RANBP2, RAN binding protein 2, 5903

N. diseases: 110; N. variants: 57
Disease: Acute necrotizing encephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855020
Disease: Acute necrotizing encephalopathy
Acute necrotizing encephalopathy 		0.090 GeneticVariation disease BEFREE We report the cases of two Korean siblings with typical ANE and RANBP2 mutation. 28336122 2017
CUI: C1855020
Disease: Acute necrotizing encephalopathy
Acute necrotizing encephalopathy 		0.090 GeneticVariation disease BEFREE In the other patient we observed a novel de novo missense mutation p.Trp681Cys in the RANBP2 gene causing recurrent ANE. 26923722 2016
CUI: C1855020
Disease: Acute necrotizing encephalopathy
Acute necrotizing encephalopathy 		0.090 GeneticVariation disease BEFREE This is a description of a three and half years old girl with recurrent ANE with RANBP2 mutation (c.1754 C>T (p.T585M)). 27591117 2016
CUI: C1855020
Disease: Acute necrotizing encephalopathy
Acute necrotizing encephalopathy 		0.090 GeneticVariation disease BEFREE RANBP2 mutation and acute necrotizing encephalopathy: 2 cases and a literature review of the expanding clinico-radiological phenotype. 25522933 2015
CUI: C1855020
Disease: Acute necrotizing encephalopathy
Acute necrotizing encephalopathy 		0.090 GeneticVariation disease BEFREE We present a case of a 36-year-old female patient with a rare genetic disorder (ANE1: Acute Necrotizing Encephalopathy due to a RANBP2 mutation) who presented with an acute quadriplegia. 23329376 2013
CUI: C1855020
Disease: Acute necrotizing encephalopathy
Acute necrotizing encephalopathy 		0.090 GeneticVariation disease BEFREE An autosomal dominant viral acute necrotizing encephalopathy (ANE) was recently found to have missense mutations in the gene Ran-binding 2 (RANBP2). 20455276 2010
CUI: C1855020
Disease: Acute necrotizing encephalopathy
Acute necrotizing encephalopathy 		0.090 GeneticVariation disease BEFREE Both the patient and her mother, who had also had postviral polyneuritis in the past, harbour a mutation in Ran-binding protein 2 (RANBP2); this occurred de novo in the mother and confers genetic susceptibility to ANE. 19811512 2010
CUI: C1855020
Disease: Acute necrotizing encephalopathy
Acute necrotizing encephalopathy 		0.090 GeneticVariation disease BEFREE Missense mutations in RANBP2 cause the majority of familial and recurrent ANE cases, but other single-gene causes of ANE are possible for familial, recurrent, and sporadic cases. 21610332 2010
CUI: C1855020
Disease: Acute necrotizing encephalopathy
Acute necrotizing encephalopathy 		0.090 GeneticVariation disease BEFREE None of the three RANBP2 missense mutations were found in 19 patients with isolated ANE or in unaffected controls. 19118815 2009