Hereditary Hemorrhagic Telangiectasia (HHT)
GPTKB entity
Statements (40)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
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
|
| https://www.w3.org/2000/01/rdf-schema#label |
Hereditary Hemorrhagic Telangiectasia (HHT)
|
| 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
|