| H00631 | |
| H number | H00631 |
| 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 |
| Network | nt06512 Chromosome cohesion and segregation |
| Gene | (CDLS1) NIPBL [HSA:25836] [KO:K06672] (CDLS2) SMC1A [HSA:8243] [KO:K06636] (CDLS3) SMC3 [HSA:9126] [KO:K06669] (CDLS4) RAD21 [HSA:5885] [KO:K06670] (CDLS5) HDAC8 [HSA:55869] [KO:K11405] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.1 MeSH: D003635 OMIM: 122470 300590 610759 614701 300882 |
| Reference | PMID:19793304 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 PMID:20727427 (NIPBL) 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 PMID:19842212 (SMC1A) 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 PMID:18996922 (SMC1A, SMC3) 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 PMID:22633399 (RAD21) 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 PMID:22885700 (HDAC8) 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 |