Hereditary hemorrhagic telangiectasia

Definition:

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler disease, is an autosomal dominant vascular dysplasia characterized by severe recurrent nasal and gastrointestinal bleeding and cutaneomucosal telangiectases. HHT is often associated with arteriovenous malformations in the pulmonary, hepatic, cerebral, and spinal circulations. The disease arises from defects in TGF-beta signaling. It has been reported that mutations in SMAD4 cause the combined juvenile polyposis and HHT (JPHT) syndrome.

References:

[1]. C J Gallione, et al. SMAD4 mutations found in unselected HHT patients. J Med Genet. 2006 Oct;43(10):793-7. [Content Brief]

[2]. Claire L Shovlin, et al. Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment. Blood Rev. 2010 Nov;24(6):203-19. [Content Brief]

[3]. D W Johnson, et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet. 1996 Jun;13(2):189-95. [Content Brief]

[4]. K A McAllister, et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet. 1994 Dec;8(4):345-51. [Content Brief]

[5]. Pascal Brouillard, et al. Genetic causes of vascular malformations. Hum Mol Genet. 2007 Oct 15;16 Spec No. 2:R140-9. [Content Brief]

[6]. Qing K Wang, et al. Update on the molecular genetics of vascular anomalies. Lymphat Res Biol. 2005;3(4):226-33. [Content Brief]

[7]. S Dupuis-Girod, et al. Hereditary hemorrhagic telangiectasia: from molecular biology to patient care. J Thromb Haemost. 2010 Jul;8(7):1447-56. [Content Brief]

[8]. Whitney L Wooderchak-Donahue, et al. BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia. Am J Hum Genet. 2013 Sep 5;93(3):530-7. [Content Brief]

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