Details of Disease

General Information of Disease (ID: DISZ0W7B)

Disease Name Noonan syndrome 7
Synonyms Noonan syndrome caused by mutation in BRAF; Noonan syndrome 7; Noonan syndrome type 7; NS7; BRAF Noonan syndrome
Definition Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene.
Disease Hierarchy
DIS7Q7DN: Noonan syndrome
DISZ0W7B: Noonan syndrome 7
Disease Identifiers
MONDO ID
MONDO_0013379
UMLS CUI
C3150970
OMIM ID
613706
MedGen ID
462320

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
BRAF TT0EOB8 moderate Biomarker [1]
BRAF TT0EOB8 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
BRAF OT7S81XQ Definitive Autosomal dominant [2]
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References

1 Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.Am J Med Genet A. 2017 Sep;173(9):2346-2352. doi: 10.1002/ajmg.a.38337. Epub 2017 Jun 26.
2 Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. Hum Mutat. 2009 Apr;30(4):695-702. doi: 10.1002/humu.20955.