KEGG   DISEASE: Treacher Collins syndromeHelp
Entry
H00610                      Disease                                

Name
Treacher Collins syndrome
Description
Treacher Collins syndrome (TCS) is a rare congenital birth disorder characterized by severe craniofacial defects. Autosomal dominant TCS1 and TCS2 are caused by mutations in the TCOF1 and POLR1D genes, respectively. Autosomal recessive TCS3 is caused by mutations in the POLR1C gene. The majority of TCS cases are caused by a mutation in TCOF1 gene which encodes a putative nucleolar phosphoprotein known as treacle. It has suggested that treacle is involved in the production of ribosomal RNA within cells. POLR1C and POLR1D encode subunits present in RNA polymerase I and III. Both of these polymerases are involved in ribosomal RNA transcription.
Category
Congenital disorder of development; Ribosomopathy
Brite
Human diseases [BR:br08402]
 Other congenital disorders
  Ribosomopathies
   H00610  Treacher Collins syndrome
Human diseases in ICD-10 classification [BR:br08403]
 17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
  Q65-Q79  Congenital malformations and deformations of the musculoskeletal system
   Q75  Craniosynostosis
    H00610  Treacher Collins syndrome
BRITE hierarchy
Pathway
hsa03008 Ribosome biogenesis in Eukaryotes  
 
 
Gene
(TCS1) TCOF1 [HSA:6949] [KO:K14562]
(TCS2) POLR1D [HSA:9533] [KO:K03027]
(TCS3) POLR1C [HSA:51082] [KO:K03020]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
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
Reference
  Authors
Sakai D, Trainor PA
  Title
Treacher Collins syndrome: unmasking the role of Tcof1/treacle.
  Journal
Int J Biochem Cell Biol 41:1229-32 (2009)
DOI:10.1016/j.biocel.2008.10.026
Reference
  Authors
Gonzales B, Henning D, So RB, Dixon J, Dixon MJ, Valdez BC
  Title
The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation.
  Journal
Hum Mol Genet 14:2035-43 (2005)
DOI:10.1093/hmg/ddi208
Reference
  Authors
Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH, Peters DJ, Boers AC, Daumer-Haas C, Maiwald R, Zweier C, Kerr B, Cobo AM, Toral JF, Hoogeboom AJ, Lohmann DR, Hehr U, Dixon MJ, Breuning MH, Wieczorek D
  Title
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher  Collins syndrome.
  Journal
Nat Genet 43:20-2 (2011)
DOI:10.1038/ng.724

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