Osler-Weber-Rendu syndrome 2; hereditary hemorrhagic telangiectasia type 2 (HHT2, ORW2)

Pathology

• multisystemic vascular dysplasia

Genetics

• autosomal dominant
• may be caused by mutations in the ACVRLK1 gene

Clinical manifestations

• recurrent epistaxis
• mucocutaneous telangiectases
• gastrointestinal hemorrhage
• pulmonary, cerebral & hepatic arteriovenous malformations

More general terms

• genetic disease of the skin (genodermatosis)
• genetic syndrome (multisystem disorder)

Additional terms

• Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangiectasia type 1)

Database

• OMIM: https://mirror.omim.org/entry/600376