Statements (56)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:neurodegenerative_diseases
|
| gptkbp:affects |
gptkb:Heart
gptkb:computer kidneys |
| gptkbp:associated_with |
gptkb:familial_amyloid_cardiomyopathy
gptkb:familial_amyloid_polyneuropathy |
| gptkbp:caused_by |
mutations in the transthyretin gene
|
| gptkbp:clinical_trial |
Phase 3 trials
organ dysfunction Phase 1 trials Phase 2 trials amyloid deposits progressive disease |
| gptkbp:diagnosis |
gptkb:MRI
genetic testing nerve conduction studies echocardiogram biopsy of affected tissue varies by organ involvement |
| gptkbp:first_described_by |
in the 1990s
|
| https://www.w3.org/2000/01/rdf-schema#label |
h ATTR amyloidosis
|
| gptkbp:inherits_from |
autosomal dominant
|
| gptkbp:is_involved_in |
gptkb:Amyloidosis_Foundation
AL amyloidosis support groups TTR amyloidosis support groups |
| gptkbp:premiered_on |
middle age
|
| gptkbp:prevalence |
rare disease
|
| gptkbp:public_awareness |
increased in recent years
|
| gptkbp:research |
ongoing clinical trials
|
| gptkbp:research_focus |
gptkb:gene_therapy
small molecule drugs protein misfolding |
| gptkbp:risk_factor |
age
family history gender ethnicity |
| gptkbp:symptoms |
gptkb:Cardiology
fatigue weight loss pain numbness peripheral neuropathy tingling autonomic dysfunction |
| gptkbp:treatment |
gptkb:diflunisal
gptkb:tafamidis gptkb:immunotherapy supportive care improving quality of life chemotherapy preventing complications symptom management liver transplantation disease stabilization |
| gptkbp:bfsParent |
gptkb:tafamidis
|
| gptkbp:bfsLayer |
7
|