KEGG   DISEASE: H00574Help
Entry
H00574                      Disease                                

Name
Coffin-Lowry syndrome (CLS)
Description
Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation, which is characterized in male patients by psychomotor and growth retardation and various skeletal anomalies. Typical facial changes and specific clinical and radiological signs in the hand are useful aids in the diagnosis. Mutations in the RSK2 (RPS6KA3) gene cause CLS. The RPS6KA3 gene encodes RSK2 that is involved with signaling within cells.
Category
Congenital disorder; Mental retardation
BRITE hierarchy
Pathway
MAPK signaling pathway
Oocyte meiosis
Gene
RPS6KA3 [HSA:6197] [KO:K04373]
Comment
Mutation in the RPS6KA3 gene can also cause nonsyndromic X-linked mental retardation-19.
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Pereira PM, Schneider A, Pannetier S, Heron D, Hanauer A
  Title
Coffin-Lowry syndrome.
  Journal
Eur J Hum Genet 18:627-33 (2010)
Reference
  Authors
Ropers HH, Hamel BC
  Title
X-linked mental retardation.
  Journal
Nat Rev Genet 6:46-57 (2005)

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