Hereditary hemorrhagic telangiectasia

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:genetic_disorder gptkb:cardiovascular_disease gptkb:rare_disease
gptkbp:affects	blood vessels
gptkbp:alsoKnownAs	gptkb:Osler-Weber-Rendu_syndrome
gptkbp:causedBy	mutation in ACVRL1 gene mutation in ENG gene mutation in SMAD4 gene
gptkbp:complication	heart failure stroke brain abscess
gptkbp:diagnosedBy	genetic testing clinical criteria
gptkbp:firstDescribed	gptkb:Henri_Rendu gptkb:William_Osler gptkb:Frederick_Parkes_Weber
gptkbp:hasDatabaseEntry	GARD:0008702 MedlinePlus:001223 Orphanet:774
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 telangiectasias
gptkbp:treatment	antifibrinolytic agents embolization iron supplementation laser therapy
gptkbp:bfsParent	gptkb:Osler-Weber-Rendu_syndrome
gptkbp:bfsLayer	7
https://www.w3.org/2000/01/rdf-schema#label	Hereditary hemorrhagic telangiectasia