MCID: DMN016
MIFTS: 28

Dementia, Familial, Nonspecific malady

Categories: Genetic diseases (common), Mental diseases

Aliases & Classifications for Dementia, Familial, Nonspecific

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Aliases & Descriptions for Dementia, Familial, Nonspecific:

Name: Dementia, Familial, Nonspecific 50 12
Frontotemporal Dementia, Chromosome 3-Linked 22 23 68 66
Ftd-3 22 23 24
Ftd3 23 24 68
 
Chromosome 3-Linked Frontotemporal Dementia 24 25
Chmp2b-Related Frontotemporal Dementia 23 24
Ftd-Chmp2b 24
Dtm1 24

Characteristics:

HPO:

62
dementia, familial, nonspecific:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 600795
MedGen35 C1833296

Summaries for Dementia, Familial, Nonspecific

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OMIM:50 A substantial minority of degenerative dementias, perhaps 10%, lack the distinctive pathologic features that allow... (600795) more...

MalaCards based summary: Dementia, Familial, Nonspecific, also known as frontotemporal dementia, chromosome 3-linked, is related to dementia and amyotrophic lateral sclerosis 17, and has symptoms including muscle rigidity, muscle rigidity and myoclonus. An important gene associated with Dementia, Familial, Nonspecific is CHMP2B (Charged Multivesicular Body Protein 2B). Affiliated tissues include brain.

Genetics Home Reference:24 CHMP2B-related frontotemporal dementia is a progressive brain disorder that affects personality, behavior, and language. The symptoms of this disorder usually become noticeable in a person's fifties or sixties, and affected people survive about 3 to 21 years after the appearance of symptoms.

UniProtKB/Swiss-Prot:68 Frontotemporal dementia, chromosome 3-linked: Characterized by an onset of dementia in the late 50's initially characterized by behavioral and personality changes including apathy, restlessness, disinhibition and hyperorality, progressing to stereotyped behaviors, non-fluent aphasia, mutism and dystonia, with a marked lack of insight. The brains of individuals with FTD3 have no distinctive neuropathological features. They show global cortical and central atrophy, but no beta-amyloid deposits.

GeneReviews summary for NBK1199

Related Diseases for Dementia, Familial, Nonspecific

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Diseases related to Dementia, Familial, Nonspecific via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1dementia10.2
2amyotrophic lateral sclerosis 179.5CHMP2B, SLC11A2
3dementia, familial, nonspecific9.2CHMP2B, SLC11A2

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

UMLS symptoms related to Dementia, Familial, Nonspecific:


muscle rigidity, myoclonus, apathy, pyramidal sign, personality change, memory loss, restlessness

Drugs & Therapeutics for Dementia, Familial, Nonspecific

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Reducing Agitation in People With Dementia: the Customized Activity TrialRecruitingNCT01892579Phase 3

Search NIH Clinical Center for Dementia, Familial, Nonspecific

Genetic Tests for Dementia, Familial, Nonspecific

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Genetic tests related to Dementia, Familial, Nonspecific:

id Genetic test Affiliating Genes
1 Frontotemporal Dementia, Chromosome 3-Linked25 23 CHMP2B

Anatomical Context for Dementia, Familial, Nonspecific

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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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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:

68
id Symbol AA change Variation ID SNP ID
1CHMP2Bp.Asp148TyrVAR_023383rs63750653

Clinvar genetic disease variations for Dementia, Familial, Nonspecific:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CHMP2BCHMP2B, IVS5AS, G-Csingle nucleotide variantPathogenic
2CHMP2BNM_014043.3(CHMP2B): c.442G> T (p.Asp148Tyr)single nucleotide variantPathogenicrs63750653GRCh37Chr 3, 87302571: 87302571
3CHMP2BNM_014043.3(CHMP2B): c.618A> C (p.Gln206His)single nucleotide variantPathogenicrs63751126GRCh37Chr 3, 87302948: 87302948
4CHMP2BNM_014043.3(CHMP2B): c.493C> T (p.Gln165Ter)single nucleotide variantPathogenicrs63750355GRCh37Chr 3, 87302622: 87302622
5CHMP2BNM_014043.3(CHMP2B): c.532-1G> Asingle nucleotide variantPathogenicrs63750652GRCh37Chr 3, 87302861: 87302861
6CHMP2BNM_014043.3(CHMP2B): c.556C> T (p.Arg186Ter)single nucleotide variantPathogenicrs63751048GRCh37Chr 3, 87302886: 87302886
7CHMP2BNM_014043.3(CHMP2B): c.85A> G (p.Ile29Val)single nucleotide variantPathogenicrs63750818GRCh37Chr 3, 87289899: 87289899
8CHMP2BNM_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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Search GEO for disease gene expression data for Dementia, Familial, Nonspecific.

Pathways for genes affiliated with Dementia, Familial, Nonspecific

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GO Terms for genes affiliated with Dementia, Familial, Nonspecific

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Cellular components related to Dementia, Familial, Nonspecific according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1late endosome membraneGO:00319029.3CHMP2B, SLC11A2
2endosomeGO:00057689.1CHMP2B, SLC11A2

Sources for Dementia, Familial, Nonspecific

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet