Details of Disease

General Information of Disease (ID: DIS4MLJP)

Disease Name Noonan syndrome 3
Synonyms KRAS Noonan syndrome; Noonan syndrome type 3; KRAS gene related Noonan syndrome; Noonan syndrome caused by mutation in KRAS; Noonan syndrome 3; NS3
Definition Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene.
Disease Hierarchy
DIS7Q7DN: Noonan syndrome
DIS4MLJP: Noonan syndrome 3
Disease Identifiers
MONDO ID
MONDO_0012371
UMLS CUI
C1860991
OMIM ID
609942
MedGen ID
349931

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RAF1 TTAN5W2 Strong Genetic Variation [1]
KRAS TTRHMTC Definitive Autosomal dominant [2]
KRAS TTM8FR7 Definitive CausalMutation [3]
------------------------------------------------------------------------------------
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SHOC2 OTUNQ2CT Strong CausalMutation [4]
SOS1 OTTCWXC3 Strong Genetic Variation [5]
KRAS OT78QCN8 Definitive Autosomal dominant [2]
------------------------------------------------------------------------------------

References

1 Prenatal diagnosis of hypoplastic left heart syndrome associated with Noonan Syndrome and de novo RAF1 mutation.Prenat Diagn. 2012 Oct;32(10):1016-8. doi: 10.1002/pd.3938. Epub 2012 Jul 23.
2 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet. 2006 Mar;38(3):294-6. doi: 10.1038/ng1749. Epub 2006 Feb 12.
3 Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.Mol Syst Biol. 2014 May 6;10(5):727. doi: 10.1002/msb.20145092.
4 Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome.Oncol Rep. 2013 Aug;30(2):553-9. doi: 10.3892/or.2013.2535. Epub 2013 Jun 11.
5 NMR-based functional profiling of RASopathies and oncogenic RAS mutations.Proc Natl Acad Sci U S A. 2013 Mar 19;110(12):4574-9. doi: 10.1073/pnas.1218173110. Epub 2013 Mar 4.