Hereditary Hemorrhagic Telangiectasia type 1

URI: https://gptkb.org/entity/Hereditary_Hemorrhagic_Telangiectasia_type_1
GPTKB entity
Statements (40)
Predicate Object
gptkbp:instanceOf genetic disorder
rare disease
gptkbp:affects gptkb:skin
brain
lungs
liver
mucous membranes
blood vessels
gptkbp:alsoKnownAs gptkb:HHT1
Osler-Weber-Rendu syndrome type 1
gptkbp:complication heart failure
stroke
brain abscess
pulmonary hypertension
gptkbp:diagnosedBy genetic testing
clinical criteria
gptkbp:firstDescribed gptkb:William_Osler
1896
gptkbp:frequencyOfENGMutationsInHHT 30-50%
gptkbp:hasOrphanetID gptkb:ORPHA774
https://www.w3.org/2000/01/rdf-schema#label Hereditary Hemorrhagic Telangiectasia type 1
gptkbp:ICD-10_code I78.0
gptkbp:inheritance autosomal dominant
gptkbp:mutationAssociatedWith gptkb:ENG_gene
gptkbp:OMIM 187300
gptkbp:prevalence 1 in 5,000 to 8,000
gptkbp:relatedTo gptkb:Hereditary_Hemorrhagic_Telangiectasia_type_2
gptkb:Hereditary_Hemorrhagic_Telangiectasia_type_3
gptkb:Hereditary_Hemorrhagic_Telangiectasia_type_4
gptkbp:symptom gptkb:anemia
arteriovenous malformations
gastrointestinal bleeding
recurrent nosebleeds
telangiectasias
gptkbp:treatment supportive care
iron supplementation
laser therapy
embolization of AVMs
gptkbp:bfsParent gptkb:HHT1
gptkbp:bfsLayer 7