H00853 | |
H number | H00853 |
Name | Cenani-Lenz syndactyly syndrome |
Description | Cenani-Lenz syndactyly syndrome (CLSS) is an autosomal-recessive congenital malformation syndrome characterized by syndactyly and/or oligodactyly and kidney anomalies. The cause of CLSS is LRP4, a low-density lipoprotein receptor that modulates Wnt signaling. |
Category | Congenital malformation |
Network | - |
Gene | LRP4 [HSA:4038] [KO:K20051] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD26.2 ICD-10: Q78.4 MeSH: C538150 OMIM: 212780 |
Reference | PMID:20381006 AUTHORS Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nurnberg G, Cenani A, Urquhart J, Chung BD, Ismail S, Amr K, Aslanger AD, Becker C, Netzer C, Scambler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nurnberg P, Herz J, Temtamy SA, Wollnik B TITLE LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. JOURNAL Am J Hum Genet 86:696-706 (2010) DOI:10.1016/j.ajhg.2010.03.004 PMID:20454682 AUTHORS Karner CM, Dietrich MF, Johnson EB, Kappesser N, Tennert C, Percin F, Wollnik B, Carroll TJ, Herz J TITLE Lrp4 regulates initiation of ureteric budding and is crucial for kidney formation--a mouse model for Cenani-Lenz syndrome. JOURNAL PLoS One 5:e10418 (2010) DOI:10.1371/journal.pone.0010418 |