KEGG   DISEASE: Loeys-Dietz syndrome
H00800                      Disease                                

Loeys-Dietz syndrome
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.
Developmental disorder; Cardiovascular disease
Human diseases [BR:br08402]
 Cardiovascular diseases
  Vascular diseases
   H00800  Loeys-Dietz syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD28  Syndromes with connective tissue involvement as a major feature
    H00800  Loeys-Dietz syndrome
hsa04010  MAPK signaling pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa04144  Endocytosis
hsa04350  TGF-beta signaling pathway
hsa04380  Osteoclast differentiation
hsa04390  Hippo signaling pathway
hsa04520  Adherens junction
(LDS 1A/2A) TGFBR1 [HSA:7046] [KO:K04674]
(LDS 1B/2B) TGFBR2 [HSA:7048] [KO:K04388]
(LDS3) SMAD3 [HSA:4088] [KO:K23605]
(LDS4) TGFB2 [HSA:7042] [KO:K13376]
(LDS5) TGFB3 [HSA:7043] [KO:K13377]
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
Drera B, Ritelli M, Zoppi N, Wischmeijer A, Gnoli M, Fattori R, Calzavara-Pinton PG, Barlati S, Colombi M
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.
Orphanet J Rare Dis 4:24 (2009)
Kalra VB, Gilbert JW, Malhotra A
Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings.
Pediatr Radiol 41:1495-504 (2011)
Milewicz DM, Guo DC, Tran-Fadulu V, Lafont AL, Papke CL, Inamoto S, Kwartler CS, Pannu H
Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction.
Annu Rev Genomics Hum Genet 9:283-302 (2008)
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
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.
Nat Genet 43:121-6 (2011)
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
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.
Nat Genet 44:922-7 (2012)
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
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.
Am J Med Genet A 161A:2040-6 (2013)

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