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References OMIM Gene GeneReviews HGMD HGNC
last update : 26-01-2010
Symbol ALSD
Location 16p13.3
Name acid-labile subunit deficiency
Corresponding gene IGFALS
Main clinical features
  • delay of growth and pubertal development, with marked reduction in circulating levels of both IGFI and IGFBP3, and with modest growth response to GH treatment
  • low serum levels of IGF1 and IGFBP3 that remain abnormally low upon growth hormone stimulation and postnatal growth clearly affected, but with only a mild impact on postnatal growth (Domene 2009)
  • Genetic determination autosomal recessive
    Function/system disorder endocrinology
    Type disease