KEGG   DISEASE: H00631Help
Entry
H00631                      Disease                                

Name
Cornelia de Lange syndrome (CdLS)
Description
Cornelia de Lange syndrome (CdLS) is a heterogeneous developmental disorder characterized by facial dysmorphia, upper limb defects, hirsutism, and gastrointestinal abnormalities. Mutations in the cohesion proteins NIPBL, SMC1A and SMC3 are present in CdLS patients.
Category
Developmental disorder; Skeletal dysplasia
BRITE hierarchy
Pathway
Cell cycle
Oocyte meiosis
Gene
NIPBL [HSA:25836] [KO:K06672]
SMC1A [HSA:8243] [KO:K06636]
SMC3 [HSA:9126] [KO:K06669]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
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)
Reference
PMID:19842212 (gene)
  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)
Reference
PMID:18996922 (gene)
  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)
Reference
PMID:20727427 (gene)
  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)

» Japanese version

DBGET integrated database retrieval system