MCID: DMN016
MIFTS: 32

Dementia, Familial, Nonspecific malady

Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases categories
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Summaries for Dementia, Familial, Nonspecific

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MalaCards based summary: Dementia, Familial, Nonspecific, also known as behavioral variant of frontotemporal dementia, is related to frontotemporal dementia and dementia, and has symptoms including 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:46 600795

Aliases & Classifications for Dementia, Familial, Nonspecific

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Sources:
62UMLS, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
See all sources

Dementia, Familial, Nonspecific, Aliases & Descriptions:

Name: Dementia, Familial, Nonspecific 46
Behavioral Variant of Frontotemporal Dementia 48
 
Frontotemporal Dementia 62
Bv-Ftd 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
behavioral variant of frontotemporal dementia:
Inheritance: Autosomal dominant; Age of onset: Adulthood; Age of death: Elderly


External Ids:

OMIM46 600795
ICD10 via Orphanet26 G31.0

Related Diseases for Dementia, Familial, Nonspecific

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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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Symptoms by clinical synopsis from OMIM:

600795

Clinical features from OMIM:

600795

HPO human phenotypes related to Dementia, Familial, Nonspecific:

(show all 26)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 urinary incontinence HP:0000020
3 hyperorality HP:0000710
4 restlessness HP:0000711
5 aggressive behavior HP:0000718
6 stereotypic behavior HP:0000733
7 disinhibition HP:0000734
8 apathy HP:0000741
9 frontal release signs HP:0000743
10 personality changes HP:0000751
11 lack of insight HP:0000757
12 gait disturbance HP:0001288
13 dystonia HP:0001332
14 myoclonus HP:0001336
15 hyperreflexia HP:0001347
16 rigidity HP:0002063
17 cerebral cortical atrophy HP:0002120
18 frontotemporal dementia HP:0002145
19 mutism HP:0002300
20 orofacial dyskinesia HP:0002310
21 memory impairment HP:0002354
22 loss of speech HP:0002371
23 dyscalculia HP:0002442
24 astrocytosis HP:0002446
25 neuronal loss in central nervous system HP:0002529
26 babinski sign HP:0003487

Drugs & Therapeutics for Dementia, Familial, Nonspecific

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Drug clinical trials:

Search ClinicalTrials for Dementia, Familial, Nonspecific

Search NIH Clinical Center for Dementia, Familial, Nonspecific

Genetic Tests for Dementia, Familial, Nonspecific

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Anatomical Context for Dementia, Familial, Nonspecific

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

32
Brain

Animal Models for Dementia, Familial, Nonspecific or affiliated genes

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MGI Mouse Phenotypes related to Dementia, Familial, Nonspecific:

36
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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UniProtKB/Swiss-Prot genetic disease variations for Dementia, Familial, Nonspecific:

64
id Symbol AA change Variation ID SNP ID
1CHMP2Bp.Asp148TyrVAR_023383

Clinvar genetic disease variations for Dementia, Familial, Nonspecific:

6 (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 variantPathogenicrs281864934GRCh37Chr 3, 87295048: 87295048

Expression for genes affiliated with Dementia, Familial, Nonspecific

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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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Pathways related to Dementia, Familial, Nonspecific according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6MAPT, PSEN1

Compounds for genes affiliated with Dementia, Familial, Nonspecific

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Sources:
44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank
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Compounds related to Dementia, Familial, Nonspecific according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1spec-t449.8MAPT, PSEN1
2vitamin b12449.7PSEN1, MAPT
34-hydroxynonenal44 2410.7MAPT, PSEN1
4lactacystin449.6PSEN1, MAPT
5carbachol44 28 1111.6MAPT, PSEN1
6kainate44 2810.5MAPT, PSEN1
7glutamine448.9MAPT, PSEN1, VCP
8threonine448.5MAPT, PSEN1, VCP

GO Terms for genes affiliated with Dementia, Familial, Nonspecific

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

idNameGO IDScoreTop Affiliating Genes
1growth coneGO:0304269.6MAPT, PSEN1

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

idNameGO IDScoreTop Affiliating Genes
1neuron migrationGO:0017649.6MAPT, PSEN1
2positive regulation of proteasomal ubiquitin-dependent protein catabolic processGO:0324368.9PSEN1, VCP
3cell deathGO:0082198.9GRN, CHMP2B, C9orf72

Products for genes affiliated with Dementia, Familial, Nonspecific

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  • Antibodies
  • Proteins
  • Lysates

Sources for Dementia, Familial, Nonspecific

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet