KEGG DISEASE: Desbuquois syndrome

DISEASE: Desbuquois syndrome

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

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H00494  Desbuquois syndrome
Pathway-based classification of diseases [BR:br08402]
Glycan/glycoprotein metabolism
  nt06029  Glycosaminoglycan biosynthesis
   H00494  Desbuquois syndrome

Pathway

hsa00532

Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate

hsa00534

Glycosaminoglycan biosynthesis - heparan sulfate / heparin

Network

nt06029 Glycosaminoglycan biosynthesis

Gene

(DBQD1) CANT1 [HSA:124583] [KO:K12304]
(DBQD2) XYLT1 [HSA:64131] [KO:K00771]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:7977470

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)
DOI:10.1002/ajmg.1320520104

Reference

PMID:20425819

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)
DOI:10.1002/ajmg.a.33404

Reference

PMID:19853239 (DBQD1)

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)
DOI:10.1016/j.ajhg.2009.10.001

Reference

PMID:24581741 (DBQD2)

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)
DOI:10.1016/j.ajhg.2014.01.020

LinkDB

» Japanese version

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