| H00498 | |
| H番号 | H00498 |
| 名称 | 顎骨骨幹異形成症 |
| 概要 | Gnathodiaphyseal dysplasia is a rare skeletal syndrome with autosomal dominant inheritance. It is characterized by cemento-osseous lesions of the jawbone, bone fragility, and sclerosis of tubular bones. Missense mutations of GDD1, which shows homology to TMEM16E, were identified. |
| カテゴリ | 筋骨格疾患 |
| ネットワーク | - |
| 病因遺伝子 | GDD1/TMEM16E [HSA:203859] [KO:K19480] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD24.2Y MeSH: C536039 OMIM: 166260 |
| 文献 | PMID:11547842 著者 Riminucci M, Collins MT, Corsi A, Boyde A, Murphey MD, Wientroub S, Kuznetsov SA, Cherman N, Robey PG, Bianco P タイトル Gnathodiaphyseal dysplasia: a syndrome of fibro-osseous lesions of jawbones, bone fragility, and long bone bowing. 雑誌 J Bone Miner Res 16:1710-8 (2001) DOI:10.1359/jbmr.2001.16.9.1710 PMID:15124103 著者 Tsutsumi S, Kamata N, Vokes TJ, Maruoka Y, Nakakuki K, Enomoto S, Omura K, Amagasa T, Nagayama M, Saito-Ohara F, Inazawa J, Moritani M, Yamaoka T, Inoue H, Itakura M タイトル The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD). 雑誌 Am J Hum Genet 74:1255-61 (2004) DOI:10.1086/421527 PMID:17418107 著者 Mizuta K, Tsutsumi S, Inoue H, Sakamoto Y, Miyatake K, Miyawaki K, Noji S, Kamata N, Itakura M タイトル Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasia. 雑誌 Biochem Biophys Res Commun 357:126-32 (2007) DOI:10.1016/j.bbrc.2007.03.108 |