| H00758 | |
| H number | H00758 |
| Name | Progressive pseudorheumatoid dysplasia; Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | WISP3 [HSA:8838] [KO:K23090] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.3 ICD-10: Q77.7 MeSH: C535387 OMIM: 208230 |
| Reference | PMID:9222963 AUTHORS el-Shanti HE, Omari HZ, Qubain HI TITLE Progressive pseudorheumatoid dysplasia: report of a family and review. JOURNAL J Med Genet 34:559-63 (1997) DOI:10.1136/jmg.34.7.559 PMID:17596985 AUTHORS Bennani L, Amine B, Ichchou L, Lazrak N, Hajjaj-Hassouni N TITLE Progressive pseudorheumatoid dysplasia: three cases in one family. JOURNAL Joint Bone Spine 74:393-5 (2007) DOI:10.1016/j.jbspin.2006.11.014 PMID:17483925 AUTHORS 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 TITLE Cellular and molecular responses in progressive pseudorheumatoid dysplasia articular cartilage associated with compound heterozygous WISP3 gene mutation. JOURNAL J Mol Med (Berl) 85:985-96 (2007) DOI:10.1007/s00109-007-0193-2 PMID:16152649 AUTHORS Delague V, Chouery E, Corbani S, Ghanem I, Aamar S, Fischer J, Levy-Lahad E, Urtizberea JA, Megarbane A TITLE 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. JOURNAL Am J Med Genet A 138A:118-26 (2005) DOI:10.1002/ajmg.a.30906 |