KEGG   DISEASE: H00677Help
Entry
H00677                      Disease                                

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
Developmental disorder
BRITE hierarchy
Pathway
MAPK signaling pathway
Gene
FGF10 [HSA:2255] [KO:K04358]
Comment
Lacrimo-auriculo-dento-digital syndrome (LADD), a closely related disorder, is described in H00642.
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:17213838 (description, gene)
  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)
Reference
PMID:15654336 (description, gene)
  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)
Reference
PMID:19102732 (description, gene)
  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)

» Japanese version

DBGET integrated database retrieval system