hereditary hemorrhagic telangiectasia type 2

URI: https://gptkb.org/entity/hereditary_hemorrhagic_telangiectasia_type_2
GPTKB entity
Statements (29)
Predicate Object
gptkbp:instanceOf gptkb:genetic_disorder
gptkb:rare_disease
gptkbp:alsoKnownAs gptkb:HHT2
gptkb:Osler-Weber-Rendu_syndrome_type_2
gptkbp:associatedWith cerebral arteriovenous malformations
hepatic arteriovenous malformations
pulmonary arteriovenous malformations
gptkbp:diagnosedBy genetic testing
clinical criteria
gptkbp:firstDescribed late 19th century
gptkbp:frequencyOfNosebleeds high
gptkbp:inheritance autosomal dominant
gptkbp:locatedOnChromosome chromosome 12q13
gptkbp:mutationAssociatedWith gptkb:ACVRL1_gene
gptkbp:OMIM 600376
gptkbp:parent gptkb:hereditary_hemorrhagic_telangiectasia
gptkbp:prevalence rare
gptkbp:symptom gptkb:anemia
arteriovenous malformations
gastrointestinal bleeding
recurrent nosebleeds
telangiectasias
gptkbp:treatment supportive care
iron supplementation
embolization of AVMs
laser therapy for telangiectasias
gptkbp:bfsParent gptkb:ACVRL1
gptkbp:bfsLayer 6
https://www.w3.org/2000/01/rdf-schema#label hereditary hemorrhagic telangiectasia type 2