| H00762 | |
| H number | H00762 |
| Name | Spondyloepiphyseal dysplasia with congenital joint dislocations; Spondyloepiphyseal dysplasia, Omani type |
| Description | Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) is also known as SED Omani type. Knees, hip and elbow dislocations are common. Thoracic kyphoscoliosis develops in late childhood. Affected individuals are homozygous for a missense mutation of CHST3 encoding the enzyme chondroitin 6-O-sulfotransferase-1 (C6ST-1). |
| Category | Congenital malformation |
| Network | nt06029(H00762) Glycosaminoglycan biosynthesis |
| Gene | CHST3 [HSA:9469] [KO:K01020] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LB9Z ICD-10: Q74.8 MeSH: C535789 OMIM: 143095 |
| Reference | PMID:18698629 AUTHORS van Roij MH, Mizumoto S, Yamada S, Morgan T, Tan-Sindhunata MB, Meijers-Heijboer H, Verbeke JI, Markie D, Sugahara K, Robertson SP TITLE Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype. JOURNAL Am J Med Genet A 146A:2376-84 (2008) DOI:10.1002/ajmg.a.32482 PMID:15602087 AUTHORS Rossi M, De Brasi D, Hall CM, Battagliese A, Melis D, Sebastio G, Andria G TITLE A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form). JOURNAL Clin Dysmorphol 14:13-8 (2005) DOI:10.1097/00019605-200501000-00003 PMID:9678701 AUTHORS Hall CM, Elcioglu NH, Shaw DG TITLE A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations. JOURNAL J Med Genet 35:566-72 (1998) DOI:10.1136/jmg.35.7.566 |