Details of Disease | DrugMAP

General Information of Disease (ID: DISOQEB7)

Disease Name	LEOPARD syndrome 2
Synonyms	LPRD2; Leopard syndrome type 2; LEOPARD syndrome 2; leopard syndrome 2
Definition	Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the RAF1 gene.
Disease Hierarchy	DIS014D0: Noonan syndrome with multiple lentigines DISOQEB7: LEOPARD syndrome 2
Disease Identifiers	MONDO ID MONDO_0012691 UMLS CUI C1969056 OMIM ID 611554 MedGen ID 370588

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
RAF1	TTB18GJ	Strong	Autosomal dominant	[1]
RAF1	TTAN5W2	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RAF1	OT51LSFO	Strong	Autosomal dominant	[1]
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References

1	Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet. 2007 Aug;39(8):1013-7. doi: 10.1038/ng2078. Epub 2007 Jul 1.
2	The RASopathies.Annu Rev Genomics Hum Genet. 2013;14:355-69. doi: 10.1146/annurev-genom-091212-153523. Epub 2013 Jul 15.