AD3
MCID: ALZ056
MIFTS: 48

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 57 12 53 75
Alzheimer Disease, Type 3 57 29 13 6 40
Ad3 12 53 75
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia 29 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 75
Alzheimer Disease, Type 3, with Spastic Paraparesis and Unusual Plaques 57
Familial Alzheimer Disease 3 with Spastic Paraparesis and Apraxia 75
Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia 57
Early-Onset Familial Alzheimer Disease 3 75
Alzheimer Disease Early Onset Type 3 53
Alzheimer Disease, Familial, Type 3 73
Alzheimer Disease 3, Early-Onset 57
Alzheimer Disease 3, Early Onset 12
Alzheimer Disease, Familial, 3 57
Alzheimer Disease Familial 3 12
Familial Alzheimer Disease 3 75
Alzheimer Disease Type 3 53
Ad 57

Characteristics:

OMIM:

57
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:

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


Classifications:



Summaries for Alzheimer Disease 3

UniProtKB/Swiss-Prot : 75 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 dopa-responsive dystonia; segawa syndrome ad, and has symptoms including seizures, myoclonus and abnormality of extrapyramidal motor function. An important gene associated with Alzheimer Disease 3 is PSEN1 (Presenilin 1). Affiliated tissues include brain, kidney and lung, and related phenotypes are seizures and dysarthria

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 795)
# Related Disease Score Top Affiliating Genes
1 alzheimer disease 12.2
2 dopa-responsive dystonia; segawa syndrome ad 12.1
3 hyper-ige recurrent infection syndrome, autosomal dominant 11.9
4 immunodeficiency 27b 11.7
5 myopathy, centronuclear, 1 11.7
6 renal tubular acidosis, distal, autosomal dominant 11.7
7 hypocalcemia, autosomal dominant 1 11.6
8 alzheimer disease 2 11.5
9 dermatitis, atopic 11.2
10 early-onset, autosomal dominant alzheimer disease 11.2
11 frontotemporal dementia 11.2
12 posterior cortical atrophy 11.2
13 parkinson disease, late-onset 11.2
14 keratomalacia 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 spinal muscular atrophy, lower extremity-predominant, 2, autosomal dominant 11.1
24 immunodeficiency 31a 11.1
25 renal tubular acidosis, distal 11.1
26 immunodeficiency 27a 11.0
27 hyper-ige recurrent infection syndrome, autosomal recessive 11.0
28 alzheimer disease 6 11.0
29 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 11.0
30 spinal muscular atrophy 11.0
31 brachyolmia 11.0
32 polycystic liver disease 11.0
33 adjustment disorder 11.0
34 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 10.9
35 alzheimer disease mitochondrial 10.9
36 anauxetic dysplasia 1 10.9
37 mitochondrial dna depletion syndrome 12a , autosomal dominant 10.9
38 acute disseminated encephalomyelitis 10.9
39 autosomal dominant proximal renal tubular acidosis 10.9
40 anemia, congenital dyserythropoietic, type iii 10.8
41 dementia, lewy body 10.8
42 heinz body anemias 10.8
43 parkinson disease 1, autosomal dominant 10.8
44 pick disease of brain 10.8
45 spinocerebellar ataxia 2 10.8
46 vasculopathy, retinal, with cerebral leukodystrophy 10.8
47 epidermolysis bullosa junctionalis with pyloric atresia 10.8
48 fanconi anemia, complementation group a 10.8
49 fructose intolerance, hereditary 10.8
50 hypoascorbemia 10.8

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



Diseases related to Alzheimer Disease 3

Symptoms & Phenotypes for Alzheimer Disease 3

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Alzheimer Disease 3:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 dysarthria 32 HP:0001260
3 gait disturbance 32 HP:0001288
4 dysphagia 32 HP:0002015
5 myoclonus 32 HP:0001336
6 babinski sign 32 HP:0003487
7 dystonia 32 HP:0001332
8 cerebral cortical atrophy 32 HP:0002120
9 memory impairment 32 HP:0002354
10 apraxia 32 HP:0002186
11 dementia 32 HP:0000726
12 abnormality of extrapyramidal motor function 32 HP:0002071
13 spastic tetraparesis 32 HP:0001285
14 neurofibrillary tangles 32 HP:0002185
15 personality changes 32 HP:0000751
16 lower limb hyperreflexia 32 HP:0002395
17 agnosia 32 occasional (7.5%) HP:0010524
18 alzheimer disease 32 HP:0002511
19 optic ataxia 32 HP:0031868

UMLS symptoms related to Alzheimer Disease 3:


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

Drugs & Therapeutics for Alzheimer Disease 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of APH-1105 in Patients With Mild to Moderate Alzheimer's Disease Not yet recruiting NCT03806478 Phase 2 APH-1105

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 29 PSEN1
2 Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia 29

Anatomical Context for Alzheimer Disease 3

MalaCards organs/tissues related to Alzheimer Disease 3:

41
Brain, Kidney, Lung, Liver, Heart, Breast, Myeloid

Publications for Alzheimer Disease 3

Articles related to Alzheimer Disease 3:

# Title Authors Year
1
Alzheimer's disease: 3-Dimensional MRI texture for prediction of conversion from mild cognitive impairment. ( 30480081 )
2018
2
Serial EEG in Alzheimer's disease: 3 year follow-up and clinical outcome. ( 1718706 )
1991

Variations for Alzheimer Disease 3

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

75 (show top 50) (show all 73)
# 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 rs121917808
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 3:

6 (show top 50) (show all 94)
# 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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