KEGG   DISEASE: Cornelia de Lange syndromeHelp
Entry
H00631                      Disease                                

Name
Cornelia de Lange syndrome
Description
Cornelia de Lange syndrome (CdLS) is a heterogeneous developmental disorder characterized by facial dysmorphia, upper limb defects, hirsutism, and gastrointestinal abnormalities. About 65% of patients harbor mutations in genes that encode subunits or regulators of the cohesin complex, including NIPBL, SMC1A, SMC3, RAD21, and HDAC8.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00631  Cornelia de Lange syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H00631  Cornelia de Lange syndrome
BRITE hierarchy
Pathway
hsa04110  Cell cycle
hsa04114  Oocyte meiosis
Gene
NIPBL [HSA:25836] [KO:K06672]
SMC1A [HSA:8243] [KO:K06636]
SMC3 [HSA:9126] [KO:K06669]
RAD21 [HSA:5885] [KO:K06670]
HDAC8 [HSA:55869] [KO:K11405]
Other DBs
ICD-11: LD2F.1Y
ICD-10: Q87.1
MeSH: D003635
OMIM: 122470 300590 610759 614701 300882
Reference
PMID:19793304 (gene, desription)
  Authors
Liu J, Krantz ID
  Title
Cornelia de Lange syndrome, cohesin, and beyond.
  Journal
Clin Genet 76:303-14 (2009)
DOI:10.1111/j.1399-0004.2009.01271.x
Reference
  Authors
Mannini L, Liu J, Krantz ID, Musio A
  Title
Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.
  Journal
Hum Mutat 31:5-10 (2010)
DOI:10.1002/humu.21129
Reference
  Authors
Revenkova E, Focarelli ML, Susani L, Paulis M, Bassi MT, Mannini L, Frattini A, Delia D, Krantz I, Vezzoni P, Jessberger R, Musio A
  Title
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.
  Journal
Hum Mol Genet 18:418-27 (2009)
DOI:10.1093/hmg/ddn369
Reference
  Authors
Ratajska M, Wierzba J, Pehlivan D, Xia Z, Brundage EK, Cheung SW, Stankiewicz P, Lupski JR, Limon J
  Title
Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL.
  Journal
Eur J Med Genet 53:378-82 (2010)
DOI:10.1016/j.ejmg.2010.08.002
Reference
  Authors
Deardorff MA, Wilde JJ, Albrecht M, Dickinson E, Tennstedt S, Braunholz D, Monnich M, Yan Y, Xu W, Gil-Rodriguez MC, Clark D, Hakonarson H, Halbach S, Michelis LD, Rampuria A, Rossier E, Spranger S, Van Maldergem L, Lynch SA, Gillessen-Kaesbach G, Ludecke HJ, Ramsay RG, McKay MJ, Krantz ID, Xu H, Horsfield JA, Kaiser FJ
  Title
RAD21 mutations cause a human cohesinopathy.
  Journal
Am J Hum Genet 90:1014-27 (2012)
DOI:10.1016/j.ajhg.2012.04.019
Reference
  Authors
Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, Saitoh K, Komata M, Katou Y, Clark D, Cole KE, De Baere E, Decroos C, Di Donato N, Ernst S, Francey LJ, Gyftodimou Y, Hirashima K, Hullings M, Ishikawa Y, Jaulin C, Kaur M, Kiyono T, Lombardi PM, Magnaghi-Jaulin L, Mortier GR, Nozaki N, Petersen MB, Seimiya H, Siu VM, Suzuki Y, Takagaki K, Wilde JJ, Willems PJ, Prigent C, Gillessen-Kaesbach G, Christianson DW, Kaiser FJ, Jackson LG, Hirota T, Krantz ID, Shirahige K
  Title
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
  Journal
Nature 489:313-7 (2012)
DOI:10.1038/nature11316
Reference
  Authors
Yuan B, Pehlivan D, Karaca E, Patel N, Charng WL, Gambin T, Gonzaga-Jauregui C, Sutton VR, Yesil G, Bozdogan ST, Tos T, Koparir A, Koparir E, Beck CR, Gu S, Aslan H, Yuregir OO, Al Rubeaan K, Alnaqeb D, Alshammari MJ, Bayram Y, Atik MM, Aydin H, Geckinli BB, Seven M, Ulucan H, Fenercioglu E, Ozen M, Jhangiani S, Muzny DM, Boerwinkle E, Tuysuz B, Alkuraya FS, Gibbs RA, Lupski JR
  Title
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
  Journal
J Clin Invest 125:636-51 (2015)
DOI:10.1172/JCI77435

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