KEGG   DISEASE: Aplasia of lacrimal and salivary glandsHelp
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
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of eye
   H00677  Aplasia of lacrimal and salivary glands
  Congenital malformations of the digestive system
   H00677  Aplasia of lacrimal and salivary glands
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the eye, eyelid or lacrimal apparatus
    LA14  Structural developmental anomalies of eyelid, lacrimal apparatus or orbit
     H00677  Aplasia of lacrimal and salivary glands
BRITE hierarchy
Pathway
hsa04010  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-11: LA14.10
ICD-10: Q10.4 Q38.4
MeSH: C562407
OMIM: 180920
Reference
  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
Reference
  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
Reference
  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

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