| H00677 | |
| H番号 | H00677 |
| 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 |
| ネットワーク | - |
| 病因遺伝子 | FGF10 [HSA:2255] [KO:K04358] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Lacrimo-auriculo-dento-digital syndrome (LADD), a closely related disorder, is described in H00642. |
| リンク | ICD-11: LA14.10 ICD-10: Q10.4 Q38.4 MeSH: C562407 OMIM: 180920 |
| 文献 | PMID:17213838 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 Eur J Hum Genet 15:379-82 (2007) DOI:10.1038/sj.ejhg.5201762 PMID:15654336 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 Nat Genet 37:125-7 (2005) DOI:10.1038/ng1507 PMID:19102732 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 BMC Med Genet 9:114 (2008) DOI:10.1186/1471-2350-9-114 |