Statements (51)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affects |
heart
gastrointestinal tract liver kidneys nerves |
| gptkbp:alsoKnownAs |
gptkb:transthyretin_amyloidosis
|
| gptkbp:causedBy |
transthyretin protein misfolding
|
| gptkbp:complication |
gptkb:arrhythmia
heart failure renal dysfunction gastrointestinal symptoms |
| gptkbp:diagnosedBy |
imaging
genetic testing biopsy |
| gptkbp:firstDescribed |
1952
|
| gptkbp:hasBiomarker |
gptkb:troponin
gptkb:NT-proBNP transthyretin gene mutation (hereditary form) |
| gptkbp:hasEpidemiology |
more common in elderly
more common in men (wild-type form) |
| gptkbp:hasGeneticAlteration |
Ile68Leu
Ser77Tyr Thr60Ala Val122Ile Val30Met (common mutation in hereditary form) |
| https://www.w3.org/2000/01/rdf-schema#label |
ATTR amyloidosis
|
| gptkbp:ICD-10_code |
E85.1
|
| gptkbp:inheritance |
autosomal dominant (hereditary form)
|
| gptkbp:involvesProtein |
gptkb:transthyretin
|
| gptkbp:OMIM |
105210
|
| gptkbp:pathology |
amyloid fibril deposition
apple-green birefringence under polarized light congo red positive staining extracellular protein deposits |
| gptkbp:prevalence |
rare
|
| gptkbp:prognosis |
variable, depends on organ involvement
|
| gptkbp:riskFactor |
age (wild-type form)
family history (hereditary form) |
| gptkbp:subspecies |
gptkb:wild-type_ATTR_amyloidosis
hereditary ATTR amyloidosis |
| gptkbp:symptom |
gptkb:carpal_tunnel_syndrome
peripheral neuropathy autonomic dysfunction cardiomyopathy |
| gptkbp:treatment |
gptkb:patisiran
gptkb:inotersen gptkb:tafamidis liver transplant |
| gptkbp:bfsParent |
gptkb:transthyretin_amyloidosis
|
| gptkbp:bfsLayer |
7
|