Disease: Metachondromatosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.750 Biomarker disease GENOMICS_ENGLAND A mutation in PTPN11 may drive leukemic transformation in a case of essential thrombocythemia. 28587547 2018
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.750 CausalMutation disease CLINVAR Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing. 28957739 2018
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.750 CausalMutation disease CLINVAR Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. 28650561 2017
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.750 CausalMutation disease CLINVAR Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11. 28483241 2017
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.750 Biomarker disease BEFREE SHP2 loss-of-function mutations in chondroid cells are linked to metachondromatosis in humans and mice, suggesting a crucial role for SHP2 in the skeleton. 28983104 2017
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.750 CausalMutation disease CLINVAR Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. 27521173 2016
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.750 CausalMutation disease CLINVAR [Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway]. 25912702 2015
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.750 CausalMutation disease CLINVAR De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. 26785492 2015
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.750 GeneticVariation disease BEFREE Over the two past decades, mutations of the PTPN11 gene, encoding the ubiquitous protein tyrosine phosphatase SHP2 (SH2 domain-containing tyrosine phosphatase 2), have been identified as the causal factor of several developmental diseases (Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NS-ML), and metachondromatosis), and malignancies (juvenile myelomonocytic leukemia). 26341048 2015
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.750 CausalMutation disease CLINVAR Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). 24628801 2014
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.750 Biomarker disease BEFREE Loss of PTPN11/SHP2 in mice or in human metachondromatosis (MC) patients causes benign cartilage tumors on the bone surface (exostoses) and within bones (enchondromas). 24875294 2014
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.750 CausalMutation disease CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665 2014
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.750 GeneticVariation disease BEFREE In addition, combined somatic and germline PTPN11 mutations have been shown to be responsible for a rare benign bone cartilaginous tumor disease known as metachondromatosis. 25178522 2014
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.750 CausalMutation disease CLINVAR Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection. 23726368 2013
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.750 GermlineCausalMutation disease ORPHANET We conclude that heterozygous loss-of-function mutations in PTPN11 are a frequent cause of MC, that lesions in patients with MC appear to arise following a "second hit," that MC may be locus heterogeneous since 1 familial and 5 sporadically occurring cases lacked obvious disease-causing PTPN11 mutations, and that PTPN11 mutations are not a common cause of Ollier disease or Maffucci syndrome. 21533187 2011
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.750 GeneticVariation disease BEFREE We conclude that heterozygous loss-of-function mutations in PTPN11 are a frequent cause of MC, that lesions in patients with MC appear to arise following a "second hit," that MC may be locus heterogeneous since 1 familial and 5 sporadically occurring cases lacked obvious disease-causing PTPN11 mutations, and that PTPN11 mutations are not a common cause of Ollier disease or Maffucci syndrome. 21533187 2011
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.750 CausalMutation disease CLINVAR We conclude that heterozygous loss-of-function mutations in PTPN11 are a frequent cause of MC, that lesions in patients with MC appear to arise following a "second hit," that MC may be locus heterogeneous since 1 familial and 5 sporadically occurring cases lacked obvious disease-causing PTPN11 mutations, and that PTPN11 mutations are not a common cause of Ollier disease or Maffucci syndrome. 21533187 2011
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.750 CausalMutation disease CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260 2011
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.750 CausalMutation disease CLINVAR Lethal presentation of neurofibromatosis and Noonan syndrome. 21567923 2011
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.750 CausalMutation disease CLINVAR Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling. 20308328 2010
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.750 CausalMutation disease CLINVAR Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? 21340158 2010
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.750 CausalMutation disease CLINVAR Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. 20577567 2010
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.750 CausalMutation disease CLINVAR Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia. 19509418 2009
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.750 CausalMutation disease CLINVAR Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation. 18253957 2008
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.750 CausalMutation disease CLINVAR Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations. 16399795 2006