KEGG   DISEASE: Heparan sulfate proteoglycan gene defects
Entry
H00493                      Disease                                
Name
Heparan sulfate proteoglycan gene defects
  Subgroup
Dyssegmental dysplasia, Silverman-Handmaker type [DS:H02155]
Schwartz-Jampel syndrome [DS:H01777]
Simpson-Golabi-Behmel syndrome, type 1 [DS:H01215]
Omodysplasia 1 [DS:H02154]
Multiple exostoses [DS:H00122]
Description
Defects in heparan sulfate proteoglycans (HSPGs), which present in cartilage, are associated with skeletal growth disorders. Mutations in either HS biosynthetic enzymes or HS proteoglycan core proteins have been reported so far.
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
    H00493  Heparan sulfate proteoglycan gene defects
   LD2Z  Multiple developmental anomalies or syndromes, unspecified
    H00493  Heparan sulfate proteoglycan gene defects
Pathway
hsa00534  Glycosaminoglycan biosynthesis - heparan sulfate / heparin
Gene
(DDSH/SJS1) HSPG2 [HSA:3339] [KO:K06255]
(SGBS1) GPC3 [HSA:2719] [KO:K08109]
(OMOD1) GPC6 [HSA:10082] [KO:K08112]
(EXT1) EXT1 [HSA:2131] [KO:K02366]
(EXT2) EXT2 [HSA:2132] [KO:K02367]
Other DBs
ICD-11: LD24.20 LD2Z
ICD-10: Q87.1 G71.1 Q87.8 Q78.6
MeSH: C537998 C537340 C537746 D005097
OMIM: 224410 255800 312870 258315 133700 133701
Reference
  Authors
Schwartz NB, Domowicz M
  Title
Chondrodysplasias due to proteoglycan defects.
  Journal
Glycobiology 12:57R-68R (2002)
DOI:10.1093/glycob/12.4.57R
Reference
  Authors
Hassell J, Yamada Y, Arikawa-Hirasawa E
  Title
Role of perlecan in skeletal development and diseases.
  Journal
Glycoconj J 19:263-7 (2002)
DOI:10.1023/A:1025340215261
Reference
  Authors
Farach-Carson MC, Hecht JT, Carson DD
  Title
Heparan sulfate proteoglycans: key players in cartilage biology.
  Journal
Crit Rev Eukaryot Gene Expr 15:29-48 (2005)
DOI:10.1615/critreveukaryotgeneexpr.v15.i1.30
Reference
  Authors
Elcioglu NH, Gustavson KH, Wilkie AO, Yuksel-Apak M, Spranger JW
  Title
Recessive omodysplasia: five new cases and review of the literature.
  Journal
Pediatr Radiol 34:75-82 (2004)
DOI:10.1007/s00247-003-1064-9
Reference
PMID:11279527 (DDSH)
  Authors
Arikawa-Hirasawa E, Wilcox WR, Le AH, Silverman N, Govindraj P, Hassell JR, Yamada Y
  Title
Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene.
  Journal
Nat Genet 27:431-4 (2001)
DOI:10.1038/86941
Reference
PMID:16927315 (SJS1)
  Authors
Stum M, Davoine CS, Vicart S, Guillot-Noel L, Topaloglu H, Carod-Artal FJ, Kayserili H, Hentati F, Merlini L, Urtizberea JA, Hammouda el-H, Quan PC, Fontaine B, Nicole S
  Title
Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome.
  Journal
Hum Mutat 27:1082-91 (2006)
DOI:10.1002/humu.20388
Reference
PMID:8589713 (SGBS1)
  Authors
Pilia G, Hughes-Benzie RM, MacKenzie A, Baybayan P, Chen EY, Huber R, Neri G, Cao A, Forabosco A, Schlessinger D
  Title
Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome.
  Journal
Nat Genet 12:241-7 (1996)
DOI:10.1038/ng0396-241
Reference
PMID:19481194 (OMOD1)
  Authors
Campos-Xavier AB, Martinet D, Bateman J, Belluoccio D, Rowley L, Tan TY, Baxova A, Gustavson KH, Borochowitz ZU, Innes AM, Unger S, Beckmann JS, Mittaz L, Ballhausen D, Superti-Furga A, Savarirayan R, Bonafe L
  Title
Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.
  Journal
Am J Hum Genet 84:760-70 (2009)
DOI:10.1016/j.ajhg.2009.05.002
Reference
PMID:10679937 (EXT1 EXT2)
  Authors
Wuyts W, Van Hul W
  Title
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.
  Journal
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