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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
Orphanet:140941: 
SCTID:721074002: 
UMLS:C3900122: