KEGG   DISEASE: Cenani-Lenz syndactyly syndrome
Entry
H00853                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD26  Syndromes with limb anomalies as a major feature
    H00853  Cenani-Lenz syndactyly syndrome
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06505  WNT signaling
   H00853  Cenani-Lenz syndactyly syndrome
Network
nt06505 WNT signaling
Gene
LRP4 [HSA:4038] [KO:K20051]
Other DBs
ICD-11: LD26.2
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
Reference
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
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