Statements (59)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:Genetics
|
| gptkbp:advocacy |
important for patient support
|
| gptkbp:associated_with |
gptkb:Fabry_disease
|
| gptkbp:breeding_range |
Xq22.1
|
| gptkbp:caused_by |
deficiency of alpha-galactosidase A
|
| gptkbp:clinical_trial |
ongoing
for new therapies angiokeratomas corneal verticillata hypohidrosis acroparesthesia |
| gptkbp:complications |
hearing loss
neuropathy gastrointestinal issues corneal opacities |
| gptkbp:condition |
gptkb:Cardiology
stroke renal failure |
| gptkbp:diagnosis |
clinical evaluation
enzyme assay biochemical testing molecular genetic testing |
| gptkbp:financial_support |
available through organizations
|
| gptkbp:first_described_by |
in 1898
by Johannes Fabry |
| gptkbp:gender_disparity |
more severe in males
|
| gptkbp:genetic_studies |
recommended for families
|
| gptkbp:historical_context |
part of lysosomal storage disorders
|
| https://www.w3.org/2000/01/rdf-schema#label |
Anderson-Fabry disease
|
| gptkbp:inherits_from |
X-linked inheritance
|
| gptkbp:is_involved_in |
available for patients
|
| gptkbp:lifespan |
varies by severity
|
| gptkbp:management |
multidisciplinary approach
|
| gptkbp:patient_prognosis |
depends on early diagnosis
improves with treatment |
| gptkbp:prevalence |
varies by region
1 in 100,000 females 1 in 40,000 to 1 in 117,000 males |
| gptkbp:promoter |
GLA
|
| gptkbp:public_awareness |
increased in recent years
important for early detection |
| gptkbp:research_focus |
gptkb:gene_therapy
new enzyme replacement therapies |
| gptkbp:research_institutes |
involved in studies
|
| gptkbp:screenings |
genetic testing
family history |
| gptkbp:symptoms |
skin rash
important for quality of life heart issues kidney problems pain in hands and feet |
| gptkbp:treatment |
gptkb:Biology
pain management pain relief medications kidney transplant cardiac care |
| gptkbp:type |
lysosomal storage disorder
|
| gptkbp:bfsParent |
gptkb:Fabry_disease
|
| gptkbp:bfsLayer |
5
|