Rendu-Osler-Weber disease

URI: https://gptkb.org/entity/Rendu-Osler-Weber_disease
GPTKB entity
Statements (36)
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