FTD3
MCID: DMN016
MIFTS: 23

Dementia, Familial, Nonspecific (FTD3) 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 52 12
Frontotemporal Dementia, Chromosome 3-Linked 23 24 70 68
Ftd-3 23 24 25
Ftd3 24 25 70
 
Chromosome 3-Linked Frontotemporal Dementia 25 27
Chmp2b-Related Frontotemporal Dementia 24 25
Ftd-Chmp2b 25
Dtm1 25

Characteristics:

HPO:

64
dementia, familial, nonspecific:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
Penetrance: penetrance appears to be nearly complete in the danish family...


Classifications:



External Ids:

OMIM52 600795
MedGen37 C1833296

Summaries for Dementia, Familial, Nonspecific

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OMIM:52 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 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:25 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:70 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 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
1dementia10.1

Symptoms & Phenotypes for Dementia, Familial, Nonspecific

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Symptoms by clinical synopsis from OMIM:

600795

Clinical features from OMIM:

600795

Human phenotypes related to Dementia, Familial, Nonspecific:

 64 (show all 25)
id Description HPO Frequency HPO Source Accession
1 urinary incontinence64 HP:0000020
2 hyperorality64 HP:0000710
3 restlessness64 HP:0000711
4 aggressive behavior64 HP:0000718
5 stereotypy64 HP:0000733
6 disinhibition64 HP:0000734
7 apathy64 HP:0000741
8 frontal release signs64 HP:0000743
9 personality changes64 HP:0000751
10 lack of insight64 HP:0000757
11 gait disturbance64 HP:0001288
12 dystonia64 HP:0001332
13 myoclonus64 HP:0001336
14 hyperreflexia64 HP:0001347
15 rigidity64 HP:0002063
16 cerebral cortical atrophy64 HP:0002120
17 frontotemporal dementia64 HP:0002145
18 mutism64 HP:0002300
19 orofacial dyskinesia64 HP:0002310
20 memory impairment64 HP:0002354
21 loss of speech64 HP:0002371
22 dyscalculia64 HP:0002442
23 astrocytosis64 HP:0002446
24 neuronal loss in central nervous system64 HP:0002529
25 babinski sign64 HP:0003487

UMLS symptoms related to Dementia, Familial, Nonspecific:


muscle rigidity, myoclonus, abnormal pyramidal signs, personality changes, 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 TrialActive, not recruitingNCT01892579Phase 3

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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-Linked27 24 CHMP2B

Anatomical Context for Dementia, Familial, Nonspecific

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

36
Brain

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:

70
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-CSNVPathogenic
2CHMP2BNM_ 014043.3(CHMP2B): c.442G> T (p.Asp148Tyr)SNVPathogenicrs63750653GRCh37Chr 3, 87302571: 87302571
3CHMP2BNM_ 014043.3(CHMP2B): c.618A> C (p.Gln206His)SNVPathogenicrs63751126GRCh37Chr 3, 87302948: 87302948
4CHMP2BNM_ 014043.3(CHMP2B): c.493C> T (p.Gln165Ter)SNVPathogenicrs63750355GRCh37Chr 3, 87302622: 87302622
5CHMP2BNM_ 014043.3(CHMP2B): c.532-1G> ASNVPathogenicrs63750652GRCh38Chr 3, 87253711: 87253711
6CHMP2BNM_ 014043.3(CHMP2B): c.556C> T (p.Arg186Ter)SNVPathogenicrs63751048GRCh37Chr 3, 87302886: 87302886

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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Sources for Dementia, Familial, Nonspecific

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet