Details of Disease | DrugMAP

General Information of Disease (ID: DISSZJ2I)

Disease Name	Noonan syndrome 8
Synonyms	RIT1 Noonan syndrome; Noonan syndrome caused by mutation in RIT1; NS8; Noonan syndrome 8; Noonan syndrome type 8
Definition	Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene.
Disease Hierarchy	DIS7Q7DN: Noonan syndrome DISSZJ2I: Noonan syndrome 8
Disease Identifiers	MONDO ID MONDO_0014143 UMLS CUI C3809233 OMIM ID 615355 MedGen ID 815563

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
RIT1	OTVNOGOH	Definitive	Autosomal dominant	[1]
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References

1	Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. Am J Hum Genet. 2013 Jul 11;93(1):173-80. doi: 10.1016/j.ajhg.2013.05.021. Epub 2013 Jun 20.