AD3
MCID: ALZ036
MIFTS: 53

Alzheimer Disease, Type 3 (AD3) malady

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

Aliases & Classifications for Alzheimer Disease, Type 3

Aliases & Descriptions for Alzheimer Disease, Type 3:

Name: Alzheimer Disease, Type 3 54 13
Ad3 12 50 24 66
Alzheimer Disease Type 3 50 24 29
Alzheimer Disease 3 12 50 66
Familial Alzheimer Disease 3 with Spastic Paraparesis and Apraxia 66 29
Alzheimer's Disease 3 12 14
Familial Alzheimer Disease 3 with Spastic Paraparesis and Unusual Plaques 66
Alzheimer Disease, Type 3, with Spastic Paraparesis and Unusual Plaques 54
Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia 54
Early-Onset Familial Alzheimer Disease 3 66
Alzheimer Disease Early Onset Type 3 50
Alzheimer Disease, Familial, Type 3 69
Alzheimer Disease 3, Early Onset 12
Alzheimer Disease Familial 3 12
Familial Alzheimer Disease 3 66
Ad 3 24

Characteristics:

HPO:

32
alzheimer disease, type 3:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset rapidly progressive


Classifications:



External Ids:

OMIM 54 607822
Disease Ontology 12 DOID:0110042
MeSH 42 D000544

Summaries for Alzheimer Disease, Type 3

UniProtKB/Swiss-Prot : 66 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 constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death.

MalaCards based summary : Alzheimer Disease, Type 3, also known as ad3, is related to early-onset, autosomal dominant alzheimer disease and multiple enchondromatosis, maffucci type, and has symptoms including seizures, myoclonus and abnormality of extrapyramidal motor function. An important gene associated with Alzheimer Disease, Type 3 is PSEN1 (Presenilin 1), and among its related pathways/superpathways are Presenilin-Mediated Signaling and A-beta Signaling Pathways. The drugs Dipivefrin and Donepezil have been mentioned in the context of this disorder. Related phenotypes are Increased shRNA abundance (Z-score > 2) and hematopoietic system

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, Type 3

Diseases in the Alzheimer Disease family:

Alzheimer Disease-4 Alzheimer Disease 17
Alzheimer Disease 12 Alzheimer Disease, Type 3
Alzheimer Disease 18 Alzheimer Disease-2
Alzheimer Disease 19, Late Onset Alzheimer Disease 16
Alzheimer's Disease 7 Alzheimer's Disease 11
Alzheimer's Disease 13 Alzheimer's Disease 14
Alzheimer's Disease 15 Early-Onset Familial Alzheimer Disease
Alzheimer Disease Type 1 Early-Onset, Autosomal Dominant Alzheimer Disease
Alzheimer Disease Risk Factor

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

(show all 27)
id Related Disease Score Top Affiliating Genes
1 early-onset, autosomal dominant alzheimer disease 10.9
2 multiple enchondromatosis, maffucci type 10.8
3 enchondromatosis, multiple, ollier type 10.8
4 encephalitozoonosis 10.2 APP PSEN1
5 alzheimer's disease 15 10.2 CD46 DSG2
6 combined oxidative phosphorylation deficiency 8 10.2 ABCA7 PSEN2
7 intracranial structure hemangioma 10.2 APP PSEN1
8 ectodermal dysplasia mental retardation syndactyly 10.1 APP PSEN1 PSEN2
9 foxp2-related speech and language disorders 10.1 APP PSEN1 PSEN2
10 limited scleroderma 10.1 APP PSEN1
11 cardiomyopathy, dilated, 1u 10.1 APP PSEN1 PSEN2
12 primary cutaneous gamma/delta-positive t-cell lymphoma 10.1 DSG2 PSEN1 PSEN2
13 eumycotic mycetoma 10.1 APP PSEN1 PSEN2
14 coumarin resistance 10.1 ABCA7 APP
15 juvenile amyotrophic lateral sclerosis with dementia 10.1 APP CD46 DSG2
16 balanoposthitis 10.1 ABCA7 CD46 PSEN2
17 leptospirosis 10.1 DSG2 PSEN1
18 substance-induced psychosis 10.1 APP PSEN1 PSEN2
19 spastic paraplegia 54, autosomal recessive 10.0 ABCA7 TCF3
20 amelogenesis imperfecta, type iia3 10.0 ABCA7 APP TCF3
21 chronic subinvolution of uterus 9.9 CTTNBP2 PSEN2
22 meckel syndrome 10 9.9 APP PSEN1 PSEN2 TCF3
23 emery-dreifuss muscular dystrophy, dominant type 9.9 CYP11B2 DSG2 PSEN1 PSEN2
24 cardiomyopathy, dilated, 1v 9.8 ABCA7 APP CYP11B2 PSEN1 PSEN2
25 alzheimer's disease 14 9.8 ABCA7 APP CD46 CTTNBP2 DSG2
26 alzheimer disease 9.7
27 pick disease 8.6 ABCA7 APP CD46 CEBPA CTTNBP2 CYP11B2

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



Diseases related to Alzheimer Disease, Type 3

Symptoms & Phenotypes for Alzheimer Disease, Type 3

Symptoms by clinical synopsis from OMIM:

607822

Clinical features from OMIM:

607822

Human phenotypes related to Alzheimer Disease, Type 3:

32 (show all 18)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 myoclonus 32 HP:0001336
3 abnormality of extrapyramidal motor function 32 HP:0002071
4 dystonia 32 HP:0001332
5 personality changes 32 HP:0000751
6 dysarthria 32 HP:0001260
7 gait disturbance 32 HP:0001288
8 dysphagia 32 HP:0002015
9 babinski sign 32 HP:0003487
10 cerebral cortical atrophy 32 HP:0002120
11 memory impairment 32 HP:0002354
12 apraxia 32 HP:0002186
13 dementia 32 HP:0000726
14 spastic tetraparesis 32 HP:0001285
15 agnosia 32 HP:0010524
16 lower limb hyperreflexia 32 HP:0002395
17 neurofibrillary tangles 32 HP:0002185
18 alzheimer disease 32 HP:0002511

UMLS symptoms related to Alzheimer Disease, Type 3:


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

GenomeRNAi Phenotypes related to Alzheimer Disease, Type 3 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.58 ABCA7
2 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.58 ABCA7
3 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.58 PSEN2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.58 ABCA7
5 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.58 PSEN2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.58 CD46 PSEN2 ABCA7
7 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.58 CD46
8 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.58 CD46
9 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.58 CD46
10 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.58 ABCA7
11 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.58 CD46
12 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.58 ABCA7
13 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.58 PSEN2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.58 ABCA7
15 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.58 PSEN2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.58 CD46

MGI Mouse Phenotypes related to Alzheimer Disease, Type 3:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.8 ABCA7 APP CEBPA CYP11B2 PSEN1 PSEN2
2 immune system MP:0005387 9.7 ABCA7 APP CEBPA CYP11B2 PSEN1 PSEN2
3 renal/urinary system MP:0005367 9.43 ABCA7 CEBPA CYP11B2 PSEN1 PSEN2 TCF3
4 reproductive system MP:0005389 9.1 CEBPA CYP11B2 PSEN1 TCF3 APP CD46

Drugs & Therapeutics for Alzheimer Disease, Type 3

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

(show top 50) (show all 182)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dipivefrin Approved Phase 4 52365-63-6 3105
2
Donepezil Approved Phase 4,Phase 3,Phase 2 120014-06-4 3152
3
Memantine Approved, Investigational Phase 4,Phase 3 19982-08-2 4054
4
Rivastigmine Approved, Investigational Phase 4,Phase 3 123441-03-2 77991
5
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
6
Ondansetron Approved Phase 4 99614-02-5 4595
7
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
8
Dopamine Approved Phase 4,Phase 3 51-61-6, 62-31-7 681
9
Benzocaine Approved Phase 4,Phase 2,Phase 3 1994-09-7, 94-09-7 2337
10
Metformin Approved Phase 4 657-24-9 14219 4091
11
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
12 tannic acid Approved, Nutraceutical Phase 4,Phase 2,Phase 3
13 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
14 Cholinergic Agents Phase 4,Phase 3,Phase 2
15 Cholinesterase Inhibitors Phase 4,Phase 3,Phase 2
16 Nootropic Agents Phase 4,Phase 3,Phase 2
17 Anesthetics Phase 4,Phase 3
18 Anesthetics, General Phase 4
19 Anesthetics, Inhalation Phase 4
20 Anti-Anxiety Agents Phase 4
21 Antiemetics Phase 4
22 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 1
23 Antineoplastic Agents, Hormonal Phase 4
24 Antipruritics Phase 4
25 Antipsychotic Agents Phase 4,Phase 3
26 Autonomic Agents Phase 4,Phase 3
27 BB 1101 Phase 4
28 Central Nervous System Depressants Phase 4,Phase 3,Phase 2
29 Dermatologic Agents Phase 4
30 Dexamethasone 21-phosphate Phase 4
31 Dexamethasone acetate Phase 4 1177-87-3
32 Gastrointestinal Agents Phase 4
33 glucocorticoids Phase 4
34 HIV Protease Inhibitors Phase 4,Phase 2,Phase 3
35 Hormone Antagonists Phase 4
36 Hormones Phase 4
37 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
38 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1
39 Platelet Aggregation Inhibitors Phase 4,Phase 1
40
protease inhibitors Phase 4,Phase 2,Phase 3
41 Psychotropic Drugs Phase 4,Phase 3,Phase 2
42
Serotonin Phase 4,Phase 3 50-67-9 5202
43 Serotonin Agents Phase 4,Phase 3
44 Serotonin Antagonists Phase 4
45 Tranquilizing Agents Phase 4,Phase 3,Phase 2
46 Xenon Phase 4
47 Antioxidants Phase 4,Phase 1
48 Micronutrients Phase 4,Phase 2
49 Protective Agents Phase 4,Phase 3,Phase 1
50 Trace Elements Phase 4,Phase 2

Interventional clinical trials:

(show top 50) (show all 157)
id Name Status NCT ID Phase
1 Visual Function With Bilateral AcrySof® ReSTOR® Aspheric SN6AD1 Completed NCT00710931 Phase 4
2 Visual Performance After RESTOR Implantation Completed NCT01065064 Phase 4
3 Visual Acuity After the Combined Binocular Implantation of +2.5 Diopters and +3.0 Diopters ReSTOR Multifocal Intraocular Lenses. Completed NCT02314572 Phase 4
4 Depth of Hypnosis and Postoperative Nausea and Vomiting During Xenon Anaesthesia Completed NCT00793663 Phase 4
5 ACRYSOF® ReSTOR® Aspheric +3.0 D Add Power Intraocular Lens (IOL) Completed NCT00684138 Phase 4
6 Visual Outcomes of Subjects Bilaterally Implanted With ReSTOR Aspheric +4 vs. Tecnis or Acri.LISA Completed NCT00721253 Phase 4
7 Cognitive and Cerebral Blood Flow Effects of Vitamin C Completed NCT01055418 Phase 4
8 Clinical Study to Evaluate the Visual Performance of Three Multifocal IOLs Completed NCT02990689 Phase 4
9 Presbyopia-Correcting Intraocular Lenses (IOLs) Completed NCT00963560 Phase 4
10 A Study of EGb 761® (Tanakan®) in Dementia of Alzheimer Type Onset in Patients Suffering From Memory Complaints Completed NCT00276510 Phase 4
11 Corticolimbic Degeneration and Treatment of Dementia Completed NCT00768261 Phase 4
12 Convenience, Tolerability, and Safety of Change in the Administration of Rivastigmine From Capsules to a Transdermal Patch in Patients With Mild to Moderate Alzheimer's Disease Completed NCT00549601 Phase 4
13 Efficacy and Safety of Memantine Hydrochloride in Enhancing the Cognitive Abilities of Young Adults With Down Syndrome Completed NCT01112683 Phase 4
14 Comparison of Outcomes With Multifocal Intraocular Lenses Recruiting NCT02678962 Phase 4
15 Insulin Resistance and Mild Cognitive Impairment (IRMCI) Study Recruiting NCT02409238 Phase 4
16 Visual Function With Contralateral AcrySof® ReSTOR® Aspheric SN6AD1 and SN6AD3 Terminated NCT00710905 Phase 4
17 Cerebrolysin Compared to Donepezil in Patients With Mild to Moderate Dementia of Alzheimer's Type (DAT) Withdrawn NCT01822951 Phase 4
18 Donepezil Treatment of Psychotic Symptoms in Dementia Patients Unknown status NCT00190021 Phase 3
19 Evaluating the Effects of Music Interventions on Hospitalised People With Dementia Unknown status NCT00448318 Phase 2, Phase 3
20 Lidocaine Infusion for Major Abdominal Pediatric Surgery Completed NCT01387568 Phase 3
21 Efficacy Study of MPC-7869 to Treat Patients With Alzheimer's Completed NCT00105547 Phase 3
22 Rosiglitazone (Extended Release Tablets) As Adjunctive Therapy In Subjects With Mild To Moderate Alzheimer's Disease Completed NCT00348140 Phase 3
23 An Efficacy and Safety Study of INM-176 for the Treatment of Patients With Alzheimer Type Dementia Completed NCT01245530 Phase 3
24 Aripiprazole in the Treatment of Patients With Psychosis Associated With Dementia of Alzheimer's Type Completed NCT01438060 Phase 3
25 A Study of the Safety and Efficacy of Memantine in Moderate to Severe Alzheimer's Disease Completed NCT00322153 Phase 3
26 Study of Xaliproden (SR57746A) in Patients With Mild-to-Moderate Dementia of the Alzheimer's Type Completed NCT00104013 Phase 3
27 18-Month Study of the Efficacy of Xaliproden (SR57746A) in Patients With Mild-to-Moderate Dementia of the Alzheimer's Type Completed NCT00103649 Phase 3
28 Study of Aripiprazole in the Treatment of Patients With Psychosis Associated With Dementia of the Alzheimer's Type Completed NCT00041678 Phase 3
29 Study of Aripiprazole in the Treatment of Patients With Psychosis Associated With Dementia of the Alzheimer's Type Completed NCT00036114 Phase 3
30 An Efficacy and Safety Study of Galantamine for the Treatment of Patients With Alzheimer's Disease Completed NCT00814801 Phase 3
31 The Safety and Efficacy of Neramexane in Patients With Moderate to Severe Alzheimer's Disease Completed NCT00090116 Phase 3
32 Efficacy Assessment of Three Non Pharmacological Therapies in Alzheimer's Disease Completed NCT00646269 Phase 3
33 Discontinuation of Cholinesterase Inhibitors for the Treatment of Severe Alzheimer's Disease Completed NCT02035982 Phase 3
34 A 24-weeks, Multi-center, Randomized, Double-blind, Placebo Controlled Study to Evaluate the Efficacy and Safety of Donepezil Hydrochloride in Chinese Subjects With Severe Alzheimer's Disease Completed NCT01404169 Phase 3
35 Compare the Efficacy and Safety of Donepezil Hydrochloride 23 mg Treatment With Continuation of Donepezil Hydrochloride 10 mg Treatment in Japanese Subjects With Severe Alzheimer's Disease Completed NCT01539031 Phase 3
36 Efficacy and Safety of the Rivastigmine Transdermal Patch in Patients With Probable Alzheimer's Disease Completed NCT00099242 Phase 3
37 Safety and Efficacy of High Dose, Rapid Titration Galantamine in Patients With Alzheimer's Disease Completed NCT00338117 Phase 3
38 Rosiglitazone (Extended Release Tablets) As Monotherapy In Subjects With Mild To Moderate Alzheimer's Disease Completed NCT00428090 Phase 3
39 A Phase 3 Study Evaluating Safety and Effectiveness of Immune Globulin Intravenous (IGIV 10%) for the Treatment of Mild-to-Moderate Alzheimer´s Disease Completed NCT00818662 Phase 3
40 Memantine and Validation of a New Alzheimer's Disease Scale Completed NCT00804271 Phase 3
41 Project COPE:Managing Dementia at Home Completed NCT00259454 Phase 3
42 Oculomotor Testing in the Differential Diagnosis of Dementia Completed NCT01577394 Phase 3
43 Project ACT: Advancing Caregiving Techniques Completed NCT00259480 Phase 3
44 Efficacy and Safety of Aricept in the Treatment of Severe Alzheimer's Disease Completed NCT00096473 Phase 3
45 Open Label Pilot Study of the Effects of Memantine on FDG-PET in Frontotemporal Dementia Completed NCT00594737 Phase 3
46 Sleep and Tolerability Study: Comparing the Effects of Adderall XR and Focalin XR Completed NCT00393042 Phase 3
47 Aripiprazole for the Treatment of Patients With Agitation Associated With Dementia of the Alzheimer's Type Recruiting NCT02168920 Phase 3
48 Long Term, Extension Study of the Safety and Efficacy of AVP-786 for the Treatment of Agitation in Patients With Dementia of the Alzheimer's Type Recruiting NCT02446132 Phase 3
49 Efficacy, Safety and Tolerability of AVP-786 for the Treatment of Agitation in Patients With Dementia of the Alzheimer's Type Recruiting NCT02442765 Phase 3
50 Efficacy, Safety, and Tolerability of AVP-786 for the Treatment of Agitation in Patients With Dementia of the Alzheimer's Type Recruiting NCT02442778 Phase 3

Search NIH Clinical Center for Alzheimer Disease, Type 3

Genetic Tests for Alzheimer Disease, Type 3

Genetic tests related to Alzheimer Disease, Type 3:

id Genetic test Affiliating Genes
1 Alzheimer Disease, Type 3 29
2 Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia 29
3 Alzheimer Disease Type 3 24 PSEN1

Anatomical Context for Alzheimer Disease, Type 3

Publications for Alzheimer Disease, Type 3

Variations for Alzheimer Disease, Type 3

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

66 (show top 50) (show all 73)
id Symbol AA change Variation ID SNP ID
1 PSEN1 p.Val82Leu VAR_006414 rs63749967
2 PSEN1 p.Val96Phe VAR_006415 rs63750601
3 PSEN1 p.Tyr115Cys VAR_006416 rs63750450
4 PSEN1 p.Tyr115His VAR_006417
5 PSEN1 p.Glu120Asp VAR_006418 rs63751272
6 PSEN1 p.Glu120Lys VAR_006419 rs63750800
7 PSEN1 p.Met139Ile VAR_006420 rs63750522
8 PSEN1 p.Met139Thr VAR_006421 rs63751106
9 PSEN1 p.Met139Val VAR_006422 rs63751037
10 PSEN1 p.Ile143Phe VAR_006423 rs63750322
11 PSEN1 p.Ile143Thr VAR_006424 rs63750004
12 PSEN1 p.Met146Leu VAR_006426 rs63750306
13 PSEN1 p.Met146Val VAR_006427 rs63750306
14 PSEN1 p.His163Arg VAR_006428 rs63750590
15 PSEN1 p.His163Tyr VAR_006429 rs63749885
16 PSEN1 p.Ser169Leu VAR_006430 rs63751210
17 PSEN1 p.Ser169Pro VAR_006431 rs63750418
18 PSEN1 p.Leu171Pro VAR_006432 rs63750963
19 PSEN1 p.Gly209Val VAR_006433 rs63750053
20 PSEN1 p.Ile213Thr VAR_006434 rs63751309
21 PSEN1 p.Ala231Thr VAR_006435 rs63749836
22 PSEN1 p.Ala231Val VAR_006436 rs63750799
23 PSEN1 p.Met233Thr VAR_006437 rs63751024
24 PSEN1 p.Leu235Pro VAR_006438 rs63749835
25 PSEN1 p.Ala246Glu VAR_006439 rs63750526
26 PSEN1 p.Leu250Ser VAR_006440 rs63751163
27 PSEN1 p.Ala260Val VAR_006441 rs63751420
28 PSEN1 p.Leu262Phe VAR_006442 rs63750248
29 PSEN1 p.Cys263Arg VAR_006443 rs63750543
30 PSEN1 p.Pro264Leu VAR_006444 rs63750301
31 PSEN1 p.Pro267Ser VAR_006445 rs63751229
32 PSEN1 p.Pro267Thr VAR_006446
33 PSEN1 p.Arg269Gly VAR_006447 rs63751019
34 PSEN1 p.Arg269His VAR_006448 rs63750900
35 PSEN1 p.Arg278Thr VAR_006449 rs63749891
36 PSEN1 p.Glu280Ala VAR_006450 rs63750231
37 PSEN1 p.Glu280Gly VAR_006451 rs63750231
38 PSEN1 p.Ala285Val VAR_006452 rs63751139
39 PSEN1 p.Leu286Val VAR_006453 rs63751235
40 PSEN1 p.Gly378Glu VAR_006455
41 PSEN1 p.Gly384Ala VAR_006456 rs63750646
42 PSEN1 p.Leu392Val VAR_006457 rs63751416
43 PSEN1 p.Cys410Tyr VAR_006458 rs661
44 PSEN1 p.Ala426Pro VAR_006459 rs63751223
45 PSEN1 p.Pro436Gln VAR_006460 rs28930977
46 PSEN1 p.Pro436Ser VAR_008141 rs63749925
47 PSEN1 p.Phe105Leu VAR_009208 rs63750321
48 PSEN1 p.Pro117Leu VAR_009209 rs63749805
49 PSEN1 p.Gly209Arg VAR_009210 rs63749880
50 PSEN1 p.Met233Leu VAR_009211 rs63751287

ClinVar genetic disease variations for Alzheimer Disease, Type 3:

6 (show all 38)
id 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.488A> G (p.His163Arg) single nucleotide variant Pathogenic rs63750590 GRCh37 Chromosome 14, 73653568: 73653568
3 PSEN1 NM_000021.3(PSEN1): c.737C> A (p.Ala246Glu) single nucleotide variant Pathogenic rs63750526 GRCh37 Chromosome 14, 73659540: 73659540
4 PSEN1 NM_000021.3(PSEN1): c.856C> G (p.Leu286Val) single nucleotide variant Pathogenic rs63751235 GRCh37 Chromosome 14, 73664825: 73664825
5 PSEN1 NM_000021.3(PSEN1): c.1229G> A (p.Cys410Tyr) single nucleotide variant Pathogenic rs661 GRCh37 Chromosome 14, 73683933: 73683933
6 PSEN1 NM_000021.3(PSEN1): c.415A> G (p.Met139Val) single nucleotide variant Pathogenic rs63751037 GRCh37 Chromosome 14, 73640350: 73640350
7 PSEN1 NM_000021.3(PSEN1): c.436A> G (p.Met146Val) single nucleotide variant Pathogenic rs63750306 GRCh37 Chromosome 14, 73640371: 73640371
8 PSEN1 NM_000021.3(PSEN1): c.487C> T (p.His163Tyr) single nucleotide variant Pathogenic rs63749885 GRCh37 Chromosome 14, 73653567: 73653567
9 PSEN1 NM_000021.3(PSEN1): c.839A> C (p.Glu280Ala) single nucleotide variant Pathogenic rs63750231 GRCh37 Chromosome 14, 73664808: 73664808
10 PSEN1 NM_000021.3(PSEN1): c.839A> G (p.Glu280Gly) single nucleotide variant Pathogenic rs63750231 GRCh37 Chromosome 14, 73664808: 73664808
11 PSEN1 NM_000021.3(PSEN1): c.799C> T (p.Pro267Ser) single nucleotide variant Pathogenic rs63751229 GRCh37 Chromosome 14, 73664768: 73664768
12 PSEN1 PSEN1, IVS8AS, G-T, -1 deletion Pathogenic
13 PSEN1 NM_000021.3(PSEN1): c.360A> T (p.Glu120Asp) single nucleotide variant Pathogenic rs63751272 GRCh37 Chromosome 14, 73640295: 73640295
14 PSEN1 NM_000021.3(PSEN1): c.1276G> C (p.Ala426Pro) single nucleotide variant Pathogenic rs63751223 GRCh37 Chromosome 14, 73685869: 73685869
15 PSEN1 NM_000021.3(PSEN1): c.438G> A (p.Met146Ile) single nucleotide variant Pathogenic rs63750391 GRCh37 Chromosome 14, 73640373: 73640373
16 PSEN1 NM_000021.3(PSEN1): c.749T> C (p.Leu250Ser) single nucleotide variant Pathogenic rs63751163 GRCh37 Chromosome 14, 73659552: 73659552
17 PSEN1 PSEN1, IVS4DS, 1-BP DEL, G deletion Pathogenic
18 PSEN1 NM_000021.3(PSEN1): c.1300_1301delGCinsTG (p.Ala434Cys) indel Pathogenic rs281875357 GRCh37 Chromosome 14, 73685893: 73685894
19 PSEN1 NM_000021.3(PSEN1): c.275G> C (p.Cys92Ser) single nucleotide variant Pathogenic rs63751141 GRCh37 Chromosome 14, 73637692: 73637692
20 PSEN1 NM_000021.3(PSEN1): c.617G> C (p.Gly206Ala) single nucleotide variant Pathogenic rs63750082 GRCh37 Chromosome 14, 73659420: 73659420
21 PSEN1 NM_000021.3(PSEN1): c.796G> A (p.Gly266Ser) single nucleotide variant Pathogenic rs121917807 GRCh37 Chromosome 14, 73664765: 73664765
22 PSEN1 NM_000021.3(PSEN1): c.338T> C (p.Leu113Pro) single nucleotide variant Pathogenic rs63751399 GRCh37 Chromosome 14, 73637755: 73637755
23 PSEN1 NM_000021.3(PSEN1): c.497T> C (p.Leu166Pro) single nucleotide variant Pathogenic rs63750265 GRCh37 Chromosome 14, 73653577: 73653577
24 PSEN1 NM_000021.3(PSEN1): c.520C> A (p.Leu174Met) single nucleotide variant Pathogenic rs63751144 GRCh37 Chromosome 14, 73653600: 73653600
25 PSEN1 NM_000021.3(PSEN1): c.548G> T (p.Gly183Val) single nucleotide variant Pathogenic rs63751068 GRCh37 Chromosome 14, 73653628: 73653628
26 PSEN1 NM_000021.3(PSEN1): c.1307C> A (p.Pro436Gln) single nucleotide variant Pathogenic rs121917808 GRCh37 Chromosome 14, 73685900: 73685900
27 PSEN1 PSEN1, 6-BP INS, NT715 insertion Pathogenic
28 PSEN1 NM_000021.3(PSEN1): c.833G> T (p.Arg278Ile) single nucleotide variant Pathogenic rs63749891 GRCh37 Chromosome 14, 73664802: 73664802
29 PSEN1 NM_000021.3(PSEN1): c.254T> C (p.Leu85Pro) single nucleotide variant Pathogenic rs63750599 GRCh37 Chromosome 14, 73637671: 73637671
30 PSEN1 PSEN1, 3-BP DEL deletion Pathogenic
31 PSEN1 NM_000021.3(PSEN1): c.1292C> A (p.Ala431Glu) single nucleotide variant Pathogenic rs63750083 GRCh37 Chromosome 14, 73685885: 73685885
32 PSEN1 NM_000021.3(PSEN1): c.236C> T (p.Ala79Val) single nucleotide variant Pathogenic rs63749824 GRCh37 Chromosome 14, 73637653: 73637653
33 PSEN1 NM_000021.3(PSEN1): c.509C> T (p.Ser170Phe) single nucleotide variant Pathogenic rs63750577 GRCh37 Chromosome 14, 73653589: 73653589
34 PSEN1 NM_000021.3(PSEN1): c.1175T> C (p.Leu392Pro) single nucleotide variant Pathogenic rs63750218 GRCh37 Chromosome 14, 73683879: 73683879
35 PSEN1 NM_000021.3(PSEN1): c.265G> T (p.Val89Leu) single nucleotide variant Pathogenic rs63750815 GRCh37 Chromosome 14, 73637682: 73637682
36 PSEN1 NM_000021.3(PSEN1): c.697A> G (p.Met233Val) single nucleotide variant Pathogenic rs63751287 GRCh37 Chromosome 14, 73659500: 73659500
37 PSEN1 NM_000021.3(PSEN1): c.767A> C (p.Tyr256Ser) single nucleotide variant Pathogenic rs63751320 GRCh37 Chromosome 14, 73659570: 73659570
38 PSEN1 NM_000021.3(PSEN1): c.1141C> G (p.Leu381Val) single nucleotide variant Pathogenic rs63750687 GRCh37 Chromosome 14, 73683845: 73683845

Expression for Alzheimer Disease, Type 3

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

Pathways for Alzheimer Disease, Type 3

Pathways related to Alzheimer Disease, Type 3 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.65 APP PSEN1 PSEN2
2 11.2 APP PSEN1 PSEN2
3 10.8 PSEN1 PSEN2
4 10.79 APP PSEN1 PSEN2
5 10.21 APP PSEN1 PSEN2
6 9.85 PSEN1 PSEN2

GO Terms for Alzheimer Disease, Type 3

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

id Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.8 APP CD46 PSEN1 PSEN2 SLC24A1
2 Golgi apparatus GO:0005794 9.77 ABCA7 APP CD46 PSEN1 PSEN2
3 dendritic shaft GO:0043198 9.32 APP PSEN1
4 RNA polymerase II transcription factor complex GO:0090575 9.26 CEBPA TCF3
5 smooth endoplasmic reticulum GO:0005790 9.16 APP PSEN1
6 cell surface GO:0009986 9.02 ABCA7 APP CD46 DSG2 PSEN1
7 ciliary rootlet GO:0035253 8.96 APP PSEN1

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 learning or memory GO:0007611 9.52 APP PSEN1
2 neuron apoptotic process GO:0051402 9.51 APP PSEN1
3 regulation of synaptic plasticity GO:0048167 9.49 APP PSEN1
4 membrane protein ectodomain proteolysis GO:0006509 9.48 PSEN1 PSEN2
5 regulation of protein binding GO:0043393 9.46 APP PSEN1
6 Notch receptor processing GO:0007220 9.43 PSEN1 PSEN2
7 beta-amyloid metabolic process GO:0050435 9.4 PSEN1 PSEN2
8 amyloid precursor protein catabolic process GO:0042987 9.37 PSEN1 PSEN2
9 cellular response to beta-amyloid GO:1904646 9.32 APP PSEN1
10 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.26 APP PSEN1
11 astrocyte activation involved in immune response GO:0002265 9.16 APP PSEN1
12 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 8.96 APP PSEN1
13 Notch signaling pathway GO:0007219 8.92 APP CEBPA PSEN1 PSEN2

Molecular functions related to Alzheimer Disease, Type 3 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 aspartic-type endopeptidase activity GO:0004190 8.96 PSEN1 PSEN2
2 endopeptidase activity GO:0004175 8.8 CD46 PSEN1 PSEN2

Sources for Alzheimer Disease, Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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