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MCID: FRN006
MIFTS: 67

Frontotemporal Dementia

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental 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
Pallidopontonigral Degeneration 57 12 75 44 73
Multiple System Tauopathy with Presenile Dementia 57 12 53 75
Frontotemporal Lobar Degeneration 12 75 37 73
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
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.

MalaCards based summary : Frontotemporal Dementia, also known as pallidopontonigral degeneration, is related to inclusion body myopathy with paget disease of bone and frontotemporal dementia and frontotemporal lobar degeneration with tdp43 inclusions, grn-related, 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 hyperorality and frontal lobe dementia

Disease Ontology : 12 A basal ganglia disease 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.

NIH Rare Diseases : 53 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. While there are currently no treatments to slow or stop the progression of the disease, some of the symptoms can be managed. Involving a team of specialists can help ensure that the challenges of the disease are properly addressed.  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.

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)

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 150)
# Related Disease Score Top Affiliating Genes
1 inclusion body myopathy with paget disease of bone and frontotemporal dementia 35.1 TARDBP VCP
2 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 35.0 GRN MAPT
3 behavioral variant of frontotemporal dementia 34.0 C9orf72 CHMP2B GRN MAPT PSEN1 SQSTM1
4 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 34.0 C9orf72 CHCHD10 CHMP2B FUS GRN PSEN1
5 amyotrophic lateral sclerosis type 14 33.2 FUS TARDBP UBQLN2 VCP
6 semantic dementia 33.0 APOE C9orf72 CHMP2B GRN MAPT PSEN1
7 perry syndrome 33.0 C9orf72 GRN SNCA TARDBP
8 amyotrophic lateral sclerosis type 6 33.0 FUS TARDBP
9 supranuclear palsy, progressive, 1 33.0 APOE C9orf72 GRN MAPT PSEN1 SNCA
10 pick disease of brain 32.9 APOE FUS GRN MAPT PSEN1 SNCA
11 progressive non-fluent aphasia 32.9 C9orf72 CHMP2B GRN MAPT PSEN1 TMEM106B
12 alzheimer disease 31.9 APOE GRN MAPT PSEN1 SNCA SQSTM1
13 apraxia 31.6 C9orf72 GRN MAPT PSEN1
14 aphasia 31.5 APOE C9orf72 CHMP2B GRN MAPT PSEN1
15 lateral sclerosis 31.4 C9orf72 CHCHD10 FUS HNRNPA1 SQSTM1 TARDBP
16 agraphia 31.4 GRN MAPT PSEN1 TARDBP
17 vascular dementia 31.3 APOE MAPT PSEN1
18 posterior cortical atrophy 31.2 APOE MAPT
19 myopathy 31.2 CHCHD10 HNRNPA1 HNRNPA2B1 SQSTM1 VCP
20 motor neuron disease 31.2 C9orf72 CHCHD10 FUS GRN MAPT SNCA
21 dementia, lewy body 31.0 APOE GRN MAPT PSEN1 SNCA TARDBP
22 dementia 30.7 APOE C9orf72 CHCHD10 CHMP2B FUS GRN
23 parkinson disease, late-onset 29.7 APOE MAPT NEAT1 SNCA SQSTM1
24 amyotrophic lateral sclerosis 1 29.5 C9orf72 CHCHD10 CHMP2B FUS GRN HNRNPA1
25 frontotemporal dementia with parkinsonism-17 12.6
26 inclusion body myopathy with early-onset paget disease and frontotemporal dementia 12.6
27 frontotemporal dementia, chromosome 3-linked 12.5
28 amyotrophic lateral sclerosis 14 with or without frontotemporal dementia 12.5
29 grn-related frontotemporal dementia 12.5
30 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 12.5
31 amyotrophic lateral sclerosis 15 with or without frontotemporal dementia 12.4
32 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 12.4
33 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 12.4
34 chmp2b-related frontotemporal dementia 12.4
35 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 12.4
36 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 12.4
37 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 12.4
38 amyotrophic lateral sclerosis 22 with or without frontotemporal dementia 12.4
39 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia 12.3
40 c9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia 12.2
41 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 12.1
42 amyotrophic lateral sclerosis type 15 11.2
43 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 11.1
44 amyotrophic lateral sclerosis type 22 11.0
45 phonagnosia 11.0 GRN PSEN1 TARDBP
46 associative agnosia 11.0 GRN PSEN1 TARDBP
47 simultanagnosia 11.0 APOE MAPT
48 amyotrophic lateral sclerosis 18 11.0 C9orf72 FUS TARDBP
49 writing disorder 11.0 GRN PSEN1 TARDBP
50 echolalia 11.0 GRN MAPT PSEN1

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

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 121)
# 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 Radiopharmaceuticals Phase 4,Phase 2,Not Applicable
11 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1
12 Antidepressive Agents Phase 4,Phase 2,Phase 1
13 Antidepressive Agents, Second-Generation Phase 4
14 Neurotransmitter Uptake Inhibitors Phase 4
15 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1
16 Serotonin Agents Phase 4,Phase 3
17 Serotonin Uptake Inhibitors Phase 4
18 Excitatory Amino Acid Antagonists Phase 4,Phase 3,Phase 2
19 Excitatory Amino Acids Phase 4,Phase 3,Phase 2
20 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Phase 2
21 Antiviral Agents Phase 4,Phase 3,Phase 1,Phase 2
22 Anti-Inflammatory Agents Phase 4,Phase 1
23 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1
24 Analgesics Phase 4,Phase 1
25 Analgesics, Non-Narcotic Phase 4,Phase 1
26 cadexomer iodine Phase 4
27
Serotonin Investigational, Nutraceutical Phase 4,Phase 3 50-67-9 5202
28 Calamus Nutraceutical Phase 4
29
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 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
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
33
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 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
Pimavanserin Approved, Investigational Phase 3 706779-91-1 16058810
37
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
38
Iron Approved Phase 2, Phase 3 7439-89-6 23925
39 tannic acid Approved, Nutraceutical Phase 3
40
1-Deoxynojirimycin Experimental Phase 3,Phase 2 19130-96-2 1374
41 Anti-HIV Agents Phase 3,Phase 2,Phase 1
42 Anti-Retroviral Agents Phase 3,Phase 2,Phase 1
43 Cardiac Glycosides Phase 3,Phase 2,Phase 1
44 Glycoside Hydrolase Inhibitors Phase 3,Phase 2,Phase 1
45 Hypoglycemic Agents Phase 3,Phase 2,Phase 1
46 Alkylating Agents Phase 2, Phase 3
47 Antilymphocyte Serum Phase 2, Phase 3
48 Antineoplastic Agents, Alkylating Phase 2, Phase 3
49 Antirheumatic Agents Phase 2, Phase 3,Phase 1
50 Immunosuppressive Agents Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 160)
# 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 Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Recruiting NCT02004691 Phase 2, Phase 3 placebo (saline);GZ402665
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 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)
16 Conservative Iron Chelation as a Disease-modifying Strategy in Amyotrophic Lateral Sclerosis Not yet recruiting NCT03293069 Phase 2, Phase 3 Deferiprone;Placebo Oral Tablet
17 Open-Label Study of TRx0237 in Subjects With Alzheimer's Disease or Behavioral Variant Frontotemporal Dementia (bvFTD) Terminated NCT02245568 Phase 3 TRx0237
18 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
19 Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 Terminated NCT01473875 Phase 2, Phase 3 SBC-102
20 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
21 Effects of Tolcapone on Frontotemporal Dementia Unknown status NCT00604591 Phase 2 Tolcapone;Placebo
22 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
23 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
24 Efficacy and Tolerability of Memantine in Frontotemporal Dementia (FTD) Patients Completed NCT00200538 Phase 2 memantine
25 Imaging Characteristics of Florbetapir 18F in Patients With Frontotemporal Dementia, Alzheimer's Disease and Normal Controls. Completed NCT01890343 Phase 2 florbetapir 18F;18F-FDG
26 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
27 Double Blind Trial of DC Polarization in FTD Completed NCT00117858 Phase 2
28 Davunetide (AL-108) in Predicted Tauopathies - Pilot Study Completed NCT01056965 Phase 2 davunetide (AL-108, NAP);Placebo nasal spray
29 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
30 Miglustat in Niemann-Pick Type C Disease Completed NCT00517153 Phase 2 miglustat
31 Intranasal Oxytocin for Frontotemporal Dementia Recruiting NCT03260920 Phase 2 Syntocinon
32 Low-Dose Lithium for the Treatment of Behavioral Symptoms in Frontotemporal Dementia Recruiting NCT02862210 Phase 2 Lithium Carbonate;Placebo
33 Impact of Emotional Mimicry and Oxytocin on Frontotemporal Dementia Recruiting NCT01937013 Phase 2 Intranasal oxytocin;Saline Nasal Mist
34 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
35 Study of Pharmacokinetics and Preliminary Efficacy in Patients With Niemann-Pick C1 Recruiting NCT02912793 Phase 1, Phase 2 Hydroxypropyl-beta-cyclodextrin
36 Study of Lithium Carbonate to Treat Niemann-Pick Type C1 Disease Recruiting NCT03201627 Phase 1, Phase 2 Lithium Carbonate
37 Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency Recruiting NCT02292654 Phase 1, Phase 2 Olipudase alfa
38 F 18 T807 Tau PET Imaging in Familial Amyotrophic Lateral Sclerosis Active, not recruiting NCT02414230 Phase 2 Drug: F 18 T807
39 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
40 Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency Active, not recruiting NCT02193867 Phase 2 sebelipase alfa
41 F 18 T807 Tau PET Imaging of Progressive Posterior Cortical Dysfunction (IND 123119, Protocol E) Enrolling by invitation NCT02414282 Phase 2 F 18 T807
42 Tau PET Imaging With 18F-AV-1451 in Subjects With MAPT Mutations Enrolling by invitation NCT02676843 Phase 2 18F-AV-1451
43 A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Enrolling by invitation NCT02004704 Phase 2 GZ402665
44 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
45 F 18 T807 Tau PET Imaging of Frontotemporal Dementia (FTD) Withdrawn NCT02707978 Phase 2 F 18 T807
46 Far Infrared Irradiation for the Management, Control and Treatment of Frontotemporal Dementia Unknown status NCT00674960 Phase 1
47 Far Infrared Radiation Treatment of Dementia and Other Mental Illness Unknown status NCT00574054 Phase 1
48 Safety Study of Intranasal Oxytocin in Frontotemporal Dementia Completed NCT01386333 Phase 1 oxytocin;Saline Nasal Mist
49 Direct Current Brain Polarization in Frontotemporal Dementia Completed NCT00077896 Phase 1
50 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1 VTS-270

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, Bone, Amygdala, Cortex, Liver
Sources

Publications for Frontotemporal Dementia

About this section

Articles related to Frontotemporal Dementia:

(show top 50) (show all 1127)
# Title Authors Year
1
Enhanced Positive Emotional Reactivity Undermines Empathy in Behavioral Variant Frontotemporal Dementia. ( 29915557 )
2018
2
Executive and social-cognitive determinants of environmental dependency syndrome in behavioral frontotemporal dementia. ( 29809029 )
2018
3
Meaning of psychiatric symptoms in frontotemporal dementia. ( 29439161 )
2018
4
Strategic value-directed learning and memory in Alzheimer's disease and behavioural-variant frontotemporal dementia. ( 29431279 )
2018
5
Molecular Genetics of Frontotemporal Dementia Elucidated by <i>Drosophila</i> Models-Defects in Endosomala8>Lysosomal Pathway. ( 29890743 )
2018
6
Correction: Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies. ( 29377952 )
2018
7
Diagnosing pre-clinical dementia: the NZ Genetic Frontotemporal Dementia Study (FTDGeNZ). ( 29879731 )
2018
8
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
9
Affective Empathy in Behavioral Variant Frontotemporal Dementia: A Meta-Analysis. ( 29946291 )
2018
10
Frontotemporal dementia with Parkinsonism linked to chromosome-17 mutations enhance tau oligomer formation. ( 29852407 )
2018
11
Lipid Metabolism and Survival Across the Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Spectrum: Relationships to Eating Behavior and Cognition. ( 29254092 )
2018
12
Plasma tau is increased in frontotemporal dementia. ( 29440230 )
2018
13
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
14
Regional structural hypo- and hyperconnectivity of frontal-striatal and frontal-thalamic pathways in behavioral variant frontotemporal dementia. ( 29923666 )
2018
15
Autoimmunity and Frontotemporal Dementia. ( 29357796 )
2018
16
Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis. ( 29942091 )
2018
17
Progranulin Gene Therapy Improves Lysosomal Dysfunction and Microglial Pathology Associated with Frontotemporal Dementia and Neuronal Ceroid Lipofuscinosis. ( 29378861 )
2018
18
Caregiver Burden in Semantic Dementia with Right- and Left-Sided Predominant Cerebral Atrophy and in Behavioral-Variant Frontotemporal Dementia. ( 29706989 )
2018
19
Lacosamide in the Management of Behavioral Symptoms in Frontotemporal Dementia: A 2-Case Report. ( 29389672 )
2018
20
Thalamic atrophy in frontotemporal dementia - Not just a <i>C9orf72</i> problem. ( 29876259 )
2018
21
Functional Connectivity Changes in Behavioral, Semantic, and Nonfluent Variants of Frontotemporal Dementia. ( 29808100 )
2018
22
Dysregulation and Dislocation of SFPQ Disturbed DNA Organization in Alzheimer's Disease and Frontotemporal Dementia. ( 29376859 )
2018
23
Association between TBK1 mutations and risk of amyotrophic lateral sclerosis/frontotemporal dementia spectrum: a meta-analysis. ( 29349657 )
2018
24
Validity and Reliability of the Frontotemporal Dementia Rating Scale (FTD-FRS) for the Progression and Staging of Dementia in Brazilian Patients. ( 29438114 )
2018
25
Primary lateral sclerosis and the amyotrophic lateral sclerosis-frontotemporal dementia spectrum. ( 29868980 )
2018
26
The Pro-Apoptotic JNK Scaffold POSH/SH3RF1 Mediates CHMP2BIntron5-Associated Toxicity in Animal Models of Frontotemporal Dementia. ( 29432529 )
2018
27
Relevance of raised cerebrospinal fluid monocyte levels in patients with frontotemporal dementia. ( 29107846 )
2018
28
Connectivity-based characterisation of subcortical grey matter pathology in frontotemporal dementia and ALS: a multimodal neuroimaging study. ( 29423814 )
2018
29
Mutation Screening of the CHCHD2 Gene for Alzheimer's Disease and Frontotemporal Dementia in Chinese Mainland Population. ( 29376860 )
2018
30
A Modified Reading the Mind in the Eyes Test Predicts Behavioral Variant Frontotemporal Dementia Better Than Executive Function Tests. ( 29441012 )
2018
31
Parkinsonism is associated with altered primary motor cortex plasticity in frontotemporal dementia-primary progressive aphasia variant. ( 29909180 )
2018
32
Facial Emotion Recognition Performance Differentiates Between Behavioral Variant Frontotemporal Dementia and Major Depressive Disorder. ( 29360290 )
2018
33
Publisher Correction: Anti-AMPA GluA3 antibodies in Frontotemporal dementia: a new molecular target. ( 29305592 )
2018
34
Psychiatric symptoms in preclinical behavioural-variant frontotemporal dementia in<i>MAPT</i>mutation carriers. ( 29353234 )
2018
35
Comparative transcriptomics of choroid plexus in Alzheimer's disease, frontotemporal dementia and Huntington's disease: implications for CSF homeostasis. ( 29848382 )
2018
36
A Case of Rapidly Progressing Frontotemporal Dementia. ( 29403137 )
2018
37
Behavioral Variant Frontotemporal Dementia as a Serious Complication of Spontaneous Intracranial Hypotension. ( 29534203 )
2018
38
Asymmetry of post-mortem neuropathology in behavioural-variant frontotemporal dementia. ( 29228211 )
2018
39
Alzheimer's Disease and Frontotemporal Dementia: The Current State of Genetics and Genetic Testing Since the Advent of Next-Generation Sequencing. ( 29971646 )
2018
40
Slowly progressive behavioral frontotemporal dementia with C9orf72 mutation. Case report and review of the literature. ( 29355451 )
2018
41
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
42
Empathy in Frontotemporal Dementia. ( 29927802 )
2018
43
Early-stage right temporal lobe variant of frontotemporal dementia: 3 years of follow-up observations. ( 29960960 )
2018
44
Social and cognitive control skills in long-life occupation activities modulate the brain reserve in the behavioural variant of frontotemporal dementia. ( 29328983 )
2018
45
Hippocampal Subfield Volumetry: Differential Pattern of Atrophy in Different Forms of Genetic Frontotemporal Dementia. ( 29889066 )
2018
46
Beyond the face: how context modulates emotion processing in frontotemporal dementia subtypes. ( 29394332 )
2018
47
Loss of Tmem106b is unable to ameliorate frontotemporal dementia-like phenotypes in an AAV mouse model of C9ORF72-repeat induced toxicity. ( 29855382 )
2018
48
Distinct Clinical Features and Outcomes in Motor Neuron Disease Associated with Behavioural Variant Frontotemporal Dementia. ( 29886477 )
2018
49
Frontotemporal Dementia. ( 28410663 )
2017
50
Dysregulated molecular pathways in amyotrophic lateral sclerosis-frontotemporal dementia spectrum disorder. ( 28916614 )
2017
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 408)
# 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 MAPT, IVS10, C-T, +16 single nucleotide variant Pathogenic
11 MAPT MAPT, IVS10, G-A, +1 single nucleotide variant Pathogenic
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_016835.4(MAPT): c.1788T> G (p.Asn596Lys) single nucleotide variant Pathogenic rs63750756 GRCh37 Chromosome 17, 44087690: 44087690
15 MAPT NM_016835.4(MAPT): c.1788T> G (p.Asn596Lys) 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 MAPT, IVS10, T-C, +11 single nucleotide variant Pathogenic
25 MAPT NM_016835.4(MAPT): c.1747C> G (p.Leu583Val) single nucleotide variant Pathogenic rs63750349 GRCh37 Chromosome 17, 44074004: 44074004
26 MAPT NM_016835.4(MAPT): c.1747C> G (p.Leu583Val) single nucleotide variant Pathogenic rs63750349 GRCh38 Chromosome 17, 45996638: 45996638
27 MAPT NM_016835.4(MAPT): c.1901A> T (p.Lys634Met) single nucleotide variant Pathogenic rs63750092 GRCh37 Chromosome 17, 44091643: 44091643
28 MAPT NM_016835.4(MAPT): c.1901A> T (p.Lys634Met) single nucleotide variant Pathogenic rs63750092 GRCh38 Chromosome 17, 46014277: 46014277
29 PSEN1 NM_000021.3(PSEN1): c.488A> G (p.His163Arg) single nucleotide variant Pathogenic rs63750590 GRCh37 Chromosome 14, 73653568: 73653568
30 PSEN1 NM_000021.3(PSEN1): c.488A> G (p.His163Arg) single nucleotide variant Pathogenic rs63750590 GRCh38 Chromosome 14, 73186860: 73186860
31 PSEN1 NM_000021.3(PSEN1): c.737C> A (p.Ala246Glu) single nucleotide variant Pathogenic rs63750526 GRCh37 Chromosome 14, 73659540: 73659540
32 PSEN1 NM_000021.3(PSEN1): c.737C> A (p.Ala246Glu) single nucleotide variant Pathogenic rs63750526 GRCh38 Chromosome 14, 73192832: 73192832
33 PSEN1 NM_000021.3(PSEN1): c.1229G> A (p.Cys410Tyr) single nucleotide variant Pathogenic rs661 GRCh37 Chromosome 14, 73683933: 73683933
34 PSEN1 NM_000021.3(PSEN1): c.1229G> A (p.Cys410Tyr) single nucleotide variant Pathogenic rs661 GRCh38 Chromosome 14, 73217225: 73217225
35 PSEN1 NM_000021.3(PSEN1): c.617G> C (p.Gly206Ala) single nucleotide variant Pathogenic rs63750082 GRCh37 Chromosome 14, 73659420: 73659420
36 PSEN1 NM_000021.3(PSEN1): c.617G> C (p.Gly206Ala) single nucleotide variant Pathogenic rs63750082 GRCh38 Chromosome 14, 73192712: 73192712
37 PSEN1 NM_000021.3(PSEN1): c.338T> C (p.Leu113Pro) single nucleotide variant Pathogenic rs63751399 GRCh37 Chromosome 14, 73637755: 73637755
38 PSEN1 NM_000021.3(PSEN1): c.338T> C (p.Leu113Pro) single nucleotide variant Pathogenic rs63751399 GRCh38 Chromosome 14, 73171047: 73171047
39 PSEN1 NM_000021.3(PSEN1): c.1292C> A (p.Ala431Glu) single nucleotide variant Pathogenic rs63750083 GRCh37 Chromosome 14, 73685885: 73685885
40 PSEN1 NM_000021.3(PSEN1): c.1292C> A (p.Ala431Glu) single nucleotide variant Pathogenic rs63750083 GRCh38 Chromosome 14, 73219177: 73219177
41 PSEN1 NM_000021.3(PSEN1): c.236C> T (p.Ala79Val) single nucleotide variant Pathogenic rs63749824 GRCh37 Chromosome 14, 73637653: 73637653
42 PSEN1 NM_000021.3(PSEN1): c.236C> T (p.Ala79Val) single nucleotide variant Pathogenic rs63749824 GRCh38 Chromosome 14, 73170945: 73170945
43 PSEN1 NM_000021.3(PSEN1): c.344A> G (p.Tyr115Cys) single nucleotide variant Pathogenic rs63750450 GRCh37 Chromosome 14, 73640279: 73640279
44 PSEN1 NM_000021.3(PSEN1): c.344A> G (p.Tyr115Cys) single nucleotide variant Pathogenic rs63750450 GRCh38 Chromosome 14, 73173571: 73173571
45 PSEN1 NM_000021.3(PSEN1): c.626G> T (p.Gly209Val) single nucleotide variant Pathogenic rs63750053 GRCh37 Chromosome 14, 73659429: 73659429
46 PSEN1 NM_000021.3(PSEN1): c.626G> T (p.Gly209Val) single nucleotide variant Pathogenic rs63750053 GRCh38 Chromosome 14, 73192721: 73192721
47 MAPT NM_005910.5(MAPT): c.915+16C> T single nucleotide variant Pathogenic rs63751011 GRCh37 Chromosome 17, 44087784: 44087784
48 MAPT NM_005910.5(MAPT): c.915+16C> T single nucleotide variant Pathogenic rs63751011 GRCh38 Chromosome 17, 46010418: 46010418
49 GRN NM_002087.3(GRN): c.264+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs60100877 GRCh37 Chromosome 17, 42426926: 42426926
50 GRN NM_002087.3(GRN): c.264+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs60100877 GRCh38 Chromosome 17, 44349558: 44349558

Copy number variations for Frontotemporal Dementia from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 112169 17 38100000 38400000 Deletion MAPT Frontotemporal lobar degeneration
2 112794 17 41065963 41505032 Insertion CRHR1 Frontotemporal lobar degeneration
3 112795 17 41065963 41505032 Insertion IMP5 Frontotemporal lobar degeneration
4 112796 17 41065963 41505032 Insertion MAPT Frontotemporal lobar degeneration
5 112797 17 41065963 41505032 Insertion STH Frontotemporal lobar degeneration
6 113644 17 44900000 47400000 Deletion GRN Frontotemporal lobar degeneration
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 12)
# Name GO ID Score Top Affiliating Genes
1 endosome GO:0005768 9.85 C9orf72 CHMP2B GRN SQSTM1 TMEM106B
2 axon GO:0030424 9.8 C9orf72 MAPT PSEN1 SNCA
3 dendrite GO:0030425 9.8 APOE C9orf72 FUS MAPT PSEN1
4 neuronal cell body GO:0043025 9.77 APOE FUS MAPT PSEN1 SNCA
5 autophagosome GO:0005776 9.61 C9orf72 SQSTM1 UBQLN2
6 inclusion body GO:0016234 9.48 SNCA SQSTM1
7 aggresome GO:0016235 9.33 PSEN1 SQSTM1 TBK1
8 main axon GO:0044304 9.32 C9orf72 MAPT
9 growth cone GO:0030426 9.26 C9orf72 MAPT PSEN1 SNCA
10 lysosome GO:0005764 9.1 C9orf72 CHMP2B GRN SNCA SQSTM1 TMEM106B
11 extracellular exosome GO:0070062 10.16 APOE CHMP2B GRN HNRNPA1 HNRNPA2B1 SQSTM1
12 cytoplasm GO:0005737 10.13 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 macroautophagy GO:0016236 9.71 CHMP2B SQSTM1 VCP
2 negative regulation of gene expression GO:0010629 9.67 APOE MAPT TARDBP TBK1
3 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.61 MAPT SNCA VCP
4 regulation of neuronal synaptic plasticity GO:0048168 9.56 APOE SNCA
5 regulation of neuron death GO:1901214 9.55 SNCA TBK1
6 regulation of autophagosome assembly GO:2000785 9.52 C9orf72 UBQLN2
7 microglial cell activation GO:0001774 9.51 MAPT SNCA
8 stress granule assembly GO:0034063 9.49 C9orf72 MAPT
9 positive regulation of receptor recycling GO:0001921 9.48 PSEN1 SNCA
10 supramolecular fiber organization GO:0097435 9.46 MAPT SNCA
11 synapse organization GO:0050808 9.43 MAPT PSEN1 SNCA
12 amyloid precursor protein metabolic process GO:0042982 9.4 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 9.95 FUS GRN HNRNPA1 HNRNPA2B1 MAPT TARDBP
2 protein binding GO:0005515 9.91 APOE C9orf72 CHCHD10 CHMP2B FUS GRN
3 protein domain specific binding GO:0019904 9.62 CHMP2B HNRNPA1 SNCA VCP
4 tau protein binding GO:0048156 9.37 APOE SNCA
5 G-rich strand telomeric DNA binding GO:0098505 9.26 HNRNPA1 HNRNPA2B1
6 identical protein binding GO:0042802 9.23 APOE FUS MAPT SNCA SQSTM1 TARDBP
7 lipoprotein particle binding GO:0071813 9.16 APOE MAPT
Sources

Sources for Frontotemporal Dementia

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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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