FTDALS7
MCID: FRN059
MIFTS: 47

Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7 (FTDALS7)

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

Aliases & Classifications for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7

MalaCards integrated aliases for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7:

Name: Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7 57
Frontotemporal Dementia, Chromosome 3-Linked 57 73 29 6
Ftd3 57 12 43 73
Chromosome 3-Linked Frontotemporal Dementia 12 43 15
Amyotrophic Lateral Sclerosis 17 73 29 6
Chmp2b-Related Frontotemporal Dementia 12 43
Frontotemporal Dementia and/or Amytrophic Lateral Sclerosis 7 57
Amyotrophic Lateral Sclerosis 17, Formerly; Als17, Formerly 57
Frontotemporal Dementia, Chromosome 3-Linked; Ftd3 57
Amyotrophic Lateral Sclerosis, Chmp2b-Related 57
Dementia, Frontotemporal, Chromosome 3-Linked 39
Amyotrophic Lateral Sclerosis Chmp2b-Related 73
Amyotrophic Lateral Sclerosis 17, Formerly 57
Sclerosis, Lateral, Amyotrophic, Type 17 39
Amyotrophic Lateral Sclerosis Type 17 12
Als17, Formerly 57
Ftd-Chmp2b 43
Ftdals7 57
Ftd-3 43
Als17 73
Dtm1 43

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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 and/or amyotrophic lateral sclerosis 7:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7

MedlinePlus Genetics : 43 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.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.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.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.

MalaCards based summary : Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7, also known as frontotemporal dementia, chromosome 3-linked, is related to dementia and frontotemporal dementia, and has symptoms including muscle weakness, myoclonus and restlessness. An important gene associated with Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7 is CHMP2B (Charged Multivesicular Body Protein 2B), and among its related pathways/superpathways are HIV Life Cycle and Vesicle-mediated transport. Affiliated tissues include eye, and related phenotypes are hyperreflexia and gait disturbance

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

OMIM® : 57 Frontotemporal dementia and/or amyotrophic lateral sclerosis-7 (FTDALS7) is an autosomal dominant neurodegenerative disorder characterized by onset of ALS or FTD in adulthood. Some patients have ALS, manifest as muscle weakness and wasting of the upper and lower limbs, bulbar signs, and respiratory insufficiency, whereas others have FTD, manifest as behavioral and personality changes, memory loss, cognitive decline, and disinhibition. A few patients may have both phenotypes. Pathology typically shows UBB (191339), p62/sequestosome (SQSTM1; 601530), and TDP43 (605078)-immunoreactive intraneuronal inclusions (summary by Brown et al., 1995 and Cox et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of FTDALS, see FTDALS1 (105550). (600795) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Amyotrophic lateral sclerosis 17: An adult-onset progressive neurodegenerative disorder with predominantly lower motor neuron involvement, manifest as muscle weakness and wasting of the upper and lower limbs, bulbar signs, and respiratory insufficiency.
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.

Related Diseases for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7

Diseases in the Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 family:

Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 6
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 5

Diseases related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 dementia 29.6 VCP TARDBP MAPT GRN FUS CHMP2B
2 frontotemporal dementia 29.3 VCP TARDBP MAPT GRN FUS CHMP4B
3 motor neuron disease 29.2 VCP TARDBP MAPT GRN FUS CHMP2B
4 chmp2b frontotemporal dementia 11.4
5 amyotrophic lateral sclerosis type 22 10.2 TARDBP FUS
6 amyotrophic lateral sclerosis 18 10.2 FUS CHMP2B
7 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia 10.2 VCP FUS
8 locked-in syndrome 10.2 TARDBP FUS
9 gerstmann syndrome 10.2 MAPT GRN
10 cerebral atrophy 10.1
11 corticobasal degeneration 10.1 TARDBP MAPT
12 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.1 MAPT GRN
13 visual agnosia 10.1 MAPT GRN
14 amyotrophic lateral sclerosis 11 10.1 TARDBP FUS CHMP2B
15 simultanagnosia 10.1 TARDBP MAPT
16 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 10.1 TARDBP FUS CHMP2B
17 amyotrophic lateral sclerosis type 14 10.1 VCP FUS CHMP2B
18 amyotrophic lateral sclerosis type 12 10.1 TARDBP FUS CHMP2B
19 amyotrophic lateral sclerosis 16, juvenile 10.1 VCP FUS CHMP2B
20 akinetic mutism 10.1 TARDBP MAPT
21 postencephalitic parkinson disease 10.1 TARDBP MAPT
22 giant axonal neuropathy 2 10.1 TARDBP FUS
23 spinal muscular atrophy, distal, autosomal recessive, 4 10.1 TARDBP FUS
24 amyotrophic lateral sclerosis 8 10.1 VCP TARDBP FUS
25 arteriolosclerosis 10.1 TARDBP MAPT
26 multisystem proteinopathy 10.1 VCP TARDBP FUS
27 epilepsy, idiopathic generalized 2 10.1 TARDBP MAPT
28 amyotrophic lateral sclerosis 4, juvenile 10.0 TARDBP FUS
29 echolalia 10.0 MAPT GRN
30 pica disease 10.0 TARDBP MAPT FUS
31 cataract 32, multiple types 10.0 CHMP4B CHMP4A
32 disuse amblyopia 10.0 CHMP4B CHMP4A
33 early-onset, autosomal dominant alzheimer disease 10.0 VCP MAPT GRN
34 lateral sclerosis 10.0 VCP TARDBP FUS CHMP2B
35 cataract 11, multiple types 10.0 CHMP4B CHMP4A
36 progressive muscular atrophy 10.0 VCP TARDBP FUS CHMP2B
37 cataract 6, multiple types 10.0 CHMP4B CHMP4A
38 amyotrophic lateral sclerosis type 6 10.0 VCP TARDBP FUS CHMP2B
39 inclusion body myositis 10.0 VCP TARDBP MAPT
40 inclusion body myopathy with paget disease of bone and frontotemporal dementia 9.9 VCP TARDBP FUS CHMP2B
41 cataract 31, multiple types 9.9 CHMP4B CHMP4A
42 cataract 16, multiple types 9.9 CHMP4B CHMP4A
43 semantic dementia 9.9 TARDBP MAPT GRN CHMP2B
44 prosopagnosia 9.9 TARDBP MAPT GRN CHMP2B
45 mutism 9.9 TARDBP MAPT GRN CHMP2B
46 neurodegenerative disease with dementia 9.9
47 ideomotor apraxia 9.9 TARDBP MAPT GRN FUS
48 progressive non-fluent aphasia 9.9 VCP MAPT GRN CHMP2B
49 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 9.9 TARDBP MAPT
50 dermatopathia pigmentosa reticularis 9.9 TARDBP FUS

Graphical network of the top 20 diseases related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7:



Diseases related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7

Symptoms & Phenotypes for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7

Human phenotypes related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 31 HP:0001347
2 gait disturbance 31 HP:0001288
3 stereotypy 31 HP:0000733
4 myoclonus 31 HP:0001336
5 cerebral cortical atrophy 31 HP:0002120
6 dystonia 31 HP:0001332
7 memory impairment 31 HP:0002354
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®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
hyperreflexia
myoclonus
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 (Updated 05-Mar-2021)

UMLS symptoms related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7:


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

Drugs & Therapeutics for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7

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 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7

Genetic Tests for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7

Genetic tests related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7:

# Genetic test Affiliating Genes
1 Frontotemporal Dementia, Chromosome 3-Linked 29 CHMP2B
2 Amyotrophic Lateral Sclerosis 17 29

Anatomical Context for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7

MalaCards organs/tissues related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7:

40
Eye

Publications for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7

Articles related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7:

(show all 27)
# Title Authors PMID Year
1
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. 61 6 57
16041373 2005
2
Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). 57 6
20352044 2010
3
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro. 57 6
17956895 2008
4
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B). 6 57
16807408 2006
5
CHMP2B mutations are not a common cause of frontotemporal lobar degeneration. 57 6
16431024 2006
6
Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations. 57
20223751 2010
7
Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update. 57
19924424 2010
8
Genetic variability in CHMP2B and frontotemporal dementia. 57
16954699 2006
9
Chromosome 3 linked frontotemporal dementia (FTD-3). 57
12451202 2002
10
Chromosome 3-linked frontotemporal dementia. 57
9791535 1998
11
Familial non-specific dementia maps to chromosome 3. 57
8541850 1995
12
Neuropsychiatric studies in a family with presenile dementia different from Alzheimer and Pick disease. 57
3673655 1987
13
Familial dementia of adult onset with pathological findings of a 'non-specific' nature. 57
7470845 1981
14
Glutamate-glutamine homeostasis is perturbed in neurons and astrocytes derived from patient iPSC models of frontotemporal dementia. 61
32928252 2020
15
Ik2/TBK1 and Hook/Dynein, an adaptor complex for early endosome transport, are genetic modifiers of FTD-associated mutant CHMP2B toxicity in Drosophila. 61
32848189 2020
16
Defective neuronal and oligodendroglial differentiation by FTD3- and ALS17-associated Ile29-to-Val mutation of CHMP2B. 61
30766798 2019
17
Patient iPSC-Derived Neurons for Disease Modeling of Frontotemporal Dementia with Mutation in CHMP2B. 61
28216144 2017
18
A transgenic mouse expressing CHMP2Bintron5 mutant in neurons develops histological and behavioural features of amyotrophic lateral sclerosis and frontotemporal dementia. 61
27329763 2016
19
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
20
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
21
Expression of mutant CHMP2B, an ESCRT-III component involved in frontotemporal dementia, causes eye deformities due to Notch misregulation in Drosophila. 61
24158394 2014
22
Autophagy defects contribute to neurodegeneration induced by dysfunctional ESCRT-III. 61
19738424 2009
23
Genetic screen identifies serpin5 as a regulator of the toll pathway and CHMP2B toxicity associated with frontotemporal dementia. 61
19581577 2009
24
ESCRT, autophagy, and frontotemporal dementia. 61
19123971 2008
25
Roles of ESCRT in autophagy-associated neurodegeneration. 61
18094607 2008
26
ESCRT-III dysfunction causes autophagosome accumulation and neurodegeneration. 61
17683935 2007
27
CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia. 61
16941655 2006

Variations for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7

ClinVar genetic disease variations for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7:

6 (show top 50) (show all 68)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CHMP2B CHMP2B, IVS5AS, G-C SNV 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.493C>T (p.Gln165Ter) SNV Pathogenic 1655 rs63750355 3:87302622-87302622 3:87253472-87253472
4 CHMP2B NM_014043.4(CHMP2B):c.532-1G>A SNV Pathogenic 21505 rs63750652 3:87302861-87302861 3:87253711-87253711
5 CHMP2B NM_014043.4(CHMP2B):c.556C>T (p.Arg186Ter) SNV Pathogenic 21506 rs63751048 3:87302886-87302886 3:87253736-87253736
6 CHMP2B NM_014043.4(CHMP2B):c.618A>C (p.Gln206His) SNV Pathogenic 1654 rs63751126 3:87302948-87302948 3:87253798-87253798
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.*602T>G SNV Uncertain significance 346812 rs886058908 3:87303574-87303574 3:87254424-87254424
9 CHMP2B NM_014043.4(CHMP2B):c.-205C>T SNV Uncertain significance 346800 rs556556377 3:87276468-87276468 3:87227318-87227318
10 CHMP2B NM_014043.4(CHMP2B):c.-38C>T SNV Uncertain significance 346803 rs886058905 3:87276635-87276635 3:87227485-87227485
11 CHMP2B NM_014043.4(CHMP2B):c.*968G>A SNV Uncertain significance 346817 rs886058910 3:87303940-87303940 3:87254790-87254790
12 CHMP2B NM_014043.4(CHMP2B):c.*1422G>A SNV Uncertain significance 346823 rs572323799 3:87304394-87304394 3:87255244-87255244
13 CHMP2B NM_014043.4(CHMP2B):c.581C>T (p.Ser194Leu) SNV Uncertain significance 581214 rs149380040 3:87302911-87302911 3:87253761-87253761
14 CHMP2B NM_014043.4(CHMP2B):c.218C>T (p.Thr73Met) SNV Uncertain significance 346806 rs192188850 3:87294955-87294955 3:87245805-87245805
15 CHMP2B NM_014043.4(CHMP2B):c.268A>G (p.Lys90Glu) SNV Uncertain significance 858063 3:87295005-87295005 3:87245855-87245855
16 CHMP2B NM_014043.4(CHMP2B):c.*718C>T SNV Uncertain significance 900410 3:87303690-87303690 3:87254540-87254540
17 CHMP2B NM_014043.4(CHMP2B):c.*901T>C SNV Uncertain significance 900412 3:87303873-87303873 3:87254723-87254723
18 CHMP2B NM_014043.4(CHMP2B):c.*1080C>T SNV Uncertain significance 900413 3:87304052-87304052 3:87254902-87254902
19 CHMP2B NM_014043.4(CHMP2B):c.*1414T>C SNV Uncertain significance 900480 3:87304386-87304386 3:87255236-87255236
20 CHMP2B NM_014043.4(CHMP2B):c.*1421C>T SNV Uncertain significance 900481 3:87304393-87304393 3:87255243-87255243
21 CHMP2B NM_014043.4(CHMP2B):c.-144C>T SNV Uncertain significance 901454 3:87276529-87276529 3:87227379-87227379
22 CHMP2B NM_014043.4(CHMP2B):c.-34G>A SNV 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.*1482T>A SNV Uncertain significance 902145 3:87304454-87304454 3:87255304-87255304
25 CHMP2B NM_014043.4(CHMP2B):c.*1516C>T SNV Uncertain significance 902146 3:87304488-87304488 3:87255338-87255338
26 CHMP2B NM_014043.4(CHMP2B):c.531+8C>T SNV Uncertain significance 902967 3:87302668-87302668 3:87253518-87253518
27 CHMP2B NM_014043.4(CHMP2B):c.*121G>A SNV Uncertain significance 902968 3:87303093-87303093 3:87253943-87253943
28 CHMP2B NM_014043.4(CHMP2B):c.*626A>G SNV Uncertain significance 902969 3:87303598-87303598 3:87254448-87254448
29 CHMP2B NM_014043.4(CHMP2B):c.*1647A>G SNV Uncertain significance 903027 3:87304619-87304619 3:87255469-87255469
30 CHMP2B NM_014043.4(CHMP2B):c.176A>G (p.Lys59Arg) SNV Uncertain significance 948982 3:87294913-87294913 3:87245763-87245763
31 CHMP2B NM_014043.4(CHMP2B):c.206G>A (p.Arg69Gln) SNV Uncertain significance 872081 3:87294943-87294943 3:87245793-87245793
32 CHMP2B NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val) SNV Uncertain significance 21507 rs63750818 3:87289899-87289899 3:87240749-87240749
33 CHMP2B NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val) SNV Uncertain significance 21507 rs63750818 3:87289899-87289899 3:87240749-87240749
34 CHMP2B NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val) SNV Uncertain significance 21507 rs63750818 3:87289899-87289899 3:87240749-87240749
35 CHMP2B NM_014043.4(CHMP2B):c.56G>A (p.Arg19Gln) SNV Likely benign 902088 3:87289870-87289870 3:87240720-87240720
36 CHMP2B NM_014043.4(CHMP2B):c.64C>T (p.Arg22Ter) SNV Likely benign 704339 rs138886714 3:87289878-87289878 3:87240728-87240728
37 CHMP2B NM_014043.4(CHMP2B):c.549A>G (p.Ser183=) SNV Likely benign 346808 rs143178463 3:87302879-87302879 3:87253729-87253729
38 CHMP2B NM_014043.4(CHMP2B):c.64C>T (p.Arg22Ter) SNV Likely benign 704339 rs138886714 3:87289878-87289878 3:87240728-87240728
39 CHMP2B NM_014043.4(CHMP2B):c.163A>C (p.Lys55Gln) SNV Likely benign 712214 rs188471297 3:87294900-87294900 3:87245750-87245750
40 CHMP2B NM_014043.4(CHMP2B):c.111A>G (p.Lys37=) SNV Likely benign 786504 rs376846232 3:87289925-87289925 3:87240775-87240775
41 CHMP2B NM_014043.4(CHMP2B):c.218C>T (p.Thr73Met) SNV Likely benign 346806 rs192188850 3:87294955-87294955 3:87245805-87245805
42 CHMP2B NM_014043.4(CHMP2B):c.372A>C (p.Thr124=) SNV Benign 98001 rs1044499 3:87299075-87299075 3:87249925-87249925
43 CHMP2B NM_014043.4(CHMP2B):c.34+8C>T SNV Benign 346804 rs35413339 3:87276714-87276714 3:87227564-87227564
44 CHMP2B NM_014043.4(CHMP2B):c.35-7C>T SNV Benign 704275 rs200912994 3:87289842-87289842 3:87240692-87240692
45 CHMP2B NM_014043.4(CHMP2B):c.-151C>A SNV Benign 346801 rs77328592 3:87276522-87276522 3:87227372-87227372
46 CHMP2B NM_014043.4(CHMP2B):c.27C>T (p.Thr9=) SNV Benign 97999 rs2279720 3:87276699-87276699 3:87227549-87227549
47 CHMP2B NM_014043.4(CHMP2B):c.192A>G (p.Gln64=) SNV Benign 346805 rs148750997 3:87294929-87294929 3:87245779-87245779
48 CHMP2B NM_014043.4(CHMP2B):c.*744C>A SNV Benign 900411 3:87303716-87303716 3:87254566-87254566
49 CHMP2B NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn) SNV Benign 260314 rs78268395 3:87302890-87302890 3:87253740-87253740
50 CHMP2B NM_014043.4(CHMP2B):c.*1071A>G SNV Benign 346819 rs544589377 3:87304043-87304043 3:87254893-87254893

UniProtKB/Swiss-Prot genetic disease variations for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7:

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

Expression for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7

Search GEO for disease gene expression data for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7.

Pathways for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7

GO Terms for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7

Cellular components related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.2 VPS28 VPS25 VCP TARDBP MAPT FUS
2 cytosol GO:0005829 10.13 VPS28 VPS25 VCP MAPT CHMP5 CHMP4B
3 extracellular exosome GO:0070062 9.97 VPS28 VPS25 VCP GRN CHMP5 CHMP4B
4 endosome GO:0005768 9.85 VPS28 VPS25 RAB7B GRN CHMP5 CHMP4B
5 late endosome membrane GO:0031902 9.8 VPS28 RAB7B CHMP4B CHMP4A CHMP3 CHMP2B
6 late endosome GO:0005770 9.71 RAB7B GRN CHMP3 CHMP2B
7 membrane coat GO:0030117 9.54 CHMP4B CHMP4A CHMP2A
8 multivesicular body GO:0005771 9.43 CHMP5 CHMP4B CHMP4A CHMP3 CHMP2B CHMP2A
9 ESCRT III complex GO:0000815 9.02 CHMP4B CHMP4A CHMP3 CHMP2B CHMP2A

Biological processes related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7 according to GeneCards Suite gene sharing:

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 10.18 VPS28 VPS25 RAB7B CHMP5 CHMP4B CHMP4A
2 mitotic metaphase plate congression GO:0007080 9.93 CHMP5 CHMP4B CHMP4A CHMP3 CHMP2B CHMP2A
3 regulation of mitotic spindle assembly GO:1901673 9.91 CHMP5 CHMP4B CHMP3 CHMP2B CHMP2A
4 nucleus organization GO:0006997 9.91 CHMP5 CHMP4B CHMP4A CHMP3 CHMP2B CHMP2A
5 regulation of centrosome duplication GO:0010824 9.89 CHMP5 CHMP4B CHMP3 CHMP2B CHMP2A
6 protein polymerization GO:0051258 9.88 MAPT CHMP4B CHMP4A CHMP3 CHMP2A
7 viral budding via host ESCRT complex GO:0039702 9.88 VPS28 CHMP4B CHMP4A CHMP3 CHMP2B CHMP2A
8 macroautophagy GO:0016236 9.86 VPS28 VPS25 VCP CHMP4B CHMP4A CHMP3
9 endosome transport via multivesicular body sorting pathway GO:0032509 9.85 VPS28 CHMP3 CHMP2B CHMP2A
10 vacuolar transport GO:0007034 9.85 CHMP5 CHMP4B CHMP4A CHMP3 CHMP2B CHMP2A
11 positive regulation of viral release from host cell GO:1902188 9.84 CHMP4B CHMP3 CHMP2B CHMP2A
12 autophagy GO:0006914 9.83 VCP CHMP4B CHMP2B
13 protein homooligomerization GO:0051260 9.82 MAPT FUS CHMP2A
14 midbody abscission GO:0061952 9.8 CHMP5 CHMP4B CHMP4A CHMP3 CHMP2B CHMP2A
15 vesicle budding from membrane GO:0006900 9.77 CHMP5 CHMP4B CHMP4A
16 multivesicular body sorting pathway GO:0071985 9.77 VPS25 CHMP5 CHMP3
17 late endosome to vacuole transport via multivesicular body sorting pathway GO:0032511 9.76 CHMP5 CHMP4B CHMP4A
18 endosomal transport GO:0016197 9.76 VPS28 VPS25 CHMP5 CHMP4B CHMP4A CHMP3
19 ESCRT III complex disassembly GO:1904903 9.75 CHMP5 CHMP2B CHMP2A
20 late endosome to vacuole transport GO:0045324 9.74 CHMP3 CHMP2B CHMP2A
21 regulation of viral process GO:0050792 9.73 CHMP4B CHMP3 CHMP2A
22 autophagosome maturation GO:0097352 9.65 VCP CHMP3
23 negative regulation of autophagosome assembly GO:1902902 9.65 CHMP4B CHMP4A
24 exit from mitosis GO:0010458 9.64 CHMP4B CHMP2A
25 viral budding GO:0046755 9.63 CHMP5 CHMP4B
26 nuclear envelope reassembly GO:0031468 9.63 CHMP4B CHMP2A
27 posttranslational protein targeting to endoplasmic reticulum membrane GO:0006620 9.62 CHMP4B CHMP4A
28 membrane invagination GO:0010324 9.62 CHMP4A CHMP2A
29 protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway GO:0043328 9.61 VPS28 VPS25
30 multivesicular body-lysosome fusion GO:0061763 9.61 CHMP3 CHMP2B
31 viral life cycle GO:0019058 9.5 VPS28 CHMP5 CHMP4B CHMP4A CHMP3 CHMP2B
32 multivesicular body assembly GO:0036258 9.23 VPS28 VPS25 CHMP5 CHMP4B CHMP4A CHMP3

Molecular functions related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10 VPS28 VPS25 VCP TARDBP RAB7B MAPT
2 phosphatidylcholine binding GO:0031210 9.26 CHMP3 CHMP2A
3 identical protein binding GO:0042802 9.17 VCP TARDBP MAPT FUS CHMP4B CHMP4A
4 ubiquitin-specific protease binding GO:1990381 8.96 VCP CHMP3

Sources for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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