| H00493 | |
| H番号 | H00493 |
| 名称 | ヘパラン硫酸プロテオグリカン異常 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | 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 |
| 文献 | PMID:12042245 著者 Schwartz NB, Domowicz M タイトル Chondrodysplasias due to proteoglycan defects. 雑誌 Glycobiology 12:57R-68R (2002) DOI:10.1093/glycob/12.4.57R PMID:12975604 著者 Hassell J, Yamada Y, Arikawa-Hirasawa E タイトル Role of perlecan in skeletal development and diseases. 雑誌 Glycoconj J 19:263-7 (2002) DOI:10.1023/A:1025340215261 PMID:15831077 著者 Farach-Carson MC, Hecht JT, Carson DD タイトル Heparan sulfate proteoglycans: key players in cartilage biology. 雑誌 Crit Rev Eukaryot Gene Expr 15:29-48 (2005) DOI:10.1615/critreveukaryotgeneexpr.v15.i1.30 PMID:14566439 著者 Elcioglu NH, Gustavson KH, Wilkie AO, Yuksel-Apak M, Spranger JW タイトル Recessive omodysplasia: five new cases and review of the literature. 雑誌 Pediatr Radiol 34:75-82 (2004) DOI:10.1007/s00247-003-1064-9 PMID:11279527 (DDSH) 著者 Arikawa-Hirasawa E, Wilcox WR, Le AH, Silverman N, Govindraj P, Hassell JR, Yamada Y タイトル Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene. 雑誌 Nat Genet 27:431-4 (2001) DOI:10.1038/86941 PMID:16927315 (SJS1) 著者 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 タイトル Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome. 雑誌 Hum Mutat 27:1082-91 (2006) DOI:10.1002/humu.20388 PMID:8589713 (SGBS1) 著者 Pilia G, Hughes-Benzie RM, MacKenzie A, Baybayan P, Chen EY, Huber R, Neri G, Cao A, Forabosco A, Schlessinger D タイトル Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. 雑誌 Nat Genet 12:241-7 (1996) DOI:10.1038/ng0396-241 PMID:19481194 (OMOD1) 著者 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 タイトル Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. 雑誌 Am J Hum Genet 84:760-70 (2009) DOI:10.1016/j.ajhg.2009.05.002 PMID:10679937 (EXT1 EXT2) 著者 Wuyts W, Van Hul W タイトル Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. 雑誌 Hum Mutat 15:220-7 (2000) DOI:10.1002/(SICI)1098-1004(200003)15:3<220::AID-HUMU2>3.0.CO;2-K |