DTM1
MCID: CHM002
MIFTS: 19

Chmp2b-Related Frontotemporal Dementia (DTM1)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Chmp2b-Related Frontotemporal Dementia

MalaCards integrated aliases for Chmp2b-Related Frontotemporal Dementia:

Name: Chmp2b-Related Frontotemporal Dementia 25
Frontotemporal Dementia, Chromosome 3-Linked 71
Chromosome 3-Linked Frontotemporal Dementia 25
Ftd-Chmp2b 25
Ftd-3 25
Ftd3 25
Dtm1 25

Classifications:



External Ids:

UMLS 71 C1833296

Summaries for Chmp2b-Related Frontotemporal Dementia

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. CHMP2B Changes in personality and behavior are the most common early signs of CHMP2B-related frontotemporal dementia. These changes include inappropriate emotional responses, restlessness, loss of initiative, and neglect of personal hygiene. Affected individuals may overeat sweet foods or place non-food items into their mouths (hyperorality). Additionally, it may become difficult for affected individuals to interact with others in a socially appropriate manner. They increasingly require help with personal care and other activities of daily living. CHMP2B Many people with CHMP2B-related frontotemporal dementia develop progressive problems with speech and language (aphasia). They may have trouble speaking, although they can often understand others' speech and written text. Affected individuals may also have difficulty using numbers (dyscalculia). In the later stages of the disease, many completely lose the ability to communicate. CHMP2B Several years after signs and symptoms first appear, some people with CHMP2B-related frontotemporal dementia develop problems with movement. These movement abnormalities include rigidity, tremors, uncontrolled muscle tensing (dystonia), and involuntary muscle spasms (myoclonus). As the disease progresses, most affected individuals become unable to walk. CHMP2B

MalaCards based summary : Chmp2b-Related Frontotemporal Dementia, also known as frontotemporal dementia, chromosome 3-linked, is related to frontotemporal dementia, chromosome 3-linked and frontotemporal dementia, and has symptoms including myoclonus, restlessness and personality changes. Affiliated tissues include brain.

Related Diseases for Chmp2b-Related Frontotemporal Dementia

Diseases in the Frontotemporal Dementia family:

Grn-Related Frontotemporal Dementia Chmp2b-Related Frontotemporal Dementia

Diseases related to Chmp2b-Related Frontotemporal Dementia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 frontotemporal dementia, chromosome 3-linked 12.2
2 frontotemporal dementia 10.4
3 dementia 10.4
4 amyotrophic lateral sclerosis 17 10.3
5 motor neuron disease 10.2
6 cerebral atrophy 10.2
7 neurodegenerative disease with dementia 10.2

Graphical network of the top 20 diseases related to Chmp2b-Related Frontotemporal Dementia:



Diseases related to Chmp2b-Related Frontotemporal Dementia

Symptoms & Phenotypes for Chmp2b-Related Frontotemporal Dementia

UMLS symptoms related to Chmp2b-Related Frontotemporal Dementia:


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

Drugs & Therapeutics for Chmp2b-Related Frontotemporal Dementia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Nordic Multicentre Observational Study of Persons With Young Onset Dementia and Their Families - Factors Influencing Quality of Life, Theirs Specific Needs and the Use of Healthcare Resources Unknown status NCT02055092
2 Phase 0 Evaluation of Clinical and Neuroimage (18F-PM-PBB3 PET) Study in Tauopathy Including Alzheimer's Disease, Other Dementias and Normal Controls Completed NCT03625128 Early Phase 1 F-18
3 Tracking Outcomes in Psychosis Recruiting NCT02882204

Search NIH Clinical Center for Chmp2b-Related Frontotemporal Dementia

Genetic Tests for Chmp2b-Related Frontotemporal Dementia

Anatomical Context for Chmp2b-Related Frontotemporal Dementia

MalaCards organs/tissues related to Chmp2b-Related Frontotemporal Dementia:

40
Brain

Publications for Chmp2b-Related Frontotemporal Dementia

Articles related to Chmp2b-Related Frontotemporal Dementia:

(show all 22)
# Title Authors PMID Year
1
Inflammatory markers of CHMP2B-mediated frontotemporal dementia. 61
30193769 2018
2
Clinical exome sequencing in dementias: a preliminary study. 61
29930232 2018
3
Molecular Genetics of Frontotemporal Dementia Elucidated by Drosophila Models-Defects in Endosomal⁻Lysosomal Pathway. 61
29890743 2018
4
CSF neurofilament light concentration is increased in presymptomatic CHMP2B mutation carriers. 61
29237796 2018
5
TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3). 61
28888721 2017
6
The role of CHMP2BIntron5 in autophagy and frontotemporal dementia. 61
26972529 2016
7
TMEM106B, a frontotemporal lobar dementia (FTLD) modifier, associates with FTD-3-linked CHMP2B, a complex of ESCRT-III. 61
26651479 2015
8
Usefulness of biomarkers in the diagnosis and prognosis of early-onset cognitive impairment. 61
24577466 2014
9
Cognitive impairment in the preclinical stage of dementia in FTD-3 CHMP2B mutation carriers: a longitudinal prospective study. 61
23142962 2013
10
Epidemiological survey of frontotemporal lobar degeneration in tottori prefecture, Japan. 61
23300493 2012
11
Presymptomatic cerebral blood flow changes in CHMP2B mutation carriers of familial frontotemporal dementia (FTD-3), measured with MRI. 61
22422914 2012
12
Frontotemporal dementia caused by CHMP2B mutations. 61
21222599 2011
13
The use of profanity during letter fluency tasks in frontotemporal dementia and Alzheimer disease. 61
20829665 2010
14
Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations. 61
20223751 2010
15
Absence of FUS-immunoreactive pathology in frontotemporal dementia linked to chromosome 3 (FTD-3) caused by mutation in the CHMP2B gene. 61
19844732 2009
16
Cortical volumes and atrophy rates in FTD-3 CHMP2B mutation carriers and related non-carriers. 61
19150504 2009
17
Frontotemporal dementia linked to chromosome 3 (FTD-3)--current concepts and the detection of a previously unknown branch of the Danish FTD-3 family. 61
18484988 2008
18
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro. 61
17956895 2008
19
A reassessment of the neuropathology of frontotemporal dementia linked to chromosome 3. 61
17917582 2007
20
Prevalence of dementia subtypes in El Prat de Llobregat, Catalonia, Spain: the PRATICON study. 61
17878737 2007
21
Tau protein in frontotemporal dementia linked to chromosome 3 (FTD-3). 61
14503643 2003
22
Chromosome 3 linked frontotemporal dementia (FTD-3). 61
12451202 2002

Variations for Chmp2b-Related Frontotemporal Dementia

Expression for Chmp2b-Related Frontotemporal Dementia

Search GEO for disease gene expression data for Chmp2b-Related Frontotemporal Dementia.

Pathways for Chmp2b-Related Frontotemporal Dementia

GO Terms for Chmp2b-Related Frontotemporal Dementia

Sources for Chmp2b-Related Frontotemporal Dementia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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