| H01006 | |
| H番号 | H01006 |
| 名称 | 遺伝性血管性浮腫 |
| 概要 | Hereditary angioedema (HAE) is a rare genetic disorder, manifested by recurrent episodes of angioedema localized to the skin or mucosa of the gastrointestinal tract or larynx. The laryngeal angioedema is potentially lethal. The classic forms, HAE types I and II, result from deficiency of the plasma protease inhibitor, C1 inhibitor (C1INH). Type I HAE is caused by decreased expression of C1INH in the plasma whereas type 2 HAE, consisting approximately 15% of patients with HAE, is due to expression of a dysfunctional C1INH protein. HAE type III has been observed exclusively in women and appears to be correlated with high estrogen levels. |
| カテゴリ | 循環器系疾患 |
| ネットワーク | nt06514 Coagulation cascade |
| 病因遺伝子 | (HAE1/2) SERPING1 [HSA:710] [KO:K04001] (HAE3) F12 [HSA:2161] [KO:K01328] (HAE4) PLG [HSA:5340] [KO:K01315] (HAE5) ANGPT1 [HSA:284] [KO:K05465] (HAE6) KNG1 [HSA:3827] [KO:K03898] (HAE7) MYOF [HSA:26509] [KO:K22125] (HAE8) HS3ST6 [HSA:64711] [KO:K09679] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | イカチバント酢酸塩 [DR:D04492] ラナデルマブ [DR:D11094] ベロトラルスタット塩酸塩 [DR:D11674] 乾燥濃縮ヒトC-1インアクチベーター [DR:D08780] |
| コメント | - |
| リンク | ICD-11: 4A00.14 ICD-10: D84.1 OMIM: 106100 610618 619360 619361 619363 619366 619367 |
| 文献 | PMID:14572810 著者 Davis AE 3rd タイトル The pathogenesis of hereditary angioedema. 雑誌 Transfus Apher Sci 29:195-203 (2003) DOI:10.1016/j.transci.2003.08.012 PMID:15596403 著者 Davis AE 3rd タイトル The pathophysiology of hereditary angioedema. 雑誌 Clin Immunol 114:3-9 (2005) DOI:10.1016/j.clim.2004.05.007 PMID:17186468 著者 Cichon S, Martin L, Hennies HC, Muller F, Van Driessche K, Karpushova A, Stevens W, Colombo R, Renne T, Drouet C, Bork K, Nothen MM タイトル Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. 雑誌 Am J Hum Genet 79:1098-104 (2006) DOI:10.1086/509899 PMID:33799813 著者 Farkas H, Doczy A, Szabo E, Varga L, Csuka D タイトル Screening for Plasminogen Mutations in Hereditary Angioedema Patients. 雑誌 Genes (Basel) 12:402 (2021) DOI:10.3390/genes12030402 PMID:28601681 著者 Bafunno V, Firinu D, D'Apolito M, Cordisco G, Loffredo S, Leccese A, Bova M, Barca MP, Santacroce R, Cicardi M, Del Giacco S, Margaglione M タイトル Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema. 雑誌 J Allergy Clin Immunol 141:1009-1017 (2018) DOI:10.1016/j.jaci.2017.05.020 PMID:33114181 著者 Loules G, Parsopoulou F, Zamanakou M, Csuka D, Bova M, Gonzalez-Quevedo T, Psarros F, Porebski G, Speletas M, Firinu D, Del Giacco S, Suffritti C, Makris M, Vatsiou S, Zanichelli A, Farkas H, Germenis AE タイトル Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor. 雑誌 J Clin Med 9:E3402 (2020) DOI:10.3390/jcm9113402 PMID:34065094 著者 Santacroce R, D'Andrea G, Maffione AB, Margaglione M, d'Apolito M タイトル The Genetics of Hereditary Angioedema: A Review. 雑誌 J Clin Med 10:2023 (2021) DOI:10.3390/jcm10092023 |