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GENATLAS PHENOTYPE

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

Remark(s)