| H00765 | |
| H number | H00765 |
| Name | Spondyloepiphyseal dysplasia, Kimberley type |
| Description | Spondyloepiphyseal dysplasia Kimberley type is a mild form of spondyloepiphyseal dysplasia (SED) with early-onset arthropathy. The phenotype of the disease is short stature and stocky build due to flattened vertebral bodies. Aggrecan, the protein of the proteoglycan of cartilage, is linked to the disease. |
| Category | Congenital malformation |
| Network | - |
| Gene | ACAN [HSA:176] [KO:K06792] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.3 ICD-10: Q77.7 MeSH: C564252 OMIM: 608361 |
| Reference | PMID:16080123 AUTHORS Gleghorn L, Ramesar R, Beighton P, Wallis G TITLE A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis. JOURNAL Am J Hum Genet 77:484-90 (2005) DOI:10.1086/444401 |