Rendu-Osler-Weber disease

URI: https://gptkb.org/entity/Rendu-Osler-Weber_disease

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:disease gptkb:hereditary_hemorrhagic_telangiectasia
gptkbp:affectedGene	gptkb:ENG gptkb:ACVRL1 gptkb:SMAD4
gptkbp:alsoKnownAs	gptkb:Osler-Weber-Rendu_syndrome gptkb:hereditary_hemorrhagic_telangiectasia
gptkbp:causedBy	gptkb:genetic_disorder
gptkbp:complication	heart failure stroke brain abscess
gptkbp:diagnosedBy	genetic testing clinical criteria
gptkbp:field	gptkb:medicine genetics hematology
gptkbp:firstDescribed	gptkb:William_Osler gptkb:Frederick_Parkes_Weber gptkb:Henri_Jules_Louis_Marie_Rendu
gptkbp:ICD-10_code	I78.0
gptkbp:inheritance	autosomal dominant
gptkbp:OMIM	187300
gptkbp:prevalence	1 in 5,000 to 8,000 people
gptkbp:symptom	gptkb:anemia arteriovenous malformations gastrointestinal bleeding recurrent nosebleeds telangiectasia
gptkbp:treatment	antifibrinolytic agents blood transfusion embolization iron supplementation laser therapy
gptkbp:bfsParent	gptkb:Osler's_disease
gptkbp:bfsLayer	5
https://www.w3.org/2000/01/rdf-schema#label	Rendu-Osler-Weber disease