MCID: ALZ026
MIFTS: 11

Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia malady

Genetic diseases (common) category

Summaries for Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia

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48OMIM, 34MalaCards
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MalaCards: Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia An important gene associated with Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia is PSEN1 (presenilin 1).

Description from OMIM:48 607822

Aliases & Classifications for Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia

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48OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

alzheimer disease, type 3, with spastic paraparesis and apraxia 48


Related Diseases for Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia

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Symptoms for Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia

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48OMIM
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Clinical features from OMIM:

607822

Drugs & Therapeutics for Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia

Drug clinical trials:

Search ClinicalTrials for Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia

Search NIH Clinical Center for Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia

Search CenterWatch for Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia

Genetic Tests for Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia

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Anatomical Context for Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia

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Animal Models for Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia or affiliated genes

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Publications for Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia

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Variations for Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia:

65 (show all 71)
id Symbol AA change Variation ID SNP ID
1PSEN1p.Ala79ValVAR_006413
2PSEN1p.Val82LeuVAR_006414
3PSEN1p.Val96PheVAR_006415
4PSEN1p.Tyr115CysVAR_006416
5PSEN1p.Tyr115HisVAR_006417
6PSEN1p.Glu120AspVAR_006418
7PSEN1p.Glu120LysVAR_006419
8PSEN1p.Met139IleVAR_006420
9PSEN1p.Met139ThrVAR_006421
10PSEN1p.Met139ValVAR_006422
11PSEN1p.Ile143PheVAR_006423
12PSEN1p.Ile143ThrVAR_006424
13PSEN1p.Met146IleVAR_006425
14PSEN1p.Met146LeuVAR_006426
15PSEN1p.Met146ValVAR_006427
16PSEN1p.His163ArgVAR_006428
17PSEN1p.His163TyrVAR_006429
18PSEN1p.Ser169LeuVAR_006430
19PSEN1p.Ser169ProVAR_006431
20PSEN1p.Leu171ProVAR_006432
21PSEN1p.Gly209ValVAR_006433
22PSEN1p.Ile213ThrVAR_006434
23PSEN1p.Ala231ThrVAR_006435
24PSEN1p.Ala231ValVAR_006436
25PSEN1p.Met233ThrVAR_006437
26PSEN1p.Ala246GluVAR_006439
27PSEN1p.Leu250SerVAR_006440
28PSEN1p.Ala260ValVAR_006441
29PSEN1p.Leu262PheVAR_006442
30PSEN1p.Cys263ArgVAR_006443
31PSEN1p.Pro264LeuVAR_006444
32PSEN1p.Pro267SerVAR_006445
33PSEN1p.Pro267ThrVAR_006446
34PSEN1p.Arg269GlyVAR_006447
35PSEN1p.Arg269HisVAR_006448
36PSEN1p.Arg278ThrVAR_006449
37PSEN1p.Glu280AlaVAR_006450
38PSEN1p.Glu280GlyVAR_006451
39PSEN1p.Ala285ValVAR_006452
40PSEN1p.Leu286ValVAR_006453
41PSEN1p.Gly378GluVAR_006455
42PSEN1p.Gly384AlaVAR_006456
43PSEN1p.Leu392ValVAR_006457
44PSEN1p.Cys410TyrVAR_006458rs661
45PSEN1p.Ala426ProVAR_006459
46PSEN1p.Pro436GlnVAR_006460rs28930977
47PSEN1p.Pro436SerVAR_008141
48PSEN1p.Phe105LeuVAR_009208
49PSEN1p.Pro117LeuVAR_009209
50PSEN1p.Gly209ArgVAR_009210
51PSEN1p.Met233LeuVAR_009211
52PSEN1p.Leu282ArgVAR_009212
53PSEN1p.Ala409ThrVAR_009213
54PSEN1p.Thr116AsnVAR_010120
55PSEN1p.Asn135AspVAR_010121
56PSEN1p.Met139LysVAR_010122
57PSEN1p.Thr147IleVAR_010123
58PSEN1p.Trp165CysVAR_010124
59PSEN1p.Leu173TrpVAR_010125
60PSEN1p.Leu219ProVAR_010126
61PSEN1p.Ser289CysVAR_010127
62PSEN1p.Ser390IleVAR_010128
63PSEN1p.Asn405SerVAR_010129
64PSEN1p.Cys92SerVAR_016214
65PSEN1p.Leu166ProVAR_016216
66PSEN1p.Leu174MetVAR_016217
67PSEN1p.Gly206AlaVAR_016218
68PSEN1p.Gly266SerVAR_016219
69PSEN1p.Leu271ValVAR_016220
70PSEN1p.Ala431GluVAR_025605
71PSEN1p.Leu262ValVAR_070025

Clinvar genetic disease variations for Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia:

1 (show all 33)
id Gene Name Type Significance SNP ID Assembly Location
1PSEN1NM_000021.3(PSEN1): c.436A> C (p.Met146Leu)single nucleotide variantPathogenicrs63750306GRCh37Chr 14, 73640371: 73640371
2PSEN1NM_000021.3(PSEN1): c.488A> G (p.His163Arg)single nucleotide variantPathogenicrs63750590GRCh37Chr 14, 73653568: 73653568
3PSEN1NM_000021.3(PSEN1): c.737C> A (p.Ala246Glu)single nucleotide variantPathogenicrs63750526GRCh37Chr 14, 73659540: 73659540
4PSEN1NM_000021.3(PSEN1): c.856C> G (p.Leu286Val)single nucleotide variantPathogenicrs63751235GRCh37Chr 14, 73664825: 73664825
5PSEN1NM_000021.3(PSEN1): c.1229G> A (p.Cys410Tyr)single nucleotide variantPathogenicrs661GRCh37Chr 14, 73683933: 73683933
6PSEN1NM_000021.3(PSEN1): c.415A> G (p.Met139Val)single nucleotide variantPathogenicrs63751037GRCh37Chr 14, 73640350: 73640350
7PSEN1NM_000021.3(PSEN1): c.436A> G (p.Met146Val)single nucleotide variantPathogenicrs63750306GRCh37Chr 14, 73640371: 73640371
8PSEN1NM_000021.3(PSEN1): c.487C> T (p.His163Tyr)single nucleotide variantPathogenicrs63749885GRCh37Chr 14, 73653567: 73653567
9PSEN1NM_000021.3(PSEN1): c.839A> C (p.Glu280Ala)single nucleotide variantPathogenicrs63750231GRCh37Chr 14, 73664808: 73664808
10PSEN1NM_000021.3(PSEN1): c.839A> G (p.Glu280Gly)single nucleotide variantPathogenicrs63750231GRCh37Chr 14, 73664808: 73664808
11PSEN1NM_000021.3(PSEN1): c.799C> T (p.Pro267Ser)single nucleotide variantPathogenicrs63751229GRCh37Chr 14, 73664768: 73664768
12PSEN1PSEN1, IVS8AS, G-T, -1, EX9DELdeletionPathogenic
13PSEN1NM_000021.3(PSEN1): c.360A> T (p.Glu120Asp)single nucleotide variantPathogenicrs63751272GRCh37Chr 14, 73640295: 73640295
14PSEN1NM_000021.3(PSEN1): c.1276G> C (p.Ala426Pro)single nucleotide variantPathogenicrs63751223GRCh37Chr 14, 73685869: 73685869
15PSEN1NM_000021.3(PSEN1): c.438G> A (p.Met146Ile)single nucleotide variantPathogenicrs63750391GRCh37Chr 14, 73640373: 73640373
16PSEN1NM_000021.3(PSEN1): c.749T> C (p.Leu250Ser)single nucleotide variantPathogenicrs63751163GRCh37Chr 14, 73659552: 73659552
17PSEN1PSEN1, IVS4DS, 1-BP DEL, GdeletionPathogenic
18PSEN1NM_000021.3(PSEN1): c.1300_1301delGCinsTG (p.Ala434Cys)indelPathogenicrs281875357GRCh37Chr 14, 73685893: 73685894
19PSEN1NM_000021.3(PSEN1): c.275G> C (p.Cys92Ser)single nucleotide variantPathogenicrs63751141GRCh37Chr 14, 73637692: 73637692
20PSEN1NM_000021.3(PSEN1): c.617G> C (p.Gly206Ala)single nucleotide variantPathogenicrs63750082GRCh37Chr 14, 73659420: 73659420
21PSEN1NM_000021.3(PSEN1): c.338T> C (p.Leu113Pro)single nucleotide variantPathogenicrs63751399GRCh37Chr 14, 73637755: 73637755
22PSEN1NM_000021.3(PSEN1): c.497T> C (p.Leu166Pro)single nucleotide variantPathogenicrs63750265GRCh37Chr 14, 73653577: 73653577
23PSEN1NM_000021.3(PSEN1): c.520C> A (p.Leu174Met)single nucleotide variantPathogenicrs63751144GRCh37Chr 14, 73653600: 73653600
24PSEN1NM_000021.3(PSEN1): c.548G> T (p.Gly183Val)single nucleotide variantPathogenicrs63751068GRCh37Chr 14, 73653628: 73653628
25PSEN1NM_000021.3(PSEN1): c.1307C> A (p.Pro436Gln)single nucleotide variantPathogenicrs121917808GRCh37Chr 14, 73685900: 73685900
26PSEN1NM_000021.3(PSEN1): c.833G> T (p.Arg278Ile)single nucleotide variantPathogenicrs63749891GRCh37Chr 14, 73664802: 73664802
27PSEN1NM_000021.3(PSEN1): c.1292C> A (p.Ala431Glu)single nucleotide variantPathogenicrs63750083GRCh37Chr 14, 73685885: 73685885
28PSEN1NM_000021.3(PSEN1): c.236C> T (p.Ala79Val)single nucleotide variantPathogenicrs63749824GRCh37Chr 14, 73637653: 73637653
29PSEN1NM_000021.3(PSEN1): c.509C> T (p.Ser170Phe)single nucleotide variantPathogenicrs63750577GRCh37Chr 14, 73653589: 73653589
30PSEN1NM_000021.3(PSEN1): c.1175T> C (p.Leu392Pro)single nucleotide variantPathogenicrs63750218GRCh37Chr 14, 73683879: 73683879
31PSEN1NM_000021.3(PSEN1): c.265G> T (p.Val89Leu)single nucleotide variantPathogenicrs63750815GRCh37Chr 14, 73637682: 73637682
32PSEN1NM_000021.3(PSEN1): c.697A> G (p.Met233Val)single nucleotide variantPathogenicrs63751287GRCh37Chr 14, 73659500: 73659500
33PSEN1NM_000021.3(PSEN1): c.767A> C (p.Tyr256Ser)single nucleotide variantPathogenicrs63751320GRCh37Chr 14, 73659570: 73659570

Expression for genes affiliated with Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia

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Pathways for genes affiliated with Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia

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Compounds for genes affiliated with Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia

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GO Terms for genes affiliated with Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia

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Products for genes affiliated with Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet