Details of Disease | DrugMAP

General Information of Disease (ID: DISNGGMY)

Disease Name	Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant
Synonyms	GHISID2; growth hormone insensitivity with immune dysregulation 2, autosomal dominant; GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT
Disease Hierarchy	DISUJY9X: Growth hormone insensitivity syndrome with immune dysregulation DISNGGMY: Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant
Disease Identifiers	MONDO ID MONDO_0100219 UMLS CUI C5436546 OMIM ID 618985 MedGen ID 1723138

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	Strong	Autosomal dominant	[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.