AD3
MCID: ALZ056
MIFTS: 53

Alzheimer Disease 3 (AD3)

Categories: Cardiovascular diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Alzheimer Disease 3

MalaCards integrated aliases for Alzheimer Disease 3:

Name: Alzheimer Disease 3 58 12 54 76
Alzheimer Disease, Type 3 58 30 13 6 41
Ad3 12 54 76
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia 30 6
Alzheimer's Disease 3 12 15
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques 6
Familial Alzheimer Disease 3 with Spastic Paraparesis and Unusual Plaques 76
Alzheimer Disease, Type 3, with Spastic Paraparesis and Unusual Plaques 58
Familial Alzheimer Disease 3 with Spastic Paraparesis and Apraxia 76
Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia 58
Early-Onset Familial Alzheimer Disease 3 76
Alzheimer Disease Early Onset Type 3 54
Alzheimer Disease, Familial, Type 3 74
Alzheimer Disease 3, Early-Onset 58
Alzheimer Disease 3, Early Onset 12
Alzheimer Disease, Familial, 3 58
Alzheimer Disease Familial 3 12
Familial Alzheimer Disease 3 76
Alzheimer Disease Type 3 54
Ad 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
rapidly progressive
later onset has been reported
severe phenotype
onset in late twenties to thirties
a subset of patients have a 'visual variant'


HPO:

33
alzheimer disease 3:
Onset and clinical course adult onset rapidly progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Alzheimer Disease 3

UniProtKB/Swiss-Prot : 76 Alzheimer disease 3: A familial early-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid- beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death.

MalaCards based summary : Alzheimer Disease 3, also known as alzheimer disease, type 3, is related to alzheimer disease and hyper-ige recurrent infection syndrome 1, autosomal dominant, and has symptoms including seizures, myoclonus and abnormality of extrapyramidal motor function. An important gene associated with Alzheimer Disease 3 is PSEN1 (Presenilin 1). The drugs Dipivefrin and Dexamethasone have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and breast, and related phenotypes are agnosia and seizures

Disease Ontology : 12 An Alzheimer's disease that has material basis in mutation in the presenilin-1 gene (PSEN1) on chromosome 14q24.

Description from OMIM: 607822

Related Diseases for Alzheimer Disease 3

Diseases in the Alzheimer Disease family:

Alzheimer Disease 2 Alzheimer Disease 16
Alzheimer Disease 5 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 15 Alzheimer Disease 17
Alzheimer Disease 18 Alzheimer Disease 19
Alzheimer's Disease 1 Early-Onset, Autosomal Dominant Alzheimer Disease

Diseases related to Alzheimer Disease 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 937)
# Related Disease Score Top Affiliating Genes
1 alzheimer disease 12.2
2 hyper-ige recurrent infection syndrome 1, autosomal dominant 11.9
3 immunodeficiency 27b 11.8
4 myopathy, centronuclear, 1 11.7
5 renal tubular acidosis, distal, autosomal dominant 11.7
6 hypocalcemia, autosomal dominant 1 11.6
7 alzheimer disease 2 11.5
8 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 11.3
9 dermatitis, atopic 11.3
10 frontotemporal dementia 11.2
11 early-onset, autosomal dominant alzheimer disease 11.2
12 parkinson disease, late-onset 11.2
13 keratomalacia 11.2
14 posterior cortical atrophy 11.2
15 eosinophilic granulomatosis with polyangiitis 11.2
16 hyper ige syndrome 11.2
17 epidermolysis bullosa dystrophica, autosomal dominant 11.1
18 familial mediterranean fever, autosomal dominant 11.1
19 palmoplantar keratoderma i, striate, focal, or diffuse 11.1
20 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 11.1
21 slowed nerve conduction velocity, autosomal dominant 11.1
22 emery-dreifuss muscular dystrophy 7, autosomal dominant 11.1
23 renal tubular acidosis, distal 11.1
24 immunodeficiency 27a 11.0
25 hyper-ige recurrent infection syndrome 2, autosomal recessive 11.0
26 alzheimer disease 6 11.0
27 immunodeficiency 31a 11.0
28 spinal muscular atrophy 11.0
29 brachyolmia 11.0
30 polycystic liver disease 11.0
31 adjustment disorder 11.0
32 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 11.0
33 alzheimer disease mitochondrial 11.0
34 anauxetic dysplasia 1 11.0
35 mitochondrial dna depletion syndrome 12a , autosomal dominant 11.0
36 acute disseminated encephalomyelitis 11.0
37 autosomal dominant proximal renal tubular acidosis 11.0
38 anemia, congenital dyserythropoietic, type iii 10.9
39 dementia, lewy body 10.9
40 heinz body anemias 10.9
41 parkinson disease 1, autosomal dominant 10.9
42 pick disease of brain 10.9
43 spinocerebellar ataxia 2 10.9
44 vasculopathy, retinal, with cerebral leukodystrophy 10.9
45 epidermolysis bullosa junctionalis with pyloric atresia 10.9
46 fanconi anemia, complementation group a 10.9
47 fructose intolerance, hereditary 10.9
48 hypoascorbemia 10.9
49 spinal muscular atrophy, type i 10.9
50 spinal muscular atrophy, type ii 10.9

Graphical network of the top 20 diseases related to Alzheimer Disease 3:



Diseases related to Alzheimer Disease 3

Symptoms & Phenotypes for Alzheimer Disease 3

Human phenotypes related to Alzheimer Disease 3:

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 agnosia 33 occasional (7.5%) HP:0010524
2 seizures 33 HP:0001250
3 dysarthria 33 HP:0001260
4 gait disturbance 33 HP:0001288
5 dysphagia 33 HP:0002015
6 myoclonus 33 HP:0001336
7 babinski sign 33 HP:0003487
8 dystonia 33 HP:0001332
9 cerebral cortical atrophy 33 HP:0002120
10 memory impairment 33 HP:0002354
11 apraxia 33 HP:0002186
12 dementia 33 HP:0000726
13 abnormality of extrapyramidal motor function 33 HP:0002071
14 lower limb hyperreflexia 33 HP:0002395
15 spastic tetraparesis 33 HP:0001285
16 neurofibrillary tangles 33 HP:0002185
17 personality changes 33 HP:0000751
18 alzheimer disease 33 HP:0002511
19 optic ataxia 33 HP:0031868

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
dysarthria
dysphagia
myoclonus
dystonia
more
Neurologic Behavioral Psychiatric Manifestations:
personality changes
behavioral changes
social withdrawal
loss of attention
loss of executive functions

Abdomen Gastrointestinal:
dysphagia

Clinical features from OMIM:

607822

UMLS symptoms related to Alzheimer Disease 3:


seizures, myoclonus, abnormality of extrapyramidal motor function, personality changes, memory loss

Drugs & Therapeutics for Alzheimer Disease 3

Drugs for Alzheimer Disease 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 88)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dipivefrin Approved Phase 4,Not Applicable 52365-63-6 3105
2
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
3
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
4
Ondansetron Approved Phase 4 99614-02-5 4595
5
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
6
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 54670067 5785
7
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
8 Xenon Experimental Phase 4 7440-63-3
9 Serotonin Agents Phase 4
10 Anesthetics, General Phase 4
11 Anti-Anxiety Agents Phase 4
12 Antineoplastic Agents, Hormonal Phase 4
13 Hormones Phase 4
14 Serotonin Antagonists Phase 4
15 Hormone Antagonists Phase 4
16 Dermatologic Agents Phase 4,Phase 3
17 Platelet Aggregation Inhibitors Phase 4
18 Neurotransmitter Agents Phase 4
19 Gastrointestinal Agents Phase 4
20 Antiemetics Phase 4
21 Anesthetics Phase 4,Phase 3
22
protease inhibitors Phase 4
23 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
24 glucocorticoids Phase 4
25 Psychotropic Drugs Phase 4
26 HIV Protease Inhibitors Phase 4
27 Anti-Inflammatory Agents Phase 4
28 Anesthetics, Inhalation Phase 4
29 Antipruritics Phase 4
30 Antipsychotic Agents Phase 4
31 BB 1101 Phase 4
32 Peripheral Nervous System Agents Phase 4,Phase 3
33 Tranquilizing Agents Phase 4
34 Central Nervous System Depressants Phase 4,Phase 3
35 Autonomic Agents Phase 4
36 Protective Agents Phase 4
37 Trace Elements Phase 4
38 Micronutrients Phase 4
39 Antioxidants Phase 4
40 Vitamins Phase 4
41 Nutrients Phase 4
42 Immunologic Factors Phase 4,Phase 3,Phase 1
43 Pharmaceutical Solutions Phase 4
44 Analgesics, Non-Narcotic Phase 4
45 Analgesics Phase 4
46 Vitamin B Complex Phase 4
47 Linoleate Phase 4
48 Antirheumatic Agents Phase 4,Phase 3
49 Thioctic Acid Phase 4
50 Evening Primrose Phase 4

Interventional clinical trials:

(show all 48)
# Name Status NCT ID Phase Drugs
1 Visual Function With Contralateral AcrySof® ReSTOR® Aspheric SN6AD1 and SN6AD3 Terminated NCT00710905 Phase 4
2 Visual Function With Bilateral AcrySof® ReSTOR® Aspheric SN6AD1 Completed NCT00710931 Phase 4
3 Visual Performance After RESTOR Implantation Completed NCT01065064 Phase 4
4 Visual Acuity After the Combined Binocular Implantation of +2.5 Diopters and +3.0 Diopters ReSTOR Multifocal Intraocular Lenses. Completed NCT02314572 Phase 4
5 Depth of Hypnosis and Postoperative Nausea and Vomiting During Xenon Anaesthesia Completed NCT00793663 Phase 4 Xenon;Sevoflurane;Dexamethasone;NaCl;Ondansetron;NaCl
6 ACRYSOF® ReSTOR® Aspheric +3.0 D Add Power Intraocular Lens (IOL) Completed NCT00684138 Phase 4
7 Visual Outcomes of Subjects Bilaterally Implanted With ReSTOR Aspheric +4 vs. Tecnis or Acri.LISA Completed NCT00721253 Phase 4
8 Cognitive and Cerebral Blood Flow Effects of Vitamin C Completed NCT01055418 Phase 4
9 Effect of Sublingual Immunotherapy in Patients With Atopic Dermatitis Active, not recruiting NCT03388866 Phase 4 Mite extract sublingual immunotherapy (SLIT)
10 Presbyopia-Correcting Intraocular Lenses (IOLs) Completed NCT00963560 Phase 4
11 Efficacy of γ-linolenic Acid and Thioctic Acid in Patients With Diabetic Neuropathy Completed NCT03914404 Phase 4 γ-linoleic acid and placebo(Thioctic Acid);Thioctic Acid and placebo(γ-linoleic acid)
12 TRuE AD1 - An Efficacy and Safety Study of Ruxolitinib Cream in Adolescents and Adults With Atopic Dermatitis Recruiting NCT03745638 Phase 3 Ruxolitinib cream;Vehicle cream
13 A Long-term Study of Baricitinib (LY3009104) With Topical Corticosteroids in Adults With Moderate to Severe Atopic Dermatitis That Are Not Controlled With Cyclosporine or for Those Who Cannot Take Oral Cyclosporine Because it is Not Medically Advisable Recruiting NCT03428100 Phase 3 Baricitinib;Placebo;Topical corticosteroid
14 A Study of Long-term Baricitinib (LY3009104) Therapy in Atopic Dermatitis Recruiting NCT03334435 Phase 3 Baricitinib;Placebo
15 A Study of Baricitinib (LY3009104) in Adults With Moderate to Severe Atopic Dermatitis Active, not recruiting NCT03334396 Phase 3 Baricitinib;Placebo
16 Lidocaine Infusion for Major Abdominal Pediatric Surgery Completed NCT01387568 Phase 3 Lidocaine Infusion;saline Infusion
17 Oral Cladribine in Early Multiple Sclerosis (MS) Completed NCT00725985 Phase 3 Cladribine;Cladribine;Placebo;Rebif® new formulation (RNF)
18 Efficacy and Safety Study of DCB-AD1 in Patients With Mild to Moderate Alzheimer’s Disease Unknown status NCT00154635 Phase 2 DCB-AD1
19 Study of APH-1105 in Patients With Mild to Moderate Alzheimer's Disease Not yet recruiting NCT03806478 Phase 2 APH-1105
20 Efficacy and Safety of Orally Administered DS107 in Adult Patients With Moderate to Severe Atopic Dermatitis Not yet recruiting NCT03817190 Phase 2 DS107;Placebo
21 Physiotherapy on the Airway of Bruxist Children Completed NCT01178229 Phase 1, Phase 2
22 Intranasal AD4-H5-VTN as an Adenovirus Vaccine Completed NCT01806909 Phase 1
23 Clinical Trial of HIV Vaccine Combinations in Healthy Men and Women Recruiting NCT03408262 Phase 1
24 Safety and Immunogenicity of Ad4-HIV Envelope Vaccine Vectors in Healthy Volunteers Recruiting NCT03878121 Phase 1
25 Experimental AD4-H5-VTN Vaccine in Healthy Volunteers Completed NCT01443936 Phase 1
26 Safety and Immunogenicity of Replication-Competent Adenovirus 4-vectored Vaccine for Avian Influenza H5N1 Completed NCT01006798 Phase 1
27 A Phase 1 Ascending Dose Study to Assess the Safety and Immunogenicity of Adenovirus Anthrax Vector Candidate Vaccines Completed NCT01979406 Phase 1
28 Study of Safety and Immunogenicity of HIV Vaccines in Healthy Volunteers Completed NCT01989533 Phase 1
29 A Study to Assess the Safety, Pharmacodynamics, and Immunogenicity of PXVX0047 Terminated NCT03160339 Phase 1
30 Alsertib (MLN8237) and Brentuximab Vedotin for Relapsed/Refractory CD30-Positive Lymphomas and Solid Malignancies Withdrawn NCT02780011 Phase 1 Brentuximab Vedotin;Alsertib
31 Study to Evaluate the Safety and Immunogenicity of Orally-administered HIV Vaccine in Healthy, HIV-uninfected Adult Participants Active, not recruiting NCT02771730 Phase 1
32 Mechanism of Action Trial of ColoAd1 Completed NCT02053220 Phase 1
33 cAd3-Marburg Vaccine in Healthy Adults Recruiting NCT03475056 Phase 1
34 Safety Study of VM206RY in Subjects With Expression of HER2 in Breast Cancer Completed NCT01895491 Phase 1
35 Single-Ascending-Dose Study of BIIB076 in Healthy Volunteers and Participants With Alzheimer's Disease Recruiting NCT03056729 Phase 1 BIIB076;Placebo
36 Visual and Economic Profits of ReSTOR® Multifocal Intraocular Lenses (IOL) on Public Health Patients in Spain Unknown status NCT01088282 Not Applicable
37 Visual Performance of Pseudophakic Patient With Different Intraocular Lenses Unknown status NCT01763411
38 ReSTOR Natural +3.0D Study In Japan Completed NCT00758576 Not Applicable
39 Comparison of Outcomes With Multifocal Intraocular Lenses Recruiting NCT02678962 Not Applicable
40 A Clinical Outcome Study of Two Multifocal Intraocular Lenses (IOL) in Cataract Patients Completed NCT01684007 Not Applicable
41 Visual Performance of New Apodized Diffractive Multifocal IOL With Addition of Plus Three Completed NCT01027533
42 Visual Outcomes After Cataract Surgery: Multifocal AcrySof® IQ ReSTOR® Intraocular Lenses Versus Monofocal Intraocular Lenses Completed NCT01290068 Not Applicable
43 A Comparison of Visual Function After Bilateral Implantation of Presbyopia Correcting Intraocular Lenses Completed NCT01299155 Not Applicable
44 A Comparison of Visual Function After Bilateral Implantation of Presbyopia-Correcting Intraocular Lenses (IOLs) Completed NCT01257217 Not Applicable
45 Effects of Visual Arts Training on Dementia Completed NCT02432222 Not Applicable
46 Clinical Study to Evaluate the Visual Performance of Three Multifocal IOLs Completed NCT02990689 Not Applicable
47 Changes of Angle Kappa After Implantation of Multifocal Intraocular Lenses Completed NCT03297086 Not Applicable
48 Safety and Efficacy of DAV132 in Patients at High-Risk for Clostridium Difficile Infection (CDI) Recruiting NCT03710694 Not Applicable

Search NIH Clinical Center for Alzheimer Disease 3

Genetic Tests for Alzheimer Disease 3

Genetic tests related to Alzheimer Disease 3:

# Genetic test Affiliating Genes
1 Alzheimer Disease, Type 3 30 PSEN1
2 Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia 30

Anatomical Context for Alzheimer Disease 3

MalaCards organs/tissues related to Alzheimer Disease 3:

42
Heart, Liver, Breast, Prostate, Brain, Kidney, Thyroid

Publications for Alzheimer Disease 3

Articles related to Alzheimer Disease 3:

(show top 50) (show all 52)
# Title Authors Year
1
Alzheimer's disease: 3-Dimensional MRI texture for prediction of conversion from mild cognitive impairment. ( 30480081 )
2018
2
Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation. ( 25471389 )
2015
3
Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia: recommendations for family physicians. ( 24829003 )
2014
4
Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation. ( 20164095 )
2010
5
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. ( 20298421 )
2010
6
EFNS guidelines for the diagnosis and management of Alzheimer's disease. ( 20831773 )
2010
7
Preventing Alzheimer's disease and cognitive decline. ( 21500874 )
2010
8
Extreme cerebrospinal fluid amyloid beta levels identify family with late-onset Alzheimer's disease presenilin 1 mutation. ( 17366635 )
2007
9
Association of a presenilin 1 S170F mutation with a novel Alzheimer disease molecular phenotype. ( 17502474 )
2007
10
The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: an additional fifteen families. ( 16897084 )
2006
11
Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families. ( 16628450 )
2006
12
Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life. ( 16344340 )
2005
13
Pick bodies in a family with presenilin-1 Alzheimer's disease. ( 15622541 )
2005
14
A mutant PSEN1 causes dementia with Lewy bodies and variant Alzheimer's disease. ( 15732120 )
2005
15
Novel insertional presenilin 1 mutation causing Alzheimer disease with spastic paraparesis. ( 15159497 )
2004
16
A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis. ( 15534188 )
2004
17
A presenilin 1 R278I mutation presenting with language impairment. ( 15534260 )
2004
18
Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease. ( 15115757 )
2004
19
PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier. ( 14557582 )
2003
20
The role of presenilin cofactors in the gamma-secretase complex. ( 12660785 )
2003
21
Presenilin 1 mutation in an african american family presenting with atypical Alzheimer dementia. ( 12810495 )
2003
22
Apolipoprotein Eepsilon4 modifies Alzheimer's disease onset in an E280A PS1 kindred. ( 12891668 )
2003
23
Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities. ( 12370477 )
2002
24
A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease. ( 12484344 )
2002
25
Molecular evidence of presenilin 1 mutation in familial early onset dementia. ( 11920851 )
2002
26
Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Abeta 42 production. ( 12048239 )
2002
27
Presenilin-1-associated abnormalities in regional cerebral perfusion. ( 11402113 )
2001
28
Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. ( 11524469 )
2001
29
A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families. ( 11710891 )
2001
30
Variant Alzheimer's disease with spastic paraparesis: clinical characterization. ( 10720282 )
2000
31
Novel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and late-onset Alzheimer disease. ( 11030797 )
2000
32
The presenilin 1 C92S mutation increases abeta 42 production. ( 11027672 )
2000
33
Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion. ( 10401002 )
1999
34
A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1. ( 9546792 )
1998
35
Presenilin 1 Met146Leu variant due to an A --> T transversion in an early-onset familial Alzheimer's disease pedigree from Argentina. ( 9712537 )
1998
36
Early-onset Alzheimer's disease due to mutations of the presenilin-1 gene on chromosome 14: a 7-year follow-up of a patient with a mutation at codon 139. ( 9728730 )
1998
37
Two novel presenilin-1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimer's disease. ( 9831473 )
1998
38
Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucine-->serine (L250S) substitution at codon 250 of the presenilin 1 gene. ( 9436726 )
1998
39
A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease. ( 9443865 )
1998
40
Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene. ( 9521423 )
1998
41
A 50-year perspective of a family with chromosome-14-linked Alzheimer's disease. ( 9544835 )
1998
42
Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation. ( 9052708 )
1997
43
Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype. ( 9172170 )
1997
44
Clinicopathological features of familial Alzheimer's disease associated with the M139V mutation in the presenilin 1 gene. Pedigree but not mutation specific age at onset provides evidence for a further genetic factor. ( 9126060 )
1997
45
The E280A presenilin 1 Alzheimer mutation produces increased A beta 42 deposition and severe cerebellar pathology. ( 8837617 )
1996
46
A novel mutation of presenilin 1 in familial Alzheimer's disease in Israel detected by denaturing gradient gel electrophoresis. ( 8931704 )
1996
47
Familial Alzheimer's disease co-segregates with a Met146I1e substitution in presenilin-1. ( 9007311 )
1996
48
Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo. ( 8755489 )
1996
49
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. ( 7596406 )
1995
50
Missense mutation of S182 gene in Italian families with early-onset Alzheimer's disease. ( 7623584 )
1995

Variations for Alzheimer Disease 3

UniProtKB/Swiss-Prot genetic disease variations for Alzheimer Disease 3:

76 (show top 50) (show all 95)
# Symbol AA change Variation ID SNP ID
1 PSEN1 p.Ala79Val VAR_006413 rs63749824
2 PSEN1 p.Val82Leu VAR_006414 rs63749967
3 PSEN1 p.Val96Phe VAR_006415 rs63750601
4 PSEN1 p.Tyr115Cys VAR_006416 rs63750450
5 PSEN1 p.Tyr115His VAR_006417
6 PSEN1 p.Glu120Asp VAR_006418 rs63751272
7 PSEN1 p.Glu120Lys VAR_006419 rs63750800
8 PSEN1 p.Met139Ile VAR_006420 rs63750522
9 PSEN1 p.Met139Thr VAR_006421 rs63751106
10 PSEN1 p.Met139Val VAR_006422 rs63751037
11 PSEN1 p.Ile143Phe VAR_006423 rs63750322
12 PSEN1 p.Ile143Thr VAR_006424 rs63750004
13 PSEN1 p.Met146Ile VAR_006425 rs63750391
14 PSEN1 p.Met146Leu VAR_006426 rs63750306
15 PSEN1 p.Met146Val VAR_006427 rs63750306
16 PSEN1 p.His163Arg VAR_006428 rs63750590
17 PSEN1 p.His163Tyr VAR_006429 rs63749885
18 PSEN1 p.Ser169Leu VAR_006430 rs63751210
19 PSEN1 p.Ser169Pro VAR_006431 rs63750418
20 PSEN1 p.Leu171Pro VAR_006432 rs63750963
21 PSEN1 p.Gly209Val VAR_006433 rs63750053
22 PSEN1 p.Ile213Thr VAR_006434 rs63751309
23 PSEN1 p.Ala231Thr VAR_006435 rs63749836
24 PSEN1 p.Ala231Val VAR_006436 rs63750799
25 PSEN1 p.Met233Thr VAR_006437 rs63751024
26 PSEN1 p.Leu235Pro VAR_006438 rs63749835
27 PSEN1 p.Ala246Glu VAR_006439 rs63750526
28 PSEN1 p.Leu250Ser VAR_006440 rs63751163
29 PSEN1 p.Ala260Val VAR_006441 rs63751420
30 PSEN1 p.Leu262Phe VAR_006442 rs63750248
31 PSEN1 p.Cys263Arg VAR_006443 rs63750543
32 PSEN1 p.Pro264Leu VAR_006444 rs63750301
33 PSEN1 p.Pro267Ser VAR_006445 rs63751229
34 PSEN1 p.Pro267Thr VAR_006446
35 PSEN1 p.Arg269Gly VAR_006447 rs63751019
36 PSEN1 p.Arg269His VAR_006448 rs63750900
37 PSEN1 p.Arg278Thr VAR_006449 rs63749891
38 PSEN1 p.Glu280Ala VAR_006450 rs63750231
39 PSEN1 p.Glu280Gly VAR_006451 rs63750231
40 PSEN1 p.Ala285Val VAR_006452 rs63751139
41 PSEN1 p.Leu286Val VAR_006453 rs63751235
42 PSEN1 p.Gly378Glu VAR_006455
43 PSEN1 p.Gly384Ala VAR_006456 rs63750646
44 PSEN1 p.Leu392Val VAR_006457 rs63751416
45 PSEN1 p.Cys410Tyr VAR_006458 rs661
46 PSEN1 p.Pro436Gln VAR_006460 rs121917808
47 PSEN1 p.Pro436Ser VAR_008141 rs63749925
48 PSEN1 p.Phe105Leu VAR_009208 rs63750321
49 PSEN1 p.Pro117Leu VAR_009209 rs63749805
50 PSEN1 p.Gly209Arg VAR_009210 rs63749880

ClinVar genetic disease variations for Alzheimer Disease 3:

6 (show top 50) (show all 96)
# Gene Variation Type Significance SNP ID Assembly Location
1 PSEN1 NM_000021.3(PSEN1): c.436A> C (p.Met146Leu) single nucleotide variant Pathogenic rs63750306 GRCh37 Chromosome 14, 73640371: 73640371
2 PSEN1 NM_000021.3(PSEN1): c.436A> C (p.Met146Leu) single nucleotide variant Pathogenic rs63750306 GRCh38 Chromosome 14, 73173663: 73173663
3 PSEN1 NM_000021.3(PSEN1): c.488A> G (p.His163Arg) single nucleotide variant Pathogenic rs63750590 GRCh37 Chromosome 14, 73653568: 73653568
4 PSEN1 NM_000021.3(PSEN1): c.488A> G (p.His163Arg) single nucleotide variant Pathogenic rs63750590 GRCh38 Chromosome 14, 73186860: 73186860
5 PSEN1 NM_000021.3(PSEN1): c.737C> A (p.Ala246Glu) single nucleotide variant Pathogenic rs63750526 GRCh37 Chromosome 14, 73659540: 73659540
6 PSEN1 NM_000021.3(PSEN1): c.737C> A (p.Ala246Glu) single nucleotide variant Pathogenic rs63750526 GRCh38 Chromosome 14, 73192832: 73192832
7 PSEN1 NM_000021.3(PSEN1): c.856C> G (p.Leu286Val) single nucleotide variant Pathogenic rs63751235 GRCh37 Chromosome 14, 73664825: 73664825
8 PSEN1 NM_000021.3(PSEN1): c.856C> G (p.Leu286Val) single nucleotide variant Pathogenic rs63751235 GRCh38 Chromosome 14, 73198117: 73198117
9 PSEN1 NM_000021.3(PSEN1): c.1229G> A (p.Cys410Tyr) single nucleotide variant Pathogenic rs661 GRCh37 Chromosome 14, 73683933: 73683933
10 PSEN1 NM_000021.3(PSEN1): c.1229G> A (p.Cys410Tyr) single nucleotide variant Pathogenic rs661 GRCh38 Chromosome 14, 73217225: 73217225
11 PSEN1 NM_000021.3(PSEN1): c.415A> G (p.Met139Val) single nucleotide variant Pathogenic rs63751037 GRCh37 Chromosome 14, 73640350: 73640350
12 PSEN1 NM_000021.3(PSEN1): c.415A> G (p.Met139Val) single nucleotide variant Pathogenic rs63751037 GRCh38 Chromosome 14, 73173642: 73173642
13 PSEN1 NM_000021.3(PSEN1): c.436A> G (p.Met146Val) single nucleotide variant Pathogenic rs63750306 GRCh37 Chromosome 14, 73640371: 73640371
14 PSEN1 NM_000021.3(PSEN1): c.436A> G (p.Met146Val) single nucleotide variant Pathogenic rs63750306 GRCh38 Chromosome 14, 73173663: 73173663
15 PSEN1 NM_000021.3(PSEN1): c.487C> T (p.His163Tyr) single nucleotide variant Pathogenic rs63749885 GRCh37 Chromosome 14, 73653567: 73653567
16 PSEN1 NM_000021.3(PSEN1): c.487C> T (p.His163Tyr) single nucleotide variant Pathogenic rs63749885 GRCh38 Chromosome 14, 73186859: 73186859
17 PSEN1 NM_000021.3(PSEN1): c.839A> C (p.Glu280Ala) single nucleotide variant Pathogenic rs63750231 GRCh37 Chromosome 14, 73664808: 73664808
18 PSEN1 NM_000021.3(PSEN1): c.839A> C (p.Glu280Ala) single nucleotide variant Pathogenic rs63750231 GRCh38 Chromosome 14, 73198100: 73198100
19 PSEN1 NM_000021.3(PSEN1): c.839A> G (p.Glu280Gly) single nucleotide variant Pathogenic rs63750231 GRCh37 Chromosome 14, 73664808: 73664808
20 PSEN1 NM_000021.3(PSEN1): c.839A> G (p.Glu280Gly) single nucleotide variant Pathogenic rs63750231 GRCh38 Chromosome 14, 73198100: 73198100
21 PSEN1 NM_000021.3(PSEN1): c.799C> T (p.Pro267Ser) single nucleotide variant Likely pathogenic rs63751229 GRCh37 Chromosome 14, 73664768: 73664768
22 PSEN1 NM_000021.3(PSEN1): c.799C> T (p.Pro267Ser) single nucleotide variant Likely pathogenic rs63751229 GRCh38 Chromosome 14, 73198060: 73198060
23 PSEN1 PSEN1, IVS8AS, G-T, -1 deletion Pathogenic
24 PSEN1 NM_000021.3(PSEN1): c.360A> T (p.Glu120Asp) single nucleotide variant Pathogenic rs63751272 GRCh37 Chromosome 14, 73640295: 73640295
25 PSEN1 NM_000021.3(PSEN1): c.360A> T (p.Glu120Asp) single nucleotide variant Pathogenic rs63751272 GRCh38 Chromosome 14, 73173587: 73173587
26 PSEN1 NM_000021.3(PSEN1): c.1276G> C (p.Ala426Pro) single nucleotide variant Likely pathogenic rs63751223 GRCh37 Chromosome 14, 73685869: 73685869
27 PSEN1 NM_000021.3(PSEN1): c.1276G> C (p.Ala426Pro) single nucleotide variant Likely pathogenic rs63751223 GRCh38 Chromosome 14, 73219161: 73219161
28 PSEN1 NM_000021.3(PSEN1): c.438G> A (p.Met146Ile) single nucleotide variant Pathogenic rs63750391 GRCh37 Chromosome 14, 73640373: 73640373
29 PSEN1 NM_000021.3(PSEN1): c.438G> A (p.Met146Ile) single nucleotide variant Pathogenic rs63750391 GRCh38 Chromosome 14, 73173665: 73173665
30 PSEN1 NM_000021.3(PSEN1): c.749T> C (p.Leu250Ser) single nucleotide variant Pathogenic rs63751163 GRCh37 Chromosome 14, 73659552: 73659552
31 PSEN1 NM_000021.3(PSEN1): c.749T> C (p.Leu250Ser) single nucleotide variant Pathogenic rs63751163 GRCh38 Chromosome 14, 73192844: 73192844
32 PSEN1 PSEN1, IVS4DS, 1-BP DEL, G deletion Pathogenic
33 PSEN1 NM_000021.3(PSEN1): c.1300_1301delGCinsTG (p.Ala434Cys) indel Pathogenic rs281875357 GRCh37 Chromosome 14, 73685893: 73685894
34 PSEN1 NM_000021.3(PSEN1): c.1300_1301delGCinsTG (p.Ala434Cys) indel Pathogenic rs281875357 GRCh38 Chromosome 14, 73219185: 73219186
35 PSEN1 NM_000021.3(PSEN1): c.275G> C (p.Cys92Ser) single nucleotide variant Pathogenic rs63751141 GRCh37 Chromosome 14, 73637692: 73637692
36 PSEN1 NM_000021.3(PSEN1): c.275G> C (p.Cys92Ser) single nucleotide variant Pathogenic rs63751141 GRCh38 Chromosome 14, 73170984: 73170984
37 PSEN1 NM_000021.3(PSEN1): c.617G> C (p.Gly206Ala) single nucleotide variant Pathogenic rs63750082 GRCh37 Chromosome 14, 73659420: 73659420
38 PSEN1 NM_000021.3(PSEN1): c.617G> C (p.Gly206Ala) single nucleotide variant Pathogenic rs63750082 GRCh38 Chromosome 14, 73192712: 73192712
39 PSEN1 NM_000021.3(PSEN1): c.796G> A (p.Gly266Ser) single nucleotide variant Pathogenic rs121917807 GRCh37 Chromosome 14, 73664765: 73664765
40 PSEN1 NM_000021.3(PSEN1): c.796G> A (p.Gly266Ser) single nucleotide variant Pathogenic rs121917807 GRCh38 Chromosome 14, 73198057: 73198057
41 PSEN1 NM_000021.3(PSEN1): c.338T> C (p.Leu113Pro) single nucleotide variant Pathogenic rs63751399 GRCh37 Chromosome 14, 73637755: 73637755
42 PSEN1 NM_000021.3(PSEN1): c.338T> C (p.Leu113Pro) single nucleotide variant Pathogenic rs63751399 GRCh38 Chromosome 14, 73171047: 73171047
43 PSEN1 NM_000021.3(PSEN1): c.497T> C (p.Leu166Pro) single nucleotide variant Pathogenic rs63750265 GRCh37 Chromosome 14, 73653577: 73653577
44 PSEN1 NM_000021.3(PSEN1): c.497T> C (p.Leu166Pro) single nucleotide variant Pathogenic rs63750265 GRCh38 Chromosome 14, 73186869: 73186869
45 PSEN1 NM_000021.3(PSEN1): c.520C> A (p.Leu174Met) single nucleotide variant Pathogenic rs63751144 GRCh37 Chromosome 14, 73653600: 73653600
46 PSEN1 NM_000021.3(PSEN1): c.520C> A (p.Leu174Met) single nucleotide variant Pathogenic rs63751144 GRCh38 Chromosome 14, 73186892: 73186892
47 PSEN1 NM_000021.3(PSEN1): c.548G> T (p.Gly183Val) single nucleotide variant Pathogenic rs63751068 GRCh37 Chromosome 14, 73653628: 73653628
48 PSEN1 NM_000021.3(PSEN1): c.548G> T (p.Gly183Val) single nucleotide variant Pathogenic rs63751068 GRCh38 Chromosome 14, 73186920: 73186920
49 PSEN1 NM_000021.3(PSEN1): c.1307C> A (p.Pro436Gln) single nucleotide variant Pathogenic rs121917808 GRCh37 Chromosome 14, 73685900: 73685900
50 PSEN1 NM_000021.3(PSEN1): c.1307C> A (p.Pro436Gln) single nucleotide variant Pathogenic rs121917808 GRCh38 Chromosome 14, 73219192: 73219192

Expression for Alzheimer Disease 3

Search GEO for disease gene expression data for Alzheimer Disease 3.

Pathways for Alzheimer Disease 3

GO Terms for Alzheimer Disease 3

Cellular components related to Alzheimer Disease 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 8.62 PSEN1 RILPL1

Biological processes related to Alzheimer Disease 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 8.62 PSEN1 RILPL1

Sources for Alzheimer Disease 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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