KEGG   DISEASE: H00494Help
Entry
H00494                      Disease                                

Name
Desbuquois syndrome
Description
Desbuquois syndrome is an autosomal recessive chondrodysplasia. Highly characteristic appearance of proximal femur, called 'Swedish key', is reported in the disease. Mutations in the calcium-activated nucleotidase 1 gene (CANT1) have been identified.
Category
Skeletal dysplasia
BRITE hierarchy
Pathway
Purine metabolism
Pyrimidine metabolism
Gene
CANT1 [HSA:124583] [KO:K12304]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:7977470 (description)
  Authors
Shohat M, Lachman R, Gruber HE, Hsia YE, Golbus MS, Witt DR, Bodell A, Bryke CR, Hogge WA, Rimoin DL
  Title
Desbuquois syndrome: clinical, radiographic, and morphologic characterization.
  Journal
Am J Med Genet 52:9-18 (1994)
Reference
PMID:20425819 (gene)
  Authors
Faden M, Al-Zahrani F, Arafah D, Alkuraya FS
  Title
Mutation of CANT1 causes Desbuquois dysplasia.
  Journal
Am J Med Genet A 152A:1157-60 (2010)
Reference
PMID:19853239 (gene)
  Authors
Huber C, Oules B, Bertoli M, Chami M, Fradin M, Alanay Y, Al-Gazali LI, Ausems MG, Bitoun P, Cavalcanti DP, Krebs A, Le Merrer M, Mortier G, Shafeghati Y, Superti-Furga A, Robertson SP, Le Goff C, Muda AO, Paterlini-Brechot P, Munnich A, Cormier-Daire V
  Title
Identification of CANT1 mutations in Desbuquois dysplasia.
  Journal
Am J Hum Genet 85:706-10 (2009)

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