FTD-3
MCID: CHM008
MIFTS: 12

Chmp2b Frontotemporal Dementia (FTD-3)

Categories: Mental diseases

Aliases & Classifications for Chmp2b Frontotemporal Dementia

MalaCards integrated aliases for Chmp2b Frontotemporal Dementia:

Name: Chmp2b Frontotemporal Dementia 25
Chromosome 3-Linked Frontotemporal Dementia 25
Chmp2b-Ftd 25
Ftd-3 25

Characteristics:

GeneReviews:

25
Penetrance Penetrance is age dependent and appears to be nearly complete in the danish family.

Classifications:



Summaries for Chmp2b Frontotemporal Dementia

MalaCards based summary : Chmp2b Frontotemporal Dementia, also known as chromosome 3-linked frontotemporal dementia, is related to frontotemporal dementia and/or amyotrophic lateral sclerosis 7 and frontotemporal dementia. An important gene associated with Chmp2b Frontotemporal Dementia is CHMP2B (Charged Multivesicular Body Protein 2B).

GeneReviews: NBK1199

Related Diseases for Chmp2b Frontotemporal Dementia

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

# Related Disease Score Top Affiliating Genes
1 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 11.7
2 frontotemporal dementia 10.2
3 dyscalculia 10.2
4 mutism 10.2
5 dystonia 10.2
6 dementia 10.1
7 cerebral atrophy 10.1
8 motor neuron disease 9.9
9 neurodegenerative disease with dementia 9.9

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



Diseases related to Chmp2b Frontotemporal Dementia

Symptoms & Phenotypes for Chmp2b Frontotemporal Dementia

Drugs & Therapeutics for Chmp2b Frontotemporal Dementia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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

Search NIH Clinical Center for Chmp2b Frontotemporal Dementia

Genetic Tests for Chmp2b Frontotemporal Dementia

Anatomical Context for Chmp2b Frontotemporal Dementia

Publications for Chmp2b Frontotemporal Dementia

Articles related to Chmp2b Frontotemporal Dementia:

(show all 45)
# Title Authors PMID Year
1
Cognitive impairment in the preclinical stage of dementia in FTD-3 CHMP2B mutation carriers: a longitudinal prospective study. 25 61
23142962 2013
2
Presymptomatic cerebral blood flow changes in CHMP2B mutation carriers of familial frontotemporal dementia (FTD-3), measured with MRI. 25 61
22422914 2012
3
Frontotemporal dementia caused by CHMP2B mutations. 61 25
21222599 2011
4
Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations. 25 61
20223751 2010
5
Absence of FUS-immunoreactive pathology in frontotemporal dementia linked to chromosome 3 (FTD-3) caused by mutation in the CHMP2B gene. 25 61
19844732 2009
6
Frontotemporal dementia linked to chromosome 3 (FTD-3)--current concepts and the detection of a previously unknown branch of the Danish FTD-3 family. 25 61
18484988 2008
7
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro. 25 61
17956895 2008
8
A reassessment of the neuropathology of frontotemporal dementia linked to chromosome 3. 61 25
17917582 2007
9
Chromosome 3 linked frontotemporal dementia (FTD-3). 61 25
12451202 2002
10
Targeted next-generation sequencing reveals novel and rare variants in Indian patients with amyotrophic lateral sclerosis. 25
29895397 2018
11
Genetics of dementia in a Finnish cohort. 25
29476165 2018
12
Molecular neuropathology of frontotemporal dementia: insights into disease mechanisms from postmortem studies. 25
27306735 2016
13
Timing, rates and spectra of human germline mutation. 25
26656846 2016
14
Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology. 25
26358247 2015
15
Reversal of pathology in CHMP2B-mediated frontotemporal dementia patient cells using RNA interference. 25
22786763 2012
16
Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice. 25
22366797 2012
17
Genetic overlap between apparently sporadic motor neuron diseases. 25
23155438 2012
18
CHMP2B mutations are rare in French families with frontotemporal lobar degeneration. 25
20625756 2010
19
Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). 25
20352044 2010
20
Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update. 25
19924424 2010
21
Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease. 25
17984323 2007
22
ESCRT-III dysfunction causes autophagosome accumulation and neurodegeneration. 25
17683935 2007
23
Sequence analysis of all identified open reading frames on the frontal temporal dementia haplotype on chromosome 3 fails to identify unique coding variants except in CHMP2B. 25
17095158 2006
24
CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia. 25
16941655 2006
25
CHMP2B mutations are not a common cause of frontotemporal lobar degeneration. 25
16431024 2006
26
Genetic variability in CHMP2B and frontotemporal dementia. 25
16954699 2006
27
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. 25
16041373 2005
28
Frontotemporal dementia linked to chromosome 3. 25
15178935 2004
29
Familial non-specific dementia maps to chromosome 3. 25
8541850 1995
30
Neuropsychiatric studies in a family with presenile dementia different from Alzheimer and Pick disease. 25
3673655 1987
31
Serum Neurofilament Light in Patients with Frontotemporal Dementia Caused by CHMP2B Mutation. 61
33626531 2021
32
Inflammatory markers of CHMP2B-mediated frontotemporal dementia. 61
30193769 2018
33
Molecular Genetics of Frontotemporal Dementia Elucidated by Drosophila Models-Defects in Endosomal⁻Lysosomal Pathway. 61
29890743 2018
34
Clinical exome sequencing in dementias: a preliminary study. 61
29930232 2018
35
CSF neurofilament light concentration is increased in presymptomatic CHMP2B mutation carriers. 61
29237796 2018
36
TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3). 61
28888721 2017
37
The role of CHMP2BIntron5 in autophagy and frontotemporal dementia. 61
26972529 2016
38
TMEM106B, a frontotemporal lobar dementia (FTLD) modifier, associates with FTD-3-linked CHMP2B, a complex of ESCRT-III. 61
26651479 2015
39
Usefulness of biomarkers in the diagnosis and prognosis of early-onset cognitive impairment. 61
24577466 2014
40
Epidemiological survey of frontotemporal lobar degeneration in tottori prefecture, Japan. 61
23300493 2012
41
The use of profanity during letter fluency tasks in frontotemporal dementia and Alzheimer disease. 61
20829665 2010
42
Cortical volumes and atrophy rates in FTD-3 CHMP2B mutation carriers and related non-carriers. 61
19150504 2009
43
CHMP2B Frontotemporal Dementia 61
20301378 2007
44
Prevalence of dementia subtypes in El Prat de Llobregat, Catalonia, Spain: the PRATICON study. 61
17878737 2007
45
Tau protein in frontotemporal dementia linked to chromosome 3 (FTD-3). 61
14503643 2003

Variations for Chmp2b Frontotemporal Dementia

Expression for Chmp2b Frontotemporal Dementia

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

Pathways for Chmp2b Frontotemporal Dementia

GO Terms for Chmp2b Frontotemporal Dementia

Sources for Chmp2b Frontotemporal Dementia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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