MCID: DMN016
MIFTS: 27

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 49 11
Frontotemporal Dementia, Chromosome 3-Linked 21 22 67 65
Ftd-3 21 22 23
Ftd3 22 23 67
 
Chromosome 3-Linked Frontotemporal Dementia 23 24
Chmp2b-Related Frontotemporal Dementia 22 23
Ftd-Chmp2b 23
Dtm1 23

Characteristics:

HPO:

61
dementia, familial, nonspecific:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 600795
MedGen34 C1833296
UMLS65 C1833296

Summaries for Dementia, Familial, Nonspecific

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OMIM:49 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 angioedema and neuronitis, and has symptoms including babinski sign, neuronal loss in central nervous system and astrocytosis. An important gene associated with Dementia, Familial, Nonspecific is CHMP2B (Charged Multivesicular Body Protein 2B). Affiliated tissues include brain.

Genetics Home Reference:23 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:67 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
1angioedema10.3
2neuronitis10.3
3amyotrophic lateral sclerosis 179.7CHMP2B, SLC11A2
4dementia, familial, nonspecific9.5CHMP2B, 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 babinski sign HP:0003487
2 neuronal loss in central nervous system HP:0002529
3 astrocytosis HP:0002446
4 dyscalculia HP:0002442
5 loss of speech HP:0002371
6 memory impairment HP:0002354
7 orofacial dyskinesia HP:0002310
8 mutism HP:0002300
9 frontotemporal dementia HP:0002145
10 cerebral cortical atrophy HP:0002120
11 rigidity HP:0002063
12 hyperreflexia HP:0001347
13 myoclonus HP:0001336
14 dystonia HP:0001332
15 gait disturbance HP:0001288
16 lack of insight HP:0000757
17 personality changes HP:0000751
18 frontal release signs HP:0000743
19 apathy HP:0000741
20 disinhibition HP:0000734
21 stereotypic behavior HP:0000733
22 aggressive behavior HP:0000718
23 restlessness HP:0000711
24 hyperorality HP:0000710
25 urinary incontinence HP:0000020

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-Linked22 CHMP2B

Anatomical Context for Dementia, Familial, Nonspecific

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

33
Brain

Animal Models for Dementia, Familial, Nonspecific or affiliated genes

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MGI Mouse Phenotypes related to Dementia, Familial, Nonspecific:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

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:

67
id Symbol AA change Variation ID SNP ID
1CHMP2Bp.Asp148TyrVAR_023383

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:00319029.1CHMP2B, SLC11A2

Sources for Dementia, Familial, Nonspecific

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet