MCID: DMN016
MIFTS: 23

Dementia, Familial, Nonspecific malady

Categories: Genetic diseases (common), Mental diseases

Aliases & Classifications for Dementia, Familial, Nonspecific

About this section

Aliases & Descriptions for Dementia, Familial, Nonspecific:

Name: Dementia, Familial, Nonspecific 51 12
Frontotemporal Dementia, Chromosome 3-Linked 23 24 69 67
Ftd-3 23 24 25
Ftd3 24 25 69
 
Chromosome 3-Linked Frontotemporal Dementia 25 26
Chmp2b-Related Frontotemporal Dementia 24 25
Ftd-Chmp2b 25
Dtm1 25

Characteristics:

HPO:

63
dementia, familial, nonspecific:
Inheritance: autosomal dominant inheritance

GeneReviews:

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


Classifications:



External Ids:

OMIM51 600795
MedGen36 C1833296

Summaries for Dementia, Familial, Nonspecific

About this section
OMIM:51 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 urinary incontinence, hyperorality and restlessness. 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:69 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

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1dementia10.1

Symptoms for Dementia, Familial, Nonspecific

About this section

Symptoms by clinical synopsis from OMIM:

600795

Clinical features from OMIM:

600795

Human phenotypes related to Dementia, Familial, Nonspecific:

 63 (show all 25)
id Description HPO Frequency HPO Source Accession
1 urinary incontinence63 HP:0000020
2 hyperorality63 HP:0000710
3 restlessness63 HP:0000711
4 aggressive behavior63 HP:0000718
5 stereotypy63 HP:0000733
6 disinhibition63 HP:0000734
7 apathy63 HP:0000741
8 frontal release signs63 HP:0000743
9 personality changes63 HP:0000751
10 lack of insight63 HP:0000757
11 gait disturbance63 HP:0001288
12 dystonia63 HP:0001332
13 myoclonus63 HP:0001336
14 hyperreflexia63 HP:0001347
15 rigidity63 HP:0002063
16 cerebral cortical atrophy63 HP:0002120
17 frontotemporal dementia63 HP:0002145
18 mutism63 HP:0002300
19 orofacial dyskinesia63 HP:0002310
20 memory impairment63 HP:0002354
21 loss of speech63 HP:0002371
22 dyscalculia63 HP:0002442
23 astrocytosis63 HP:0002446
24 neuronal loss in central nervous system63 HP:0002529
25 babinski sign63 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

About this section

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

About this section

Genetic tests related to Dementia, Familial, Nonspecific:

id Genetic test Affiliating Genes
1 Frontotemporal Dementia, Chromosome 3-Linked26 24 CHMP2B

Anatomical Context for Dementia, Familial, Nonspecific

About this section

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

35
Brain

Animal Models for Dementia, Familial, Nonspecific or affiliated genes

About this section

Publications for Dementia, Familial, Nonspecific

About this section

Variations for Dementia, Familial, Nonspecific

About this section

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

69
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-CSNVPathogenicChr na, -1: -1
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
7CHMP2BNM_014043.3(CHMP2B): c.85A> G (p.Ile29Val)SNVPathogenicrs63750818GRCh37Chr 3, 87289899: 87289899
8CHMP2BNM_014043.3(CHMP2B): c.311C> A (p.Thr104Asn)SNVPathogenicrs281864934GRCh37Chr 3, 87295048: 87295048

Expression for genes affiliated with Dementia, Familial, Nonspecific

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

Pathways for genes affiliated with Dementia, Familial, Nonspecific

About this section

GO Terms for genes affiliated with Dementia, Familial, Nonspecific

About this section

Sources for Dementia, Familial, Nonspecific

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet