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FAD
MCID: ERL029
MIFTS: 59

Early-Onset, Autosomal Dominant Alzheimer Disease (FAD)

Categories: Cardiovascular diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Early-Onset, Autosomal Dominant Alzheimer Disease

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MalaCards integrated aliases for Early-Onset, Autosomal Dominant Alzheimer Disease:

Name: Early-Onset, Autosomal Dominant Alzheimer Disease 20
Early-Onset Autosomal Dominant Alzheimer Disease 20 58 29 6
Familial Alzheimer Disease 20 58 29 70
Early-Onset Familial Autosomal Dominant Alzheimer Disease 20 58
Eofad 20 58
Fad 20

Characteristics:

Orphanet epidemiological data:

58
early-onset autosomal dominant alzheimer disease
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: adult;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases Mental diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases


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Summaries for Early-Onset, Autosomal Dominant Alzheimer Disease

About this section
GARD : 20 Early-onset, autosomal dominant Alzheimer disease is a form of Alzheimer disease (AD) that develops before the age of 65. It is diagnosed in families that have more than one member with AD (usually multiple persons in more than one generation) in which the age of onset is consistently before age 60 and often between the ages of 30 and 60 years. In general, AD is a degenerative disease of the brain that causes gradual loss of memory, judgement, and the ability to function socially. There are three subtypes of early-onset familial AD which are each associated with changes ( mutations ) in unique genes : (1) Alzheimer disease, type 1 is caused by mutations in the APP gene (2) Alzheimer disease, type 3 is caused by mutations in the PSEN1 gene (3) Alzheimer disease, type 4 is caused by mutations in the PSEN2 gene. All subtypes are inherited in an autosomal dominant manner. There is no cure for AD. Treatment is supportive and based on the signs and symptoms present in each person.

MalaCards based summary : Early-Onset, Autosomal Dominant Alzheimer Disease, also known as early-onset autosomal dominant alzheimer disease, is related to alzheimer disease 2 and alzheimer's disease 1. An important gene associated with Early-Onset, Autosomal Dominant Alzheimer Disease is PSEN1 (Presenilin 1), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Neuroscience. The drugs Dopamine and Bromocriptine have been mentioned in the context of this disorder. Affiliated tissues include cortex, cerebellum and ovary, and related phenotypes are hallucinations and hypertonia

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Related Diseases for Early-Onset, Autosomal Dominant Alzheimer Disease

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Diseases in the Alzheimer Disease family:

Alzheimer Disease 2 Alzheimer Disease 16
Alzheimer Disease 5 Alzheimer Disease 15
Alzheimer Disease 6 Alzheimer Disease 7
Alzheimer Disease 4 Alzheimer Disease 8
Alzheimer Disease 3 Alzheimer Disease 9
Alzheimer Disease 10 Alzheimer Disease 11
Alzheimer Disease 12 Alzheimer Disease 13
Alzheimer Disease 14 Alzheimer Disease 17
Alzheimer Disease 18 Alzheimer Disease 19
Alzheimer's Disease 1 Early-Onset, Autosomal Dominant Alzheimer Disease

Diseases related to Early-Onset, Autosomal Dominant Alzheimer Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 113)
# Related Disease Score Top Affiliating Genes
1 alzheimer disease 2 32.1 PSEN2 PSEN1 MAPT APP APOE
2 alzheimer's disease 1 30.6 APP APOE
3 alzheimer disease 4 30.4 PSEN2 PSEN1 APOE ABCA7
4 alzheimer disease 3 30.3 PSEN2 PSEN1 APP APOE
5 down syndrome 30.1 PSEN1 MAPT APP APOE
6 amyloidosis 29.9 PSEN1 MAPT APP APOE
7 mild cognitive impairment 29.6 SORL1 MAPT APP APOE
8 creutzfeldt-jakob disease 29.5 MAPT APP APOE
9 mutism 29.3 MAPT GRN
10 parkinson disease, late-onset 28.5 VCP SORL1 PSEN2 PSEN1 MT-ND1 MAPT
11 pick disease of brain 28.5 VCP TREM2 PSEN2 PSEN1 MAPT GRN
12 supranuclear palsy, progressive, 1 28.1 VCP TREM2 PSEN2 PSEN1 MAPT GRN
13 amyotrophic lateral sclerosis 1 28.1 VCP TREM2 PSEN2 PSEN1 MAPT GRN
14 dementia 27.3 VCP TREM2 SORL1 PSEN2 PSEN1 MT-ND1
15 frontotemporal dementia 27.1 VCP TREM2 TOMM40 SORL1 PSEN2 PSEN1
16 alzheimer disease 26.3 VCP TREM2 TOMM40 SORL1 PSEN2 PSEN1
17 residual stage of open angle glaucoma 10.3 APP APOE
18 senile plaque formation 10.3 APP APOE
19 anosognosia 10.3 PSEN1 APOE
20 transferrin serum level quantitative trait locus 2 10.2 HFE-AS1 HFE
21 microvascular complications of diabetes 7 10.2 HFE-AS1 HFE
22 cerebral amyloid angiopathy, itm2b-related, 1 10.2 PSEN2 PSEN1 APP
23 apperceptive agnosia 10.2 PSEN2 GRN
24 familial porphyria cutanea tarda 10.2 HFE-AS1 HFE
25 acne inversa, familial, 3 10.2
26 subjective cognitive decline 10.1 MAPT APOE
27 posterior cortical atrophy 10.1 MAPT APOE
28 parkinsonism 10.1
29 myoclonus 10.1
30 alzheimer disease 10 10.1 MAPT APOE
31 chromosome 17q21.31 duplication syndrome 10.1 MAPT APP
32 wilson disease 10.1 HFE APP APOE
33 cerebral amyloid angiopathy, app-related 10.1 PSEN2 PSEN1 APP APOE
34 chromosomal disease 10.0 PSEN2 PSEN1 APP APOE
35 binswanger's disease 10.0 MAPT APP APOE
36 age-related hearing loss 10.0 MAPT APOE
37 arteriolosclerosis 10.0 MAPT APP APOE
38 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.0 MAPT GRN
39 cerebral degeneration 10.0 CSF1R APP APOE
40 scrapie 10.0 MAPT APP APOE
41 alzheimer disease 9 10.0 PSEN1 MAPT ABCA7
42 dysgraphia 9.9 MAPT GRN
43 primary progressive multiple sclerosis 9.9 GRN CSF1R APOE
44 brain injury 9.9 MAPT APOE
45 prosopagnosia 9.9 PSEN2 MAPT GRN
46 communicating hydrocephalus 9.9 PSEN1 MAPT APP APOE
47 hydrocephalus 9.9 PSEN1 MAPT APP APOE
48 gerstmann-straussler disease 9.9 PSEN2 PSEN1 MAPT APP
49 amnestic disorder 9.9 PSEN1 MAPT APP APOE
50 normal pressure hydrocephalus 9.9 PSEN1 MAPT APP APOE

Graphical network of the top 20 diseases related to Early-Onset, Autosomal Dominant Alzheimer Disease:



Diseases related to Early-Onset, Autosomal Dominant Alzheimer Disease
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Symptoms & Phenotypes for Early-Onset, Autosomal Dominant Alzheimer Disease

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Human phenotypes related to Early-Onset, Autosomal Dominant Alzheimer Disease:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hallucinations 58 31 hallmark (90%) Very frequent (99-80%) HP:0000738
2 hypertonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001276
3 myoclonus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001336
4 cerebral cortical atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002120
5 abnormal social behavior 58 31 hallmark (90%) Very frequent (99-80%) HP:0012433
6 memory impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002354
7 confusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0001289
8 parkinsonism 58 31 hallmark (90%) Very frequent (99-80%) HP:0001300
9 agitation 58 31 hallmark (90%) Very frequent (99-80%) HP:0000713
10 language impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002463
11 neurofibrillary tangles 58 31 hallmark (90%) Very frequent (99-80%) HP:0002185
12 deposits immunoreactive to beta-amyloid protein 58 31 hallmark (90%) Very frequent (99-80%) HP:0003791
13 seizure 31 hallmark (90%) HP:0001250
14 disinhibition 58 31 frequent (33%) Frequent (79-30%) HP:0000734
15 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
16 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
17 abnormality of vision 58 31 occasional (7.5%) Occasional (29-5%) HP:0000504
18 dysgraphia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010526
19 aphasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002381
20 oculomotor apraxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000657
21 finger agnosia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010525
22 semantic dementia 58 31 occasional (7.5%) Occasional (29-5%) HP:0030219
23 seizures 58 Very frequent (99-80%)
24 dementia 58 Very frequent (99-80%)
25 abnormality of higher mental function 58 Occasional (29-5%)
26 apraxia 58 Occasional (29-5%)
27 neurodevelopmental abnormality 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Early-Onset, Autosomal Dominant Alzheimer Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.26 ABCA7 APOE APP CSF1R GRN HFE
2 cellular MP:0005384 10.13 APOE APP CSF1R GRN HFE MAPT
3 cardiovascular system MP:0005385 10.11 ABCA7 APOE APP MAPT PSEN1 PSEN2
4 homeostasis/metabolism MP:0005376 10.11 ABCA7 APOE APP CSF1R GRN HFE
5 hematopoietic system MP:0005397 10.1 APOE APP CSF1R GRN HFE MAPT
6 immune system MP:0005387 10.02 APOE APP CSF1R GRN HFE MAPT
7 integument MP:0010771 9.86 APOE APP CSF1R GRN MAPT PSEN1
8 nervous system MP:0003631 9.73 ABCA7 APOE APP CSF1R GRN HFE
9 limbs/digits/tail MP:0005371 9.7 APOE APP CSF1R HFE PSEN1 PSEN2
10 no phenotypic analysis MP:0003012 9.17 APOE APP CSF1R GRN HFE MAPT
Sources

Drugs & Therapeutics for Early-Onset, Autosomal Dominant Alzheimer Disease

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Drugs for Early-Onset, Autosomal Dominant Alzheimer Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 1, Phase 2 62-31-7, 51-61-6 681
2
Bromocriptine Approved, Investigational Phase 1, Phase 2 25614-03-3 31101
3 Dopamine Agents Phase 1, Phase 2
4 Hormone Antagonists Phase 1, Phase 2
5 Neurotransmitter Agents Phase 1, Phase 2
6 Hormones Phase 1, Phase 2
7 Dopamine agonists Phase 1, Phase 2
8 Antiparkinson Agents Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Double-Blind Comparative Trial and Open-Label Extension Trial to Investigate the Safety and Efficacy of TW-012R in Alzheimer's Disease With Presenilin 1 (PSEN1) Mutations Recruiting NCT04413344 Phase 1, Phase 2 Bromocriptine;Placebos
2 Biochemical and Genetic Studies in Familial Alzheimer's Disease Completed NCT00001235
3 A Multi-center Longitudinal Cohort Study of Familial Alzheimer's Disease in China Recruiting NCT03657732

Search NIH Clinical Center for Early-Onset, Autosomal Dominant Alzheimer Disease

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Genetic Tests for Early-Onset, Autosomal Dominant Alzheimer Disease

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Genetic tests related to Early-Onset, Autosomal Dominant Alzheimer Disease:

# Genetic test Affiliating Genes
1 Early-Onset Autosomal Dominant Alzheimer Disease 29
2 Familial Alzheimer Disease 29
Sources

Anatomical Context for Early-Onset, Autosomal Dominant Alzheimer Disease

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MalaCards organs/tissues related to Early-Onset, Autosomal Dominant Alzheimer Disease:

40
Cortex, Cerebellum, Ovary, Neutrophil
Sources

Publications for Early-Onset, Autosomal Dominant Alzheimer Disease

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Articles related to Early-Onset, Autosomal Dominant Alzheimer Disease:

(show top 50) (show all 509)
# Title Authors PMID Year
1
Neuropathology and biochemistry of early onset familial Alzheimer's disease caused by presenilin-1 missense mutation Thr116Asn. 6 61
29404783 2018
2
Familial Alzheimer disease presenilin-1 mutations alter the active site conformation of γ-secretase. 6 61
22461631 2012
3
Proteomic changes in cerebrospinal fluid of presymptomatic and affected persons carrying familial Alzheimer disease mutations. 6 61
22232349 2012
4
Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation. 61 6
20164095 2010
5
Prominent neuroleptic sensitivity in a case of early-onset Alzheimer disease due to presenilin-1 G206A mutation. 61 6
18797263 2008
6
Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1. 6 61
18580586 2008
7
A novel PSEN2 mutation associated with a peculiar phenotype. 61 6
18427071 2008
8
Familial Alzheimer disease-linked mutations specifically disrupt Ca2+ leak function of presenilin 1. 61 6
17431506 2007
9
Lewy body pathology in familial Alzheimer disease: evidence for disease- and mutation-specific pathologic phenotype. 6 61
16533963 2006
10
Novel mutations and repeated findings of mutations in familial Alzheimer disease. 61 6
15776278 2005
11
Identification of new presenilin gene mutations in early-onset familial Alzheimer disease. 61 6
14623725 2003
12
A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease. 6 61
12925374 2003
13
A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease. 61 6
12484344 2002
14
High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes. 61 6
10631141 2000
15
Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. 6 61
10441572 1999
16
The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid beta protein ending at the 42nd (or 43rd) residue. 6 61
9050898 1997
17
APOE4 leads to blood-brain barrier dysfunction predicting cognitive decline. 6
32376954 2020
18
A novel mutation in PSEN1 (p.T119I) in an Argentine family with early- and late-onset Alzheimer's disease. 6
31153663 2020
19
Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report. 6
31686034 2019
20
Genetic analysis of neurodegenerative diseases in a pathology cohort. 6
30528841 2019
21
Altered γ-Secretase Processing of APP Disrupts Lysosome and Autophagosome Function in Monogenic Alzheimer's Disease. 6
30590039 2018
22
The Whole Exome Sequencing Clarifies the Genotype- Phenotype Correlations in Patients with Early-Onset Dementia. 6
30090657 2018
23
Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network. 6
30045758 2018
24
A novel presenilin 1 mutation (Leu418Trp) associated with spasticity, parkinsonism, and white matter lesion in a dominant Alzheimer's family. 6
29571857 2018
25
PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder. 6
29316780 2018
26
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. 6
28350801 2017
27
Clinical, imaging, pathological, and biochemical characterization of a novel presenilin 1 mutation (N135Y) causing Alzheimer's disease. 6
27793474 2017
28
APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review. 6
27858710 2017
29
Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase. 6
27930341 2017
30
Clinical characterization of an APP mutation (V717I) in five Han Chinese families with early-onset Alzheimer's disease. 6
27838006 2017
31
Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series. 6
27777022 2016
32
Widespread white matter and conduction defects in PSEN1-related spastic paraparesis. 6
27614114 2016
33
Phenotypic Similarities Between Late-Onset Autosomal Dominant and Sporadic Alzheimer Disease: A Single-Family Case-Control Study. 6
27454811 2016
34
[Mutation analysis of presenilin 1 gene in a Chinese family affected with early-onset familial Alzheimer's disease]. 6
27264813 2016
35
Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction. 6
27206484 2016
36
Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain. 6
27100200 2016
37
Familial Alzheimer's Disease Mutations in Presenilin Generate Amyloidogenic Aβ Peptide Seeds. 6
27100199 2016
38
Iowa APP mutation-related hereditary cerebral amyloid angiopathy (CAA): A new family from Spain. 6
27000221 2016
39
Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency. 6
26923592 2016
40
A systematic review of familial Alzheimer's disease: Differences in presentation of clinical features among three mutated genes and potential ethnic differences. 6
26337232 2016
41
The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida. 6
27073747 2016
42
Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD. 6
27014058 2016
43
Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease. 6
26166204 2015
44
Iowa-type hereditary cerebral amyloid angiopathy in a Polish family. 6
26104569 2015
45
De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease. 6
26194182 2015
46
APP metabolism regulates tau proteostasis in human cerebral cortex neurons. 6
25921538 2015
47
Presenilin-1 knockin mice reveal loss-of-function mechanism for familial Alzheimer's disease. 6
25741723 2015
48
Mutation analysis of patients with neurodegenerative disorders using NeuroX array. 6
25174650 2015
49
Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation. 6
25471389 2015
50
Modeling the Aggregation Propensity and Toxicity of Amyloid-β Variants. 6
26402770 2015
Sources

Variations for Early-Onset, Autosomal Dominant Alzheimer Disease

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ClinVar genetic disease variations for Early-Onset, Autosomal Dominant Alzheimer Disease:

6 (show top 50) (show all 470)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PSEN1 PSEN1, IVS8AS, G-T, -1 Deletion Pathogenic 18134 GRCh37:
GRCh38:
2 PSEN1 PSEN1, IVS4DS, 1-BP DEL, G Deletion Pathogenic 18140 GRCh37:
GRCh38:
3 PSEN1 nsv1067886 Deletion Pathogenic 38296 GRCh37: 14:73671470-73676025
GRCh38: 14:73204762-73209317
4 PSEN2 NC_000001.11:g.(?_226881888)_(226895599_?)del Deletion Pathogenic 533784 GRCh37: 1:227069589-227083300
GRCh38: 1:226881888-226895599
5 APP NM_000484.4(APP):c.2018C>T (p.Ala673Val) SNV Pathogenic 18106 rs193922916 GRCh37: 21:27269931-27269931
GRCh38: 21:25897619-25897619
6 overlap with 25 genes NC_000021.7:g.13636378_28138533dup Duplication Pathogenic 127268 GRCh37: 21:14714507-29216662
GRCh38:
7 APP NM_000484.4(APP):c.2080G>A (p.Asp694Asn) SNV Pathogenic 18101 rs63749810 GRCh37: 21:27264165-27264165
GRCh38: 21:25891853-25891853
8 APP NM_000484.4(APP):c.2075C>G (p.Ala692Gly) SNV Pathogenic 18091 rs63750671 GRCh37: 21:27264170-27264170
GRCh38: 21:25891858-25891858
9 APP NM_000484.4(APP):c.2078A>G (p.Glu693Gly) SNV Pathogenic 18098 rs63751039 GRCh37: 21:27264167-27264167
GRCh38: 21:25891855-25891855
10 APP NM_000484.4(APP):c.2010_2011inv (p.Lys670_Met671delinsAsnLeu) Inversion Pathogenic 18093 rs281865161 GRCh37: 21:27269938-27269939
GRCh38: 21:25897626-25897627
11 APP NM_000484.4(APP):c.2149G>T (p.Val717Phe) SNV Pathogenic 18089 rs63750264 GRCh37: 21:27264096-27264096
GRCh38: 21:25891784-25891784
12 PSEN1 NM_000021.4(PSEN1):c.1141C>G (p.Leu381Val) SNV Pathogenic 98101 rs63750687 GRCh37: 14:73683845-73683845
GRCh38: 14:73217137-73217137
13 PSEN1 NM_000021.4(PSEN1):c.548G>T (p.Gly183Val) SNV Pathogenic 18149 rs63751068 GRCh37: 14:73653628-73653628
GRCh38: 14:73186920-73186920
14 PSEN1 NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) SNV Pathogenic 18145 rs63751399 GRCh37: 14:73637755-73637755
GRCh38: 14:73171047-73171047
15 PSEN1 NM_000021.4(PSEN1):c.265G>T (p.Val89Leu) SNV Pathogenic 21027 rs63750815 GRCh37: 14:73637682-73637682
GRCh38: 14:73170974-73170974
16 PSEN1 NM_000021.4(PSEN1):c.1175T>C (p.Leu392Pro) SNV Pathogenic 21026 rs63750218 GRCh37: 14:73683879-73683879
GRCh38: 14:73217171-73217171
17 PSEN1 NM_000021.4(PSEN1):c.509C>T (p.Ser170Phe) SNV Pathogenic 18158 rs63750577 GRCh37: 14:73653589-73653589
GRCh38: 14:73186881-73186881
18 PSEN1 NM_000021.4(PSEN1):c.236C>T (p.Ala79Val) SNV Pathogenic 18157 rs63749824 GRCh37: 14:73637653-73637653
GRCh38: 14:73170945-73170945
19 PSEN1 NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu) SNV Pathogenic 18155 rs63750083 GRCh37: 14:73685885-73685885
GRCh38: 14:73219177-73219177
20 PSEN1 NM_000021.4(PSEN1):c.833G>T (p.Arg278Ile) SNV Pathogenic 18152 rs63749891 GRCh37: 14:73664802-73664802
GRCh38: 14:73198094-73198094
21 PSEN1 NM_000021.4(PSEN1):c.1307C>A (p.Pro436Gln) SNV Pathogenic 18150 rs121917808 GRCh37: 14:73685900-73685900
GRCh38: 14:73219192-73219192
22 PSEN1 NM_000021.4(PSEN1):c.520C>A (p.Leu174Met) SNV Pathogenic 18147 rs63751144 GRCh37: 14:73653600-73653600
GRCh38: 14:73186892-73186892
23 PSEN1 NM_000021.4(PSEN1):c.497T>C (p.Leu166Pro) SNV Pathogenic 18146 rs63750265 GRCh37: 14:73653577-73653577
GRCh38: 14:73186869-73186869
24 PSEN1 NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) SNV Pathogenic 18143 rs63750082 GRCh37: 14:73659420-73659420
GRCh38: 14:73192712-73192712
25 PSEN1 NM_000021.4(PSEN1):c.275G>C (p.Cys92Ser) SNV Pathogenic 18142 rs63751141 GRCh37: 14:73637692-73637692
GRCh38: 14:73170984-73170984
26 PSEN1 NM_000021.4(PSEN1):c.749T>C (p.Leu250Ser) SNV Pathogenic 18138 rs63751163 GRCh37: 14:73659552-73659552
GRCh38: 14:73192844-73192844
27 PSEN1 NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) SNV Pathogenic 18136 rs63751223 GRCh37: 14:73685869-73685869
GRCh38: 14:73219161-73219161
28 PSEN1 NM_000021.4(PSEN1):c.360A>T (p.Glu120Asp) SNV Pathogenic 18135 rs63751272 GRCh37: 14:73640295-73640295
GRCh38: 14:73173587-73173587
29 PSEN1 NM_000021.4(PSEN1):c.799C>T (p.Pro267Ser) SNV Pathogenic 18133 rs63751229 GRCh37: 14:73664768-73664768
GRCh38: 14:73198060-73198060
30 PSEN1 NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala) SNV Pathogenic 18131 rs63750231 GRCh37: 14:73664808-73664808
GRCh38: 14:73198100-73198100
31 PSEN1 NM_000021.4(PSEN1):c.487C>T (p.His163Tyr) SNV Pathogenic 18130 rs63749885 GRCh37: 14:73653567-73653567
GRCh38: 14:73186859-73186859
32 PSEN1 NM_000021.4(PSEN1):c.436A>G (p.Met146Val) SNV Pathogenic 18129 rs63750306 GRCh37: 14:73640371-73640371
GRCh38: 14:73173663-73173663
33 PSEN1 NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) SNV Pathogenic 18127 rs661 GRCh37: 14:73683933-73683933
GRCh38: 14:73217225-73217225
34 PSEN1 NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu) SNV Pathogenic 18125 rs63750526 GRCh37: 14:73659540-73659540
GRCh38: 14:73192832-73192832
35 PSEN1 NM_000021.4(PSEN1):c.488A>G (p.His163Arg) SNV Pathogenic 18124 rs63750590 GRCh37: 14:73653568-73653568
GRCh38: 14:73186860-73186860
36 PSEN1 NM_000021.4(PSEN1):c.436A>C (p.Met146Leu) SNV Pathogenic 18123 rs63750306 GRCh37: 14:73640371-73640371
GRCh38: 14:73173663-73173663
37 PSEN1 NM_000021.4(PSEN1):c.767A>C (p.Tyr256Ser) SNV Pathogenic 21029 rs63751320 GRCh37: 14:73659570-73659570
GRCh38: 14:73192862-73192862
38 PSEN1 NM_000021.4(PSEN1):c.236C>T (p.Ala79Val) SNV Pathogenic 18157 rs63749824 GRCh37: 14:73637653-73637653
GRCh38: 14:73170945-73170945
39 PSEN1 NM_000021.4(PSEN1):c.488A>G (p.His163Arg) SNV Pathogenic 18124 rs63750590 GRCh37: 14:73653568-73653568
GRCh38: 14:73186860-73186860
40 PSEN1 NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu) SNV Pathogenic 18125 rs63750526 GRCh37: 14:73659540-73659540
GRCh38: 14:73192832-73192832
41 PSEN1 NM_000021.4(PSEN1):c.626G>T (p.Gly209Val) SNV Pathogenic 98053 rs63750053 GRCh37: 14:73659429-73659429
GRCh38: 14:73192721-73192721
42 PSEN1 NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) SNV Pathogenic 18127 rs661 GRCh37: 14:73683933-73683933
GRCh38: 14:73217225-73217225
43 PSEN1 NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu) SNV Pathogenic 18155 rs63750083 GRCh37: 14:73685885-73685885
GRCh38: 14:73219177-73219177
44 PSEN1 NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala) SNV Pathogenic 18131 rs63750231 GRCh37: 14:73664808-73664808
GRCh38: 14:73198100-73198100
45 PSEN1 NM_000021.4(PSEN1):c.869-2A>T SNV Pathogenic 579680 rs1566650594 GRCh37: 14:73673092-73673092
GRCh38: 14:73206384-73206384
46 PSEN1 NM_000021.4(PSEN1):c.424G>A (p.Val142Ile) SNV Pathogenic 599627 rs1566630910 GRCh37: 14:73640359-73640359
GRCh38: 14:73173651-73173651
47 PSEN1 NM_000021.4(PSEN1):c.347C>A (p.Thr116Asn) SNV Pathogenic 659639 rs63750730 GRCh37: 14:73640282-73640282
GRCh38: 14:73173574-73173574
48 PSEN1 NM_000021.4(PSEN1):c.697A>G (p.Met233Val) SNV Pathogenic 21028 rs63751287 GRCh37: 14:73659500-73659500
GRCh38: 14:73192792-73192792
49 PSEN1 NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) SNV Pathogenic 18143 rs63750082 GRCh37: 14:73659420-73659420
GRCh38: 14:73192712-73192712
50 PSEN1 NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser) SNV Pathogenic 98022 rs63751278 GRCh37: 14:73640339-73640339
GRCh38: 14:73173631-73173631
Sources

Expression for Early-Onset, Autosomal Dominant Alzheimer Disease

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Search GEO for disease gene expression data for Early-Onset, Autosomal Dominant Alzheimer Disease.
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Pathways for Early-Onset, Autosomal Dominant Alzheimer Disease

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Pathways related to Early-Onset, Autosomal Dominant Alzheimer Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Pathways of neurodegeneration - multiple diseases 36
Show member pathways
 13.1 VCP TOMM40 PSEN2 PSEN1 MT-ND1 MAPT
2
Neuroscience 4
12.03 TREM2 SORL1 PSEN2 PSEN1 MAPT APP
3
Presenilin-Mediated Signaling 63
11.73 PSEN2 PSEN1 APP
4
Alzheimers Disease 1
11.73 PSEN2 PSEN1 MAPT APP APOE
5
Reelin Pathway (Cajal-Retzius cells) 63
11.61 MAPT APP APOE
6
Canonical and Non-canonical Notch signaling 1
10.89 PSEN2 PSEN1
7
A-beta Pathways: Plaque Formation and APP Metabolism 64
10.79 PSEN2 PSEN1 APP
8
Alzheimers Disease Pathway 63
10.67 PSEN2 PSEN1 MAPT APP APOE
9
Notch Pathway 69
10.07 PSEN2 PSEN1
Sources

GO Terms for Early-Onset, Autosomal Dominant Alzheimer Disease

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Cellular components related to Early-Onset, Autosomal Dominant Alzheimer Disease according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.37 TREM2 TOMM40 SORL1 PSEN2 PSEN1 MT-ND1
2 plasma membrane GO:0005886 10.28 TREM2 SORL1 PSEN2 PSEN1 MAPT HFE
3 endoplasmic reticulum GO:0005783 10.07 VCP SORL1 PSEN2 PSEN1 GRN APOE
4 perinuclear region of cytoplasm GO:0048471 9.98 VCP PSEN2 PSEN1 HFE APP
5 integral component of plasma membrane GO:0005887 9.98 TREM2 SORL1 PSEN2 PSEN1 HFE CSF1R
6 endosome GO:0005768 9.97 SORL1 PSEN1 GRN APP ABCA7
7 Golgi apparatus GO:0005794 9.95 SORL1 PSEN2 PSEN1 GRN APP APOE
8 mitochondrial inner membrane GO:0005743 9.91 TOMM40 PSEN2 PSEN1 MT-ND1
9 membrane raft GO:0045121 9.81 PSEN2 PSEN1 MAPT APP
10 early endosome membrane GO:0031901 9.77 SORL1 PSEN1 ABCA7
11 recycling endosome GO:0055037 9.77 SORL1 HFE APP
12 neuronal cell body GO:0043025 9.77 PSEN2 PSEN1 MT-ND1 MAPT APOE
13 neuromuscular junction GO:0031594 9.67 PSEN2 PSEN1 APP
14 cell surface GO:0009986 9.63 SORL1 PSEN2 PSEN1 CSF1R APP ABCA7
15 growth cone GO:0030426 9.62 PSEN2 PSEN1 MAPT APP
16 smooth endoplasmic reticulum GO:0005790 9.61 PSEN1 APP
17 glial cell projection GO:0097386 9.57 MAPT ABCA7
18 nuclear envelope lumen GO:0005641 9.55 SORL1 APP
19 gamma-secretase complex GO:0070765 9.48 PSEN2 PSEN1
20 main axon GO:0044304 9.46 MAPT APP
21 dendritic shaft GO:0043198 9.43 PSEN2 PSEN1 APP
22 early endosome GO:0005769 9.35 SORL1 PSEN1 HFE APP APOE
23 ciliary rootlet GO:0035253 8.8 PSEN2 PSEN1 APP

Biological processes related to Early-Onset, Autosomal Dominant Alzheimer Disease according to GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 9.98 TREM2 PSEN1 APP APOE
2 negative regulation of gene expression GO:0010629 9.96 PSEN1 MAPT APP APOE
3 negative regulation of neuron apoptotic process GO:0043524 9.88 PSEN1 GRN APOE
4 cellular protein metabolic process GO:0044267 9.88 SORL1 PSEN1 APP APOE
5 neuron projection development GO:0031175 9.87 MAPT APP APOE
6 response to oxidative stress GO:0006979 9.86 PSEN1 APP APOE
7 positive regulation of protein phosphorylation GO:0001934 9.86 TREM2 PSEN1 CSF1R APP
8 Notch signaling pathway GO:0007219 9.85 PSEN2 PSEN1 APP
9 memory GO:0007613 9.79 PSEN1 MAPT ABCA7
10 positive regulation of protein binding GO:0032092 9.77 PSEN1 HFE APP
11 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.77 TREM2 CSF1R APP APOE ABCA7
12 learning or memory GO:0007611 9.76 PSEN1 MAPT APP
13 synapse organization GO:0050808 9.74 PSEN1 MAPT APP
14 regulation of synapse organization GO:0050807 9.72 VCP APOE
15 regulation of protein binding GO:0043393 9.72 PSEN1 APP
16 cholesterol efflux GO:0033344 9.72 APOE ABCA7
17 cellular response to amyloid-beta GO:1904646 9.72 TREM2 PSEN1 APP
18 positive regulation of dendritic spine development GO:0060999 9.71 PSEN1 APOE
19 positive regulation of glycolytic process GO:0045821 9.71 PSEN1 APP
20 membrane protein ectodomain proteolysis GO:0006509 9.71 PSEN2 PSEN1
21 response to lead ion GO:0010288 9.71 MAPT APP
22 membrane protein intracellular domain proteolysis GO:0031293 9.7 PSEN2 PSEN1
23 positive regulation of cholesterol efflux GO:0010875 9.7 APOE ABCA7
24 protein maturation GO:0051604 9.7 SORL1 PSEN1
25 regulation of peptidyl-tyrosine phosphorylation GO:0050730 9.69 TREM2 APP
26 regulation of innate immune response GO:0045088 9.69 TREM2 APOE
27 negative regulation of ubiquitin-dependent protein catabolic process GO:2000059 9.68 PSEN1 HFE
28 positive regulation of ATP biosynthetic process GO:2001171 9.68 VCP TREM2
29 amyloid-beta metabolic process GO:0050435 9.67 PSEN2 PSEN1
30 amyloid precursor protein catabolic process GO:0042987 9.67 PSEN2 PSEN1
31 negative regulation of long-term synaptic potentiation GO:1900272 9.67 APP APOE
32 high-density lipoprotein particle assembly GO:0034380 9.66 APOE ABCA7
33 amyloid fibril formation GO:1990000 9.65 MAPT APP
34 phospholipid efflux GO:0033700 9.65 APOE ABCA7
35 amyloid precursor protein metabolic process GO:0042982 9.65 PSEN1 APOE
36 negative regulation of amyloid-beta formation GO:1902430 9.65 SORL1 APOE ABCA7
37 neuron projection maintenance GO:1990535 9.64 PSEN1 APP
38 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.64 PSEN1 APP
39 modulation of age-related behavioral decline GO:0090647 9.63 PSEN1 APP
40 regulation of resting membrane potential GO:0060075 9.63 TREM2 PSEN1
41 microglial cell activation GO:0001774 9.63 TREM2 MAPT APP
42 Notch receptor processing GO:0007220 9.62 PSEN2 PSEN1
43 microglial cell proliferation GO:0061518 9.61 TREM2 CSF1R
44 positive regulation by host of viral process GO:0044794 9.61 CSF1R APOE
45 Notch receptor processing, ligand-dependent GO:0035333 9.59 PSEN2 PSEN1
46 positive regulation of phospholipid efflux GO:1902995 9.54 APOE ABCA7
47 regulation of amyloid precursor protein catabolic process GO:1902991 9.52 APOE ABCA7
48 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.51 PSEN1 APP
49 amyloid-beta formation GO:0034205 9.5 PSEN2 PSEN1 ABCA7
50 microglial cell activation involved in immune response GO:0002282 9.49 TREM2 GRN

Molecular functions related to Early-Onset, Autosomal Dominant Alzheimer Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.71 VCP HFE APP APOE
2 aspartic-type endopeptidase activity GO:0004190 9.43 PSEN2 PSEN1
3 amyloid-beta binding GO:0001540 9.43 TREM2 SORL1 APOE
4 apolipoprotein binding GO:0034185 9.37 TREM2 MAPT
5 low-density lipoprotein particle binding GO:0030169 9.32 TREM2 SORL1
6 growth factor receptor binding GO:0070851 9.16 PSEN1 APP
7 aspartic endopeptidase activity, intramembrane cleaving GO:0042500 8.96 PSEN2 PSEN1
8 lipoprotein particle binding GO:0071813 8.8 TREM2 MAPT APOE
Sources

Sources for Early-Onset, Autosomal Dominant Alzheimer Disease

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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