| H00519 | |
| H番号 | H00519 |
| 名称 | 先天性脊椎骨端異形成 |
| 概要 | Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Individuals with SED, Stanescu type (SEDS) are not short, although spondylar and epiphyseal abnormalities are radiologically quite conspicuous. Mutations in COL2A1 that encodes the alpha-1 chain of type II collagen, cause these diseases. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | COL2A1 [HSA:1280] [KO:K19719] |
| 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: D010009 OMIM: 183900 616583 |
| 文献 | PMID:1971141 著者 Anderson IJ, Goldberg RB, Marion RW, Upholt WB, Tsipouras P タイトル Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI). 雑誌 Am J Hum Genet 46:896-901 (1990) PMID:26420734 著者 Hammarsjo A, Nordgren A, Lagerstedt-Robinson K, Malmgren H, Nilsson D, Wedren S, Nordenskjold M, Nishimura G, Grigelioniene G タイトル Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu. 雑誌 Am J Med Genet A 170A:266-9 (2016) DOI:10.1002/ajmg.a.37387 |