| H00533 | |
| H number | H00533 |
| 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 |
| 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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LA90.00 ICD-10: I78.0 MeSH: D013683 OMIM: 187300 600376 615506 175050 |
| Reference | PMID:17670762 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 PMID:16379592 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 PMID:20870325 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 PMID:20345718 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 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 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 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 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 |