MCID: FRN030
MIFTS: 23

Frontotemporal Dementia with Parkinsonism-17 malady

Genetic diseases (common), Mental diseases categories

Aliases & Classifications for Frontotemporal Dementia with Parkinsonism-17

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Frontotemporal Dementia with Parkinsonism-17, Aliases & Descriptions:

Name: Frontotemporal Dementia with Parkinsonism-17 20 21
Disinhibition-Dementia-Parkinsonism-Amytrophy Complex 21
Wilhelmsen-Lynch Disease 21
Frontotemporal Dementia 60
 
Familial Pick's Disease 21
Ftdp-17 21
Ddpac 21


Classifications:

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


Summaries for Frontotemporal Dementia with Parkinsonism-17

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Genetics Home Reference:21 Frontotemporal dementia with parkinsonism-17 (FTDP-17) is a progressive brain disorder that affects behavior, language, and movement. The symptoms of this disorder usually become noticeable in a person's forties or fifties. Most affected people survive 5 to 10 years after the appearance of symptoms, although a few have survived for two decades or more.

MalaCards based summary: Frontotemporal Dementia with Parkinsonism-17, also known as disinhibition-dementia-parkinsonism-amytrophy complex, is related to dementia, frontotemporal and tauopathy. An important gene associated with Frontotemporal Dementia with Parkinsonism-17 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. Affiliated tissues include brain, and related mouse phenotype other.

Related Diseases for Frontotemporal Dementia with Parkinsonism-17

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Graphical network of the top 20 diseases related to Frontotemporal Dementia with Parkinsonism-17:



Diseases related to frontotemporal dementia with parkinsonism-17

Symptoms for Frontotemporal Dementia with Parkinsonism-17

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Drugs & Therapeutics for Frontotemporal Dementia with Parkinsonism-17

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Drug clinical trials:

Search ClinicalTrials for Frontotemporal Dementia with Parkinsonism-17

Search NIH Clinical Center for Frontotemporal Dementia with Parkinsonism-17

Genetic Tests for Frontotemporal Dementia with Parkinsonism-17

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Genetic tests related to Frontotemporal Dementia with Parkinsonism-17:

id Genetic test Affiliating Genes
1 Frontotemporal Dementia with Parkinsonism-1720

Anatomical Context for Frontotemporal Dementia with Parkinsonism-17

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MalaCards organs/tissues related to Frontotemporal Dementia with Parkinsonism-17:

31
Brain

Animal Models for Frontotemporal Dementia with Parkinsonism-17 or affiliated genes

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MGI Mouse Phenotypes related to Frontotemporal Dementia with Parkinsonism-17:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.1MAPT, PSEN1

Publications for Frontotemporal Dementia with Parkinsonism-17

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Variations for Frontotemporal Dementia with Parkinsonism-17

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Clinvar genetic disease variations for Frontotemporal Dementia with Parkinsonism-17:

6 (show all 14)
id Gene Variation 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
5MAPTNM_016835.4(MAPT): c.1960G> A (p.Val654Met)single nucleotide variantPathogenicrs63750570GRCh37Chr 17, 44095995: 44095995
6MAPTNM_016835.4(MAPT): c.1788T> G (p.Asn596Lys)single nucleotide variantPathogenicrs63750756GRCh37Chr 17, 44087690: 44087690
7MAPTNM_016835.4(MAPT): c.1865G> A (p.Ser622Asn)single nucleotide variantPathogenicrs63751165GRCh37Chr 17, 44087767: 44087767
8MAPTNM_016835.4(MAPT): c.1852C> T (p.Pro618Ser)single nucleotide variantPathogenicrs63751438GRCh37Chr 17, 44087754: 44087754
9MAPTNM_016835.4(MAPT): c.1839T> C (p.Asn613=)single nucleotide variantPathogenicrs63750912GRCh37Chr 17, 44087741: 44087741
10MAPTNM_016835.4(MAPT): c.1976A> T (p.Glu659Val)single nucleotide variantPathogenicrs63750711GRCh37Chr 17, 44096011: 44096011
11MAPTNM_016835.4(MAPT): c.14G> A (p.Arg5His)single nucleotide variantPathogenicrs63750959GRCh37Chr 17, 44039717: 44039717
12MAPTNM_016835.4(MAPT): c.1747C> G (p.Leu583Val)single nucleotide variantPathogenicrs63750349GRCh37Chr 17, 44074004: 44074004
13MAPTNM_016835.4(MAPT): c.1901A> T (p.Lys634Met)single nucleotide variantPathogenicrs63750092GRCh37Chr 17, 44091643: 44091643
14PSEN1NM_000021.3(PSEN1): c.338T> C (p.Leu113Pro)single nucleotide variantPathogenicrs63751399GRCh37Chr 14, 73637755: 73637755

Expression for genes affiliated with Frontotemporal Dementia with Parkinsonism-17

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Search GEO for disease gene expression data for Frontotemporal Dementia with Parkinsonism-17.

Pathways for genes affiliated with Frontotemporal Dementia with Parkinsonism-17

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Pathways related to Frontotemporal Dementia with Parkinsonism-17 according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1MAPT, PSEN1
2
Show member pathways
Alzheimers Disease36
9.1MAPT, PSEN1
39.1MAPT, PSEN1

Compounds for genes affiliated with Frontotemporal Dementia with Parkinsonism-17

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Sources:
43Novoseek, 24HMDB, 28IUPHAR, 12DrugBank
See all sources

Compounds related to Frontotemporal Dementia with Parkinsonism-17 according to GeneCards Suite gene sharing:

(show all 23)
idCompoundScoreTop Affiliating Genes
1spec-t439.5MAPT, PSEN1
2vitamin b12439.5MAPT, PSEN1
34-hydroxynonenal43 2410.5PSEN1, MAPT
4lactacystin439.5MAPT, PSEN1
5kainate43 2810.5MAPT, PSEN1
6carbachol43 28 1211.5PSEN1, MAPT
7choline43 24 1211.4MAPT, PSEN1
8folate439.4MAPT, PSEN1
9valine439.4PSEN1, MAPT
10glycerol43 24 1211.4MAPT, PSEN1
11methionine439.4MAPT, PSEN1
12nmda43 2810.4PSEN1, MAPT
13glycogen43 2410.4MAPT, PSEN1
14proline439.4MAPT, PSEN1
15glutamine439.3PSEN1, MAPT
16aspartate439.3MAPT, PSEN1
17cycloheximide439.3MAPT, PSEN1
18h2o2439.2PSEN1, MAPT
19arginine439.2MAPT, PSEN1
20threonine439.1MAPT, PSEN1
21retinoic acid43 2410.1MAPT, PSEN1
22glutamate439.0PSEN1, MAPT
23alanine438.8MAPT, PSEN1

GO Terms for genes affiliated with Frontotemporal Dementia with Parkinsonism-17

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Cellular components related to Frontotemporal Dementia with Parkinsonism-17 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1axonGO:00304249.1MAPT, PSEN1
2growth coneGO:00304268.8MAPT, PSEN1

Biological processes related to Frontotemporal Dementia with Parkinsonism-17 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1neuron migrationGO:00017649.1MAPT, PSEN1

Products for genes affiliated with Frontotemporal Dementia with Parkinsonism-17

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Frontotemporal Dementia with Parkinsonism-17

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet