Osler-Weber-Rendu disease

URI: https://gptkb.org/entity/Osler-Weber-Rendu_disease

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:disease gptkb:hereditary_hemorrhagic_telangiectasia
gptkbp:abbreviation	gptkb:HHT
gptkbp:affects	circulatory system
gptkbp:affectsOrgan	gptkb:skin brain lungs gastrointestinal tract liver
gptkbp:associatedWith	gptkb:ENG gptkb:ACVRL1 gptkb:GDF2 gptkb:SMAD4
gptkbp:causedBy	genetic disorder
gptkbp:complication	heart failure stroke brain abscess
gptkbp:firstDescribed	late 19th century
gptkbp:hasDiagnosticCriteria	gptkb:Curaçao_criteria
gptkbp:hasInheritanceRisk	50% for first-degree relatives
gptkbp:hasOrphanetID	774
https://www.w3.org/2000/01/rdf-schema#label	Osler-Weber-Rendu disease
gptkbp:ICD-10_code	I78.0
gptkbp:inheritance	autosomal dominant
gptkbp:namedAfter	gptkb:William_Osler gptkb:Frederick_Parkes_Weber gptkb:Henri_Jules_Louis_Rendu
gptkbp:OMIM	187300
gptkbp:prevalence	1 in 5,000 to 8,000
gptkbp:symptom	gptkb:anemia arteriovenous malformations gastrointestinal bleeding recurrent nosebleeds telangiectasia
gptkbp:synonym	gptkb:HHT gptkb:hereditary_hemorrhagic_telangiectasia
gptkbp:treatment	antifibrinolytic agents blood transfusion iron supplementation laser therapy
gptkbp:bfsParent	gptkb:Sir_William_Osler
gptkbp:bfsLayer	4