hereditary transthyretin amyloidosis

URI: https://gptkb.org/entity/hereditary_transthyretin_amyloidosis
GPTKB entity
Statements (43)
Predicate Object
gptkbp:instanceOf gptkb:disease
genetic disorder
amyloidosis
gptkbp:affects heart
gastrointestinal tract
kidneys
autonomic nervous system
peripheral nerves
gptkbp:alsoKnownAs gptkb:familial_amyloid_cardiomyopathy
gptkb:familial_amyloid_polyneuropathy
gptkb:hATTR_amyloidosis
gptkbp:category rare disease
cardiac disease
muscular dystrophy
gptkbp:cause mutation in TTR gene
gptkbp:diagnosedBy imaging
genetic testing
biopsy
gptkbp:firstDescribed 1952
gptkbp:hasOrphanetID ORPHA:85473
https://www.w3.org/2000/01/rdf-schema#label hereditary transthyretin amyloidosis
gptkbp:ICD-10_code E85.1
gptkbp:inheritance autosomal dominant
gptkbp:involvesProtein gptkb:transthyretin
gptkbp:namedAfter gptkb:transthyretin_protein
gptkbp:OMIM 105210
gptkbp:onset adulthood
gptkbp:prevalence rare
gptkbp:riskFactor family history
gptkbp:symptom gptkb:carpal_tunnel_syndrome
weight loss
autonomic dysfunction
polyneuropathy
cardiomyopathy
renal dysfunction
gastrointestinal symptoms
gptkbp:treatment gptkb:patisiran
gptkb:inotersen
gptkb:tafamidis
liver transplantation
gptkbp:bfsParent gptkb:NTLA-2001
gptkb:NTLA-2002
gptkbp:bfsLayer 6