Hereditary hemorrhagic telangiectasia (HHT)

Hereditary hemorrhagic telangiectasia (HHT) 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.

Developmental disorder; Vascular diseases

ENG [HSA:2022] [KO:K06526]
ACVRL1 [HSA:94] [KO:K13594]
SMAD4 [HSA:4089] [KO:K04501]

PMID:17670762 (description)

Brouillard P, Vikkula M

Genetic causes of vascular malformations.

Hum Mol Genet 16 Spec No. 2:R140-9 (2007)

PMID:16379592 (description)

Wang QK

Update on the molecular genetics of vascular anomalies.

Lymphat Res Biol 3:226-33 (2005)

PMID:20870325 (gene)

Shovlin CL

Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment.

Blood Rev 24:203-19 (2010)

PMID:20345718 (gene)

Dupuis-Girod S, Bailly S, Plauchu H

Hereditary hemorrhagic telangiectasia: from molecular biology to patient care.

J Thromb Haemost 8:1447-56 (2010)