Details of Disease

General Information of Disease (ID: DISUJY9X)

Disease Name Growth hormone insensitivity syndrome with immune dysregulation
Disease Hierarchy
DISYKSRF: Genetic disease
DISHEQ1Z: Growth hormone insensitivity syndrome
DISUJY9X: Growth hormone insensitivity syndrome with immune dysregulation

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
STAT5B OTZVPEBT Definitive Semidominant [1]
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References

1 Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation. Nat Commun. 2018 May 29;9(1):2105. doi: 10.1038/s41467-018-04521-0.