KEGG   DISEASE: H00494Help
Entry
H00494                      Disease                                

Name
Desbuquois syndrome;
Desbuquois dysplasia (DBQD)
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) and xylosyltransferase 1 (XYLT1) have been identified.
Category
Skeletal dysplasia
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Skeletal diseases
   H00494  Desbuquois 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
   Q78  Other osteochondrodysplasias
    H00494  Desbuquois syndrome
BRITE hierarchy
Pathway
Purine metabolism
Pyrimidine metabolism
Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate
Glycosaminoglycan biosynthesis - heparan sulfate / heparin
Gene
(DBQD1) CANT1 [HSA:124583] [KO:K12304]
(DBQD2) XYLT1 [HSA:64131] [KO:K00771]
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)
Reference
PMID:24581741 (gene)
  Authors
Bui C, Huber C, Tuysuz B, Alanay Y, Bole-Feysot C, Leroy JG, Mortier G, Nitschke P, Munnich A, Cormier-Daire V
  Title
XYLT1 mutations in Desbuquois dysplasia type 2.
  Journal
Am J Hum Genet 94:405-14 (2014)

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