Hematology · Hematology / Vascular disorders
Hereditary hemorrhagic telangiectasia
also: Osler–Weber–Rendu syndrome
Inherited vascular dysplasia with epistaxis, telangiectasias and visceral arteriovenous malformations.
- Specialty
- Hematology
- Subspecialty
- Hematology / Vascular disorders
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, epistaxis in childhood
- Gene(s) involved
- ACVRL1, ENG, GDF2, SMAD4
- Alternative names & eponyms
- Osler–Weber–Rendu syndrome
Etiology & mechanism
Impaired BMP9/10–ALK1–endoglin signaling.
Gene(s) involved (4)
Symptoms & signs (6)
In plain terms, someone with Hereditary hemorrhagic telangiectasia may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
Loading…
Loading…