KEGG   DISEASE: H00506Help
Entry
H00506                      Disease                                

Name
Osteogenesis imperfecta
Description
Osteogenesis imperfecta is characterized by an inherited bone fragility caused by mutations in type I collagen. Poor teeth development, blue sclerae and hearing impairment also manifest in indivisuals with osteogenesis imperfecta. Mutations in the other genes have been recently identified.
Category
Skeletal dysplasia
BRITE hierarchy
Gene
(type I, II, III, IV) COL1A1 [HSA:1277] [KO:K06236]
(type I, II, III, IV) COL1A2 [HSA:1278] [KO:K06236]
(type V) IFITM5 [HSA:387733] [KO:K06566]
(type VI) SERPINF1 [HSA:5176]
(type VII) CRTAP [HSA:10491]
(type VIII) LEPRE1 [HSA:64175] [KO:K08134]
(type IX) PPIB [HSA:5479] [KO:K03768]
(typeX) SERPINH1 [HSA:871] [KO:K09501]
(type XI) FKBP10 [HSA:60681] [KO:K09575]
(type XII) SP7 [HSA:121340] [KO:K09197]
(type XIII) BMP1 [HSA:649] [KO:K05502]
Other DBs
Reference
PMID:20855225 (description, gene)
  Authors
Michou L, Brown JP
  Title
Genetics of bone diseases: Paget's disease, fibrous dysplasia, osteopetrosis, and osteogenesis imperfecta.
  Journal
Joint Bone Spine 78:252-8 (2011)
Reference
PMID:19878741 (description, gene)
  Authors
Van Dijk FS, Pals G, Van Rijn RR, Nikkels PG, Cobben JM
  Title
Classification of Osteogenesis Imperfecta revisited.
  Journal
Eur J Med Genet 53:1-5 (2010)
Reference
PMID:10885578 (gene)
  Authors
McIntosh I, Bellus GA, Jab EW
  Title
The pleiotropic effects of fibroblast growth factor receptors in mammalian development.
  Journal
Cell Struct Funct 25:85-96 (2000)
Reference
  Authors
Cho TJ, Lee KE, Lee SK, Song SJ, Kim KJ, Jeon D, Lee G, Kim HN, Lee HR, Eom HH, Lee ZH, Kim OH, Park WY, Park SS, Ikegawa S, Yoo WJ, Choi IH, Kim JW
  Title
A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.
  Journal
Am J Hum Genet 91:343-8 (2012)
Reference
  Authors
Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Koerber F, Zimmermann K, de Vries P, Wirth B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, Netzer C
  Title
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.
  Journal
Am J Hum Genet 88:362-71 (2011)
Reference
  Authors
Christiansen HE, Schwarze U, Pyott SM, AlSwaid A, Al Balwi M, Alrasheed S, Pepin MG, Weis MA, Eyre DR, Byers PH
  Title
Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.
  Journal
Am J Hum Genet 86:389-98 (2010)
Reference
  Authors
Barnes AM, Cabral WA, Weis M, Makareeva E, Mertz EL, Leikin S, Eyre D, Trujillo C, Marini JC
  Title
Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.
  Journal
Hum Mutat 33:1589-98 (2012)
Reference
  Authors
Lapunzina P, Aglan M, Temtamy S, Caparros-Martin JA, Valencia M, Leton R, Martinez-Glez V, Elhossini R, Amr K, Vilaboa N, Ruiz-Perez VL
  Title
Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.
  Journal
Am J Hum Genet 87:110-4 (2010)
Reference
  Authors
Asharani PV, Keupp K, Semler O, Wang W, Li Y, Thiele H, Yigit G, Pohl E, Becker J, Frommolt P, Sonntag C, Altmuller J, Zimmermann K, Greenspan DS, Akarsu NA, Netzer C, Schonau E, Wirth R, Hammerschmidt M, Nurnberg P, Wollnik B, Carney TJ
  Title
Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish.
  Journal
Am J Hum Genet 90:661-74 (2012)

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