NOTCH3, notch receptor 3, 4854

N. diseases: 418; N. variants: 71
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation disease BEFREE Mutations in NOTCH3 causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a hereditary cerebrovascular disease that leads to ischemic strokes and dementia, but in which migraine is often present, sometimes long before the onset of other symptoms. 28271496 2017
CUI: C0497327
Disease: Dementia
Dementia
0.500 Biomarker disease BEFREE Twenty-six patients with CADASIL without dementia (Mini-Mental State Examination score > 24 and no cognitive symptoms) and without disability (modified Rankin Scale score ≤ 1) were compared with 29 age- and sex-matched controls. 28912283 2017
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation disease BEFREE Mutations in NOTCH 3 are the cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a neurological disorder characterized by stroke, and vascular cognitive impairment and dementia. 27174004 2016
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation disease BEFREE Because heritable autosomal dominant mutations of NLRP3, APP, TREX1, NOTCH3, and Col4A1 are known to provoke inflammatory reactions and damage the brain in a wide variety of diseases, I propose that one or more low abundant, gain-of-function somatic mutations of the same 5 gene families damage the microvasculature of the brain that leads to dementia. 26527064 2016
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation disease BEFREE CADASIL is an autosomal dominant inherited disease, characterized by mid-adult onset of cerebrovascular disease and dementia. 24844136 2014
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation disease BEFREE Since NOTCH 3 mutants clearly damage small blood vessels of white matter regions of the brain that lead to dementia, we speculate that both forms of dementia may have a similar pathogenesis, which is to cause ischemic damage by blocking blood flow or by impeding the removal of toxic protein aggregates by retrograde vascular clearance mechanisms. 24378989 2014
CUI: C0497327
Disease: Dementia
Dementia
0.500 Biomarker disease BEFREE CADASIL is an inherited small vessel disease characterized by diverse clinical manifestations including vasculopathy, neurodegeneration and dementia. 23720232 2013
CUI: C0497327
Disease: Dementia
Dementia
0.500 Biomarker disease BEFREE CADASIL is considered a unique model to investigate migraine with aura, stroke, and dementia related to ischemic small vessel disease. 22033996 2012
CUI: C0497327
Disease: Dementia
Dementia
0.500 Biomarker disease GENOMICS_ENGLAND Cysteine-sparing notch3 mutations: cadasil or cadasil variants? 19528524 2009
CUI: C0497327
Disease: Dementia
Dementia
0.500 Biomarker disease BEFREE Notch signaling is critically important for proper architecture of the vascular system, and mutations in NOTCH3 are associated with CADASIL, a stroke and dementia syndrome with vascular smooth muscle cell (VSMC) dysfunction. 18483410 2008
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation disease BEFREE Thirty-eight CADASIL patients (19 to 61 years old; 20 in a prestroke group, 15 in a stroke group, and 3 in a dementia group), all with the R133C NOTCH3 mutation and including one homozygous patient, underwent a detailed ophthalmologic examination. 16877080 2006
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation disease BEFREE Mutations in the NOTCH3 gene cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), which is clinically characterised by recurrent ischemic strokes, migraine with aura, psychiatric symptoms, cognitive decline and dementia. 16807713 2006
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation disease BEFREE Mutations in the NOTCH3 gene are the cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a hereditary angiopathy leading to strokes and dementia. 15350543 2004
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation disease BEFREE Mutations in NOTCH3 are the cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) an inherited small vessel disease leading to subcortical strokes and dementia. 12417361 2002
CUI: C0497327
Disease: Dementia
Dementia
0.500 AlteredExpression disease BEFREE Mouse Notch 3 expression in the pre- and postnatal brain: relationship to the stroke and dementia syndrome CADASIL. 12126955 2002
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation disease BEFREE We here report the case of a 69-year-old woman with recurrent transient ischemic attacks (TIAs) and strokes, seizures, and dementia without any mutations in exons 3 and 4 of the Notch3 gene and with a normal skin biopsy, but who showed characteristic CADASIL abnormalities on brain pathological examination. 11718749 2001
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation disease BEFREE CADASIL, an autosomal dominant arteriopathy responsible for stroke and dementia, is caused by strongly stereotyped mutations in the Notch3 gene. 10716263 2000
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation disease BEFREE Mutations in Notch3 cause CADASIL (cerebral autosomal dominant adult onset arteriopathy), which leads to stroke and dementia in humans. 10712431 2000
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation disease BEFREE CADASIL, a recently identified autosomal dominant condition characterized by the recurrence of subcortical infarcts leading to dementia, was previously mapped to chromosome 19p13.1 within a 2-cM interval, D19S226-D19S199. 8954801 1996
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation disease BEFREE Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. 8878478 1996
CUI: C0497327
Disease: Dementia
Dementia
0.500 Biomarker disease HPO