MCID: DMN013
MIFTS: 25

Dementia, Frontotemporal, with or Without Parkinsonism malady

Genetic diseases (common), Mental diseases categories
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Summaries for Dementia, Frontotemporal, with or Without Parkinsonism

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47OMIM, 33MalaCards
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MalaCards: Dementia, Frontotemporal, with or Without Parkinsonism is related to semantic dementia and alzheimer disease type 2. An important gene associated with Dementia, Frontotemporal, with or Without Parkinsonism is MAPT (microtubule-associated protein tau), and among its related pathways are Neuroscience and Alzheimer's disease. The compounds spec-t and vitamin b12 have been mentioned in the context of this disorder. Related mouse phenotype other.

Description from OMIM:47 600274

Aliases & Classifications for Dementia, Frontotemporal, with or Without Parkinsonism

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Classifications:

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


Aliases & Descriptions:

dementia, frontotemporal, with or without parkinsonism 47


Related Diseases for Dementia, Frontotemporal, with or Without Parkinsonism

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Dementia, Frontotemporal, with or Without Parkinsonism:



Diseases related to dementia, frontotemporal, with or without parkinsonism

Symptoms for Dementia, Frontotemporal, with or Without Parkinsonism

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47OMIM
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Clinical features from OMIM:

600274

Drugs & Therapeutics for Dementia, Frontotemporal, with or Without Parkinsonism

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Dementia, Frontotemporal, with or Without Parkinsonism

Search NIH Clinical Center for Dementia, Frontotemporal, with or Without Parkinsonism

Genetic Tests for Dementia, Frontotemporal, with or Without Parkinsonism

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Anatomical Context for Dementia, Frontotemporal, with or Without Parkinsonism

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Animal Models for Dementia, Frontotemporal, with or Without Parkinsonism or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Dementia, Frontotemporal, with or Without Parkinsonism:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.1MAPT, PSEN1

Publications for Dementia, Frontotemporal, with or Without Parkinsonism

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Variations for Dementia, Frontotemporal, with or Without Parkinsonism

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Dementia, Frontotemporal, with or Without Parkinsonism:

64 (show all 12)
id Symbol AA change Variation ID SNP ID
1MAPTp.Gly589ValVAR_010345
2MAPTp.Asn596LysVAR_010346
3MAPTp.Pro618LeuVAR_010348
4MAPTp.Pro618SerVAR_010349
5MAPTp.Ser622AsnVAR_010350
6MAPTp.Val654MetVAR_010351
7MAPTp.Arg5HisVAR_019660rs63750959
8MAPTp.Leu583ValVAR_019662
9MAPTp.Asn613HisVAR_019663
10MAPTp.Glu659ValVAR_019666
11MAPTp.Lys634MetVAR_037440
12PSEN1p.Leu113ProVAR_016215

Clinvar genetic disease variations for Dementia, Frontotemporal, with or Without Parkinsonism:

1 (show all 18)
id Gene Name Type Significance SNP ID Assembly Location
1MAPTNM_016835.4(MAPT): c.1853C> T (p.Pro618Leu)single nucleotide variantPathogenicrs63751273GRCh37Chr 17, 44087755: 44087755
2MAPTNM_016835.4(MAPT): c.1766G> T (p.Gly589Val)single nucleotide variantPathogenicrs63750376GRCh37Chr 17, 44074023: 44074023
3MAPTNM_016835.4(MAPT): c.2167C> T (p.Arg723Trp)single nucleotide variantPathogenicrs63750424GRCh37Chr 17, 44101427: 44101427
4MAPTNM_016835.4(MAPT): c.1866+14C> Tsingle nucleotide variantPathogenicrs63750972GRCh37Chr 17, 44087782: 44087782
5MAPTMAPT, IVS10, A-G, +13single nucleotide variantPathogenic
6MAPTMAPT, IVS10, C-T, +16single nucleotide variantPathogenic
7MAPTMAPT, IVS10, G-A, +1single nucleotide variantPathogenic
8MAPTNM_016835.4(MAPT): c.1960G> A (p.Val654Met)single nucleotide variantPathogenicrs63750570GRCh37Chr 17, 44095995: 44095995
9MAPTNM_016835.4(MAPT): c.1788T> G (p.Asn596Lys)single nucleotide variantPathogenicrs63750756GRCh37Chr 17, 44087690: 44087690
10MAPTNM_016835.4(MAPT): c.1865G> A (p.Ser622Asn)single nucleotide variantPathogenicrs63751165GRCh37Chr 17, 44087767: 44087767
11MAPTNM_016835.4(MAPT): c.1852C> T (p.Pro618Ser)single nucleotide variantPathogenicrs63751438GRCh37Chr 17, 44087754: 44087754
12MAPTNM_016835.4(MAPT): c.1839T> C (p.Asn613=)single nucleotide variantPathogenicrs63750912GRCh37Chr 17, 44087741: 44087741
13MAPTNM_016835.4(MAPT): c.1976A> T (p.Glu659Val)single nucleotide variantPathogenicrs63750711GRCh37Chr 17, 44096011: 44096011
14MAPTNM_016835.4(MAPT): c.14G> A (p.Arg5His)single nucleotide variantPathogenicrs63750959GRCh37Chr 17, 44039717: 44039717
15MAPTMAPT, IVS10, T-C, +11single nucleotide variantPathogenic
16MAPTNM_016835.4(MAPT): c.1747C> G (p.Leu583Val)single nucleotide variantPathogenicrs63750349GRCh37Chr 17, 44074004: 44074004
17MAPTNM_016835.4(MAPT): c.1901A> T (p.Lys634Met)single nucleotide variantPathogenicrs63750092GRCh37Chr 17, 44091643: 44091643
18PSEN1NM_000021.3(PSEN1): c.338T> C (p.Leu113Pro)single nucleotide variantPathogenicrs63751399GRCh37Chr 14, 73637755: 73637755

Expression for genes affiliated with Dementia, Frontotemporal, with or Without Parkinsonism

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dementia, Frontotemporal, with or Without Parkinsonism

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Pathways for genes affiliated with Dementia, Frontotemporal, with or Without Parkinsonism

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50PathCards, 5Cell Signaling Technology, 30KEGG, 38NCBI BioSystems Database, 53QIAGEN
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Pathways related to Dementia, Frontotemporal, with or Without Parkinsonism according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1MAPT, PSEN1
2
Show member pathways
Alzheimers Disease38
9.1MAPT, PSEN1
39.1MAPT, PSEN1

Compounds for genes affiliated with Dementia, Frontotemporal, with or Without Parkinsonism

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45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank
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Compounds related to Dementia, Frontotemporal, with or Without Parkinsonism according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1spec-t459.5MAPT, PSEN1
2vitamin b12459.5MAPT, PSEN1
34-hydroxynonenal45 2410.5PSEN1, MAPT
4lactacystin459.5MAPT, PSEN1
5kainate45 2910.5MAPT, PSEN1
6carbachol45 29 1111.5PSEN1, MAPT
7choline45 24 1111.4MAPT, PSEN1
8folate459.4MAPT, PSEN1
9valine459.4PSEN1, MAPT
10glycerol45 24 1111.4MAPT, PSEN1
11methionine459.4MAPT, PSEN1
12nmda45 2910.4PSEN1, MAPT
13glycogen45 2410.4MAPT, PSEN1
14proline459.4MAPT, PSEN1
15glutamine459.3PSEN1, MAPT
16aspartate459.3MAPT, PSEN1
17cycloheximide459.3MAPT, PSEN1
18h2o2459.2PSEN1, MAPT
19arginine459.2MAPT, PSEN1
20threonine459.1MAPT, PSEN1
21retinoic acid45 2410.1MAPT, PSEN1
22glutamate459.0PSEN1, MAPT
23alanine458.8MAPT, PSEN1

GO Terms for genes affiliated with Dementia, Frontotemporal, with or Without Parkinsonism

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16Gene Ontology
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Cellular components related to Dementia, Frontotemporal, with or Without Parkinsonism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1axonGO:0304249.1MAPT, PSEN1
2growth coneGO:0304268.8MAPT, PSEN1

Biological processes related to Dementia, Frontotemporal, with or Without Parkinsonism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neuron migrationGO:0017649.1MAPT, PSEN1

Products for genes affiliated with Dementia, Frontotemporal, with or Without Parkinsonism

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  • Antibodies
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Sources for Dementia, Frontotemporal, with or Without Parkinsonism

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet