| H00800 | |
| H number | H00800 |
| Name | Loeys-Dietz syndrome |
| Description | 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. |
| Category | Congenital malformation |
| Network | nt06507 TGFB signaling |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | LDS and Marfan syndrome [DS:H00653] are both genetic disorders of connective tissue and share many features. |
| Other DBs | ICD-11: LD28.01 ICD-10: I71.0 MeSH: D055947 OMIM: 609192 608967 610168 610380 613795 614816 615582 619656 |
| Reference | PMID:21785848 AUTHORS Kalra VB, Gilbert JW, Malhotra A TITLE Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings. JOURNAL Pediatr Radiol 41:1495-504 (2011) DOI:10.1007/s00247-011-2195-z PMID:18544034 AUTHORS Milewicz DM, Guo DC, Tran-Fadulu V, Lafont AL, Papke CL, Inamoto S, Kwartler CS, Pannu H TITLE Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction. JOURNAL Annu Rev Genomics Hum Genet 9:283-302 (2008) DOI:10.1146/annurev.genom.8.080706.092303 PMID:19883511 (LDS1_2) AUTHORS Drera B, Ritelli M, Zoppi N, Wischmeijer A, Gnoli M, Fattori R, Calzavara-Pinton PG, Barlati S, Colombi M TITLE Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients. JOURNAL Orphanet J Rare Dis 4:24 (2009) DOI:10.1186/1750-1172-4-24 PMID:21217753 (LDS3) AUTHORS 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 TITLE Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. JOURNAL Nat Genet 43:121-6 (2011) DOI:10.1038/ng.744 PMID:22772368 (LDS4) AUTHORS 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 TITLE Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. JOURNAL Nat Genet 44:922-7 (2012) DOI:10.1038/ng.2349 PMID:23824657 (LDS5) AUTHORS 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 TITLE 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. JOURNAL Am J Med Genet A 161A:2040-6 (2013) DOI:10.1002/ajmg.a.36056 PMID:29967133 (LDS6) AUTHORS 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 TITLE Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype. JOURNAL J Med Genet 56:220-227 (2019) DOI:10.1136/jmedgenet-2018-105304 |