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FTD
MCID: FRN006
MIFTS: 67

Frontotemporal Dementia (FTD)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Frontotemporal Dementia

About this section

MalaCards integrated aliases for Frontotemporal Dementia:

Name: Frontotemporal Dementia 57 12 76 53 54 75 29 55 6 44 15 73
Frontotemporal Lobar Degeneration 12 75 37 15 73
Pallidopontonigral Degeneration 57 12 75 44 73
Multiple System Tauopathy with Presenile Dementia 57 12 53 75
Dementia, Frontotemporal 57 76 13 40
Frontotemporal Dementia with Parkinsonism 57 53 75
Frontotemporal Lobe Dementia 57 53 75
Mstd 57 53 75
Ftd 57 53 75
Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex 57 75
Frontotemporal Lobar Degeneration with Tau Inclusions 57 75
Dementia, Frontotemporal, with Parkinsonism 57 53
Ftld with Tau Inclusions 57 75
Wilhelmsen-Lynch Disease 57 75
Ftdp17 57 75
Fldem 57 75
Ddpac 57 75
Ppnd 57 75
Wld 57 75
Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17 75
Dementia, Frontotemporal, and/or Amyotrophic Lateral Sclerosis 40
Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex; Ddpac 57
Multiple System Tauopathy with Presenile Dementia; Mstd 57
Frontotemporal Dementia, Right Temporal Atrophy Variant 59
Dementia, Frontotemporal, with or Without Parkinsonism 57
Frontotemporal Dementia-Amyotrophic Lateral Sclerosis 75
Amyotrophic Lateral Sclerosis/frontotemporal Dementia 6
Frontotemporal Dementia with Motor Neuron Disease 73
Frontotemporal Dementia with Parkinsonism-17 73
Pallidopontonigral Degeneration; Ppnd 57
Frontotemporal Lobe Dementia; Fldem 57
Grn-Related Frontotemporal Dementia 73
Wilhelmsen-Lynch Disease; Wld 57
Pick Disease of the Brain 73
Wilhemsen-Lynch Disease 12
Pick Complex 75
Ftd-Als 75
Rvftd 59
Ftld 75
Rtla 59

Characteristics:

Orphanet epidemiological data:

59
frontotemporal dementia, right temporal atrophy variant
Age of onset: Adult; Age of death: elderly;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see, e.g., )
mean age at onset 45 years
highly variable phenotype that includes several subtypes (see, e.g., )
most cases do not have mutations in the mapt gene, but map to chromosome 17q


HPO:

32
frontotemporal dementia:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases


Sources

Summaries for Frontotemporal Dementia

About this section
NIH Rare Diseases : 53 Frontotemporal dementias (FTDs) are a group of neurodegenerative disorders associated with shrinking of the frontal and temporal anterior lobes of the brain. Symptoms include marked changes in social behavior and personality, and/or problems with language. People with behavior changes may have disinhibition (with socially inappropriate behavior), apathy and loss of empathy, hyperorality (eating excessive amounts of food or attempting to consume inedible things), agitation, compulsive behavior, and various other changes. Examples of problems with language include difficulty speaking or understanding speech. Some people with FTD also develop a motor syndrome such as parkinsonism or motor neuron disease (which may be associated with various additional symptoms). There is a strong genetic component to FTDs. It sometimes follows an autosomal dominant inheritance pattern, or sometimes there is a general family history of dementia or psychiatric disorders. The three main genes responsible for familial FTD are MAPT, GRN, and C9orf72. However, the genetic cause of familial FTD cannot always be identified. While there are currently no treatments to slow or stop the progression of the disease, some of the symptoms can be managed. Treatment of symptoms may involve behavior modification, or medications for symptoms such as aggressiveness, agitation, or dangerous behaviors. Anti-depressants have been shown to improve some symptoms. Involving a team of specialists can help ensure that the challenges of the disease are properly addressed. Unfortunately, the outlook for people with FTD is poor, as the disease often progresses rapidly. However, the outlook does vary, with the disease course ranging from less than 2 years in some people, to more than 10 years in others. Although the name and classification of FTD has been a topic of discussion for over a century, the current classification considers Pick�??s disease, primary progressive aphasia, and semantic dementia as sub-types of FTD.

MalaCards based summary : Frontotemporal Dementia, also known as frontotemporal lobar degeneration, is related to inclusion body myopathy with paget disease of bone and frontotemporal dementia and frontotemporal dementia and/or amyotrophic lateral sclerosis 1, and has symptoms including myoclonus and personality changes. An important gene associated with Frontotemporal Dementia is MAPT (Microtubule Associated Protein Tau), and among its related pathways/superpathways are MAPK signaling pathway and Protein processing in endoplasmic reticulum. The drugs Dopamine and Citalopram have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and testes, and related phenotypes are irritability and amyotrophic lateral sclerosis

Disease Ontology : 12 A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language.

OMIM : 57 Frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar degeneration (FTLD). FTD, the most common subtype of FTLD, is a behavioral variant characterized by changes in social and personal conduct with loss of volition, executive dysfunction, loss of abstract thought, and decreased speech output. A second clinical subtype of FTLD is 'semantic dementia,' characterized by specific loss of comprehension of language and impaired facial and object recognition. A third clinical subtype of FTLD is 'primary progressive aphasia' (PPA), characterized by a reduction in speech production, speech errors, and word retrieval difficulties resulting in mutism and an inability to communicate. All subtypes have relative preservation of memory, at least in the early stages. FTLD is often associated with parkinsonism or motor neuron disease (MND) resembling amyotrophic lateral sclerosis (ALS; 105400) (reviews by Tolnay and Probst, 2002 and Mackenzie and Rademakers, 2007). 30,31:Mackenzie et al. (2009, 2010) provided a classification of FTLD subtypes according to the neuropathologic findings (see PATHOGENESIS below). (600274)

NINDS : 54 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.  The current designation 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.  These designations will continue to be debated.  As it is defined today, the symptoms of FTD fall into two clinical patterns that involve either (1) changes in behavior, or (2) problems with language.  The first type features behavior that can be either impulsive (disinhibited) or bored and listless (apathetic) and includes inappropriate social behavior; lack of social tact; lack of empathy; distractability; loss of insight into the behaviors of oneself and others; an increased interest in sex; changes in food preferences; agitation or, conversely, blunted emotions; neglect of personal hygiene; repetitive or compulsive behavior, and decreased energy and motivation.  The second type primarily features symptoms of language disturbance, including difficulty making or understanding speech, often in conjunction with the behavioral type’s symptoms.  Spatial skills and memory remain intact.  There is a strong genetic component to the disease; FTD often runs in families.

UniProtKB/Swiss-Prot : 75 Frontotemporal dementia: A form of dementia characterized by pathologic finding of frontotemporal lobar degeneration, presenile dementia with behavioral changes, deterioration of cognitive capacities and loss of memory. In some cases, parkinsonian symptoms are prominent. Neuropathological changes include frontotemporal atrophy often associated with atrophy of the basal ganglia, substantia nigra, amygdala. In most cases, protein tau deposits are found in glial cells and/or neurons.

Wikipedia : 76 The frontotemporal dementias (FTD) encompass six types of dementia involving the frontal or temporal... more...

Sources

Related Diseases for Frontotemporal Dementia

About this section

Diseases in the Frontotemporal Dementia family:

Grn-Related Frontotemporal Dementia Chmp2b-Related Frontotemporal Dementia

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

(show top 50) (show all 179)
# Related Disease Score Top Affiliating Genes
1 inclusion body myopathy with paget disease of bone and frontotemporal dementia 34.4 TARDBP VCP
2 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 34.2 C9orf72 CHCHD10 CHMP2B FUS GRN MAPT
3 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 34.1 GRN MAPT
4 behavioral variant of frontotemporal dementia 33.8 C9orf72 CHMP2B GRN MAPT PSEN1 SQSTM1
5 semantic dementia 32.8 APOE C9orf72 CHMP2B GRN MAPT PSEN1
6 pick disease of brain 32.7 APOE FUS GRN MAPT PSEN1 SNCA
7 supranuclear palsy, progressive, 1 32.7 APOE C9orf72 GRN MAPT PSEN1 SNCA
8 progressive non-fluent aphasia 32.5 C9orf72 CHMP2B GRN MAPT PSEN1 TMEM106B
9 amyotrophic lateral sclerosis type 14 32.5 FUS TARDBP UBQLN2 VCP
10 perry syndrome 32.3 C9orf72 GRN SNCA TARDBP
11 amyotrophic lateral sclerosis type 6 32.2 FUS TARDBP
12 dementia 31.9 APOE C9orf72 CHCHD10 CHMP2B FUS GRN
13 alzheimer disease 31.8 APOE GRN MAPT PSEN1 SNCA SQSTM1
14 amyotrophic lateral sclerosis 1 31.6 C9orf72 CHCHD10 CHMP2B FUS GRN HNRNPA1
15 lateral sclerosis 31.6 C9orf72 CHCHD10 FUS HNRNPA1 SQSTM1 TARDBP
16 aphasia 31.2 APOE C9orf72 CHMP2B GRN MAPT PSEN1
17 motor neuron disease 31.1 C9orf72 CHCHD10 FUS GRN MAPT SNCA
18 apraxia 30.9 C9orf72 GRN MAPT PSEN1
19 multiple system atrophy 1 30.9 MAPT SNCA SQSTM1
20 vascular dementia 30.7 APOE MAPT PSEN1
21 dementia, lewy body 30.6 APOE GRN MAPT PSEN1 SNCA TARDBP
22 prosopagnosia 30.6 GRN PSEN1
23 agraphia 30.6 GRN MAPT PSEN1 TARDBP
24 inclusion body myositis 30.5 APOE MAPT SQSTM1 TARDBP VCP
25 posterior cortical atrophy 30.4 APOE MAPT
26 amyloidosis 30.3 APOE PSEN1 SNCA
27 disease of mental health 30.1 APOE C9orf72 GRN MAPT PSEN1 SNCA
28 frontotemporal dementia with parkinsonism-17 12.8
29 inclusion body myopathy with early-onset paget disease and frontotemporal dementia 12.7
30 frontotemporal dementia, chromosome 3-linked 12.6
31 amyotrophic lateral sclerosis 14 with or without frontotemporal dementia 12.6
32 grn-related frontotemporal dementia 12.6
33 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 12.6
34 amyotrophic lateral sclerosis 15 with or without frontotemporal dementia 12.6
35 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 12.6
36 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 12.6
37 chmp2b-related frontotemporal dementia 12.6
38 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 12.6
39 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 12.6
40 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 12.6
41 amyotrophic lateral sclerosis 22 with or without frontotemporal dementia 12.6
42 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia 12.5
43 c9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia 12.3
44 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 12.3
45 amyotrophic lateral sclerosis type 15 11.4
46 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 11.3
47 amyotrophic lateral sclerosis type 22 11.2
48 wallerian degeneration 10.7
49 myopathy 10.7
50 intermittent claudication 10.6

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



Diseases related to Frontotemporal Dementia
Sources

Symptoms & Phenotypes for Frontotemporal Dementia

About this section

Symptoms via clinical synopsis from OMIM:

57
Neurologic Behavioral Psychiatric Manifestations:
irritability
disinhibition
apathy
personality changes
inappropriate sexual behavior
more
Neurologic Central Nervous System:
amyotrophic lateral sclerosis
parkinsonism
language impairment
frontal lobe dementia
primitive reflexes (palmomental, snout, glabellar)
more

Clinical features from OMIM:

600274

Human phenotypes related to Frontotemporal Dementia:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 irritability 32 HP:0000737
2 amyotrophic lateral sclerosis 32 HP:0007354
3 polyphagia 32 HP:0002591
4 parkinsonism 32 HP:0001300
5 language impairment 32 HP:0002463
6 disinhibition 32 HP:0000734
7 apathy 32 HP:0000741
8 personality changes 32 HP:0000751
9 inappropriate sexual behavior 32 HP:0008768
10 frontotemporal dementia 32 HP:0002145
11 neuronal loss in central nervous system 32 HP:0002529
12 frontal lobe dementia 32 HP:0000727
13 hyperorality 32 HP:0000710
14 primitive reflex 32 HP:0002476
15 inappropriate laughter 32 HP:0000748

UMLS symptoms related to Frontotemporal Dementia:


myoclonus, personality changes

GenomeRNAi Phenotypes related to Frontotemporal Dementia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased SMN2 exon 7 inclusion GR00254-A 8.62 HNRNPA1 HNRNPA2B1

MGI Mouse Phenotypes related to Frontotemporal Dementia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.85 APOE C9orf72 GRN MAPT PSEN1 SNCA
2 nervous system MP:0003631 9.65 APOE C9orf72 CHMP2B GRN MAPT PSEN1
3 no phenotypic analysis MP:0003012 9.17 APOE C9orf72 GRN MAPT SNCA TARDBP
Sources

Drugs & Therapeutics for Frontotemporal Dementia

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

(show top 50) (show all 132)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
2
Citalopram Approved Phase 4 59729-33-8 2771
3
Memantine Approved, Investigational Phase 4,Phase 3,Phase 2 19982-08-2 4054
4
Iodine Approved, Investigational Phase 4 7553-56-2 807
5
Corticosterone Experimental Phase 4,Phase 1,Early Phase 1 50-22-6 5753
6 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
7 Antiparkinson Agents Phase 4,Phase 3,Phase 2
8 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1
9 Fluorodeoxyglucose F18 Phase 4,Phase 2,Phase 1,Not Applicable
10 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1
11 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1
12 Neurotransmitter Uptake Inhibitors Phase 4
13 Antidepressive Agents, Second-Generation Phase 4
14 Antidepressive Agents Phase 4,Phase 2,Phase 1
15 Serotonin Uptake Inhibitors Phase 4
16 Serotonin Agents Phase 4,Phase 3
17 Excitatory Amino Acid Antagonists Phase 4,Phase 3,Phase 2
18 Excitatory Amino Acids Phase 4,Phase 3,Phase 2
19 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Phase 2
20 Antiviral Agents Phase 4,Phase 3,Phase 1,Phase 2
21 Anti-Inflammatory Agents Phase 4,Phase 1
22 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1
23 Analgesics, Non-Narcotic Phase 4,Phase 1
24 Analgesics Phase 4,Phase 1
25 Calamus Phase 4
26 cadexomer iodine Phase 4
27
Serotonin Investigational, Nutraceutical Phase 4,Phase 3 50-67-9 5202
28 tannic acid Approved Phase 3
29
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
30
Methylene blue Approved, Investigational Phase 3 61-73-4
31
Miglustat Approved Phase 3,Phase 2,Phase 1 72599-27-0 51634
32
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
33
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 6055-19-2, 50-18-0 2907
34
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
35
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
36
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
37
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
38
Pimavanserin Approved, Investigational Phase 3 706779-91-1 16058810
39
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
40
Iron Approved Phase 2, Phase 3 7439-89-6 23925
41
1-Deoxynojirimycin Experimental, Investigational Phase 3,Phase 2 19130-96-2 1374
42
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
43 Cardiac Glycosides Phase 3,Phase 2,Phase 1
44 Hypoglycemic Agents Phase 3,Phase 2,Phase 1
45 Glycoside Hydrolase Inhibitors Phase 3,Phase 2,Phase 1
46 Anti-Retroviral Agents Phase 3,Phase 2,Phase 1
47 Anti-HIV Agents Phase 3,Phase 2,Phase 1
48 Prednisolone acetate Phase 2, Phase 3
49 Immunosuppressive Agents Phase 2, Phase 3
50 Methylprednisolone acetate Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 175)
# Name Status NCT ID Phase Drugs
1 Serotonergic Function and Behavioural and Psychological Symptoms of Frontotemporal Dementia Completed NCT00376051 Phase 4 Citalopram
2 Memantine (10mg BID) for the Frontal and Temporal Subtypes of Frontotemporal Dementia Completed NCT00545974 Phase 4 memantine;Placebo pill
3 Longitudinal Multi-Modality Imaging in Progressive Apraxia of Speech Recruiting NCT01818661 Phase 4 AV-1451
4 Imaging of Brain Amyloid Plaques in the Aging Population Enrolling by invitation NCT00950430 Phase 4 Pittsburgh Compound B (C-11 PiB);F-18 FDG;Tau (18-F-AV-1451)
5 DaTSCAN Imaging in Aging and Neurodegenerative Disease Enrolling by invitation NCT01453127 Phase 4 I-123 Ioflupane solution injection prior to SPECT scan (DaTscan)
6 Amantadine for the Treatment of Behavioral Disturbance in Frontotemporal Dementia (FTD) Withdrawn NCT00127114 Phase 4 Amantadine;Placebo
7 Safety and Efficacy Study Evaluating TRx0237 in Subjects With Behavioral Variant Frontotemporal Dementia (bvFTD) Completed NCT01626378 Phase 3 TRx0237;Placebo
8 Open Label Pilot Study of the Effects of Memantine on FDG-PET in Frontotemporal Dementia Completed NCT00594737 Phase 3 memantine hydrochloride
9 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
10 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
11 The Healthy Patterns Study Recruiting NCT03682185 Phase 3
12 Relapse Prevention Study of Pimavanserin in Dementia-related Psychosis Recruiting NCT03325556 Phase 3 Placebo;Pimavanserin 34 mg;Pimavanserin 20 mg
13 Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type C Active, not recruiting NCT02612129 Phase 2, Phase 3 arimoclomol;Placebo
14 Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) to Treat Niemann-Pick Type C1 (NPC1) Disease Active, not recruiting NCT02534844 Phase 2, Phase 3 VTS-270;Sham Procedure Control
15 Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02004691 Phase 2, Phase 3 placebo (saline);GZ402665
16 SurVival of Lysosomal Acid Lipase Deficiency (LAL-D) Infants Treated With SebelipAse aLfa Active, not recruiting NCT01371825 Phase 2, Phase 3 Sebelipase alfa (SBC-102)
17 Conservative Iron Chelation as a Disease-modifying Strategy in Amyotrophic Lateral Sclerosis Not yet recruiting NCT03293069 Phase 2, Phase 3 Deferiprone;Placebo Oral Tablet
18 Open-Label Study of TRx0237 in Subjects With Alzheimer's Disease or Behavioral Variant Frontotemporal Dementia (bvFTD) Terminated NCT02245568 Phase 3 TRx0237
19 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
20 Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 Terminated NCT01473875 Phase 2, Phase 3 SBC-102
21 Study to Assess the Safety, Tolerability, and Pharmacodynamic (PD) Effects of FRM-0334 in Subjects With Prodromal to Moderate Frontotemporal Dementia With Granulin Mutation Unknown status NCT02149160 Phase 2 FRM-0334;Placebo
22 Effects of Tolcapone on Frontotemporal Dementia Unknown status NCT00604591 Phase 2 Tolcapone;Placebo
23 Tau PET Imaging With 18F-AV-1451 in Subjects With MAPT Mutations Unknown status NCT02676843 Phase 2 18F-AV-1451
24 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
25 Impact of Emotional Mimicry and Oxytocin on Frontotemporal Dementia Completed NCT01937013 Phase 2 Intranasal oxytocin;Saline Nasal Mist
26 A Pilot Study to Explore the Safety and Tolerability of Galantamine HBr in the Treatment of Pick Complex/Frontotemporal Dementia Completed NCT00416169 Phase 2 galantamine hydrobromide
27 Efficacy and Tolerability of Memantine in Frontotemporal Dementia (FTD) Patients Completed NCT00200538 Phase 2 memantine
28 Imaging Characteristics of Florbetapir 18F in Patients With Frontotemporal Dementia, Alzheimer's Disease and Normal Controls. Completed NCT01890343 Phase 2 florbetapir 18F;18F-FDG
29 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
30 Double Blind Trial of DC Polarization in FTD Completed NCT00117858 Phase 2
31 Davunetide (AL-108) in Predicted Tauopathies - Pilot Study Completed NCT01056965 Phase 2 davunetide (AL-108, NAP);Placebo nasal spray
32 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
33 Miglustat in Niemann-Pick Type C Disease Completed NCT00517153 Phase 2 miglustat
34 Intranasal Oxytocin for Frontotemporal Dementia Recruiting NCT03260920 Phase 2 Syntocinon
35 Low-Dose Lithium for the Treatment of Behavioral Symptoms in Frontotemporal Dementia Recruiting NCT02862210 Phase 2 Lithium Carbonate;Placebo
36 Study of IV VTS-270 for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C Recruiting NCT03471143 Phase 1, Phase 2 2-Hydroxypropyl-Beta-Cyclodextrin
37 Study of Pharmacokinetics and Preliminary Efficacy in Patients With Niemann-Pick C1 Recruiting NCT02912793 Phase 1, Phase 2 Hydroxypropyl-beta-cyclodextrin
38 Study of Lithium Carbonate to Treat Niemann-Pick Type C1 Disease Recruiting NCT03201627 Phase 1, Phase 2 Lithium Carbonate
39 F 18 T807 Tau PET Imaging in Familial Amyotrophic Lateral Sclerosis Active, not recruiting NCT02414230 Phase 2 Drug: F 18 T807
40 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
41 Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02292654 Phase 1, Phase 2 Olipudase alfa
42 Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency Active, not recruiting NCT02193867 Phase 2 sebelipase alfa
43 F 18 T807 Tau PET Imaging of Progressive Posterior Cortical Dysfunction (IND 123119, Protocol E) Enrolling by invitation NCT02414282 Phase 2 F 18 T807
44 A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Enrolling by invitation NCT02004704 Phase 2 GZ402665
45 N-Acetyl-L-Leucine for Niemann-Pick Disease, Type C (NPC) Not yet recruiting NCT03759639 Phase 2 IB1001
46 Safety and Tolerability Study of VTS-270 in Pediatric Participants With Niemann-Pick Type C (NPC) Disease Not yet recruiting NCT03687476 Phase 2 VTS-270
47 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
48 F 18 T807 Tau PET Imaging of Frontotemporal Dementia (FTD) Withdrawn NCT02707978 Phase 2 F 18 T807
49 Far Infrared Irradiation for the Management, Control and Treatment of Frontotemporal Dementia Unknown status NCT00674960 Phase 1
50 Far Infrared Radiation Treatment of Dementia and Other Mental Illness Unknown status NCT00574054 Phase 1

Search NIH Clinical Center for Frontotemporal Dementia

Cochrane evidence based reviews: frontotemporal dementia

Sources

Genetic Tests for Frontotemporal Dementia

About this section

Genetic tests related to Frontotemporal Dementia:

# Genetic test Affiliating Genes
1 Frontotemporal Dementia 29 MAPT PSEN1
Sources

Anatomical Context for Frontotemporal Dementia

About this section

MalaCards organs/tissues related to Frontotemporal Dementia:

41
Brain, Temporal Lobe, Testes, Cortex, Bone, Amygdala, Prefrontal Cortex
Sources

Publications for Frontotemporal Dementia

About this section

Articles related to Frontotemporal Dementia:

(show top 50) (show all 2085)
# Title Authors Year
1
ATXN2 intermediate repeat expansions influence the clinical phenotype in frontotemporal dementia. ( 30342763 )
2019
2
Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia. ( 30348461 )
2019
3
Enhanced Positive Emotional Reactivity Undermines Empathy in Behavioral Variant Frontotemporal Dementia. ( 29915557 )
2018
4
Executive and social-cognitive determinants of environmental dependency syndrome in behavioral frontotemporal dementia. ( 29809029 )
2018
5
Meaning of psychiatric symptoms in frontotemporal dementia. ( 29439161 )
2018
6
Strategic value-directed learning and memory in Alzheimer's disease and behavioural-variant frontotemporal dementia. ( 29431279 )
2018
7
Molecular Genetics of Frontotemporal Dementia Elucidated by <i>Drosophila</i> Models-Defects in Endosomala8>Lysosomal Pathway. ( 29890743 )
2018
8
Correction: Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies. ( 29377952 )
2018
9
Diagnosing pre-clinical dementia: the NZ Genetic Frontotemporal Dementia Study (FTDGeNZ). ( 29879731 )
2018
10
Trichotillomania Ranging from &amp;quot;Ritual to Illness&amp;quot; and as a Rare Clinical Manifestation of Frontotemporal Dementia: Review of Literature and Case Report. ( 29769783 )
2018
11
Affective Empathy in Behavioral Variant Frontotemporal Dementia: A Meta-Analysis. ( 29946291 )
2018
12
Frontotemporal dementia with Parkinsonism linked to chromosome-17 mutations enhance tau oligomer formation. ( 29852407 )
2018
13
Lipid Metabolism and Survival Across the Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Spectrum: Relationships to Eating Behavior and Cognition. ( 29254092 )
2018
14
Plasma tau is increased in frontotemporal dementia. ( 29440230 )
2018
15
Combined Socio-Behavioral Evaluation Improves the Differential Diagnosis Between the Behavioral Variant of Frontotemporal Dementia and Alzheimer's Disease: In Search of Neuropsychological Markers. ( 29254091 )
2018
16
Regional structural hypo- and hyperconnectivity of frontal-striatal and frontal-thalamic pathways in behavioral variant frontotemporal dementia. ( 29923666 )
2018
17
Autoimmunity and Frontotemporal Dementia. ( 29357796 )
2018
18
Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis. ( 29942091 )
2018
19
Progranulin Gene Therapy Improves Lysosomal Dysfunction and Microglial Pathology Associated with Frontotemporal Dementia and Neuronal Ceroid Lipofuscinosis. ( 29378861 )
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20
Caregiver Burden in Semantic Dementia with Right- and Left-Sided Predominant Cerebral Atrophy and in Behavioral-Variant Frontotemporal Dementia. ( 29706989 )
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21
Lacosamide in the Management of Behavioral Symptoms in Frontotemporal Dementia: A 2-Case Report. ( 29389672 )
2018
22
Thalamic atrophy in frontotemporal dementia - Not just a <i>C9orf72</i> problem. ( 29876259 )
2018
23
Functional Connectivity Changes in Behavioral, Semantic, and Nonfluent Variants of Frontotemporal Dementia. ( 29808100 )
2018
24
Dysregulation and Dislocation of SFPQ Disturbed DNA Organization in Alzheimer's Disease and Frontotemporal Dementia. ( 29376859 )
2018
25
Association between TBK1 mutations and risk of amyotrophic lateral sclerosis/frontotemporal dementia spectrum: a meta-analysis. ( 29349657 )
2018
26
Validity and Reliability of the Frontotemporal Dementia Rating Scale (FTD-FRS) for the Progression and Staging of Dementia in Brazilian Patients. ( 29438114 )
2018
27
Primary lateral sclerosis and the amyotrophic lateral sclerosis-frontotemporal dementia spectrum. ( 29868980 )
2018
28
The Pro-Apoptotic JNK Scaffold POSH/SH3RF1 Mediates CHMP2BIntron5-Associated Toxicity in Animal Models of Frontotemporal Dementia. ( 29432529 )
2018
29
Relevance of raised cerebrospinal fluid monocyte levels in patients with frontotemporal dementia. ( 29107846 )
2018
30
Connectivity-based characterisation of subcortical grey matter pathology in frontotemporal dementia and ALS: a multimodal neuroimaging study. ( 29423814 )
2018
31
Mutation Screening of the CHCHD2 Gene for Alzheimer's Disease and Frontotemporal Dementia in Chinese Mainland Population. ( 29376860 )
2018
32
A Modified Reading the Mind in the Eyes Test Predicts Behavioral Variant Frontotemporal Dementia Better Than Executive Function Tests. ( 29441012 )
2018
33
Parkinsonism is associated with altered primary motor cortex plasticity in frontotemporal dementia-primary progressive aphasia variant. ( 29909180 )
2018
34
Facial Emotion Recognition Performance Differentiates Between Behavioral Variant Frontotemporal Dementia and Major Depressive Disorder. ( 29360290 )
2018
35
Publisher Correction: Anti-AMPA GluA3 antibodies in Frontotemporal dementia: a new molecular target. ( 29305592 )
2018
36
Psychiatric symptoms in preclinical behavioural-variant frontotemporal dementia in<i>MAPT</i>mutation carriers. ( 29353234 )
2018
37
Comparative transcriptomics of choroid plexus in Alzheimer's disease, frontotemporal dementia and Huntington's disease: implications for CSF homeostasis. ( 29848382 )
2018
38
A Case of Rapidly Progressing Frontotemporal Dementia. ( 29403137 )
2018
39
Behavioral Variant Frontotemporal Dementia as a Serious Complication of Spontaneous Intracranial Hypotension. ( 29534203 )
2018
40
Asymmetry of post-mortem neuropathology in behavioural-variant frontotemporal dementia. ( 29228211 )
2018
41
Alzheimer's Disease and Frontotemporal Dementia: The Current State of Genetics and Genetic Testing Since the Advent of Next-Generation Sequencing. ( 29971646 )
2018
42
Slowly progressive behavioral frontotemporal dementia with C9orf72 mutation. Case report and review of the literature. ( 29355451 )
2018
43
Hepatitis B core VLP-based mis-disordered tau vaccine elicits strong immune response and alleviates cognitive deficits and neuropathology progression in Tau.P301S mouse model of Alzheimer's disease and frontotemporal dementia. ( 29914543 )
2018
44
Empathy in Frontotemporal Dementia. ( 29927802 )
2018
45
Early-stage right temporal lobe variant of frontotemporal dementia: 3 years of follow-up observations. ( 29960960 )
2018
46
Social and cognitive control skills in long-life occupation activities modulate the brain reserve in the behavioural variant of frontotemporal dementia. ( 29328983 )
2018
47
The Accuracy of INECO Frontal Screening in the Diagnosis of Executive Dysfunction in Frontotemporal Dementia and Alzheimer Disease. ( 29734264 )
2018
48
A case of Progressive Non-Fluent Aphasia as onset of Amyotrophic Lateral Sclerosis with FrontoTemporal Dementia. ( 30146930 )
2018
49
CSF Biomarkers of Neurodegeneration in Progressive Non-fluent Aphasia and Other Forms of Frontotemporal Dementia: Clues for Pathomechanisms? ( 30013506 )
2018
50
Apraxia screening predicts Alzheimer pathology in frontotemporal dementia. ( 30305323 )
2018
Sources

Variations for Frontotemporal Dementia

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UniProtKB/Swiss-Prot genetic disease variations for Frontotemporal Dementia:

75 (show all 12)
# Symbol AA change Variation ID SNP ID
1 MAPT p.Gly589Val VAR_010345 rs63750376
2 MAPT p.Asn596Lys VAR_010346 rs63750756
3 MAPT p.Pro618Leu VAR_010348 rs63751273
4 MAPT p.Pro618Ser VAR_010349 rs63751438
5 MAPT p.Ser622Asn VAR_010350 rs63751165
6 MAPT p.Val654Met VAR_010351 rs63750570
7 MAPT p.Arg5His VAR_019660 rs63750959
8 MAPT p.Leu583Val VAR_019662 rs63750349
9 MAPT p.Asn613His VAR_019663 rs63750416
10 MAPT p.Glu659Val VAR_019666 rs63750711
11 MAPT p.Lys634Met VAR_037440 rs63750092
12 PSEN1 p.Leu113Pro VAR_016215 rs63751399

ClinVar genetic disease variations for Frontotemporal Dementia:

6 (show top 50) (show all 462)
# Gene Variation Type Significance SNP ID Assembly Location
1 MAPT NM_005910.5(MAPT): c.902C> T (p.Pro301Leu) single nucleotide variant Pathogenic rs63751273 GRCh37 Chromosome 17, 44087755: 44087755
2 MAPT NM_005910.5(MAPT): c.902C> T (p.Pro301Leu) single nucleotide variant Pathogenic rs63751273 GRCh38 Chromosome 17, 46010389: 46010389
3 MAPT NM_016835.4(MAPT): c.1766G> T (p.Gly589Val) single nucleotide variant Pathogenic rs63750376 GRCh37 Chromosome 17, 44074023: 44074023
4 MAPT NM_016835.4(MAPT): c.1766G> T (p.Gly589Val) single nucleotide variant Pathogenic rs63750376 GRCh38 Chromosome 17, 45996657: 45996657
5 MAPT NM_005910.5(MAPT): c.1216C> T (p.Arg406Trp) single nucleotide variant Pathogenic rs63750424 GRCh37 Chromosome 17, 44101427: 44101427
6 MAPT NM_005910.5(MAPT): c.1216C> T (p.Arg406Trp) single nucleotide variant Pathogenic rs63750424 GRCh38 Chromosome 17, 46024061: 46024061
7 MAPT NM_016835.4(MAPT): c.1866+14C> T single nucleotide variant Pathogenic rs63750972 GRCh37 Chromosome 17, 44087782: 44087782
8 MAPT NM_016835.4(MAPT): c.1866+14C> T single nucleotide variant Pathogenic rs63750972 GRCh38 Chromosome 17, 46010416: 46010416
9 MAPT MAPT, IVS10, A-G, +13 single nucleotide variant Pathogenic
10 MAPT NG_007398.1: g.120983G> A single nucleotide variant Pathogenic GRCh37 Chromosome 17, 44087769: 44087769
11 MAPT NG_007398.1: g.120983G> A single nucleotide variant Pathogenic GRCh38 Chromosome 17, 46010403: 46010403
12 MAPT NM_016835.4(MAPT): c.1960G> A (p.Val654Met) single nucleotide variant Pathogenic rs63750570 GRCh37 Chromosome 17, 44095995: 44095995
13 MAPT NM_016835.4(MAPT): c.1960G> A (p.Val654Met) single nucleotide variant Pathogenic rs63750570 GRCh38 Chromosome 17, 46018629: 46018629
14 MAPT NM_005910.5(MAPT): c.837T> G (p.Asn279Lys) single nucleotide variant Pathogenic rs63750756 GRCh37 Chromosome 17, 44087690: 44087690
15 MAPT NM_005910.5(MAPT): c.837T> G (p.Asn279Lys) single nucleotide variant Pathogenic rs63750756 GRCh38 Chromosome 17, 46010324: 46010324
16 MAPT NM_016835.4(MAPT): c.1865G> A (p.Ser622Asn) single nucleotide variant Pathogenic rs63751165 GRCh37 Chromosome 17, 44087767: 44087767
17 MAPT NM_016835.4(MAPT): c.1865G> A (p.Ser622Asn) single nucleotide variant Pathogenic rs63751165 GRCh38 Chromosome 17, 46010401: 46010401
18 MAPT NM_016835.4(MAPT): c.1852C> T (p.Pro618Ser) single nucleotide variant Pathogenic rs63751438 GRCh37 Chromosome 17, 44087754: 44087754
19 MAPT NM_016835.4(MAPT): c.1852C> T (p.Pro618Ser) single nucleotide variant Pathogenic rs63751438 GRCh38 Chromosome 17, 46010388: 46010388
20 MAPT NM_016835.4(MAPT): c.1839T> C (p.Asn613=) single nucleotide variant Pathogenic rs63750912 GRCh37 Chromosome 17, 44087741: 44087741
21 MAPT NM_016835.4(MAPT): c.1839T> C (p.Asn613=) single nucleotide variant Pathogenic rs63750912 GRCh38 Chromosome 17, 46010375: 46010375
22 MAPT NM_016835.4(MAPT): c.1976A> T (p.Glu659Val) single nucleotide variant Pathogenic rs63750711 GRCh37 Chromosome 17, 44096011: 44096011
23 MAPT NM_016835.4(MAPT): c.1976A> T (p.Glu659Val) single nucleotide variant Pathogenic rs63750711 GRCh38 Chromosome 17, 46018645: 46018645
24 MAPT NM_005910.5(MAPT): c.14G> A (p.Arg5His) single nucleotide variant Likely benign rs63750959 GRCh37 Chromosome 17, 44039717: 44039717
25 MAPT NM_005910.5(MAPT): c.14G> A (p.Arg5His) single nucleotide variant Likely benign rs63750959 GRCh38 Chromosome 17, 45962351: 45962351
26 MAPT MAPT, IVS10, T-C, +11 single nucleotide variant Pathogenic
27 MAPT NM_016835.4(MAPT): c.1747C> G (p.Leu583Val) single nucleotide variant Pathogenic rs63750349 GRCh37 Chromosome 17, 44074004: 44074004
28 MAPT NM_016835.4(MAPT): c.1747C> G (p.Leu583Val) single nucleotide variant Pathogenic rs63750349 GRCh38 Chromosome 17, 45996638: 45996638
29 MAPT NM_016835.4(MAPT): c.1901A> T (p.Lys634Met) single nucleotide variant Pathogenic rs63750092 GRCh37 Chromosome 17, 44091643: 44091643
30 MAPT NM_016835.4(MAPT): c.1901A> T (p.Lys634Met) single nucleotide variant Pathogenic rs63750092 GRCh38 Chromosome 17, 46014277: 46014277
31 PSEN1 NM_000021.3(PSEN1): c.488A> G (p.His163Arg) single nucleotide variant Pathogenic rs63750590 GRCh37 Chromosome 14, 73653568: 73653568
32 PSEN1 NM_000021.3(PSEN1): c.488A> G (p.His163Arg) single nucleotide variant Pathogenic rs63750590 GRCh38 Chromosome 14, 73186860: 73186860
33 PSEN1 NM_000021.3(PSEN1): c.737C> A (p.Ala246Glu) single nucleotide variant Pathogenic rs63750526 GRCh37 Chromosome 14, 73659540: 73659540
34 PSEN1 NM_000021.3(PSEN1): c.737C> A (p.Ala246Glu) single nucleotide variant Pathogenic rs63750526 GRCh38 Chromosome 14, 73192832: 73192832
35 PSEN1 NM_000021.3(PSEN1): c.1229G> A (p.Cys410Tyr) single nucleotide variant Pathogenic rs661 GRCh37 Chromosome 14, 73683933: 73683933
36 PSEN1 NM_000021.3(PSEN1): c.1229G> A (p.Cys410Tyr) single nucleotide variant Pathogenic rs661 GRCh38 Chromosome 14, 73217225: 73217225
37 PSEN1 NM_000021.3(PSEN1): c.839A> C (p.Glu280Ala) single nucleotide variant Pathogenic rs63750231 GRCh37 Chromosome 14, 73664808: 73664808
38 PSEN1 NM_000021.3(PSEN1): c.839A> C (p.Glu280Ala) single nucleotide variant Pathogenic rs63750231 GRCh38 Chromosome 14, 73198100: 73198100
39 PSEN1 NM_000021.3(PSEN1): c.617G> C (p.Gly206Ala) single nucleotide variant Pathogenic rs63750082 GRCh37 Chromosome 14, 73659420: 73659420
40 PSEN1 NM_000021.3(PSEN1): c.617G> C (p.Gly206Ala) single nucleotide variant Pathogenic rs63750082 GRCh38 Chromosome 14, 73192712: 73192712
41 PSEN1 NM_000021.3(PSEN1): c.338T> C (p.Leu113Pro) single nucleotide variant Pathogenic rs63751399 GRCh37 Chromosome 14, 73637755: 73637755
42 PSEN1 NM_000021.3(PSEN1): c.338T> C (p.Leu113Pro) single nucleotide variant Pathogenic rs63751399 GRCh38 Chromosome 14, 73171047: 73171047
43 PSEN1 NM_000021.3(PSEN1): c.1292C> A (p.Ala431Glu) single nucleotide variant Pathogenic rs63750083 GRCh37 Chromosome 14, 73685885: 73685885
44 PSEN1 NM_000021.3(PSEN1): c.1292C> A (p.Ala431Glu) single nucleotide variant Pathogenic rs63750083 GRCh38 Chromosome 14, 73219177: 73219177
45 PSEN1 NM_000021.3(PSEN1): c.236C> T (p.Ala79Val) single nucleotide variant Pathogenic rs63749824 GRCh37 Chromosome 14, 73637653: 73637653
46 PSEN1 NM_000021.3(PSEN1): c.236C> T (p.Ala79Val) single nucleotide variant Pathogenic rs63749824 GRCh38 Chromosome 14, 73170945: 73170945
47 GRN NM_002087.3(GRN): c.*78C> T single nucleotide variant Benign rs5848 GRCh37 Chromosome 17, 42430244: 42430244
48 GRN NM_002087.3(GRN): c.*78C> T single nucleotide variant Benign rs5848 GRCh38 Chromosome 17, 44352876: 44352876
49 PSEN1 NM_000021.3(PSEN1): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic rs63750900 GRCh37 Chromosome 14, 73664775: 73664775
50 PSEN1 NM_000021.3(PSEN1): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic rs63750900 GRCh38 Chromosome 14, 73198067: 73198067
Sources

Expression for Frontotemporal Dementia

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

Pathways for Frontotemporal Dementia

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Pathways related to Frontotemporal Dementia according to KEGG:

37
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Protein processing in endoplasmic reticulum hsa04141
3 Endocytosis hsa04144
4 Wnt signaling pathway hsa04310
5 Notch signaling pathway hsa04330
6 Neurotrophin signaling pathway hsa04722

Pathways related to Frontotemporal Dementia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Neuroscience 4
11.56 APOE MAPT PSEN1 SNCA TARDBP
2
Alzheimers Disease Pathway 64
10.79 APOE MAPT PSEN1
Sources

GO Terms for Frontotemporal Dementia

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Cellular components related to Frontotemporal Dementia according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 endosome GO:0005768 9.85 C9orf72 CHMP2B GRN SQSTM1 TMEM106B
2 dendrite GO:0030425 9.83 APOE C9orf72 FUS MAPT PSEN1
3 neuronal cell body GO:0043025 9.72 APOE FUS MAPT PSEN1 SNCA
4 autophagosome GO:0005776 9.58 C9orf72 SQSTM1 UBQLN2
5 inclusion body GO:0016234 9.48 SNCA SQSTM1
6 aggresome GO:0016235 9.43 PSEN1 SQSTM1 TBK1
7 main axon GO:0044304 9.37 C9orf72 MAPT
8 growth cone GO:0030426 9.26 C9orf72 MAPT PSEN1 SNCA
9 lysosome GO:0005764 9.1 C9orf72 CHMP2B GRN SNCA SQSTM1 TMEM106B
10 extracellular exosome GO:0070062 10.1 APOE CHMP2B GRN HNRNPA1 HNRNPA2B1 SQSTM1
11 cytoplasm GO:0005737 10.03 APOE C9orf72 CHMP2B FUS HNRNPA1 HNRNPA2B1

Biological processes related to Frontotemporal Dementia according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.73 APOE MAPT TARDBP TBK1
2 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.65 MAPT SNCA VCP
3 macroautophagy GO:0016236 9.63 CHMP2B SQSTM1 VCP
4 regulation of neuron death GO:1901214 9.56 SNCA TBK1
5 regulation of neuronal synaptic plasticity GO:0048168 9.55 APOE SNCA
6 microglial cell activation GO:0001774 9.54 MAPT SNCA
7 positive regulation of receptor recycling GO:0001921 9.52 PSEN1 SNCA
8 stress granule assembly GO:0034063 9.51 C9orf72 MAPT
9 supramolecular fiber organization GO:0097435 9.49 MAPT SNCA
10 synapse organization GO:0050808 9.43 MAPT PSEN1 SNCA
11 regulation of autophagosome assembly GO:2000785 9.4 C9orf72 UBQLN2
12 amyloid precursor protein metabolic process GO:0042982 9.37 APOE PSEN1
13 astrocyte activation GO:0048143 9.32 MAPT PSEN1
14 negative regulation of protein phosphorylation GO:0001933 9.26 C9orf72 PSEN1 SNCA TARDBP
15 positive regulation of amyloid fibril formation GO:1905908 9.16 APOE PSEN1
16 autophagy GO:0006914 9.1 C9orf72 CHMP2B PSEN1 SQSTM1 UBQLN2 VCP

Molecular functions related to Frontotemporal Dementia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.91 FUS GRN HNRNPA1 HNRNPA2B1 MAPT TARDBP
2 protein domain specific binding GO:0019904 9.62 CHMP2B HNRNPA1 SNCA VCP
3 protein binding GO:0005515 9.6 APOE C9orf72 CHCHD10 CHMP2B FUS GRN
4 identical protein binding GO:0042802 9.56 APOE FUS MAPT SNCA SQSTM1 TARDBP
5 tau protein binding GO:0048156 9.4 APOE SNCA
6 G-rich strand telomeric DNA binding GO:0098505 9.26 HNRNPA1 HNRNPA2B1
7 lipoprotein particle binding GO:0071813 9.16 APOE MAPT
Sources

Sources for Frontotemporal Dementia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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