Hereditary Hemorrhagic Telangiectasia (HHT)

URI: https://gptkb.org/entity/Hereditary_Hemorrhagic_Telangiectasia_(HHT)
GPTKB entity
Statements (40)
Predicate Object
gptkbp:instanceOf gptkb:genetic_disorder
gptkb:rare_disease
gptkbp:affects gptkb:circulatory_system
gptkbp:affectsOrgan brain
lungs
gastrointestinal tract
liver
gptkbp:alsoKnownAs gptkb:Osler-Weber-Rendu_syndrome
gptkbp:complication heart failure
stroke
brain abscess
pulmonary hypertension
gptkbp:diagnosedBy genetic testing
clinical criteria
gptkbp:firstDescribed gptkb:Henri_Rendu
gptkb:William_Osler
gptkb:Frederick_Parkes_Weber
gptkbp:hasOrphanetID 774
gptkbp:ICD-10_code I78.0
gptkbp:inheritance autosomal dominant
gptkbp:mutationAssociatedWith gptkb:ACVRL1_gene
gptkb:ENG_gene
gptkb:SMAD4_gene
gptkbp:OMIM 187300
gptkbp:organization Cure HHT Foundation
HHT Foundation International
gptkbp:prevalence 1 in 5,000 to 8,000 people
gptkbp:symptom gptkb:anemia
arteriovenous malformations
gastrointestinal bleeding
recurrent nosebleeds
telangiectasias
gptkbp:treatment antifibrinolytic agents
blood transfusion
embolization
iron supplementation
laser therapy
gptkbp:bfsParent gptkb:HHT2
gptkbp:bfsLayer 7
https://www.w3.org/2000/01/rdf-schema#label Hereditary Hemorrhagic Telangiectasia (HHT)