| H00863 | |
| H番号 | H00863 |
| 名称 | 脊椎分離-大骨端-骨幹端異形成 |
| 概要 | Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare skeletal dysplasia. Its features are disproportionate short stature. On radiograph, defective ossification of vertebral bodies, enlarged epiphyses, and metaphyseal dysplasia are noted. It is inherited as an autosomal recessive trait. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | NKX3-2 [HSA:579] [KO:K09995] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | The diseases similar to spondylo-megaepiphyseal-metaphyseal dysplasia include spondylometaphyseal dysplasia (H00522), oto-spondylo-megaepiphyseal dysplasia (H00519), and cleidocranial dysplasia (H00521). |
| リンク | ICD-11: LD24.3 ICD-10: Q77.7 MeSH: C567639 OMIM: 613330 |
| 文献 | PMID:13680008 著者 Agarwal PP, Srinivasan A, Sharma R, Kabra M, Gupta AK タイトル Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasia. 雑誌 Pediatr Radiol 33:893-6 (2003) DOI:10.1007/s00247-003-1033-3 PMID:20004766 著者 Hellemans J, Simon M, Dheedene A, Alanay Y, Mihci E, Rifai L, Sefiani A, van Bever Y, Meradji M, Superti-Furga A, Mortier G タイトル Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia. 雑誌 Am J Hum Genet 85:916-22 (2009) DOI:10.1016/j.ajhg.2009.11.005 |