hereditary hemorrhagic telangiectasia type 2
GPTKB entity
Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:alsoKnownAs |
gptkb:HHT2
gptkb:Osler-Weber-Rendu_syndrome_type_2 |
| gptkbp:associatedWith |
cerebral arteriovenous malformations
hepatic arteriovenous malformations pulmonary arteriovenous malformations |
| gptkbp:diagnosedBy |
genetic testing
clinical criteria |
| gptkbp:firstDescribed |
late 19th century
|
| gptkbp:frequencyOfNosebleeds |
high
|
| https://www.w3.org/2000/01/rdf-schema#label |
hereditary hemorrhagic telangiectasia type 2
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:locatedOnChromosome |
chromosome 12q13
|
| gptkbp:mutationAssociatedWith |
gptkb:ACVRL1_gene
|
| gptkbp:OMIM |
600376
|
| gptkbp:parent |
gptkb:hereditary_hemorrhagic_telangiectasia
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:anemia
arteriovenous malformations gastrointestinal bleeding recurrent nosebleeds telangiectasias |
| gptkbp:treatment |
supportive care
iron supplementation embolization of AVMs laser therapy for telangiectasias |
| gptkbp:bfsParent |
gptkb:ACVRL1
|
| gptkbp:bfsLayer |
6
|