NOTCH3, notch receptor 3, 4854

N. diseases: 418; N. variants: 71
Disease: Hemiparaesthesia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1399357
Disease: Hemiparaesthesia
Hemiparaesthesia 		0.010 GeneticVariation phenotype BEFREE Based on a structured questionnaire and medical records, the authors found that 12 of 25 mothers with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with the R133C NOTCH3 mutation had had neurologic symptoms in 17 of their 43 pregnancies, most commonly hemiparesthesia (76%), hemiparesis (36%), aphasia (65%), and visual disorders (47%). 15851739 2005