| H00533 | |
| H番号 | H00533 |
| 名称 | オスラー病; 遺伝性出血性毛細血管拡張症 |
| 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 |
| ネットワーク | nt06507 TGFB signaling |
| 病因遺伝子 | (HHT1) ENG [HSA:2022] [KO:K06526] (HHT2) ACVRL1 [HSA:94] [KO:K13594] (HHT5) GDF2 [HSA:2658] [KO:K05503] (JPHT) SMAD4 [HSA:4089] [KO:K04501] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LA90.00 ICD-10: I78.0 MeSH: D013683 OMIM: 187300 600376 615506 175050 |
| 文献 | PMID:17670762 著者 Brouillard P, Vikkula M タイトル Genetic causes of vascular malformations. 雑誌 Hum Mol Genet 16 Spec No. 2:R140-9 (2007) DOI:10.1093/hmg/ddm211 PMID:16379592 著者 Wang QK タイトル Update on the molecular genetics of vascular anomalies. 雑誌 Lymphat Res Biol 3:226-33 (2005) DOI:10.1089/lrb.2005.3.226 PMID:20870325 著者 Shovlin CL タイトル Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment. 雑誌 Blood Rev 24:203-19 (2010) DOI:10.1016/j.blre.2010.07.001 PMID:20345718 著者 Dupuis-Girod S, Bailly S, Plauchu H タイトル Hereditary hemorrhagic telangiectasia: from molecular biology to patient care. 雑誌 J Thromb Haemost 8:1447-56 (2010) DOI:10.1111/j.1538-7836.2010.03860.x PMID:7894484 (HHT1) 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 Nat Genet 8:345-51 (1994) DOI:10.1038/ng1294-345 PMID:8640225 (HHT2) 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 Nat Genet 13:189-95 (1996) DOI:10.1038/ng0696-189 PMID:23972370 (HHT5) 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 Am J Hum Genet 93:530-7 (2013) DOI:10.1016/j.ajhg.2013.07.004 PMID:16613914 (JPHT) 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 J Med Genet 43:793-7 (2006) DOI:10.1136/jmg.2006.041517 |