KEGG   DISEASE: Hereditary hemorrhagic telangiectasiaHelp
Entry
H00533                      Disease                                

Name
Hereditary hemorrhagic telangiectasia;
Osler disease
Description
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.
Category
Developmental disorder; Vascular disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Vascular diseases
   H00533  Hereditary hemorrhagic telangiectasia
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the circulatory system
    Structural developmental anomaly of heart and great vessels
     LA90  Structural developmental anomalies of the peripheral vascular system
      H00533  Hereditary hemorrhagic telangiectasia
BRITE hierarchy
Pathway
hsa04350  TGF-beta signaling pathway
Gene
ENG [HSA:2022] [KO:K06526]
ACVRL1 [HSA:94] [KO:K13594]
SMAD4 [HSA:4089] [KO:K04501]
GDF2 [HSA:2658] [KO:K05503]
Other DBs
ICD-11: LA90.00
ICD-10: I78.0
MeSH: D013683
OMIM: 187300 600376 175050 615506
Reference
  Authors
Brouillard P, Vikkula M
  Title
Genetic causes of vascular malformations.
  Journal
Hum Mol Genet 16 Spec No. 2:R140-9 (2007)
DOI:10.1093/hmg/ddm211
Reference
  Authors
Wang QK
  Title
Update on the molecular genetics of vascular anomalies.
  Journal
Lymphat Res Biol 3:226-33 (2005)
DOI:10.1089/lrb.2005.3.226
Reference
  Authors
Shovlin CL
  Title
Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment.
  Journal
Blood Rev 24:203-19 (2010)
DOI:10.1016/j.blre.2010.07.001
Reference
  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)
DOI:10.1111/j.1538-7836.2010.03860.x
Reference
  Authors
Wooderchak-Donahue WL, McDonald J, O'Fallon B, Upton PD, Li W, Roman BL, Young S, Plant P, Fulop GT, Langa C, Morrell NW, Botella LM, Bernabeu C, Stevenson DA, Runo JR, Bayrak-Toydemir P
  Title
BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia.
  Journal
Am J Hum Genet 93:530-7 (2013)
DOI:10.1016/j.ajhg.2013.07.004

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