Details of Disease | DrugMAP

General Information of Disease (ID: DISTATYK)

Disease Name	Noonan syndrome and Noonan-related syndrome
Disease Hierarchy	DISQCXZX: Disorder of development or morphogenesis DISPAV44: RASopathy DISQ89HN: Familial hypertrophic cardiomyopathy DISTATYK: Noonan syndrome and Noonan-related syndrome
Disease Identifiers	MONDO ID MONDO_0020297 UMLS CUI C5681679 MedGen ID 1826127 Orphanet ID 98733

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PTPN11	TT7WUAV	Definitive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PTPN11	OTFH9M73	Definitive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. J Biol Chem. 2006 Mar 10;281(10):6785-92. doi: 10.1074/jbc.M513068200. Epub 2005 Dec 23.