familial amyloid polyneuropathy
GPTKB entity
Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
gptkb:hereditary_amyloidosis |
| gptkbp:affects |
heart
gastrointestinal tract autonomic nervous system peripheral nerves |
| gptkbp:alsoKnownAs |
gptkb:FAP
|
| gptkbp:category |
gptkb:genetic_disorder
gptkb:muscular_dystrophy |
| gptkbp:firstDescribed |
gptkb:Mário_Corino_da_Costa_Andrade
1952 |
| http://www.w3.org/2000/01/rdf-schema#label |
familial amyloid polyneuropathy
|
| gptkbp:ICD-10_code |
E85.1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:MeSH_ID |
D000686
|
| gptkbp:mutationAssociatedWith |
gptkb:TTR_gene
gptkb:transthyretin |
| gptkbp:notablePrevalenceRegion |
gptkb:Japan
gptkb:Portugal gptkb:Sweden |
| gptkbp:OMIM |
105210
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:peripheral_neuropathy
gptkb:cardiomyopathy autonomic dysfunction gastrointestinal symptoms |
| gptkbp:treatment |
gptkb:patisiran
gptkb:inotersen gptkb:tafamidis liver transplantation |
| gptkbp:bfsParent |
gptkb:TTR_gene
|
| gptkbp:bfsLayer |
7
|