hereditary hemorrhagic telangiectasia

URI: https://gptkb.org/entity/hereditary_hemorrhagic_telangiectasia

GPTKB entity

Statements (73)

Predicate	Object
gptkbp:instanceOf	genetic disorder rare disease
gptkbp:abbreviation	gptkb:HHT
gptkbp:affects	gptkb:skin gastrointestinal tract blood vessels upper airway
gptkbp:alsoKnownAs	gptkb:Osler-Weber-Rendu_syndrome
gptkbp:alternativeName	gptkb:C1_esterase_inhibitor_deficiency gptkb:HAE hereditary_angioedema
gptkbp:canBeFatal	yes
gptkbp:causedBy	gptkb:C1_inhibitor_deficiency gptkb:SERPING1_gene_mutation
gptkbp:complication	heart failure stroke brain abscess asphyxiation laryngeal edema
gptkbp:diagnosedBy	genetic testing clinical criteria
gptkbp:firstDescribed	gptkb:Henri_Rendu gptkb:William_Osler gptkb:Frederick_Parkes_Weber 1888
gptkbp:frequency	variable
gptkbp:hasDiagnosticMethod	genetic testing C1 inhibitor function C4 level
gptkbp:hasOrphanetID	gptkb:ORPHA774 913
gptkbp:hasType	Type I Type II Type III
https://www.w3.org/2000/01/rdf-schema#label	hereditary hemorrhagic telangiectasia
gptkbp:ICD-10_code	gptkb:D84.1 I78.0
gptkbp:inheritance	autosomal dominant
gptkbp:mutationAssociatedWith	gptkb:ACVRL1_gene gptkb:ENG_gene gptkb:SMAD4_gene
gptkbp:OMIM	187300 106100
gptkbp:onset	childhood adolescence
gptkbp:prevalence	1 in 5,000 to 8,000 people 1 in 50,000
gptkbp:prognosis	good with treatment
gptkbp:riskFactor	family history
gptkbp:symptom	gptkb:anemia airway obstruction abdominal pain arteriovenous malformations gastrointestinal bleeding recurrent nosebleeds telangiectasia recurrent swelling
gptkbp:treatment	gptkb:androgens gptkb:C1_inhibitor_concentrate gptkb:ecallantide gptkb:icatibant gptkb:tranexamic_acid blood transfusion embolization iron supplementation laser therapy
gptkbp:triggeredBy	gptkb:trauma stress infection hormonal changes
gptkbp:bfsParent	gptkb:Osler's_disease gptkb:Osler-Weber-Rendu_disease
gptkbp:bfsLayer	5