KEGG   DISEASE: H00561Help
Entry
H00561                      Disease                                

Name
Brachydacytly-mental retardation syndrome and Smith-Magenis syndrome
Description
Brachydactyly mental retardation syndrome (BDMR), also known as Albright hereditary osteodystrophy-like syndrome, is a complex disorder characterized by brachymetaphalangia and mental retardation including autism spectrum disorder. Smith-Magenis syndrome (SMS) is associated with skeletal anomalies and variable mental retardation. Individuals with these two disorders have very similar features. Mutation of the BDMR-causative gene HDAC4 results in reduced expression of RAI1, whose haploinsufficiency leads to SMS.
Category
Skeletal dysplasia
BRITE hierarchy
Gene
(brachydacytly-mental retardation) HDAC4 [HSA:9759] [KO:K11406]
(Smith-Magenis) RAI1 [HSA:10743]
Comment
For Albright hereditary osteodystrophy, see H00501.
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:20691407 (description, gene)
  Authors
Williams SR, Aldred MA, Der Kaloustian VM, Halal F, Gowans G, McLeod DR, Zondag S, Toriello HV, Magenis RE, Elsea SH
  Title
Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.
  Journal
Am J Hum Genet 87:219-28 (2010)
Reference
PMID:7847374 (description, gene)
  Authors
Wilson LC, Leverton K, Oude Luttikhuis ME, Oley CA, Flint J, Wolstenholme J, Duckett DP, Barrow MA, Leonard JV, Read AP, et al.
  Title
Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like  syndrome localized to 2q37.
  Journal
Am J Hum Genet 56:400-7 (1995)
Reference
PMID:18231123 (description, gene)
  Authors
Elsea SH, Girirajan S
  Title
Smith-Magenis syndrome.
  Journal
Eur J Hum Genet 16:412-21 (2008)

» Japanese version

DBGET integrated database retrieval system