Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
gptkb:hereditary_transthyretin_amyloidosis |
| gptkbp:affectsOrgan |
heart
gastrointestinal tract kidneys eyes nerves |
| gptkbp:alternativeName |
gptkb:familial_amyloid_cardiomyopathy
gptkb:familial_amyloid_polyneuropathy hereditary ATTR amyloidosis |
| gptkbp:causedBy |
mutation in TTR gene
|
| gptkbp:hasBiomarker |
gptkb:transthyretin
|
| gptkbp:hasGeneticTest |
TTR gene sequencing
|
| gptkbp:hasOrphanetID |
ORPHA:85473
|
| https://www.w3.org/2000/01/rdf-schema#label |
hATTR amyloidosis
|
| gptkbp:ICD-10_code |
E85.1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
105210
|
| gptkbp:onset |
adulthood
|
| gptkbp:prevalence |
rare
|
| gptkbp:prognosis |
progressive
|
| gptkbp:riskFactor |
family history
|
| gptkbp:symptom |
gptkb:carpal_tunnel_syndrome
autonomic dysfunction polyneuropathy cardiomyopathy gastrointestinal symptoms |
| gptkbp:treatment |
gptkb:patisiran
gptkb:inotersen gptkb:tafamidis liver transplantation |
| gptkbp:bfsParent |
gptkb:hereditary_transthyretin_amyloidosis
|
| gptkbp:bfsLayer |
7
|