KEGG   DISEASE: H00533Help
Entry
H00533                      Disease                                

Name
Hereditary hemorrhagic telangiectasia (HHT)
Description
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.
Category
Developmental disorder; Vascular disease
BRITE hierarchy
Pathway
TGF-beta signaling pathway
Gene
ENG [HSA:2022] [KO:K06526]
ACVRL1 [HSA:94] [KO:K13594]
SMAD4 [HSA:4089] [KO:K04501]
Other DBs
ICD-10: 
OMIM: 
Reference
PMID:17670762 (description)
  Authors
Brouillard P, Vikkula M
  Title
Genetic causes of vascular malformations.
  Journal
Hum Mol Genet 16 Spec No. 2:R140-9 (2007)
Reference
PMID:16379592 (description)
  Authors
Wang QK
  Title
Update on the molecular genetics of vascular anomalies.
  Journal
Lymphat Res Biol 3:226-33 (2005)
Reference
PMID:20870325 (gene)
  Authors
Shovlin CL
  Title
Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment.
  Journal
Blood Rev 24:203-19 (2010)
Reference
PMID:20345718 (gene)
  Authors
Dupuis-Girod S, Bailly S, Plauchu H
  Title
Hereditary hemorrhagic telangiectasia: from molecular biology to patient care.
  Journal
J Thromb Haemost 8:1447-56 (2010)

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