KEGG DISEASE: Hereditary hemorrhagic telangiectasia

KEGG

DISEASE: Hereditary hemorrhagic telangiectasia

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. It has been reported that mutations in SMAD4 cause the combined juvenile polyposis and HHT (JPHT) syndrome.

Category

Congenital malformation

Brite

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
    LA90  Structural developmental anomalies of the peripheral vascular system
     H00533  Hereditary hemorrhagic telangiectasia
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06507  TGFB signaling
   H00533  Hereditary hemorrhagic telangiectasia

Pathway

TGF-beta signaling pathway

Cytokine-cytokine receptor interaction

Network

nt06507 TGFB signaling

Gene

(HHT1) ENG [HSA:2022] [KO:K06526]
(HHT2) ACVRL1 [HSA:94] [KO:K13594]
(HHT5) GDF2 [HSA:2658] [KO:K05503]
(JPHT) SMAD4 [HSA:4089] [KO:K04501]

Other DBs

ICD-11:

MeSH:

OMIM:

187300 600376 615506 175050

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

PMID:7894484 (HHT1)

Authors

McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, Helmbold EA, Markel DS, McKinnon WC, Murrell J, et al.

Title

Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1.

Journal

Nat Genet 8:345-51 (1994)
DOI:10.1038/ng1294-345

Reference

PMID:8640225 (HHT2)

Authors

Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ, Stenzel TT, Speer M, Pericak-Vance MA, Diamond A, Guttmacher AE, Jackson CE, Attisano L, Kucherlapati R, Porteous ME, Marchuk DA

Title

Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.

Journal

Nat Genet 13:189-95 (1996)
DOI:10.1038/ng0696-189

Reference

PMID:23972370 (HHT5)

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

Reference

PMID:16613914 (JPHT)

Authors

Gallione CJ, Richards JA, Letteboer TG, Rushlow D, Prigoda NL, Leedom TP, Ganguly A, Castells A, Ploos van Amstel JK, Westermann CJ, Pyeritz RE, Marchuk DA

Title

SMAD4 mutations found in unselected HHT patients.

Journal

J Med Genet 43:793-7 (2006)
DOI:10.1136/jmg.2006.041517

LinkDB

» Japanese version

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