エントリ 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
階層分類 ICD-11 による疾患分類 [BR:jp08403 ]jp08402 ] BRITE hierarchy パスウェイ ネットワーク 病因遺伝子 リンク 文献 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 文献 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 文献 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 LinkDB All DBs
