Leopard syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
LEOPARD SYNDROME 1
151100C4551484MONDO:0100082
PTPN11 Causal
27484170 26377839 25917897 25884655 24820750 22822385 21910226 23799168 21747628 21677813 21365175 19864201 19768645 19659470 19054014 24790373 17927788 17875892 16733669 15520399 12058348 17697839 11992261 16358218 15121796 16377
ClinVar, Disgenet, GWAS catalog, HPO
Ras signaling pathway Phospholipase D signaling pathway Efferocytosis +56 more
LEOPARD SYNDROME 2
611554C1969056MONDO:0012691
RAF1 Causal
17603482 17603483
ClinVar, Disgenet, HPO
EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +93 more
LEOPARD SYNDROME 3
613707C3150971MONDO:0013380OMIM:613707
BRAF Causal
19206169 21396583
CTD, ClinVar, Disgenet, GenCC, HPO
All11 Causal3 Unknown11
Related Diseases Diseases that share the most curated genes with Leopard syndrome.
5 View disease cluster →
noonan syndrome with multiple lentigines 5 shared genesBRAF, NRAS, RAF1, PTPN11, MAP2K1 Related via 5 shared genes including BRAF, NRAS, RAF1. Cardiofaciocutaneous syndrome 6 shared genesBRAF, NRAS, RAF1, PTPN11, MAP2K1, MAP2K2 Related via 6 shared genes including BRAF, NRAS, RAF1. Costello syndrome 6 shared genesBRAF, NRAS, RAF1, PTPN11, MAP2K1, MAP2K2 Related via 6 shared genes including BRAF, NRAS, RAF1. Noonan syndrome 9 shared genesBRAF, RPL6, NRAS, EPHA2, RAF1, PTPN11, MAP2K1, MAP2K2, MKRN2 Related via 9 shared genes including BRAF, RPL6, NRAS. Neurofibromatosis-noonan syndrome 2 shared genesPTPN11, MAP2K2 Related via 2 shared genes including PTPN11, MAP2K2.