You are using an outdated browser. Please upgrade your browser to improve your experience.
short stature due to primary acid-labile subunit deficiency
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description 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.
Uniprot Description A disorder characterized by severely reduced serum IGF-I and IGFBP-3 concentrations and mild growth retardation. Pubertal delay in boys and insulin insensitivity are common findings.
Mondo Term and Equivalent IDs
MONDO:0014420: short stature due to primary acid-labile subunit deficiency