Details of Disease

General Information of Disease (ID: DIS7M92N)

Disease Name Noonan syndrome 1
Synonyms Male Turner syndrome; Turner phenotype with normal karyotype; female pseudo-Turner syndrome; Noonan syndrome; pterygium colli syndrome; Noonan syndrome type 1; Noonan syndrome 1; NS1
Definition Noonan syndrome caused by mutations in the PTPN11 gene.
Disease Hierarchy
DIS7Q7DN: Noonan syndrome
DIS7M92N: Noonan syndrome 1
Disease Identifiers
MONDO ID
MONDO_0008104
MESH ID
D009634
UMLS CUI
C4551602
OMIM ID
163950
MedGen ID
1638960

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 10 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MAP2K2 TT8H9GB Limited Biomarker [1]
BRAF TT0EOB8 Strong Biomarker [1]
EPHA2 TTRJB2G Strong Biomarker [2]
HRAS TT28ZON Strong Biomarker [1]
IFNAR2 TTMQB37 Strong Genetic Variation [3]
MAP2K1 TTIDAPM Strong Biomarker [1]
NRAS TTW2R9X Strong Biomarker [4]
RAF1 TTAN5W2 Strong Biomarker [5]
PTPN11 TT7WUAV Definitive Autosomal dominant [6]
PTPN11 TT7WUAV Definitive Genetic Variation [7]
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⏷ Show the Full List of 10 DTT(s)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SHOC2 OTUNQ2CT Limited Biomarker [8]
RNASE1 OTKZ7CO9 moderate Biomarker [9]
SOS1 OTTCWXC3 Strong Biomarker [5]
SOS2 OTV3XRE5 Strong Genetic Variation [10]
PTPN11 OTFH9M73 Definitive Autosomal dominant [6]
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References

1 Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency.J Inherit Metab Dis. 2007 Oct;30(5):827. doi: 10.1007/s10545-007-0612-0. Epub 2007 Aug 20.
2 Regulation of apoptosis in HL-1 cardiomyocytes by phosphorylation of the receptor tyrosine kinase EphA2 and protection by lithocholic acid.Br J Pharmacol. 2012 Dec;167(7):1563-72. doi: 10.1111/j.1476-5381.2012.02117.x.
3 G45R mutation in the nonstructural protein 1 of A/Puerto Rico/8/1934 (H1N1) enhances viral replication independent of dsRNA-binding activity and type I interferon biology.Virol J. 2016 Jul 12;13:127. doi: 10.1186/s12985-016-0585-4.
4 A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet. 2010 Jan;42(1):27-9. doi: 10.1038/ng.497. Epub 2009 Dec 6.
5 Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet. 2007 Aug;39(8):1013-7. doi: 10.1038/ng2078. Epub 2007 Jul 1.
6 PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat Genet. 2019 Nov;51(11):1560-1565. doi: 10.1038/s41588-019-0528-2.
7 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.Blood. 2019 Dec 5;134(23):2082-2091. doi: 10.1182/blood.2018891192.
8 Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet. 2009 Sep;41(9):1022-6. doi: 10.1038/ng.425. Epub 2009 Aug 16.
9 Proteomic analysis of chicken embryo fibroblast cells infected with recombinant H5N1 avian influenza viruses with and without NS1 eIF4GI binding domain.Oncotarget. 2017 Dec 22;9(9):8350-8367. doi: 10.18632/oncotarget.23615. eCollection 2018 Feb 2.
10 Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Hum Mutat. 2015 Nov;36(11):1080-7. doi: 10.1002/humu.22834. Epub 2015 Aug 3.