STAT5Bbase: Growth hormone insensitivity with immunodeficiency

Version 1.0 last updated 18 June, 2007 contains 4 public entries


Curated:	Mauno Vihinen
Maintained by:	Jouni Väliaho
About database:	How to cite
	Copyright notice
	Database policy
	Liability statement
	Recommendations and standards followed

Short description of the STAT5Bbase :

Laron syndrome is an autosomal recessive disorder characterized by marked short stature, clinical hyposomatotropism, failure to generate somatomedin, or insulin-like growth factor-1 in response to growth hormone, and normal or increased levels of growth hormone. Patients have occasionally blue sclerae and hip degeneration. Laron syndrome is caused by dysfunction of the growth hormone receptor. There are two types: type I is associated with defects in growth hormone receptor while the second, type II, is apparently due to postreceptor defects in signal transduction to produce insulin-like growth factor-1 or possibly defects in its receptor.

Other IBT bioinformatics services:
Immunodeficiency Resource (IDR)
Immunodeficiency Mutation Databases (MUTbase)
IDdiagnostics
Immunome Knowledge Base (IKB) - An integrated service for immunome research
SH2base - Database for pathogenic SH2 domain mutations

IDbases are linked to University of California Santa Cruz (UCSC) genome browser: STAT5Bbase