FTD3
MCID: DMN016
MIFTS: 23

Dementia, Familial, Nonspecific (FTD3) malady

Categories: Genetic diseases, Mental diseases

Aliases & Classifications for Dementia, Familial, Nonspecific

Aliases & Descriptions for Dementia, Familial, Nonspecific:

Name: Dementia, Familial, Nonspecific 54 13
Frontotemporal Dementia, Chromosome 3-Linked 23 24 66 69
Ftd-3 23 24 25
Ftd3 24 25 66
Chromosome 3-Linked Frontotemporal Dementia 25 29
Chmp2b-Related Frontotemporal Dementia 24 25
Ftd-Chmp2b 25
Dtm1 25

Characteristics:

GeneReviews:

23
dementia, familial, nonspecific:
Inheritance autosomal dominant inheritance


GeneReviews:

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

Classifications:



External Ids:

OMIM 54 600795
MedGen 40 C1833296

Summaries for Dementia, Familial, Nonspecific

OMIM : 54 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 myoclonus, dystonia and personality changes. 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 : 66 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: NBK1199

Related Diseases for Dementia, Familial, Nonspecific

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

id Related Disease Score Top Affiliating Genes
1 dementia 10.1

Symptoms & Phenotypes for Dementia, Familial, Nonspecific

Symptoms by clinical synopsis from OMIM:

600795

Clinical features from OMIM:

600795

Human phenotypes related to Dementia, Familial, Nonspecific:

32 (show all 25)
id Description HPO Frequency HPO Source Accession
1 myoclonus 32 HP:0001336
2 dystonia 32 HP:0001332
3 personality changes 32 HP:0000751
4 restlessness 32 HP:0000711
5 gait disturbance 32 HP:0001288
6 hyperreflexia 32 HP:0001347
7 stereotypy 32 HP:0000733
8 babinski sign 32 HP:0003487
9 cerebral cortical atrophy 32 HP:0002120
10 memory impairment 32 HP:0002354
11 rigidity 32 HP:0002063
12 aggressive behavior 32 HP:0000718
13 astrocytosis 32 HP:0002446
14 apathy 32 HP:0000741
15 disinhibition 32 HP:0000734
16 neuronal loss in central nervous system 32 HP:0002529
17 loss of speech 32 HP:0002371
18 dyscalculia 32 HP:0002442
19 orofacial dyskinesia 32 HP:0002310
20 urinary incontinence 32 HP:0000020
21 mutism 32 HP:0002300
22 hyperorality 32 HP:0000710
23 lack of insight 32 HP:0000757
24 frontotemporal dementia 32 HP:0002145
25 frontal release signs 32 HP:0000743

UMLS symptoms related to Dementia, Familial, Nonspecific:


muscle rigidity, myoclonus, abnormal pyramidal signs, personality changes, memory loss, restlessness

Drugs & Therapeutics for Dementia, Familial, Nonspecific

Interventional clinical trials:


id Name Status NCT ID Phase
1 Reducing Agitation in People With Dementia: the Customized Activity Trial Active, not recruiting NCT01892579 Phase 3

Search NIH Clinical Center for Dementia, Familial, Nonspecific

Genetic Tests for Dementia, Familial, Nonspecific

Genetic tests related to Dementia, Familial, Nonspecific:

id Genetic test Affiliating Genes
1 Frontotemporal Dementia, Chromosome 3-Linked 29 24 CHMP2B

Anatomical Context for Dementia, Familial, Nonspecific

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

39
Brain

Publications for Dementia, Familial, Nonspecific

Variations for Dementia, Familial, Nonspecific

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

66
id Symbol AA change Variation ID SNP ID
1 CHMP2B p.Asp148Tyr VAR_023383 rs63750653

ClinVar genetic disease variations for Dementia, Familial, Nonspecific:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CHMP2B CHMP2B, IVS5AS, G-C single nucleotide variant Pathogenic
2 CHMP2B NM_014043.3(CHMP2B): c.442G> T (p.Asp148Tyr) single nucleotide variant Pathogenic rs63750653 GRCh37 Chromosome 3, 87302571: 87302571
3 CHMP2B NM_014043.3(CHMP2B): c.618A> C (p.Gln206His) single nucleotide variant Pathogenic rs63751126 GRCh37 Chromosome 3, 87302948: 87302948
4 CHMP2B NM_014043.3(CHMP2B): c.493C> T (p.Gln165Ter) single nucleotide variant Pathogenic rs63750355 GRCh37 Chromosome 3, 87302622: 87302622
5 CHMP2B NM_014043.3(CHMP2B): c.532-1G> A single nucleotide variant Pathogenic rs63750652 GRCh38 Chromosome 3, 87253711: 87253711
6 CHMP2B NM_014043.3(CHMP2B): c.556C> T (p.Arg186Ter) single nucleotide variant Pathogenic rs63751048 GRCh37 Chromosome 3, 87302886: 87302886

Expression for Dementia, Familial, Nonspecific

Search GEO for disease gene expression data for Dementia, Familial, Nonspecific.

Pathways for Dementia, Familial, Nonspecific

GO Terms for Dementia, Familial, Nonspecific

Sources for Dementia, Familial, Nonspecific

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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