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References OMIM Gene GeneReviews HGMD HGNC
last update : 17-12-2014
Symbol GHIS3
Location 17q21.2
Name growth hormone insensitivity 3
Other name(s)
  • Laron syndrome, type II
  • Laron type, dwarfism II
  • Laron syndrome due to postreceptor defect
  • Corresponding gene STAT5B
    Main clinical features
  • with IGF1 deficiency, postnatal growth retardation, facial dysmorphism
  • dwarfism associated with high circulating growth hormone: child are very short and obese, had acromicria, small genitalia (in the boys), and a high-pitched voice
  • characterized by chronic lung disease, growth failure and autoimmunity associated with regulatory T cell (Treg) reduction (PMID: 23773921))
  • Genetic determination autosomal recessive
    Function/system disorder endocrinology
    Type disease
    Gene product
    Name signal transducer and activator of transcription 5B