エントリ 名称 オスラー病;
概要 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.
カテゴリ 先天奇形
階層分類 ICD-11 による疾患分類 [BR:jp08403 ]jp08402 ]jp08407.html ] BRITE hierarchy パスウェイ hsa04060 Cytokine-cytokine receptor interaction
ネットワーク 病因遺伝子 リンク 文献 著者 Brouillard P, Vikkula M
タイトル Genetic causes of vascular malformations.
雑誌 文献 著者 Wang QK
タイトル Update on the molecular genetics of vascular anomalies.
雑誌 文献 著者 Shovlin CL
タイトル Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment.
雑誌 文献 著者 Dupuis-Girod S, Bailly S, Plauchu H
タイトル Hereditary hemorrhagic telangiectasia: from molecular biology to patient care.
雑誌 文献 著者 McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, Helmbold EA, Markel DS, McKinnon WC, Murrell J, et al.
タイトル Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1.
雑誌 文献 著者 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
タイトル Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.
雑誌 文献 著者 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
タイトル BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia.
雑誌 文献 著者 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
タイトル SMAD4 mutations found in unselected HHT patients.
雑誌 LinkDB All DBs
