Disorder "Alzheimer's Disease"
Found 124 records
Disorder information
Disorder name:
Alzheimer's Disease
Disoder ID:
Synonyms:
Alzheimer disease, Alzheimers dementia
Definition:
A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads.
Modifier statisitcs
Record:
124
Gene:
64
Variant:
115
Reference:
37
Effect type:
Expressivity(97)
,Penetrance(27)
Modifier effect:
Altered onset time(62)
,Altered incidence(27)
,Risk factor(25)
,Risk factor and Altered onset time(3)
,Altered gene activity(2)
,Altered cognitive performances(1)
,Altered intraocular pressure(1)
,Altered optic nerve damage(1)
,Altered severity(1)
,Altered severity and onset time(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| APP | APP:c.2017G>A(p.Ala673Thr) | Expressivity | Risk factor and Altered onset time | Pedigree analysis | Reduced risk of Alzheimer disease or Early onset Alzheimer diseasemore | more |
| APP:c.2017G>A(p.Ala673Thr) | Penetrance | Altered incidence | P=4.19×10(-5) | APP may protect against the diseasemore | more | |
| APP:c.2149G>A(p.Val717Ile) | Expressivity | Risk factor and Altered onset time | Pedigree analysis | Reduced risk of Alzheimer disease or Early onset Alzheimer diseasemore | more | |
| APOE | APOE:c.-219G | Expressivity | Altered optic nerve damage | Gene activity study | APOE(-219G) is associated with increased optic nerve damagemore | more |
| APOE:c.-491A>T | Expressivity | Altered cognitive performances | Assessment of genotype–phenotype associations | Patients carrying the -491 AA genotype had poorer cognitive performances than the -491 AT ones,more | more | |
| APOE:c.-491A>T | Expressivity | Altered intraocular pressure | Gene activity study | APOE(-491T) is associated with increased intraocular pressure (IOP) and with limited effectiveness of IOP-lowering treatments in patients with POAG.more | more | |
| APOE:c.604C>T(p.Arg202Cys) | Expressivity | Altered onset time | Beta=11.74, 95% CI: 8.07-15.41, P=6.31×10(-8), P(FDR)=2.48×10(-3) | APOE*E2 allele delays age of onset in PSEN1 E280A Alzheimer's diseasemore | more | |
| APOE | Expressivity | Altered onset time | From review article | E4 allele associates with earlier age at onset for AD, E2 allele carriers may be protected against late-onset ADmore | more | |
| ALOX5 | ALOX5:c.1761G>A | Expressivity | Risk factor | From review article | Genetic polymorphisms in the promoter region can contribute to draw a risk phenotype of AD.more | more |
| AGBL3 | AGBL3:c.154C>T(p.Arg52Trp) | Expressivity | Altered onset time | P(FDR)=4.91×10(-2) | Genome-wide statistically significant mutations of major modifier effect on the the age of onset (AOO) in Azheimer's diseasemore | more |