Details of Disease | DrugMAP

General Information of Disease (ID: DISL1MTL)

Disease Name	LEOPARD syndrome 3
Synonyms	LPRD3; BRAF Noonan syndrome with multiple lentigines; leopard syndrome 3; Leopard syndrome type 3; LEOPARD syndrome 3; Noonan syndrome with multiple lentigines caused by mutation in BRAF
Definition	Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the BRAF gene.
Disease Hierarchy	DIS014D0: Noonan syndrome with multiple lentigines DISL1MTL: LEOPARD syndrome 3
Disease Identifiers	MONDO ID MONDO_0013380 UMLS CUI C3150971 OMIM ID 613707 MedGen ID 462321

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	The RASopathies.Annu Rev Genomics Hum Genet. 2013;14:355-69. doi: 10.1146/annurev-genom-091212-153523. Epub 2013 Jul 15.
2	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.