Details of Disease

General Information of Disease (ID: DIS3WUB8)

Disease Name LEOPARD syndrome 1
Synonyms lentiginosis, cardiomyopathic; LEOPARD syndrome 1; multiple lentigines syndrome; LEOPARD syndrome type 1; LPRD1
Definition Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24.
Disease Hierarchy
DIS014D0: Noonan syndrome with multiple lentigines
DIS3WUB8: LEOPARD syndrome 1
Disease Identifiers
MONDO ID
MONDO_0100082
MESH ID
D044542
UMLS CUI
C4551484
OMIM ID
151100
MedGen ID
1631694

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MAP2K1 TTIDAPM Limited Biomarker [1]
PTPN11 TT7WUAV Limited CausalMutation [2]
EPHA2 TTRJB2G Strong Biomarker [3]
RAF1 TTAN5W2 Strong Biomarker [4]
PTPN11 TT7WUAV Definitive Autosomal dominant [5]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PTPN11 OTFH9M73 Definitive Autosomal dominant [5]
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References

1 A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines.Am J Med Genet A. 2015 Feb;167A(2):407-11. doi: 10.1002/ajmg.a.36842. Epub 2014 Nov 25.
2 Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing.Adv Med Sci. 2018 Mar;63(1):87-93. doi: 10.1016/j.advms.2017.07.001. Epub 2017 Sep 26.
3 Regulation of apoptosis in HL-1 cardiomyocytes by phosphorylation of the receptor tyrosine kinase EphA2 and protection by lithocholic acid.Br J Pharmacol. 2012 Dec;167(7):1563-72. doi: 10.1111/j.1476-5381.2012.02117.x.
4 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet. 2007 Aug;39(8):1007-12. doi: 10.1038/ng2073. Epub 2007 Jul 1.
5 Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome. Clin Exp Otorhinolaryngol. 2013 Jun;6(2):99-102. doi: 10.3342/ceo.2013.6.2.99. Epub 2011 Feb 7.