Disease: LEOPARD Syndrome ×
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation disease CLINVAR ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581 2018
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation disease CLINVAR PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain. 25884655 2015
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation disease CLINVAR LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. 24767283 2014
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation disease CLINVAR Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish. 24718990 2014
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation disease CLINVAR Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations. 24935154 2014
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation disease CLINVAR Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. 24451042 2014
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation disease CLINVAR Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). 24628801 2014
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation disease CLINVAR Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation. 23813970 2013
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation disease CLINVAR Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome. 23799168 2013
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation disease CLINVAR A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1. 22585553 2012
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation disease CLINVAR Pediatric cardiomyopathy: importance of genetic and metabolic evaluation. 22555271 2012
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation disease CLINVAR The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling. 22058153 2012
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation disease CLINVAR Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines). 22528600 2012
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation disease CLINVAR Heart and/or cardiomyocyte lysates from LS/+ mice showed enhanced binding of Shp2 to Irs1, decreased Shp2 catalytic activity, and abrogated agonist-evoked Erk/Mapk signaling. 21339643 2011
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation disease CLINVAR PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots? 22681964 2011
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation disease CLINVAR LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation. 21677813 2011
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation disease CLINVAR We report a typical case of LEOPARD syndrome with PTPN11 gene mutation associated with lentigines, electrocardiograph abnormality, ocular hypertelorism, pulmonary valve stenosis, growth retardation, and sensorineural hearing loss. 21747628 2011
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation disease CLINVAR Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His. 21910226 2011
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation disease CLINVAR LEOPARD-type SHP2 mutant Gln510Glu attenuates cardiomyocyte differentiation and promotes cardiac hypertrophy via dysregulation of Akt/GSK-3β/β-catenin signaling. 21803945 2011
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation disease CLINVAR RASopathies: Clinical Diagnosis in the First Year of Life. 22190897 2011
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation disease CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260 2011
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation disease CLINVAR In conclusion, SHP2 mutations causing LS facilitate EGF-induced PI3K/AKT/GSK-3beta stimulation through impaired GAB1 dephosphorylation, resulting in deregulation of a novel signaling pathway that could be involved in LS pathology. 20308328 2010
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation disease CLINVAR PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes. 20578946 2010
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation disease CLINVAR LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature. 19768645 2010
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation disease CLINVAR Our results indicate that previously enigmatic aspects of LEOPARD syndrome pathogenesis can be explained by the combined effects of loss of Shp2 catalytic function and retention of an SH2 domain-mediated role that is essential for neural crest cell survival. 20493809 2010