KEGG   DISEASE: Treacher Collins syndromeHelp
H00610                      Disease                                

Treacher Collins syndrome
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.
Congenital disorder of development; Ribosomopathy
Human diseases [BR:br08402]
 Other congenital disorders
   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
hsa03008 Ribosome biogenesis in Eukaryotes  
(TCS1) TCOF1 [HSA:6949] [KO:K14562]
(TCS2) POLR1D [HSA:9533] [KO:K03027]
(TCS3) POLR1C [HSA:51082] [KO:K03020]
Other DBs
Freed EF, Bleichert F, Dutca LM, Baserga SJ
When ribosomes go bad: diseases of ribosome biogenesis.
Mol Biosyst 6:481-93 (2010)
Sakai D, Trainor PA
Treacher Collins syndrome: unmasking the role of Tcof1/treacle.
Int J Biochem Cell Biol 41:1229-32 (2009)
Gonzales B, Henning D, So RB, Dixon J, Dixon MJ, Valdez BC
The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation.
Hum Mol Genet 14:2035-43 (2005)
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
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher  Collins syndrome.
Nat Genet 43:20-2 (2011)

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