エントリ 名称 涙腺および唾液腺の形成不全
概要 Aplasia of lacrimal and salivary glands (ALSG) is a rare autosomal dominant condition characterized by insufficient development of the lacrimal and salivary systems. Patients with ALSG suffer from irritable eyes and dryness of the mouth. Mutations in FGF10 were recently described in ALSG.
カテゴリ 先天奇形
階層分類 ICD-11 による疾患分類 [BR:jp08403 ] BRITE hierarchy パスウェイ hsa04810 Regulation of actin cytoskeleton
病因遺伝子 コメント Lacrimo-auriculo-dento-digital syndrome (LADD), a closely related disorder, is described in
H00642 .
リンク 文献 著者 Entesarian M, Dahlqvist J, Shashi V, Stanley CS, Falahat B, Reardon W, Dahl N
タイトル FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG).
雑誌 文献 著者 Entesarian M, Matsson H, Klar J, Bergendal B, Olson L, Arakaki R, Hayashi Y, Ohuchi H, Falahat B, Bolstad AI, Jonsson R, Wahren-Herlenius M, Dahl N
タイトル Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands.
雑誌 文献 著者 Scheckenbach K, Balz V, Wagenmann M, Hoffmann TK
タイトル An intronic alteration of the fibroblast growth factor 10 gene causing ALSG-(aplasia of lacrimal and salivary glands) syndrome.
雑誌 LinkDB All DBs
