| H00758 | |
| H番号 | H00758 |
| 名称 | 進行性偽リウマチ性異形成; 進行性関節症を伴う遅延性脊椎骨端異形成 |
| 概要 | Progressive pseudorheumatoid dysplasia (PPRD) is an inherited skeletal dysplasia in which the spine is affected as in spondyloepiphyseal dysplasia tarda. There is degeneration of articular cartilage that leads to stiffness and swelling of joints. The disease is caused by mutations of the WISP3 gene. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | WISP3 [HSA:8838] [KO:K23090] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD24.3 ICD-10: Q77.7 MeSH: C535387 OMIM: 208230 |
| 文献 | PMID:9222963 著者 el-Shanti HE, Omari HZ, Qubain HI タイトル Progressive pseudorheumatoid dysplasia: report of a family and review. 雑誌 J Med Genet 34:559-63 (1997) DOI:10.1136/jmg.34.7.559 PMID:17596985 著者 Bennani L, Amine B, Ichchou L, Lazrak N, Hajjaj-Hassouni N タイトル Progressive pseudorheumatoid dysplasia: three cases in one family. 雑誌 Joint Bone Spine 74:393-5 (2007) DOI:10.1016/j.jbspin.2006.11.014 PMID:17483925 著者 Zhou HD, Bu YH, Peng YQ, Xie H, Wang M, Yuan LQ, Jiang Y, Li D, Wei QY, He YL, Xiao T, Ni JD, Liao EY タイトル Cellular and molecular responses in progressive pseudorheumatoid dysplasia articular cartilage associated with compound heterozygous WISP3 gene mutation. 雑誌 J Mol Med (Berl) 85:985-96 (2007) DOI:10.1007/s00109-007-0193-2 PMID:16152649 著者 Delague V, Chouery E, Corbani S, Ghanem I, Aamar S, Fischer J, Levy-Lahad E, Urtizberea JA, Megarbane A タイトル Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: identification of two novel mutations, and description of a founder effect. 雑誌 Am J Med Genet A 138A:118-26 (2005) DOI:10.1002/ajmg.a.30906 |