| H00800 | |
| H番号 | H00800 |
| 名称 | Loeys-Dietz 症候群 |
| 概要 | Loeys-Dietz syndrome (LDS) is an autosomal dominant disorder characterized by arterial aneurysms and dissections, pectus excavatum, craniosynostosis, cleft palate, congenital heart disease, and thin, translucent skin. LDS results from mutations in the TGF beta receptor genes. LDS has been subdivided in LDS1 and LDS2 on the basis of the presence or the absence of craniofacial involvement, respectively. LDS3 is associated with early-onset osteoarthritis and caused by mutation in the SMAD3 gene. LDS4 and LDS5 are caused by mutation in the TGFB2 and TGFB3 gene, respectively. |
| カテゴリ | 先天奇形 |
| ネットワーク | nt06507 TGFB signaling |
| 病因遺伝子 | (LDS1A/2A) TGFBR1 [HSA:7046] [KO:K04674] (LDS1B/2B) TGFBR2 [HSA:7048] [KO:K04388] (LDS3) SMAD3 [HSA:4088] [KO:K23605] (LDS4) TGFB2 [HSA:7042] [KO:K13376] (LDS5) TGFB3 [HSA:7043] [KO:K13377] (LDS6) SMAD2 [HSA:4087] [KO:K04500] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | LDS and Marfan syndrome [DS:H00653] are both genetic disorders of connective tissue and share many features. |
| リンク | ICD-11: LD28.01 ICD-10: I71.0 MeSH: D055947 OMIM: 609192 608967 610168 610380 613795 614816 615582 619656 |
| 文献 | PMID:21785848 著者 Kalra VB, Gilbert JW, Malhotra A タイトル Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings. 雑誌 Pediatr Radiol 41:1495-504 (2011) DOI:10.1007/s00247-011-2195-z PMID:18544034 著者 Milewicz DM, Guo DC, Tran-Fadulu V, Lafont AL, Papke CL, Inamoto S, Kwartler CS, Pannu H タイトル Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction. 雑誌 Annu Rev Genomics Hum Genet 9:283-302 (2008) DOI:10.1146/annurev.genom.8.080706.092303 PMID:19883511 (LDS1_2) 著者 Drera B, Ritelli M, Zoppi N, Wischmeijer A, Gnoli M, Fattori R, Calzavara-Pinton PG, Barlati S, Colombi M タイトル Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients. 雑誌 Orphanet J Rare Dis 4:24 (2009) DOI:10.1186/1750-1172-4-24 PMID:21217753 (LDS3) 著者 van de Laar IM, Oldenburg RA, Pals G, Roos-Hesselink JW, de Graaf BM, Verhagen JM, Hoedemaekers YM, Willemsen R, Severijnen LA, Venselaar H, Vriend G, Pattynama PM, Collee M, Majoor-Krakauer D, Poldermans D, Frohn-Mulder IM, Micha D, Timmermans J, Hilhorst-Hofstee Y, Bierma-Zeinstra SM, Willems PJ, Kros JM, Oei EH, Oostra BA, Wessels MW, Bertoli-Avella AM タイトル Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. 雑誌 Nat Genet 43:121-6 (2011) DOI:10.1038/ng.744 PMID:22772368 (LDS4) 著者 Lindsay ME, Schepers D, Bolar NA, Doyle JJ, Gallo E, Fert-Bober J, Kempers MJ, Fishman EK, Chen Y, Myers L, Bjeda D, Oswald G, Elias AF, Levy HP, Anderlid BM, Yang MH, Bongers EM, Timmermans J, Braverman AC, Canham N, Mortier GR, Brunner HG, Byers PH, Van Eyk J, Van Laer L, Dietz HC, Loeys BL タイトル Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. 雑誌 Nat Genet 44:922-7 (2012) DOI:10.1038/ng.2349 PMID:23824657 (LDS5) 著者 Rienhoff HY Jr, Yeo CY, Morissette R, Khrebtukova I, Melnick J, Luo S, Leng N, Kim YJ, Schroth G, Westwick J, Vogel H, McDonnell N, Hall JG, Whitman M タイトル A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome. 雑誌 Am J Med Genet A 161A:2040-6 (2013) DOI:10.1002/ajmg.a.36056 PMID:29967133 (LDS6) 著者 Cannaerts E, Kempers M, Maugeri A, Marcelis C, Gardeitchik T, Richer J, Micha D, Beauchesne L, Timmermans J, Vermeersch P, Meyten N, Chenier S, van de Beek G, Peeters N, Alaerts M, Schepers D, Van Laer L, Verstraeten A, Loeys B タイトル Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype. 雑誌 J Med Genet 56:220-227 (2019) DOI:10.1136/jmedgenet-2018-105304 |