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Osler-Weber-Rendu syndrome 2; hereditary hemorrhagic telangiectasia type 2 (HHT2, ORW2)
Pathology:
- multisystemic vascular dysplasia
Genetics:
1) autosomal dominant
2) may be caused by mutations in the ACVRLK1 gene
Clinical manifestations:
1) recurrent epistaxis
2) mucocutaneous telangiectases
3) gastrointestinal hemorrhage
4) pulmonary, cerebral & hepatic arteriovenous malformations
Related
Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangiectasia type 1)
General
genetic disease of the skin (genodermatosis)
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 600376
References
OMIM :accession 600376