Hereditary Hemorrhagic Telangiectasia type 2
GPTKB entity
Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
blood vessels
|
| gptkbp:alsoKnownAs |
gptkb:HHT2
Rendu-Osler-Weber syndrome type 2 |
| gptkbp:associatedWith |
gastrointestinal bleeding
epistaxis hepatic arteriovenous malformations pulmonary arteriovenous malformations |
| gptkbp:characterizedBy |
arteriovenous malformations
recurrent nosebleeds telangiectasias |
| gptkbp:containsGene |
gptkb:ACVRL1
|
| gptkbp:diagnosedBy |
genetic testing
clinical criteria |
| gptkbp:firstDescribed |
late 19th century
|
| https://www.w3.org/2000/01/rdf-schema#label |
Hereditary Hemorrhagic Telangiectasia type 2
|
| gptkbp:ICD-10_code |
I78.0
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:ACVRL1_gene
|
| gptkbp:OMIM |
600376
|
| gptkbp:parent |
gptkb:Hereditary_Hemorrhagic_Telangiectasia
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:anemia
fatigue shortness of breath mucocutaneous telangiectasia |
| gptkbp:treatment |
supportive care
blood transfusion iron supplementation embolization of AVMs |
| gptkbp:bfsParent |
gptkb:HHT2
|
| gptkbp:bfsLayer |
7
|