| H00765 | |
| H番号 | H00765 |
| 名称 | キンバリー型脊椎骨端異形成症 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | ACAN [HSA:176] [KO:K06792] |
| 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: C564252 OMIM: 608361 |
| 文献 | PMID:16080123 著者 Gleghorn L, Ramesar R, Beighton P, Wallis G タイトル A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis. 雑誌 Am J Hum Genet 77:484-90 (2005) DOI:10.1086/444401 |