Disease: Multiple pterygium syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		0.780 Biomarker disease GENOMICS_ENGLAND Lethal multiple pterygium syndrome. 27843868 2019
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		0.780 Biomarker disease BEFREE Herein we present a long-term follow-up of seven patients with CHRNG-related nonlethal MPS and we compare them with the 57 previously published patients. 30868735 2019
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		0.780 Biomarker disease BEFREE We discuss the opportunities of iUPD detection in medium/large-scale NGS analyses by example of a case of CHRNG-associated multiple pterygium syndrome due to complete maternal iUPD. 29891879 2018
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		0.780 GeneticVariation disease BEFREE We report the identification of a nonsense CHRNG variant in a consanguineous Pakistani family affected with Escobar syndrome. 30461311 2018
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		0.780 GeneticVariation disease BEFREE Mutations in the CHRNG encoding the embryonal acetylcholine receptor may cause the non-lethal Escobar variant (EVMPS) and lethal form (LMPS) of multiple pterygium syndrome. 27245440 2016
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		0.780 GeneticVariation disease BEFREE Mutations in CHRNG, which encode the acetylcholine receptor gamma subunit, cause most cases of MPS. 25608830 2015
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		0.780 GeneticVariation disease BEFREE Interestingly, his genetic testing showed the typical genotypic criteria of Escobar syndrome (CHRNG heterozygous mutation). 24254455 2013
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		0.780 GermlineCausalMutation disease ORPHANET In order to elucidate further the role of CHRNG mutations in MPS/FADS, this study evaluated the results of CHRNG mutation analysis in 100 families with a clinical diagnosis of MPS/FADS. 22167768 2012
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		0.780 GeneticVariation disease BEFREE In order to elucidate further the role of CHRNG mutations in MPS/FADS, this study evaluated the results of CHRNG mutation analysis in 100 families with a clinical diagnosis of MPS/FADS. 22167768 2012
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		0.780 GeneticVariation disease BEFREE Escobar syndrome has been recently described as a prenatal form of myasthenia associated with recessive mutations in genes of the neuromuscular junction (CHRNG, CHRNA1, CHRND, RAPSN). 19155175 2009
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		0.780 GeneticVariation disease UNIPROT Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. 16826520 2006
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		0.780 GeneticVariation disease UNIPROT Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. 16826531 2006
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		0.780 CausalMutation disease CLINVAR Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. 16826520 2006
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		0.780 Biomarker disease CTD_human Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. 16826520 2006
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		0.780 Biomarker disease CTD_human Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. 16826531 2006
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		0.780 CausalMutation disease CLINVAR Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. 16826531 2006
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		0.780 Biomarker disease GENOMICS_ENGLAND Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. 16826520 2006
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		0.780 Biomarker disease GENOMICS_ENGLAND