| H00677 | |
| H number | H00677 |
| Name | Aplasia of lacrimal and salivary glands |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | FGF10 [HSA:2255] [KO:K04358] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Lacrimo-auriculo-dento-digital syndrome (LADD), a closely related disorder, is described in H00642. |
| Other DBs | ICD-11: LA14.10 ICD-10: Q10.4 Q38.4 MeSH: C562407 OMIM: 180920 |
| Reference | PMID:17213838 AUTHORS Entesarian M, Dahlqvist J, Shashi V, Stanley CS, Falahat B, Reardon W, Dahl N TITLE FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG). JOURNAL Eur J Hum Genet 15:379-82 (2007) DOI:10.1038/sj.ejhg.5201762 PMID:15654336 AUTHORS 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 TITLE Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands. JOURNAL Nat Genet 37:125-7 (2005) DOI:10.1038/ng1507 PMID:19102732 AUTHORS Scheckenbach K, Balz V, Wagenmann M, Hoffmann TK TITLE An intronic alteration of the fibroblast growth factor 10 gene causing ALSG-(aplasia of lacrimal and salivary glands) syndrome. JOURNAL BMC Med Genet 9:114 (2008) DOI:10.1186/1471-2350-9-114 |