| H00447 | |
| H番号 | H00447 |
| 名称 | グリーンバーグ骨異形成症 |
| 概要 | Hydrops ectopic calcification-moth-eaten (HEM) or Greenberg skeletal dysplasia is a lethal chondrodystrophy characterized by fetal hydrops, short limbs, and abnormal chondro-osseous calcification. It is inherited as an autosomal recessive trait. Homozygous mutation in LBR is the cause of HEM/Greenberg skeletal dysplasia. |
| カテゴリ | 先天奇形 |
| ネットワーク | nt06034(H00447) Cholesterol biosynthesis |
| 病因遺伝子 | (GRBGD) LBR [HSA:3930] [KO:K19532] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD24.04 ICD-10: Q78.8 MeSH: C535858 OMIM: 215140 |
| 文献 | PMID:17467691 著者 Worman HJ, Bonne G タイトル "Laminopathies": a wide spectrum of human diseases. 雑誌 Exp Cell Res 313:2121-33 (2007) DOI:10.1016/j.yexcr.2007.03.028 PMID:12618959 (GRBGD) 著者 Waterham HR, Koster J, Mooyer P, Noort Gv G, Kelley RI, Wilcox WR, Wanders RJ, Hennekam RC, Oosterwijk JC タイトル Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene. 雑誌 Am J Hum Genet 72:1013-7 (2003) DOI:10.1086/373938 |