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Short stature due to primary acid-labile subunit deficiency

Disease definition

Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity.

ORPHA:140941

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E34.3
  • OMIM: 615961
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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