KEGG DISEASE: Coffin-Lowry syndrome

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 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-based classification of diseases [BR:br08402]
Signal transduction
  nt06526  MAPK signaling
   H00574  Coffin-Lowry syndrome

Pathway

MAPK signaling pathway

Network

nt06526 MAPK signaling

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:

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)
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

LinkDB

» Japanese version

DBGET integrated database retrieval system