transthyretin amyloidosis

URI: https://gptkb.org/entity/transthyretin_amyloidosis
GPTKB entity
Statements (36)
Predicate Object
gptkbp:instanceOf gptkb:disease
gptkbp:affects heart
gastrointestinal tract
peripheral nervous system
autonomic nervous system
gptkbp:alsoKnownAs gptkb:ATTR_amyloidosis
gptkbp:causedBy transthyretin protein misfolding
gptkbp:complication gptkb:arrhythmia
heart failure
renal dysfunction
gptkbp:diagnosedBy genetic testing
biopsy
imaging studies
gptkbp:firstDescribed 1952
https://www.w3.org/2000/01/rdf-schema#label transthyretin amyloidosis
gptkbp:ICD-10_code E85.1
gptkbp:inheritance autosomal dominant (hereditary form)
gptkbp:involvesProtein gptkb:transthyretin
gptkbp:OMIM 105210
gptkbp:prevalence rare
gptkbp:riskFactor age (wild-type form)
family history (hereditary form)
gptkbp:subspecies gptkb:hereditary_transthyretin_amyloidosis
gptkb:wild-type_transthyretin_amyloidosis
gptkbp:symptom gptkb:carpal_tunnel_syndrome
autonomic dysfunction
polyneuropathy
cardiomyopathy
gptkbp:treatment gptkb:patisiran
gptkb:inotersen
gptkb:tafamidis
liver transplantation
gptkbp:bfsParent gptkb:NTLA-2001
gptkb:NTLA-2002
gptkb:NTLA-5001
gptkbp:bfsLayer 6