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last update : 19-10-2009
Symbol ALSG
Location 5p12
Name aplasia of lacrymal and salivary gland
Other name(s) lacrimo-auriculo-dento-digital syndrome
Corresponding gene FGF10
Other symbol(s) LADD
Main clinical features
  • irritable eyes, epiphora (constant tearing), and xerostomia (dryness of the mouth), which increases risk of dental erosion, dental caries, periodontal disease, and oral infections
  • Genetic determination autosomal dominant
    Related entries including LADD, lacrimo-auriculo-dento-digital syndrome (MIM 149730), characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies
    Function/system disorder eye
    digestive tract/gastrointestinal
    Type malformation
    Gene product
    Name fibroblast growth factor 10
    Gene mutationChromosome rearrangementEffectComments
    deletion   haploinsufficiency  
    missense   abnormal protein/loss of function altering or abolishing the interaction of FGF10with the D3 region of FGFR2b