Details of Disease

General Information of Disease (ID: DISW145E)

Disease Name Noonan syndrome 4
Synonyms SOS1 gene related Noonan syndrome; SOS1 Noonan syndrome; Noonan syndrome 4; Noonan syndrome type 4; Noonan syndrome caused by mutation in SOS1; NS4
Definition Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene.
Disease Hierarchy
DIS7Q7DN: Noonan syndrome
DISW145E: Noonan syndrome 4
Disease Identifiers
MONDO ID
MONDO_0012547
MESH ID
C548082
UMLS CUI
C1853120
OMIM ID
610733
MedGen ID
339908

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LZTR1 OTIDM6XO Strong Biomarker [1]
SOS1 OTTCWXC3 Definitive Autosomal dominant [2]
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References

1 Evaluation of HDPE and LDPE degradation by fungus, implemented by statistical optimization.Sci Rep. 2017 Jan 4;7:39515. doi: 10.1038/srep39515.
2 Pigmented villonodular synovitis in a patient with Noonan syndrome and SOS1 gene mutation. Am J Med Genet A. 2008 Nov 15;146A(22):2966-7. doi: 10.1002/ajmg.a.32538.