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FTD3
MCID: FRN013
MIFTS: 51

Frontotemporal Dementia, Chromosome 3-Linked (FTD3)

Categories: Genetic diseases, Mental diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Frontotemporal Dementia, Chromosome 3-Linked

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MalaCards integrated aliases for Frontotemporal Dementia, Chromosome 3-Linked:

Name: Frontotemporal Dementia, Chromosome 3-Linked 56 24 73 29 6 71
Ftd3 56 12 73
Chromosome 3-Linked Frontotemporal Dementia 12 15
Dementia, Familial, Nonspecific 56 13
Dementia, Frontotemporal, Chromosome 3-Linked 39
Dementia, Familial Nonspecific 56
Dmt1; Dem 56
Ftd-3 24
Dmt1 56
Dem 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
average age of onset 57 years
average duration of illness 8 years
subtle personality and behavioral changes are presenting signs
motor symptoms develop later (about 5 years into illness)


HPO:

31
frontotemporal dementia, chromosome 3-linked:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance appears to be nearly complete in the danish family.

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Mental diseases Neuronal diseases
See all MalaCards categories (disease lists)


Sources

Summaries for Frontotemporal Dementia, Chromosome 3-Linked

About this section
OMIM : 56 A substantial minority of degenerative dementias, perhaps 10%, lack the distinctive pathologic features that allow subclassification as Alzheimer disease (see 104300) or other forms of dementia. In perhaps half of these cases of nonspecific dementia, there is a positive family history of dementia, with an apparent autosomal dominant mode of inheritance. See also frontotemporal lobe dementia (FLDEM; 600274), which maps to chromosome 17 and is caused by mutation in the microtubule-associated protein tau gene (MAPT; 157140). (600795)

MalaCards based summary : Frontotemporal Dementia, Chromosome 3-Linked, also known as ftd3, is related to dementia and frontotemporal dementia, and has symptoms including myoclonus, restlessness and personality changes. An important gene associated with Frontotemporal Dementia, Chromosome 3-Linked is CHMP2B (Charged Multivesicular Body Protein 2B), and among its related pathways/superpathways are HIV Life Cycle and Vesicle-mediated transport. The drugs Iron and Orange have been mentioned in the context of this disorder. Affiliated tissues include brain, parietal lobe and eye, and related phenotypes are stereotypy and gait disturbance

Disease Ontology : 12 A frontotemporal dementia that has material basis in heterozygous mutation in CHMP2B on 3p11.2.

UniProtKB/Swiss-Prot : 73 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
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Related Diseases for Frontotemporal Dementia, Chromosome 3-Linked

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Diseases related to Frontotemporal Dementia, Chromosome 3-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 141)
# Related Disease Score Top Affiliating Genes
1 dementia 29.3 VCP TARDBP MAPT GRN FUS CHMP2B
2 frontotemporal dementia 29.2 VCP TARDBP POU1F1 MAPT GRN FUS
3 motor neuron disease 28.9 VCP TARDBP MAPT GRN FUS
4 chmp2b-related frontotemporal dementia 11.7
5 iron metabolism disease 10.7
6 hemosiderosis 10.6
7 rare hereditary hemochromatosis 10.6
8 microcytic anemia 10.5
9 hemochromatosis, type 1 10.5
10 deficiency anemia 10.5
11 hypochromic microcytic anemia 10.5
12 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.3
13 pituitary hormone deficiency, combined, 1 10.3 POU1F1 CHMP2B
14 anemia, hypochromic microcytic, with iron overload 1 10.3
15 iron deficiency anemia 10.3
16 amyotrophic lateral sclerosis 17 10.3
17 pustulosis of palm and sole 10.3
18 psoriasis 10.3
19 amyotrophic lateral sclerosis 18 10.2 FUS CHMP2B
20 cerebral atrophy 10.2
21 neurodegenerative disease with dementia 10.2
22 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.2 MAPT GRN
23 visual agnosia 10.2 MAPT GRN
24 alexia 10.1 MAPT GRN
25 hepatocellular carcinoma 10.1
26 osteoporosis 10.1
27 bone mineral density quantitative trait locus 8 10.1
28 bone mineral density quantitative trait locus 15 10.1
29 helix syndrome 10.1
30 neuroblastoma 10.1
31 hypochromic microcytic anemia with iron overload 10.1
32 splenomegaly 10.1
33 amyotrophic lateral sclerosis 12 10.1 TARDBP FUS CHMP2B
34 akinetic mutism 10.1 TARDBP MAPT
35 amyotrophic lateral sclerosis 11 10.1 TARDBP FUS CHMP2B
36 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 10.1 TARDBP FUS CHMP2B
37 amyotrophic lateral sclerosis type 6 10.1 TARDBP FUS CHMP2B
38 postencephalitic parkinson disease 10.1 TARDBP MAPT
39 corticobasal degeneration 10.0 TARDBP MAPT
40 echolalia 10.0 MAPT GRN
41 arteriolosclerosis 10.0 TARDBP MAPT
42 greig cephalopolysyndactyly syndrome 10.0
43 mycosis fungoides 10.0
44 aging 10.0
45 autoimmune lymphoproliferative syndrome 10.0
46 gastrointestinal stromal tumor 10.0
47 pulmonary disease, chronic obstructive 10.0
48 cholangiocarcinoma 10.0
49 zollinger-ellison syndrome 10.0
50 balanoposthitis 10.0

Graphical network of the top 20 diseases related to Frontotemporal Dementia, Chromosome 3-Linked:



Diseases related to Frontotemporal Dementia, Chromosome 3-Linked
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Symptoms & Phenotypes for Frontotemporal Dementia, Chromosome 3-Linked

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Human phenotypes related to Frontotemporal Dementia, Chromosome 3-Linked:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 stereotypy 31 HP:0000733
2 gait disturbance 31 HP:0001288
3 myoclonus 31 HP:0001336
4 hyperreflexia 31 HP:0001347
5 memory impairment 31 HP:0002354
6 cerebral cortical atrophy 31 HP:0002120
7 dystonia 31 HP:0001332
8 babinski sign 31 HP:0003487
9 restlessness 31 HP:0000711
10 rigidity 31 HP:0002063
11 aggressive behavior 31 HP:0000718
12 disinhibition 31 HP:0000734
13 hyperorality 31 HP:0000710
14 apathy 31 HP:0000741
15 loss of speech 31 HP:0002371
16 urinary incontinence 31 HP:0000020
17 personality changes 31 HP:0000751
18 mutism 31 HP:0002300
19 orofacial dyskinesia 31 HP:0002310
20 neuronal loss in central nervous system 31 HP:0002529
21 dyscalculia 31 HP:0002442
22 astrocytosis 31 HP:0002446
23 frontotemporal dementia 31 HP:0002145
24 inappropriate behavior 31 HP:0000719
25 lack of insight 31 HP:0000757
26 frontal release signs 31 HP:0000743

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
myoclonus
hyperreflexia
dystonia
rigidity
loss of speech
more
Genitourinary Bladder:
urinary incontinence

Neurologic Behavioral Psychiatric Manifestations:
restlessness
disinhibition
hyperorality
apathy
personality changes
more

Clinical features from OMIM:

600795

UMLS symptoms related to Frontotemporal Dementia, Chromosome 3-Linked:


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

MGI Mouse Phenotypes related to Frontotemporal Dementia, Chromosome 3-Linked:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.32 CHMP2B CHMP3 CHMP5 CHMP6 GRN MAPT
Sources

Drugs & Therapeutics for Frontotemporal Dementia, Chromosome 3-Linked

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Drugs for Frontotemporal Dementia, Chromosome 3-Linked (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved, Experimental Phase 3 15438-31-0, 7439-89-6 27284 23925
2 Orange Approved Phase 3
3 Hibiscus Phase 3
4 Iron Supplement Phase 3
5 Gotu Kola Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prevalence of Genetic Polymorphisms of DMT1 and Ferroportin Enzymes in Adults With Anemia by Iron Deficiency, and Its Influence on the Efficacy of Conventional and Herbal Treatments Completed NCT01414374 Phase 3 Herbal medicine;Iron
2 Phase I Study: PET Imaging of Cyclooxygenases in Dementia Recruiting NCT04396873 Phase 1 11C-MC1;11C-PS13
3 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
4 Evaluation of the Impact of Bariatric Surgery by Sleeve Gastrectomy on Iron Intestinal Absorption in Morbidly Obese Patients Completed NCT01483768
5 Tracking Outcomes in Psychosis Recruiting NCT02882204
6 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 Active, not recruiting NCT02055092
7 Characterizing Diurnal Glucose Patterns of Individuals With Type 1 Diabetes and Eating Disorders Terminated NCT01390636

Search NIH Clinical Center for Frontotemporal Dementia, Chromosome 3-Linked

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Genetic Tests for Frontotemporal Dementia, Chromosome 3-Linked

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Genetic tests related to Frontotemporal Dementia, Chromosome 3-Linked:

# Genetic test Affiliating Genes
1 Frontotemporal Dementia, Chromosome 3-Linked 29 CHMP2B
Sources

Anatomical Context for Frontotemporal Dementia, Chromosome 3-Linked

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MalaCards organs/tissues related to Frontotemporal Dementia, Chromosome 3-Linked:

40
Brain, Parietal Lobe, Eye
Sources

Publications for Frontotemporal Dementia, Chromosome 3-Linked

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Articles related to Frontotemporal Dementia, Chromosome 3-Linked:

(show all 50)
# Title Authors PMID Year
1
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. 61 6 56 24
16041373 2005
2
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro. 56 24 6
17956895 2008
3
CHMP2B mutations are not a common cause of frontotemporal lobar degeneration. 56 24 6
16431024 2006
4
Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations. 24 56
20223751 2010
5
Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). 6 24
20352044 2010
6
Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update. 24 56
19924424 2010
7
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B). 24 6
16807408 2006
8
Genetic variability in CHMP2B and frontotemporal dementia. 24 56
16954699 2006
9
Chromosome 3 linked frontotemporal dementia (FTD-3). 56 24
12451202 2002
10
Familial non-specific dementia maps to chromosome 3. 24 56
8541850 1995
11
Neuropsychiatric studies in a family with presenile dementia different from Alzheimer and Pick disease. 24 56
3673655 1987
12
ESCRT-III dysfunction causes autophagosome accumulation and neurodegeneration. 24 61
17683935 2007
13
CHMP2B Frontotemporal Dementia 6
20301378 2007
14
CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia. 61 24
16941655 2006
15
A familial case of Alzheimer's disease without tau pathology may be linked with chromosome 3 markers. 56
10480352 1999
16
Chromosome 3-linked frontotemporal dementia. 56
9791535 1998
17
Familial dementia of adult onset with pathological findings of a 'non-specific' nature. 56
7470845 1981
18
Reversal of pathology in CHMP2B-mediated frontotemporal dementia patient cells using RNA interference. 24
22786763 2012
19
Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice. 24
22366797 2012
20
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. 24
21944779 2011
21
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. 24
21944778 2011
22
Frontotemporal dementia caused by CHMP2B mutations. 24
21222599 2011
23
CHMP2B mutations are rare in French families with frontotemporal lobar degeneration. 24
20625756 2010
24
Absence of FUS-immunoreactive pathology in frontotemporal dementia linked to chromosome 3 (FTD-3) caused by mutation in the CHMP2B gene. 24
19844732 2009
25
CHMP2B mutations are not a common cause of familial or sporadic amyotrophic lateral sclerosis. 24
18270236 2008
26
Frontotemporal dementia linked to chromosome 3 (FTD-3)--current concepts and the detection of a previously unknown branch of the Danish FTD-3 family. 24
18484988 2008
27
Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease. 24
17984323 2007
28
A reassessment of the neuropathology of frontotemporal dementia linked to chromosome 3. 24
17917582 2007
29
Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration. 24
17579875 2007
30
Clinicopathologic features of frontotemporal dementia with progranulin sequence variation. 24
17202431 2007
31
Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations. 24
17278999 2007
32
Neuropathologic heterogeneity in HDDD1: a familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation. 24
17334266 2007
33
Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families. 24
17210807 2007
34
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. 24
17095158 2006
35
Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome. 24
17030534 2006
36
HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin. 24
16983685 2006
37
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. 24
16862116 2006
38
Frontotemporal dementia linked to chromosome 3. 24
15178935 2004
39
A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L) 24
10219785 1999
40
Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Conference Participants. 24
9189031 1997
41
Defective neuronal and oligodendroglial differentiation by FTD3- and ALS17-associated Ile29-to-Val mutation of CHMP2B. 61
30766798 2019
42
Patient iPSC-Derived Neurons for Disease Modeling of Frontotemporal Dementia with Mutation in CHMP2B. 61
28216144 2017
43
A transgenic mouse expressing CHMP2Bintron5 mutant in neurons develops histological and behavioural features of amyotrophic lateral sclerosis and frontotemporal dementia. 61
27329763 2016
44
Generation of a human induced pluripotent stem cell line via CRISPR-Cas9 mediated integration of a site-specific heterozygous mutation in CHMP2B. 61
27558613 2016
45
Generation of a human induced pluripotent stem cell line via CRISPR-Cas9 mediated integration of a site-specific homozygous mutation in CHMP2B. 61
27558614 2016
46
Expression of mutant CHMP2B, an ESCRT-III component involved in frontotemporal dementia, causes eye deformities due to Notch misregulation in Drosophila. 61
24158394 2014
47
Autophagy defects contribute to neurodegeneration induced by dysfunctional ESCRT-III. 61
19738424 2009
48
Genetic screen identifies serpin5 as a regulator of the toll pathway and CHMP2B toxicity associated with frontotemporal dementia. 61
19581577 2009
49
ESCRT, autophagy, and frontotemporal dementia. 61
19123971 2008
50
Roles of ESCRT in autophagy-associated neurodegeneration. 61
18094607 2008
Sources

Variations for Frontotemporal Dementia, Chromosome 3-Linked

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ClinVar genetic disease variations for Frontotemporal Dementia, Chromosome 3-Linked:

6 (show top 50) (show all 58) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CHMP2B CHMP2B, IVS5AS, G-CSNV Pathogenic 1652
2 CHMP2B NM_014043.4(CHMP2B):c.442G>T (p.Asp148Tyr)SNV Pathogenic 1653 rs63750653 3:87302571-87302571 3:87253421-87253421
3 CHMP2B NM_014043.4(CHMP2B):c.618A>C (p.Gln206His)SNV Pathogenic 1654 rs63751126 3:87302948-87302948 3:87253798-87253798
4 CHMP2B NM_014043.4(CHMP2B):c.493C>T (p.Gln165Ter)SNV Pathogenic 1655 rs63750355 3:87302622-87302622 3:87253472-87253472
5 CHMP2B NM_014043.4(CHMP2B):c.532-1G>ASNV Pathogenic 21505 rs63750652 3:87302861-87302861 3:87253711-87253711
6 CHMP2B NM_014043.4(CHMP2B):c.556C>T (p.Arg186Ter)SNV Pathogenic 21506 rs63751048 3:87302886-87302886 3:87253736-87253736
7 CHMP2B NM_014043.4(CHMP2B):c.311C>A (p.Thr104Asn)SNV Conflicting interpretations of pathogenicity 35472 rs281864934 3:87295048-87295048 3:87245898-87245898
8 CHMP2B NM_014043.4(CHMP2B):c.218C>T (p.Thr73Met)SNV Conflicting interpretations of pathogenicity 346806 rs192188850 3:87294955-87294955 3:87245805-87245805
9 CHMP2B NM_014043.4(CHMP2B):c.*1422G>ASNV Uncertain significance 346823 rs572323799 3:87304394-87304394 3:87255244-87255244
10 CHMP2B NM_014043.4(CHMP2B):c.-38C>TSNV Uncertain significance 346803 rs886058905 3:87276635-87276635 3:87227485-87227485
11 CHMP2B NM_014043.4(CHMP2B):c.*602T>GSNV Uncertain significance 346812 rs886058908 3:87303574-87303574 3:87254424-87254424
12 CHMP2B NM_014043.4(CHMP2B):c.-205C>TSNV Uncertain significance 346800 rs556556377 3:87276468-87276468 3:87227318-87227318
13 CHMP2B NM_014043.4(CHMP2B):c.*968G>ASNV Uncertain significance 346817 rs886058910 3:87303940-87303940 3:87254790-87254790
14 CHMP2B NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val)SNV Uncertain significance 21507 rs63750818 3:87289899-87289899 3:87240749-87240749
15 CHMP2B NM_014043.4(CHMP2B):c.*901T>CSNV Uncertain significance 900412 3:87303873-87303873 3:87254723-87254723
16 CHMP2B NM_014043.4(CHMP2B):c.*1080C>TSNV Uncertain significance 900413 3:87304052-87304052 3:87254902-87254902
17 CHMP2B NM_014043.4(CHMP2B):c.*1647A>GSNV Uncertain significance 903027 3:87304619-87304619 3:87255469-87255469
18 CHMP2B NM_014043.4(CHMP2B):c.531+8C>TSNV Uncertain significance 902967 3:87302668-87302668 3:87253518-87253518
19 CHMP2B NM_014043.4(CHMP2B):c.581C>T (p.Ser194Leu)SNV Uncertain significance 581214 rs149380040 3:87302911-87302911 3:87253761-87253761
20 CHMP2B NM_014043.4(CHMP2B):c.268A>G (p.Lys90Glu)SNV Uncertain significance 858063 3:87295005-87295005 3:87245855-87245855
21 CHMP2B NM_014043.4(CHMP2B):c.-144C>TSNV Uncertain significance 901454 3:87276529-87276529 3:87227379-87227379
22 CHMP2B NM_014043.4(CHMP2B):c.-34G>ASNV Uncertain significance 901455 3:87276639-87276639 3:87227489-87227489
23 CHMP2B NM_014043.4(CHMP2B):c.202C>T (p.Leu68=)SNV Uncertain significance 902089 3:87294939-87294939 3:87245789-87245789
24 CHMP2B NM_014043.4(CHMP2B):c.*121G>ASNV Uncertain significance 902968 3:87303093-87303093 3:87253943-87253943
25 CHMP2B NM_014043.4(CHMP2B):c.*626A>GSNV Uncertain significance 902969 3:87303598-87303598 3:87254448-87254448
26 CHMP2B NM_014043.4(CHMP2B):c.*718C>TSNV Uncertain significance 900410 3:87303690-87303690 3:87254540-87254540
27 CHMP2B NM_014043.4(CHMP2B):c.*1414T>CSNV Uncertain significance 900480 3:87304386-87304386 3:87255236-87255236
28 CHMP2B NM_014043.4(CHMP2B):c.*1421C>TSNV Uncertain significance 900481 3:87304393-87304393 3:87255243-87255243
29 CHMP2B NM_014043.4(CHMP2B):c.*1482T>ASNV Uncertain significance 902145 3:87304454-87304454 3:87255304-87255304
30 CHMP2B NM_014043.4(CHMP2B):c.*1516C>TSNV Uncertain significance 902146 3:87304488-87304488 3:87255338-87255338
31 CHMP2B NM_014043.4(CHMP2B):c.56G>A (p.Arg19Gln)SNV Likely benign 902088 3:87289870-87289870 3:87240720-87240720
32 CHMP2B NM_014043.4(CHMP2B):c.64C>T (p.Arg22Ter)SNV Likely benign 704339 3:87289878-87289878 3:87240728-87240728
33 CHMP2B NM_014043.4(CHMP2B):c.111A>G (p.Lys37=)SNV Likely benign 786504 3:87289925-87289925 3:87240775-87240775
34 CHMP2B NM_014043.4(CHMP2B):c.163A>C (p.Lys55Gln)SNV Likely benign 712214 3:87294900-87294900 3:87245750-87245750
35 CHMP2B , POU1F1 NM_014043.4(CHMP2B):c.*1589G>ASNV Benign/Likely benign 346826 rs1060241 3:87304561-87304561 3:87255411-87255411
36 CHMP2B NM_014043.4(CHMP2B):c.549A>G (p.Ser183=)SNV Benign/Likely benign 346808 rs143178463 3:87302879-87302879 3:87253729-87253729
37 CHMP2B NM_014043.4(CHMP2B):c.*1503G>CSNV Benign/Likely benign 346824 rs1060238 3:87304475-87304475 3:87255325-87255325
38 CHMP2B NM_014043.4(CHMP2B):c.*1190G>TSNV Benign/Likely benign 346820 rs115892684 3:87304162-87304162 3:87255012-87255012
39 CHMP2B NM_014043.4(CHMP2B):c.*1376G>CSNV Benign 346821 rs191203869 3:87304348-87304348 3:87255198-87255198
40 CHMP2B NM_014043.4(CHMP2B):c.-151C>ASNV Benign 346801 rs77328592 3:87276522-87276522 3:87227372-87227372
41 CHMP2B NM_014043.4(CHMP2B):c.34+8C>TSNV Benign 346804 rs35413339 3:87276714-87276714 3:87227564-87227564
42 CHMP2B NM_014043.4(CHMP2B):c.364T>C (p.Leu122=)SNV Benign 346807 rs189313287 3:87299067-87299067 3:87249917-87249917
43 CHMP2B NM_014043.4(CHMP2B):c.*1408A>GSNV Benign 346822 rs183429826 3:87304380-87304380 3:87255230-87255230
44 CHMP2B NM_014043.4(CHMP2B):c.*1588C>TSNV Benign 346825 rs11426 3:87304560-87304560 3:87255410-87255410
45 CHMP2B NM_014043.4(CHMP2B):c.*231T>CSNV Benign 346811 rs17189270 3:87303203-87303203 3:87254053-87254053
46 CHMP2B NM_014043.4(CHMP2B):c.*836T>CSNV Benign 346813 rs189927047 3:87303808-87303808 3:87254658-87254658
47 CHMP2B NM_014043.4(CHMP2B):c.*864G>ASNV Benign 346814 rs181777395 3:87303836-87303836 3:87254686-87254686
48 CHMP2B NM_014043.4(CHMP2B):c.35-7C>TSNV Benign 704275 3:87289842-87289842 3:87240692-87240692
49 CHMP2B NM_014043.4(CHMP2B):c.*1610C>TSNV Benign 903026 3:87304582-87304582 3:87255432-87255432
50 CHMP2B NM_014043.4(CHMP2B):c.*744C>ASNV Benign 900411 3:87303716-87303716 3:87254566-87254566

UniProtKB/Swiss-Prot genetic disease variations for Frontotemporal Dementia, Chromosome 3-Linked:

73
# Symbol AA change Variation ID SNP ID
1 CHMP2B p.Asp148Tyr VAR_023383 rs63750653

Sources

Expression for Frontotemporal Dementia, Chromosome 3-Linked

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Search GEO for disease gene expression data for Frontotemporal Dementia, Chromosome 3-Linked.
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Pathways for Frontotemporal Dementia, Chromosome 3-Linked

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Pathways related to Frontotemporal Dementia, Chromosome 3-Linked according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
HIV Life Cycle 65
Show member pathways
 13.32 VPS28 VCP CHMP6 CHMP5 CHMP3 CHMP2B
2
Vesicle-mediated transport 65
Show member pathways
 12.96 VPS28 VPS25 RAB7B CHMP6 CHMP5 CHMP3
3
Cellular Senescence (REACTOME) 65
Show member pathways
 12.71 VCP CHMP6 CHMP3 CHMP2B CHMP2A
4
Endocytosis 36
11.89 VPS28 VPS25 CHMP6 CHMP5 CHMP3 CHMP2B
5
Necroptosis 36
Show member pathways
 11.78 CHMP6 CHMP5 CHMP3 CHMP2B CHMP2A
6
Macroautophagy 65
Show member pathways
 11.62 CHMP6 CHMP3 CHMP2B CHMP2A
7
Budding and maturation of HIV virion 65
Show member pathways
 11.04 VPS28 VPS25 CHMP6 CHMP5 CHMP3 CHMP2B
Sources

GO Terms for Frontotemporal Dementia, Chromosome 3-Linked

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Cellular components related to Frontotemporal Dementia, Chromosome 3-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.97 VPS28 VPS25 VCP GRN CHMP6 CHMP5
2 cell GO:0005623 9.91 MAPT GRN CHMP6 CHMP5 CHMP3 CHMP2B
3 endosome membrane GO:0010008 9.73 VPS28 VPS25 CHMP6 CHMP5
4 late endosome membrane GO:0031902 9.73 VPS28 RAB7B CHMP6 CHMP3 CHMP2B CHMP2A
5 late endosome GO:0005770 9.71 RAB7B GRN CHMP3 CHMP2B
6 ESCRT III complex GO:0000815 9.46 CHMP6 CHMP3 CHMP2B CHMP2A
7 multivesicular body GO:0005771 9.35 CHMP6 CHMP5 CHMP3 CHMP2B CHMP2A
8 endosome GO:0005768 9.28 VPS28 VPS25 RAB7B GRN CHMP6 CHMP5

Biological processes related to Frontotemporal Dementia, Chromosome 3-Linked according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 10.11 VPS28 VPS25 RAB7B CHMP6 CHMP5 CHMP3
2 mitotic metaphase plate congression GO:0007080 9.85 CHMP6 CHMP5 CHMP3 CHMP2B CHMP2A
3 regulation of mitotic spindle assembly GO:1901673 9.83 CHMP5 CHMP3 CHMP2B CHMP2A
4 nucleus organization GO:0006997 9.83 CHMP6 CHMP5 CHMP3 CHMP2B CHMP2A
5 regulation of centrosome duplication GO:0010824 9.8 CHMP5 CHMP3 CHMP2B CHMP2A
6 viral budding via host ESCRT complex GO:0039702 9.8 VPS28 CHMP6 CHMP3 CHMP2B CHMP2A
7 macroautophagy GO:0016236 9.8 VPS28 VPS25 VCP CHMP6 CHMP3 CHMP2B
8 endosome transport via multivesicular body sorting pathway GO:0032509 9.78 VPS28 CHMP3 CHMP2B CHMP2A
9 vacuolar transport GO:0007034 9.77 CHMP6 CHMP5 CHMP3 CHMP2B CHMP2A
10 protein polymerization GO:0051258 9.75 MAPT CHMP3 CHMP2A
11 multivesicular body sorting pathway GO:0071985 9.74 VPS25 CHMP5 CHMP3
12 ESCRT III complex disassembly GO:1904903 9.73 CHMP5 CHMP2B CHMP2A
13 positive regulation of viral release from host cell GO:1902188 9.72 CHMP3 CHMP2B CHMP2A
14 midbody abscission GO:0061952 9.72 CHMP6 CHMP5 CHMP3 CHMP2B CHMP2A
15 late endosome to vacuole transport GO:0045324 9.71 CHMP3 CHMP2B CHMP2A
16 endosomal transport GO:0016197 9.7 VPS28 VPS25 CHMP6 CHMP5 CHMP3 CHMP2B
17 autophagosome maturation GO:0097352 9.63 VCP CHMP3
18 gene expression GO:0010467 9.63 TARDBP FUS
19 vesicle budding from membrane GO:0006900 9.62 CHMP6 CHMP5
20 negative regulation of epidermal growth factor-activated receptor activity GO:0007175 9.62 VPS25 CHMP6
21 late endosome to vacuole transport via multivesicular body sorting pathway GO:0032511 9.61 CHMP6 CHMP5
22 regulation of viral process GO:0050792 9.61 CHMP3 CHMP2A
23 protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway GO:0043328 9.6 VPS28 VPS25
24 regulation of exosomal secretion GO:1903541 9.59 CHMP6 CHMP3
25 multivesicular body-lysosome fusion GO:0061763 9.58 CHMP3 CHMP2B
26 viral life cycle GO:0019058 9.43 VPS28 CHMP6 CHMP5 CHMP3 CHMP2B CHMP2A
27 multivesicular body assembly GO:0036258 9.17 VPS28 VPS25 CHMP6 CHMP5 CHMP3 CHMP2B

Molecular functions related to Frontotemporal Dementia, Chromosome 3-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylcholine binding GO:0031210 8.96 CHMP3 CHMP2A
2 ubiquitin-specific protease binding GO:1990381 8.62 VCP CHMP3
Sources

Sources for Frontotemporal Dementia, Chromosome 3-Linked

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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