Details of Disease

General Information of Disease (ID: DISS7QAL)

Disease Name Noonan syndrome 10
Synonyms Noonan syndrome type 10; NS10; Noonan syndrome caused by mutation in LZTR1; LZTR1 Noonan syndrome; Noonan syndrome 10
Definition Any Noonan syndrome in which the cause of the disease is a mutation in the LZTR1 gene.
Disease Hierarchy
DIS7Q7DN: Noonan syndrome
DISS7QAL: Noonan syndrome 10
Disease Identifiers
MONDO ID
MONDO_0014693
UMLS CUI
C4225280
OMIM ID
616564
MedGen ID
902892

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
LZTR1 OTIDM6XO Definitive Autosomal dominant [1]
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References

1 LZTR1: Genotype Expansion in Noonan Syndrome. Horm Res Paediatr. 2019;92(4):269-275. doi: 10.1159/000502741. Epub 2019 Sep 18.