KEGG   DISEASE: Bowen-Conradi syndrome (BCS)Help
Entry
H00616                      Disease                                

Name
Bowen-Conradi syndrome (BCS)
Description
Bowen-Conradi syndrome (BCS) is an autosomal-recessive disorder characterized by severely impaired prenatal and postnatal growth, profound psychomotor retardation. Most patients do not survive beyond the first year of life, as a result of complications associated with reduced mobility and failure to thrive. Recently, a missense mutation in EMG1 was reported to be the cause of BCS. EMG1 is a putative methyltransferase that is required for biogenesis of the 40S subunit of the ribosome.
Category
Congenital disorder of development; Ribosomopathy
Brite
Human diseases [BR:br08402]
 Other congenital disorders
  Ribosomopathies
   H00616  Bowen-Conradi syndrome (BCS)
Human diseases in ICD-10 classification [BR:br08403]
 17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
  Q00-Q07  Congenital malformations of the nervous system
   Q02  Microcephaly
    H00616  Bowen-Conradi syndrome (BCS)
BRITE hierarchy
Pathway
hsa03008 Ribosome biogenesis in Eukaryotes  
 
Gene
EMG1 [HSA:10436] [KO:K14568]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Armistead J, Khatkar S, Meyer B, Mark BL, Patel N, Coghlan G, Lamont RE, Liu S, Wiechert J, Cattini PA, Koetter P, Wrogemann K, Greenberg CR, Entian KD, Zelinski T, Triggs-Raine B
  Title
Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi  syndrome.
  Journal
Am J Hum Genet 84:728-39 (2009)
DOI:10.1016/j.ajhg.2009.04.017
Reference
  Authors
Freed EF, Bleichert F, Dutca LM, Baserga SJ
  Title
When ribosomes go bad: diseases of ribosome biogenesis.
  Journal
Mol Biosyst 6:481-93 (2010)
DOI:10.1039/b919670f

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