Details of Disease | DrugMAP

General Information of Disease (ID: DISY66RE)

Disease Name	Noonan syndrome-like disorder with loose anagen hair 1
Synonyms	Tosti syndrome; NSLH; Noonan syndrome-like with loose anagen hair 1; NSLH1; Noonan syndrome-like disorder with loose anagen hair 1
Disease Hierarchy	DISWMZIV: Noonan syndrome-like disorder with loose anagen hair DISY66RE: Noonan syndrome-like disorder with loose anagen hair 1
Disease Identifiers	MONDO ID MONDO_0054637 UMLS CUI C4478716 OMIM ID 607721 MedGen ID 1379805

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SHOC2	OTUNQ2CT	Definitive	Autosomal dominant	[1]
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References

1	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.