MCID: DMN016
MIFTS: 32

Dementia, Familial, Nonspecific malady

Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases categories

Summaries for Dementia, Familial, Nonspecific

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48OMIM, 34MalaCards
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MalaCards: Dementia, Familial, Nonspecific, also known as behavioral variant of frontotemporal dementia, is related to frontotemporal dementia and dementia. An important gene associated with Dementia, Familial, Nonspecific is CHMP2B (charged multivesicular body protein 2B), and among its related pathways is Alzheimers Disease Pathway. The compounds spec-t and vitamin b12 have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotype immune system.

Description from OMIM:48 600795

Aliases & Classifications for Dementia, Familial, Nonspecific

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63UMLS, 48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Mental diseases


Characteristics (Orphanet epidemiological data):

50
behavioral variant of frontotemporal dementia:
Inheritance: Autosomal dominant; Age of onset: Adulthood; Age of death: Elderly


Aliases & Descriptions:

dementia, familial, nonspecific 48
behavioral variant of frontotemporal dementia 50
frontotemporal dementia 63
bv-ftd 50


External Ids:

OMIM48 600795
ICD10 via Orphanet27 G31.0

Related Diseases for Dementia, Familial, Nonspecific

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Dementia, Familial, Nonspecific:



Diseases related to dementia, familial, nonspecific

Symptoms for Dementia, Familial, Nonspecific

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48OMIM
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Symptoms by clinical synopsis from OMIM:

600795

Clinical features from OMIM:

600795

Drugs & Therapeutics for Dementia, Familial, Nonspecific

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

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Drug clinical trials:

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Search NIH Clinical Center for Dementia, Familial, Nonspecific

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Genetic Tests for Dementia, Familial, Nonspecific

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Anatomical Context for Dementia, Familial, Nonspecific

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34MalaCards
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MalaCards organs/tissues related to Dementia, Familial, Nonspecific:

34
Brain

Animal Models for Dementia, Familial, Nonspecific or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Dementia, Familial, Nonspecific:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053877.6TREM2, GRN, MAPT, PSEN1, VCP

Publications for Dementia, Familial, Nonspecific

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Variations for Dementia, Familial, Nonspecific

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Dementia, Familial, Nonspecific:

65
id Symbol AA change Variation ID SNP ID
1CHMP2Bp.Asp148TyrVAR_023383

Clinvar genetic disease variations for Dementia, Familial, Nonspecific:

1 (show all 22)
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
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
14CHMP2BCHMP2B, IVS5AS, G-Csingle nucleotide variantPathogenic
15CHMP2BNM_014043.3(CHMP2B): c.442G> T (p.Asp148Tyr)single nucleotide variantPathogenicrs63750653GRCh37Chr 3, 87302571: 87302571
16CHMP2BNM_014043.3(CHMP2B): c.618A> C (p.Gln206His)single nucleotide variantPathogenicrs63751126GRCh37Chr 3, 87302948: 87302948
17CHMP2BNM_014043.3(CHMP2B): c.493C> T (p.Gln165Ter)single nucleotide variantPathogenicrs63750355GRCh37Chr 3, 87302622: 87302622
18PSEN1NM_000021.3(PSEN1): c.338T> C (p.Leu113Pro)single nucleotide variantPathogenicrs63751399GRCh37Chr 14, 73637755: 73637755
19CHMP2BNM_014043.3(CHMP2B): c.532-1G> Asingle nucleotide variantPathogenicrs63750652GRCh37Chr 3, 87302861: 87302861
20CHMP2BNM_014043.3(CHMP2B): c.556C> T (p.Arg186Ter)single nucleotide variantPathogenicrs63751048GRCh37Chr 3, 87302886: 87302886
21CHMP2BNM_014043.3(CHMP2B): c.85A> G (p.Ile29Val)single nucleotide variantPathogenicrs63750818GRCh37Chr 3, 87289899: 87289899
22CHMP2BNM_014043.3(CHMP2B): c.311C> A (p.Thr104Asn)single nucleotide variantPathogenic, Uncertain significancers281864934GRCh37Chr 3, 87295048: 87295048

Expression for genes affiliated with Dementia, Familial, Nonspecific

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dementia, Familial, Nonspecific

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Pathways for genes affiliated with Dementia, Familial, Nonspecific

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51PathCards, 54QIAGEN
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Pathways related to Dementia, Familial, Nonspecific according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3MAPT, PSEN1

Compounds for genes affiliated with Dementia, Familial, Nonspecific

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46Novoseek, 25HMDB, 30IUPHAR, 12DrugBank
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Compounds related to Dementia, Familial, Nonspecific according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1spec-t469.5MAPT, PSEN1
2vitamin b12469.4PSEN1, MAPT
34-hydroxynonenal46 2510.4MAPT, PSEN1
4lactacystin469.3PSEN1, MAPT
5carbachol46 30 1211.3MAPT, PSEN1
6kainate46 3010.2MAPT, PSEN1
7glutamine468.7MAPT, PSEN1, VCP
8threonine468.2MAPT, PSEN1, VCP

GO Terms for genes affiliated with Dementia, Familial, Nonspecific

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17Gene Ontology
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Cellular components related to Dementia, Familial, Nonspecific according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1growth coneGO:0304269.3MAPT, PSEN1

Biological processes related to Dementia, Familial, Nonspecific according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neuron migrationGO:0017649.3MAPT, PSEN1
2cell deathGO:0082199.0GRN, CHMP2B, C9orf72
3positive regulation of proteasomal ubiquitin-dependent protein catabolic processGO:0324368.7PSEN1, VCP

Products for genes affiliated with Dementia, Familial, Nonspecific

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dementia, Familial, Nonspecific

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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