MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Neonatal encephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0235820
Disease: Neonatal encephalopathy
Neonatal encephalopathy 		0.100 GeneticVariation disease BEFREE Mutations in methyl-CpG-binding protein 2 (MECP2) in males can lead to various phenotypes, ranging from neonatal encephalopathy to intellectual disability. 31536832 2020
CUI: C0235820
Disease: Neonatal encephalopathy
Neonatal encephalopathy 		0.100 GeneticVariation disease BEFREE We report a case of MECP2 mutation in a male patient who exhibited neonatal encephalopathy. 29631775 2018
CUI: C0235820
Disease: Neonatal encephalopathy
Neonatal encephalopathy 		0.100 GeneticVariation disease BEFREE A rare MeCP2_e1 mutation first described in a male patient with severe neonatal encephalopathy. 27090848 2016
CUI: C0235820
Disease: Neonatal encephalopathy
Neonatal encephalopathy 		0.100 GeneticVariation disease BEFREE Although it was initially thought that MECP2 pathogenic mutations in males were not compatible with life, starting from 1999 about 60 male patients have been identified and their phenotype varies from severe neonatal encephalopathy to mild intellectual disability. 26490184 2016
CUI: C0235820
Disease: Neonatal encephalopathy
Neonatal encephalopathy 		0.100 Biomarker disease BEFREE Methyl-CpG binding protein 2 gene (MECP2) testing is indicated for patients with numerous clinical presentations, including Rett syndrome (classic and atypical), unexplained neonatal encephalopathy, Angelman syndrome, nonspecific mental retardation, autism (females), and an X-linked family history of developmental delay. 22123427 2012
CUI: C0235820
Disease: Neonatal encephalopathy
Neonatal encephalopathy 		0.100 GeneticVariation disease BEFREE In this study we present a new clinical association of severe neonatal encephalopathy (Lubs syndrome) and HSCR, in a male patient carrying a duplication at the Xq28 region which encompasses the MECP2 and L1CAM genes. 20860806 2010
CUI: C0235820
Disease: Neonatal encephalopathy
Neonatal encephalopathy 		0.100 GeneticVariation disease BEFREE Males with MECP2 mutations present with a broad spectrum of phenotypes ranging from neonatal encephalopathy to nonsyndromic mental retardation (MR). 20098342 2010
CUI: C0235820
Disease: Neonatal encephalopathy
Neonatal encephalopathy 		0.100 GeneticVariation disease BEFREE In this study, DNA samples from individuals with schizophrenia and other psychiatric diseases were scanned in order to explore whether the phenotypic spectrum of mutations in the MECP2 gene can extend beyond the traditional diagnoses of RTT in females and severe neonatal encephalopathy in males. 15211631 2004
CUI: C0235820
Disease: Neonatal encephalopathy
Neonatal encephalopathy 		0.100 GeneticVariation disease BEFREE Neonatal encephalopathy in males is part of a spectrum of disorders caused by MECP2 dysfunction. 12719401 2003
CUI: C0235820
Disease: Neonatal encephalopathy
Neonatal encephalopathy 		0.100 GeneticVariation disease BEFREE Mutations in the MECP2 gene are involved in a broad spectrum of phenotypes from classical Rett syndrome to mild intellectual difficulties in females and neonatal encephalopathy in males. 14529314 2003
CUI: C0235820
Disease: Neonatal encephalopathy
Neonatal encephalopathy 		0.100 Biomarker disease BEFREE We conclude that MECP2 screening should be considered in males with severe neonatal encephalopathy and in males and females with a bilateral polymicrogyria syndrome. 11930274 2002
CUI: C0235820
Disease: Neonatal encephalopathy
Neonatal encephalopathy 		0.100 GeneticVariation disease BEFREE MECP2 mutations have subsequently been identified in patients with a variety of clinical syndromes ranging from mild learning disability in females to severe mental retardation, seizures, ataxia, and sometimes neonatal encephalopathy in males. 11262731 2001
CUI: C0235820
Disease: Neonatal encephalopathy
Neonatal encephalopathy 		0.100 GeneticVariation disease BEFREE The unmitigated impact of mutant MECP2 can be inferred from the few males who have been born into RTT kindreds with such severe neonatal encephalopathy that they did not survive their second year. 11180222 2000