Osler-Weber-Rendu syndrome

URI: https://gptkb.org/entity/Osler-Weber-Rendu_syndrome
GPTKB entity
Statements (44)
Predicate Object
gptkbp:instanceOf gptkb:disease
genetic disorder
rare disease
gptkbp:abbreviation gptkb:HHT
gptkbp:affectsOrgan gptkb:skin
brain
lungs
liver
mucous membranes
gptkbp:alsoKnownAs gptkb:Hereditary_hemorrhagic_telangiectasia
gptkbp:category gptkb:cardiovascular_disease
hematologic disease
gptkbp:complication heart failure
stroke
brain abscess
pulmonary hypertension
gptkbp:diagnosedBy genetic testing
clinical criteria
gptkbp:firstDescribed late 19th century
gptkbp:hasOrphanetID gptkb:ORPHA774
https://www.w3.org/2000/01/rdf-schema#label Osler-Weber-Rendu syndrome
gptkbp:ICD-10_code I78.0
gptkbp:inheritance autosomal dominant
gptkbp:mutationAssociatedWith gptkb:ACVRL1_gene
gptkb:ENG_gene
gptkb:SMAD4_gene
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:treatment blood transfusion
embolization
iron supplementation
laser therapy
gptkbp:bfsParent gptkb:HHT
gptkb:Rendu-Osler-Weber_disease
gptkb:hereditary_hemorrhagic_telangiectasia
gptkbp:bfsLayer 6