Details of Disease

General Information of Disease (ID: DISSH144)

Disease Name Noonan syndrome 5
Synonyms RAF1 gene related Noonan syndrome; NS5; Noonan syndrome caused by mutation in RAF1; Noonan syndrome 5; Noonan syndrome type 5; RAF1 Noonan syndrome
Definition Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 gene.
Disease Hierarchy
DIS7Q7DN: Noonan syndrome
DISSH144: Noonan syndrome 5
Disease Identifiers
MONDO ID
MONDO_0012690
MESH ID
C548083
UMLS CUI
C1969057
OMIM ID
611553
MedGen ID
370589

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RAF1 TTAN5W2 Strong Biomarker [1]
RAF1 TTB18GJ Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RAF1 OT51LSFO Definitive Autosomal dominant [2]
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References

1 SUMO Modification Stabilizes Dengue Virus Nonstructural Protein 5 To Support Virus Replication.J Virol. 2016 Apr 14;90(9):4308-4319. doi: 10.1128/JVI.00223-16. Print 2016 May.
2 The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor. Am J Med Genet A. 2018 Feb;176(2):470-476. doi: 10.1002/ajmg.a.38569. Epub 2017 Dec 22.