Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 04-03-2009
Symbol AGU
Location 4q34.3
Name aspartylglucosaminuria
Corresponding gene AGA
Main clinical features
  • severe mental retardation, sagging cheeks, broad nose and face, short neck, cranial asymmetry, scoliosis, periodic hyperactivity, and vacuolated lymphocytes, frequent diarrhea and infections in infancy
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/lysosomal
    Type disease
    Gene product
    Name aspartyl-N-acetylglucosaminidase (AGA)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     L15R amino acid substitution
    Remark(s)