KEGG   DISEASE: Coffin-Lowry syndrome
Entry
H00574                      Disease                                

Name
Coffin-Lowry syndrome
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 malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00574  Coffin-Lowry syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H00574  Coffin-Lowry syndrome
Pathway
hsa04010  MAPK signaling pathway
hsa04114  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-11: LD2F.1Y
ICD-10: Q87.8
MeSH: D038921
OMIM: 303600
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)
DOI:10.1038/ejhg.2009.189
Reference
  Authors
Ropers HH, Hamel BC
  Title
X-linked mental retardation.
  Journal
Nat Rev Genet 6:46-57 (2005)
DOI:10.1038/nrg1501
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