MCID: DMN013
MIFTS: 25

Dementia, Frontotemporal, with or Without Parkinsonism malady

Genetic diseases (common), Mental diseases categories

Summaries for Dementia, Frontotemporal, with or Without Parkinsonism

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48OMIM, 34MalaCards
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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:48 600274

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

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48OMIM
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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 48


Related Diseases for Dementia, Frontotemporal, with or Without Parkinsonism

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18GeneCards, 19GeneDecks
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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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48OMIM
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Clinical features from OMIM:

600274

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

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

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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

Search CenterWatch 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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38MGI
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MGI Mouse Phenotypes related to Dementia, Frontotemporal, with or Without Parkinsonism:

38
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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Dementia, Frontotemporal, with or Without Parkinsonism:

65 (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, 16Gene 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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Sources:
51PathCards, 5Cell Signaling Technology, 31KEGG, 39NCBI BioSystems Database, 54QIAGEN
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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 Disease39
9.1MAPT, PSEN1
39.1MAPT, PSEN1

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

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46Novoseek, 25HMDB, 30IUPHAR, 12DrugBank
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Compounds related to Dementia, Frontotemporal, with or Without Parkinsonism according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1spec-t469.5MAPT, PSEN1
2vitamin b12469.5MAPT, PSEN1
34-hydroxynonenal46 2510.5PSEN1, MAPT
4lactacystin469.5MAPT, PSEN1
5kainate46 3010.5MAPT, PSEN1
6carbachol46 30 1211.5PSEN1, MAPT
7choline46 25 1211.4MAPT, PSEN1
8folate469.4MAPT, PSEN1
9valine469.4PSEN1, MAPT
10glycerol46 25 1211.4MAPT, PSEN1
11methionine469.4MAPT, PSEN1
12nmda46 3010.4PSEN1, MAPT
13glycogen46 2510.4MAPT, PSEN1
14proline469.4MAPT, PSEN1
15glutamine469.3PSEN1, MAPT
16aspartate469.3MAPT, PSEN1
17cycloheximide469.3MAPT, PSEN1
18h2o2469.2PSEN1, MAPT
19arginine469.2MAPT, PSEN1
20threonine469.1MAPT, PSEN1
21retinoic acid46 2510.1MAPT, PSEN1
22glutamate469.0PSEN1, MAPT
23alanine468.8MAPT, PSEN1

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

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17Gene 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
  • Proteins
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Sources for Dementia, Frontotemporal, with or Without Parkinsonism

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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