Details of Disease

General Information of Disease (ID: DISCBF04)

• Disease Name: Desbuquois dysplasia
• Synonyms: micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification; desbuquois syndrome; micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification; DBQD; Desbuquois dysplasia
• Definition: Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.
• Disease Hierarchy:
  DIS9SPWW: Osteochondrodysplasia
  DISYKSRF: Genetic disease
  DIS7GG31: Developmental defect during embryogenesis
  DISCBF04: Desbuquois dysplasia
• Disease Identifiers:
  MONDO ID: MONDO_0015426
  MESH ID: C535943
  UMLS CUI: C0432242
  MedGen ID: 98479
  Orphanet ID: 1425
  SNOMED CT ID: 254099008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
XYLT1	OTWQGPPY	Supportive	Autosomal recessive	[1]
FAM20B	OTOA0UYT	Limited	Autosomal recessive	[4]
CANT1	OT1TPWQR	Supportive	Autosomal recessive	[2]
CSGALNACT1	OTBML9D9	Strong	Genetic Variation	[5]

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CHST3	DEQIZP2	Strong	Genetic Variation	[2]
PGM3	DER0EN5	Strong	Genetic Variation	[3]

References

• [1] XYLT1 mutations in Desbuquois dysplasia type 2. Am J Hum Genet. 2014 Mar 6;94(3):405-14. doi: 10.1016/j.ajhg.2014.01.020. Epub 2014 Feb 27.
• [2] Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. Hum Mutat. 2012 Aug;33(8):1261-6. doi: 10.1002/humu.22104. Epub 2012 May 22.
• [3] A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.J Bone Miner Res. 2017 Sep;32(9):1853-1859. doi: 10.1002/jbmr.3173. Epub 2017 Jun 26.
• [4] A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia. Clin Genet. 2019 Jun;95(6):713-717. doi: 10.1111/cge.13530. Epub 2019 Apr 11.
• [5] Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity.Hum Mutat. 2017 Jan;38(1):34-38. doi: 10.1002/humu.23070. Epub 2016 Sep 22.