Details of Disease | DrugMAP

General Information of Disease (ID: DISNOZ2M)

Disease Name	Neurofibromatosis-Noonan syndrome
Synonyms	Noonan neurofibromatosis syndrome; Noonan-neurofibromatosis syndrome; neurofibromatosis with Noonan phenotype; NFNS; neurofibromatosis-Noonan syndrome; neurofibromatosis type 1-Noonan syndrome
Definition	A RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS).
Disease Hierarchy	DIS5N2R6: Neurofibromatosis DISPAV44: RASopathy DIS7GG31: Developmental defect during embryogenesis DISNOZ2M: Neurofibromatosis-Noonan syndrome
Disease Identifiers	MONDO ID MONDO_0011035 MESH ID C537393 UMLS CUI C2931482 OMIM ID 601321 MedGen ID 419089 Orphanet ID 638 SNOMED CT ID 715344006

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
MAP2K2	TT8H9GB	Supportive	Autosomal dominant	[1]
MAP2K2	TT8H9GB	Strong	GermlineCausalMutation	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MAP2K2	OTUE7Z91	Supportive	Autosomal dominant	[1]
NF1	OTC29NHH	Definitive	Autosomal dominant	[2]
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References

1	Multiple caf au lait spots in familial patients with MAP2K2 mutation. Am J Med Genet A. 2014 Feb;164A(2):392-6. doi: 10.1002/ajmg.a.36288. Epub 2013 Dec 5.
2	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.