FTD
MCID: FRN006
MIFTS: 72

Frontotemporal Dementia (FTD) malady

Summaries for Frontotemporal Dementia

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42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Frontotemporal dementia describes a group of conditions associated with shrinking of the frontal and temporal anterior lobes of the brain. symptoms include either variable changes in behavior (e.g., impulsive, bored, listless, lack of social contact, lack of empathy, distractibility, blunted emotions, compulsive behavior, decreased energy and motivation) or problems with language (e.g., difficulty making or understanding speech). spatial skills and memory remain intact. there is a strong genetic component to the disease; it often runs in families. there is no cure for frontotemporal dementia at this time, as a result treatment remains supportive.although the name and classification of ftd has been a topic of discussion for over a century, the current classification of the syndrome groups together pick’s disease, primary progressive aphasia, and semantic dementia as ftd. some doctors propose adding corticobasal degeneration and progressive supranuclear palsy to ftd and calling the group pick complex. you can click on the links to view the gard pages on these conditions. last updated: 8/22/2011

MalaCards: Frontotemporal Dementia, also known as dementia, frontotemporal, is related to dementia and alzheimer's disease. An important gene associated with Frontotemporal Dementia is PSEN1 (presenilin 1), and among its related pathways are Notch Pathway and Alzheimers Disease Pathway. The compounds thioflavine s and 4-hydroxynonenal have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and bone, and related mouse phenotypes are behavior/neurological and nervous system.

NINDS:43 Frontotemporal dementia (FTD) describes a clinical syndrome associated with shrinking of the frontal and temporal anterior lobes of the brain. Originally known as Pick?s disease, the name and classification of FTD has been a topic of discussion for over a century.

Wikipedia:63 Frontotemporal dementia (FTD) is a neurodegenerative disease characterized by progressive neuronal loss... more...

Description from OMIM:46 600274

Aliases & Classifications for Frontotemporal Dementia

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8Disease Ontology, 42NIH Rare Diseases, 43NINDS, 10DISEASES, 44Novoseek, 60UMLS, 9diseasecard, 22GTR, 46OMIM, 56SNOMED-CT
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Aliases & Descriptions:

frontotemporal dementia 8 42 43 10 44 60
dementia, frontotemporal 9 22 46
multiple system tauopathy with presenile dementia 8 60
frontotemporal lobar degeneration 8 60
pallidopontonigral degeneration 8 60
dementia, frontotemporal, with parkinsonism 42
frontotemporal dementia with parkinsonism 42
frontotemporal lobe dementia 42
wilhelmsen-lynch disease 8
mstd 42
ftd 42


External Ids:

Disease Ontology8 DOID:9255
SNOMED-CT56 42369001
OMIM46 600274

Related Diseases for Frontotemporal Dementia

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17GeneCards, 18GeneDecks
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Diseases in the Frontotemporal Dementia family:

Grn-Related Frontotemporal Dementia Tardbp-Related Frontotemporal Dementia
Chmp2b-Related Frontotemporal Dementia

Diseases related to Frontotemporal Dementia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 130)
idRelated DiseaseScoreTop Affiliating Genes
1dementia32.3VCP, TARDBP, MAPT, GRN, SNCA, STH
2alzheimer's disease31.5VCP, TARDBP, INA, MAPT, GRN, SNCA
3amyotrophic lateral sclerosis31.4GRN, CHMP2B, C9orf72, SNCA, CRYAB, PSEN1
4lateral sclerosis31.4SOD1, SNCA, MAPT
5motor neuron disease31.2VCP, TARDBP, INA, MAPT, GRN, SNCA
6inclusion body myopathy with early-onset paget disease and frontotemporal dementia31.1MPFD, VCP
7myopathy31.1RPS27A, CRYAB, VCP
8aphasia31.1FUS, TARDBP, MAPT, GRN, C9orf72
9pick's disease31.1PSEN1, MAPT
10progressive supranuclear palsy31.0MAPT, SNCA, APOE, RPS27A
11tauopathy30.8INA, MAPT, GRN, SNCA, STH, PSEN1
12schizophrenia30.8SNCA, PSEN1
13lewy body dementia30.7RPS27A, APOE, SNCA, MAPT
14brain disease30.6PSEN1, SNCA, MAPT
15paget's disease of bone30.5VCP
16vascular dementia30.4APOE
17parkinson's disease30.4RPS27A, SOD1, ISG15, APOE, VCP, MAPT
18myositis30.4RPS27A, PSEN1, SNCA, MAPT
19amyloidosis30.4RPS27A, APOE, PSEN1, PSEN2, SNCA, MAPT
20apraxia30.4GRN, MAPT
21inclusion body myositis30.4MAPT, RPS27A
22primary progressive aphasia30.3MAPT, GRN, RPS27A
23huntington's disease30.3MAPT, SNCA, PSEN2, PSEN1, SOD1, RPS27A
24semantic dementia30.1MAPT, GRN, RPS27A
25frontotemporal lobar degeneration with ubiquitin-positive inclusions30.1GRN
26prion disease30.1MAPT, PSEN2, PSEN1
27rem sleep behavior disorder30.1SNCA
28multiple sclerosis30.1APOE, CRYAB
29neuronitis10.9
30grn-related frontotemporal dementia10.7
31frontotemporal dementia with parkinsonism-1710.6
32amyotrophic lateral sclerosis with frontotemporal dementia10.6
33chmp2b-related frontotemporal dementia10.6
34cerebritis10.5
35frontotemporal dementia, chromosome 3-linked10.5
36inclusion body myopathy with paget disease of bone and/or frontotemporal dementia10.5
37bipolar disorder10.4
38chromosomal disease10.4
39frontotemporal lobar degeneration, tardbp-related10.4
40intracranial hypotension10.4
41frontotemporal dementia, ubiquitin-positive10.4
42inclusion body myopathy with early-onset paget disease and frontotemporal dementia 110.4
43amyotrophic lateral sclerosis 14, with or without frontotemporal dementia10.4
44pathological gambling10.3
45tardbp-related frontotemporal dementia10.3
46inclusion body myopathy wtih early-onset paget disease without frontotemporal dementia 310.3
47prosopagnosia10.3
48neurologic diseases10.3
49adult polyglucosan body disease10.3
50progressive non-fluent aphasia10.3

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



Diseases related to frontotemporal dementia

Clinical Features for Frontotemporal Dementia

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46OMIM
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Clinical features from OMIM:

600274

Clinical synopsis from OMIM:

600274

Drugs & Therapeutics for Frontotemporal Dementia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Frontotemporal Dementia

Drug clinical trials:

Search ClinicalTrials for Frontotemporal Dementia

Search NIH Clinical Center for Frontotemporal Dementia

Search CenterWatch for Frontotemporal Dementia

Genetic Tests for Frontotemporal Dementia

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22GTR
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Genetic tests related to Frontotemporal Dementia:

id Genetic test Affiliating Genes
1 Frontotemporal Dementia22

Anatomical Context for Frontotemporal Dementia

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32MalaCards
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MalaCards organs/tissues related to Frontotemporal Dementia:

32
Brain, Temporal lobe, Bone, Cortex, Testes, Eye, Prefrontal cortex, Monocytes, Hypothalamus

Animal Models for Frontotemporal Dementia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Frontotemporal Dementia:

36 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538610.6PSEN2, PSEN1, APOE, SOD1, CRYAB, SNCA
2MP:000363110.6FUS, SOD1, APOE, PSEN1, PSEN2, PIN1
3MP:000538710.6PSEN1, APOE, ISG15, SOD1, PSEN2, CRYAB
4MP:000538410.6PSEN2, PSEN1, APOE, SOD1, PIN1, SNCA
5MP:000539110.6SOD1, APOE, PSEN1, PSEN2, PIN1, CRYAB
6MP:000537810.5APOE, PSEN1, PSEN2, PIN1, CRYAB, SNCA
7MP:000539510.5APOE, PSEN1, PIN1, MAPT
8MP:001076810.5PSEN2, PSEN1, APOE, SOD1, CRYAB, SNCA
9MP:000537910.4FUS, PSEN2, PSEN1
10MP:000539710.4APOE, PSEN1, PSEN2, GRN, MAPT, VCP
11MP:000539010.3SOD1, ISG15, APOE, PSEN1, CRYAB, SNCA
12MP:001077110.1PSEN1, PSEN2, PIN1, MAPT, VCP

Publications for Frontotemporal Dementia

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50PubMed
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Articles related to Frontotemporal Dementia:

(show top 50)    (show all 819)
idTitleAuthorsYear
1
Suicidal behaviour in frontotemporal dementia patients-a retrospective study. (24408733)
2014
2
Qualitative results of a structured group program for carers of people with frontotemporal dementia. (23296839)
2013
3
Clinical utility of short social cognitive tests in early differentiation of behavioral variant frontotemporal dementia from Alzheimer's disease. (24403909)
2013
4
Frontotemporal dementia in southeast Asia: a comparative study. (23569453)
2013
5
Dissociation of frontotemporal dementia-related deficits and neuroinflammation in progranulin haploinsufficient mice. (23516300)
2013
6
GroupICA dual regression analysis of resting state networks in a behavioral variant of frontotemporal dementia. (23986673)
2013
7
c9RAN translation: a potential therapeutic target for the treatment of amyotrophic lateral sclerosis and frontotemporal dementia. (23844663)
2013
8
C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism. (22807188)
2012
9
Familial frontotemporal dementia and amyotrophic lateral sclerosis associated with the C9ORF72 hexanucleotide repeat. (22366789)
2012
10
Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p. (22344582)
2012
11
Novel TARDBP Sequence Variant and C9ORF72 Repeat Expansion in a Family With Frontotemporal Dementia. (22892647)
2012
12
Definite behavioral variant of frontotemporal dementia with C9ORF72 expansions despite positive Alzheimer's disease cerebrospinal fluid biomarkers. (22766732)
2012
13
The acoustic cortex in frontotemporal dementia: a Golgi and electron microscope study. (21189051)
2011
14
Cerebrospinal fluid tau, p-tau 181 and amyloid-I^38/40/42 in frontotemporal dementias and primary progressive aphasias. (21135556)
2011
15
Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosomeA 9p. (21072532)
2011
16
Amnesia in frontotemporal dementia with amyotrophic lateral sclerosis, masquerading Alzheimer's disease. (22125525)
2011
17
Recent insights into the involvement of progranulin in frontotemporal dementia. (22654721)
2011
18
Visual grasping in frontotemporal dementia and parkinsonism linked to chromosome 17 (microtubule-associated with protein tau): a comparison of N-Isopropyl-p-[(123)I]-iodoamphetamine brain perfusion single photon emission computed tomography analysis with progressive supranuclear palsy. (21462266)
2011
19
Eating disturbance in behavioural-variant frontotemporal dementia. (21584651)
2011
20
The most common type of FTLD-FUS (aFTLD-U) is associated with a distinct clinical form of frontotemporal dementia but is not related to mutations in the FUS gene. (21424531)
2011
21
False recognition in Lewy-body disease and frontotemporal dementia. (21094574)
2011
22
Pilot study of pharmacological treatment for frontotemporal dementia: effect of Yokukansan on behavioral symptoms. (20447015)
2010
23
Neurobehavioral differences between Alzheimer's disease and frontotemporal dementia: a meta-analysis. (20063255)
2010
24
Sortilin-mediated endocytosis determines levels of the frontotemporal dementia protein, progranulin. (21092856)
2010
25
Poor creativity in frontotemporal dementia: a window into the neural bases of the creative mind. (20868703)
2010
26
Survival profiles of patients with frontotemporal dementia and motor neuron disease. (19901167)
2009
27
TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea. (19609911)
2009
28
TDP-43 and frontotemporal dementia. (19664364)
2009
29
Two cases of frontotemporal dementia with predominant temporal lobe atrophy. (20377822)
2009
30
An Italian family with inclusion-body myopathy and frontotemporal dementia due to mutation in the VCP gene. (17763460)
2008
31
Atypical frontotemporal dementia as a new clinical phenotype of Gerstmann-Straussler-Scheinker disease with the PrP-P102L mutation. Description of a previously unreported Italian family. (19030774)
2008
32
Rates of brain atrophy over time in autopsy-proven frontotemporal dementia and Alzheimer disease. (17988893)
2008
33
Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation. (17318302)
2007
34
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia. (17345602)
2007
35
TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without Progranulin mutations. (17360763)
2007
36
Ubiquitin-positive frontotemporal lobar degeneration presenting with progressive Gogi (word-meaning) aphasia. A neuropsychological, radiological and pathological evaluation of a Japanese semantic dementia patient. (17045299)
2006
37
Late-onset frontotemporal dementia associated with progressive supranuclear palsy/argyrophilic grain disease/Alzheimer's disease pathology. (16006341)
2005
38
Mutant valosin-containing protein causes a novel type of frontotemporal dementia. (15732117)
2005
39
Frontotemporal dementia with co-occurrence of astrocytic plaques and tufted astrocytes, and severe degeneration of the cerebral white matter: a variant of corticobasal degeneration? (15841415)
2005
40
Evidence of a founder effect in families with frontotemporal dementia that harbor the tau +16 splice mutation. (14755449)
2004
41
Negative neurofilament light and tau immunostaining in frontotemporal dementia. (15178951)
2004
42
Rivastigmine in frontotemporal dementia: an open-label study. (15554751)
2004
43
Pick Complex: an integrative approach to frontotemporal dementia: primary progressive aphasia, corticobasal degeneration, and progressive supranuclear palsy. (14629785)
2003
44
Altered levels of cerebrospinal fluid reelin in frontotemporal dementia and Alzheimer's disease. (12645087)
2003
45
Corticobasal degeneration and its relationship to progressive supranuclear palsy and frontotemporal dementia. (12833363)
2003
46
Familial frontotemporal dementia associated with a novel presenilin-1 mutation. (12053127)
2002
47
Patterns of brain atrophy in frontotemporal dementia and semantic dementia. (11805245)
2002
48
Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene. (10802785)
2000
49
Complex regulation of tau exon 10, whose missplicing causes frontotemporal dementia. (10646499)
2000
50
Different variants of frontotemporal dementia: a neuropathological and immunohistochemical study. (8841663)
1996

Genetic Variations for Frontotemporal Dementia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Frontotemporal Dementia:

62 (show all 12)
id Symbol AA change Variation ID SNP ID
1MAPTp.Gly589ValVAR_010345
2MAPTp.Asn596LysVAR_010346
3MAPTp.Pro618LeuVAR_010348
4MAPTp.Pro618SerVAR_010349
5MAPTp.Ser622AsnVAR_010350
6MAPTp.Val654MetVAR_010351
7MAPTp.Arg5HisVAR_019660rs63750959
8MAPTp.Leu583ValVAR_019662
9MAPTp.Asn613HisVAR_019663
10MAPTp.Glu659ValVAR_019666
11MAPTp.Lys634MetVAR_037440
12PSEN1p.Leu113ProVAR_016215

Expression for genes affiliated with Frontotemporal Dementia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Frontotemporal Dementia

Search GEO for disease gene expression data for Frontotemporal Dementia.

Pathways for genes affiliated with Frontotemporal Dementia

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59Tocris Bioscience, 51QIAGEN, 53Reactome, 29KEGG, 37NCBI BioSystems Database, 4Cell Signaling Technology
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Compounds for genes affiliated with Frontotemporal Dementia

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44Novoseek, 24HMDB, 59Tocris Bioscience, 11DrugBank, 2BitterDB, 49PharmGKB, 28IUPHAR
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Compounds related to Frontotemporal Dementia according to GeneCards/GeneDecks:

(show top 50)    (show all 57)
idCompoundScoreTop Affiliating Genes
1thioflavine s4410.9RPS27A, APOE, SNCA, MAPT
24-hydroxynonenal44 2411.9RPS27A, SNCA, PSEN1, APOE, SOD1, MAPT
3formate4410.9RPS27A, MAPT, SNCA, APOE, SOD1
4s-1824410.9PSEN1, PSEN2
5lactacystin4410.9RPS27A, APOE, PSEN1, PSEN2, SNCA, MAPT
6valine4410.9RPS27A, PSEN1, SNCA, APOE, MAPT, PSEN2
7thioflavin4410.9SNCA, MAPT
8begacestat5910.9PSEN1, PSEN2
9sodium dodecylsulfate4410.9MAPT, RPS27A, APOE, SNCA
10glutamine4410.9MAPT, SNCA, CRYAB, PSEN1, RPS27A, VCP
11l-685,4585910.9PSEN1, PSEN2
12n acetylcysteine4410.8RPS27A, SOD1, APOE, SNCA, MAPT
13mrk 5605910.8PSEN1, PSEN2
14biotin44 11 2412.8RPS27A, APOE, PSEN1, PSEN2
15dapt5910.8PSEN1, PSEN2
16paraffin4410.8RPS27A, PSEN2, CRYAB, SNCA, MAPT, APOE
17cysteine4410.8APOE, RPS27A, ISG15, SOD1, PSEN1, SNCA
18jlk 65910.8PSEN2, PSEN1
19glutamate4410.8RPS27A, SOD1, APOE, PSEN1, PSEN2, SNCA
20h2o24410.8CRYAB, APOE, SOD1, MAPT, PSEN1, RPS27A
21spec-t4410.8PSEN1, APOE, MAPT
22lysine4410.8PSEN1, PSEN2, CRYAB, SNCA, RPS27A, ISG15
23aspartate4410.8RPS27A, PSEN1, APOE, MAPT, CRYAB, PIN1
24alanine4410.8SNCA, PIN1, PSEN1, SOD1, RPS27A, APOE
25cycloheximide4410.8PSEN1, PSEN2, ISG15, APOE, RPS27A, MAPT
26choline44 11 2412.8SNCA, PSEN1, MAPT, PSEN2
27rotenone4410.8SOD1, SNCA, RPS27A
28actinomycin d4410.8MAPT, RPS27A, APOE, PSEN2, CRYAB
296-hydroxydopamine4410.8RPS27A, SOD1, SNCA
30juglone4410.8PIN1, MAPT
31tmao4410.8SNCA, MAPT
32hydrogen44 2411.8RPS27A, ISG15, PSEN1, SNCA, PIN1
33serine4410.8APOE, PSEN2, VCP, MAPT, SNCA, PIN1
34arginine4410.8SOD1, PSEN1, APOE, RPS27A, SNCA, MAPT
35vitamin b124410.8APOE, MAPT, PSEN1
36superoxide44 2411.7CRYAB, PSEN1, TARDBP, SOD1, VCP
37guanidine hydrochloride4410.7RPS27A, APOE, SNCA
38peroxynitrite4410.7SOD1, PSEN1, SNCA
393-nitrotyrosine4410.7SNCA, SOD1
40thioflavin t4410.7APOE, SNCA
41amide4410.7RPS27A, ISG15, PIN1
42silver4410.7SNCA, RPS27A, MAPT
43chloroquine44 2 49 28 1114.6APOE, MAPT, RPS27A
44retinoic acid44 2411.6MAPT, PSEN2, PSEN1, RPS27A, INA, ISG15
45tamoxifen44 49 28 1113.5APOE, RPS27A, PSEN2
46methionine4410.5CRYAB, PSEN1, SNCA, MAPT
47tacrine44 1111.5MAPT, APOE
48nmda44 2811.5RPS27A, APOE, PSEN1, MAPT
49levodopa44 1111.3SNCA, SOD1, RPS27A
50glucose4410.1PSEN1, CRYAB, SNCA, GRN, MAPT, PSEN2

GO Terms for genes affiliated with Frontotemporal Dementia

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16Gene Ontology
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Cellular components related to Frontotemporal Dementia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1growth coneGO:03042610.6MAPT, SNCA, PSEN2, PSEN1
2axonGO:03042410.6PSEN1, PSEN2, SNCA, MAPT
3cytoplasmGO:00573710.5PIN1, APOE, ISG15, UBQLN2, SOD1, CRYAB
4ciliary rootletGO:03525310.5PSEN2, PSEN1
5cell cortexGO:00593810.4SNCA, PSEN2, PSEN1
6cytosolGO:00582910.4RPS27A, SOD1, ISG15, PSEN2, CRYAB, SNCA
7neuronal cell bodyGO:04302510.3SOD1, APOE, PSEN1, PSEN2
8Z discGO:03001810.1CRYAB, PSEN2, PSEN1

Biological processes related to Frontotemporal Dementia according to GeneCards/GeneDecks:

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1Notch receptor processingGO:00722010.8RPS27A, PSEN1, PSEN2
2positive regulation of coagulationGO:05082010.8PSEN2, PSEN1
3myeloid leukocyte differentiationGO:00257310.8PSEN2, PSEN1
4negative regulation of neuron apoptotic processGO:04352410.8SNCA, PSEN1, APOE, SOD1
5cell deathGO:00821910.8FUS, TARDBP, GRN, CHMP2B, C9orf72, APOE
6negative regulation of cholesterol biosynthetic processGO:04554110.8APOE, SOD1
7negative regulation of type I interferon productionGO:03248010.8RPS27A, ISG15, PIN1
8thymus developmentGO:04853810.8PSEN2, PSEN1, SOD1
9positive regulation of catalytic activityGO:04308510.8SOD1, PSEN1, PSEN2
10negative regulation of intracellular transportGO:03238710.8MAPT, CRYAB
11T cell activation involved in immune responseGO:00228610.8PSEN2, PSEN1
12endoplasmic reticulum calcium ion homeostasisGO:03246910.7PSEN1, PSEN2
13amyloid precursor protein catabolic processGO:04298710.7PSEN2, PSEN1
14neurofilament cytoskeleton organizationGO:06005210.7INA, SOD1
15positive regulation of receptor recyclingGO:00192110.7SNCA, PSEN1
16beta-amyloid metabolic processGO:05043510.7PSEN2, PSEN1
17negative regulation of apoptotic processGO:04306610.7RPS27A, PSEN1, PSEN2, CRYAB, SNCA
18positive regulation of apoptotic processGO:04306510.6RPS27A, SOD1, PSEN1, PSEN2
19anagenGO:04264010.6PSEN2, PSEN1
20T cell receptor signaling pathwayGO:05085210.6PSEN2, PSEN1, RPS27A
21agingGO:00756810.5APOE, CRYAB, SNCA
22brain morphogenesisGO:04885410.5PSEN2, PSEN1
23hematopoietic progenitor cell differentiationGO:00224410.5PSEN2, PSEN1
24dorsal/ventral neural tube patterningGO:02190410.4PSEN2, PSEN1
25cell fate specificationGO:00170810.2PSEN2, PSEN1

Molecular functions related to Frontotemporal Dementia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1tau protein bindingGO:04815610.5SNCA, APOE
2identical protein bindingGO:04280210.4FUS, TARDBP, SNCA, CRYAB, APOE, SOD1
3protein bindingGO:00551510.2PSEN2, PSEN1, APOE, ISG15, UBQLN2, SOD1
4lipoprotein particle bindingGO:07181310.2MAPT, APOE

Products for genes affiliated with Frontotemporal Dementia

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Sources for Frontotemporal Dementia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet