KEGG   DISEASE: H00800Help
Entry
H00800                      Disease                                

Name
Loeys-Dietz syndrome (LDS)
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 is caused by mutation in the TGFB2 gene.
Category
Developmental disorder; Cardiovascular disease
BRITE hierarchy
Pathway
MAPK signaling pathway
Cytokine-cytokine receptor interaction
Endocytosis
TGF-beta signaling pathway
Osteoclast differentiation
Hippo signaling pathway
Adherens junction
Gene
(LDS 1A/2A) TGFBR1 [HSA:7046] [KO:K04674]
(LDS 1B/2B) TGFBR2 [HSA:7048] [KO:K04388]
(LDS3) SMAD3 [HSA:4088] [KO:K04500]
(LDS4) TGFB2 [HSA:7042] [KO:K13376]
Comment
LDS and Marfan syndrome [DS:H00653] are both genetic disorders of connective tissue and share many features.
Other DBs
Reference
  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)
Reference
  Authors
Kalra VB, Gilbert JW, Malhotra A
  Title
Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings.
  Journal
Pediatr Radiol 41:1495-504 (2011)
Reference
  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)
Reference
  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)
Reference
  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)

» Japanese version

DBGET integrated database retrieval system