
gptkb:February
increasing globally |
| gptkbp:registration |
exists for data collection
|
| gptkbp:research_focus |
gptkb:gene_therapy
symptom management strategies new enzyme replacement therapies |
| gptkbp:symptoms |
skin rashes
heart issues digestive problems kidney problems pain in hands and feet childhood to adulthood |
| gptkbp:treatment |
gptkb:Biology
varies by individual pain management heart surgery kidney dialysis |
| gptkbp:bfsParent |
gptkb:disease
|
| gptkbp:bfsLayer |
4
|