H00493 | |
H number | H00493 |
Name | Heparan sulfate proteoglycan gene defects |
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 |
Network | - |
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] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
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 | PMID:12042245 AUTHORS Schwartz NB, Domowicz M TITLE Chondrodysplasias due to proteoglycan defects. JOURNAL Glycobiology 12:57R-68R (2002) DOI:10.1093/glycob/12.4.57R PMID:12975604 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 PMID:15831077 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 PMID:14566439 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 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 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 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 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 PMID:10679937 (EXT1 EXT2) AUTHORS Wuyts W, Van Hul W TITLE Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. JOURNAL Hum Mutat 15:220-7 (2000) DOI:10.1002/(SICI)1098-1004(200003)15:3<220::AID-HUMU2>3.0.CO;2-K |