FTD
MCID: FRN006
MIFTS: 68

Frontotemporal Dementia (FTD)

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

Aliases & Classifications for Frontotemporal Dementia

MalaCards integrated aliases for Frontotemporal Dementia:

Name: Frontotemporal Dementia 57 12 73 20 53 58 72 29 54 6 44 15 70
Frontotemporal Lobar Degeneration 12 72 36 15 70
Pallidopontonigral Degeneration 57 12 72 44 70
Multiple System Tauopathy with Presenile Dementia 57 12 20 72
Dementia, Frontotemporal 57 73 13 39
Ftd 57 20 58 72
Frontotemporal Dementia with Parkinsonism 57 20 72
Frontotemporal Lobe Dementia 57 20 72
Mstd 57 20 72
Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex 57 72
Frontotemporal Lobar Degeneration with Tau Inclusions 57 72
Dementia, Frontotemporal, with Parkinsonism 57 20
Ftld with Tau Inclusions 57 72
Wilhelmsen-Lynch Disease 57 72
Ftdp17 57 72
Fldem 57 72
Ddpac 57 72
Ppnd 57 72
Wld 57 72
Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17 72
Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex; Ddpac 57
Multiple System Tauopathy with Presenile Dementia; Mstd 57
Dementia, Frontotemporal, with or Without Parkinsonism 57
Frontotemporal Dementia-Amyotrophic Lateral Sclerosis 72
Frontotemporal Dementia with Motor Neuron Disease 70
Frontotemporal Dementia with Parkinsonism-17 70
Pallidopontonigral Degeneration; Ppnd 57
Frontotemporal Lobe Dementia; Fldem 57
Grn-Related Frontotemporal Dementia 70
Wilhelmsen-Lynch Disease; Wld 57
Pick Disease of the Brain 70
Wilhemsen-Lynch Disease 12
Pick Complex 72
Ftd-Als 72
Ftld 72

Characteristics:

Orphanet epidemiological data:

58
frontotemporal dementia
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
frontotemporal dementia:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:9255
OMIM® 57 600274
KEGG 36 H00078
SNOMED-CT 67 42369001
MESH via Orphanet 45 D057180
ICD10 via Orphanet 33 G31.0
UMLS via Orphanet 71 C0338451
Orphanet 58 ORPHA282
UMLS 70 C0236642 C0338451 C0520716 more

Summaries for Frontotemporal Dementia

GARD : 20 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 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 and inclusion body myopathy with paget disease of bone and frontotemporal dementia, 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 Citalopram and Memantine have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and cortex, and related phenotypes are irritability and disinhibition

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) (Updated 05-Apr-2021)

NINDS : 53 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.

KEGG : 36 Frontotemporal lobar degeneration (FTLD) is a heterogeneous syndrome with the common feature being a relatively selective degeneration of the frontal and temporal lobes. Multiple genes have been implicated in FTLD including microtubule associate protein tau (MAPT), progranulin (PGRN),Valosin-containing protein (VCP) and chromatin modifying protein 2B (CHMP2B). MAPT mutations are associated with tau pathology. Mutations in progranulin and valosin are associated with TDP-43 inclusions. The CHMP2B mutations are associated with ubiquitin-positive pathology.

UniProtKB/Swiss-Prot : 72 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 : 73 Frontotemporal dementia (FTD), or frontotemporal neurocognitive disorder encompasses several types of... more...

Related Diseases for Frontotemporal Dementia

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

(show top 50) (show all 438)
# Related Disease Score Top Affiliating Genes
1 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 34.0 VCP UBQLN2 TMEM106B TBK1 TARDBP SQSTM1
2 inclusion body myopathy with paget disease of bone and frontotemporal dementia 33.9 VCP UBQLN2 TARDBP SQSTM1 HNRNPA2B1 HNRNPA1
3 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 33.8 VCP TARDBP MAPT GRN FUS CHMP2B
4 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 33.6 MAPT GRN
5 pick disease of brain 33.6 VCP UBQLN2 TMEM106B TARDBP SQSTM1 PSEN1
6 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 33.6 TARDBP SQSTM1 FUS C9orf72
7 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 33.6 FUS CHCHD10 C9orf72
8 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 33.3 TBK1 TARDBP
9 dementia 33.2 VCP UBQLN2 TMEM106B TBK1 TARDBP SQSTM1
10 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia 33.2 VCP FUS
11 supranuclear palsy, progressive, 1 33.2 VCP TMEM106B TARDBP PSEN1 MAPT GRN
12 semantic dementia 33.1 TMEM106B TARDBP PSEN1 MAPT GRN CHMP2B
13 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 33.0 UBQLN2 TARDBP FUS CHMP2B C9orf72
14 multisystem proteinopathy 33.0 VCP UBQLN2 TARDBP SQSTM1 HNRNPA2B1 HNRNPA1
15 progressive non-fluent aphasia 32.9 VCP TMEM106B TBK1 PSEN1 MAPT GRN
16 amyotrophic lateral sclerosis type 14 32.9 VCP UBQLN2 FUS CHMP2B
17 amyotrophic lateral sclerosis type 15 32.8 UBQLN2 CHMP2B C9orf72
18 perry syndrome 32.8 VCP TMEM106B TARDBP MAPT GRN CHMP2B
19 lateral sclerosis 32.7 VCP UBQLN2 TBK1 TARDBP SQSTM1 HNRNPA1
20 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 32.7 PSEN1 GRN CSF1R ABCA7
21 amyotrophic lateral sclerosis type 6 32.7 VCP UBQLN2 TARDBP FUS CHMP2B C9orf72
22 aphasia 32.7 VCP TMEM106B TBK1 TARDBP PSEN1 MAPT
23 amyotrophic lateral sclerosis type 22 32.6 TARDBP FUS C9orf72
24 amyotrophic lateral sclerosis 1 32.6 VCP UBQLN2 TMEM106B TBK1 TARDBP SQSTM1
25 alzheimer disease 32.5 VCP TARDBP SQSTM1 PSEN1 MAPT GRN
26 motor neuron disease 32.5 VCP UBQLN2 TBK1 TARDBP SQSTM1 MAPT
27 corticobasal degeneration 32.2 TBK1 MAPT
28 myopathy 32.1 VCP TARDBP SQSTM1 MAPT HNRNPA2B1 HNRNPA1
29 paget's disease of bone 31.9 VCP SQSTM1 HNRNPA2B1 HNRNPA1 C9orf72
30 apraxia 31.8 PSEN1 MAPT GRN C9orf72
31 mutism 31.8 TARDBP MAPT GRN CHMP2B C9orf72
32 movement disease 31.7 VCP TARDBP PSEN1 MAPT GRN FUS
33 dementia, lewy body 31.6 VCP TMEM106B TARDBP SQSTM1 PSEN1 MAPT
34 nominal aphasia 31.5 VCP TARDBP PSEN1 MAPT GRN FUS
35 prosopagnosia 31.5 TARDBP MAPT GRN CHMP2B C9orf72
36 anosognosia 31.4 PSEN1 C9orf72
37 speech and communication disorders 31.4 VCP TMEM106B TARDBP PSEN1 MAPT GRN
38 dysgraphia 31.3 TARDBP MAPT GRN FUS CHMP2B C9orf72
39 agraphia 31.3 VCP TARDBP MAPT GRN C9orf72
40 dyscalculia 31.3 VCP TARDBP MAPT GRN CHMP2B
41 normal pressure hydrocephalus 31.3 PSEN1 MAPT C9orf72
42 dystonia 31.2 SQSTM1 GRN FUS CHMP2B C9orf72
43 inclusion body myositis 31.1 VCP TARDBP SQSTM1 MAPT
44 echolalia 31.1 MAPT GRN C9orf72
45 ideomotor apraxia 31.0 TARDBP MAPT GRN FUS C9orf72
46 speech disorder 31.0 MAPT GRN C9orf72
47 disease of mental health 31.0 VCP UBQLN2 TMEM106B TBK1 TARDBP SQSTM1
48 early-onset, autosomal dominant alzheimer disease 31.0 VCP PSEN1 MAPT GRN CSF1R ABCA7
49 huntington disease 30.9 TARDBP SQSTM1 NEAT1 MAPT C9orf72
50 spastic paraplegia-paget disease of bone syndrome 30.9 VCP SQSTM1

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



Diseases related to Frontotemporal Dementia

Symptoms & Phenotypes for Frontotemporal Dementia

Human phenotypes related to Frontotemporal Dementia:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 irritability 31 HP:0000737
2 disinhibition 31 HP:0000734
3 hyperorality 31 HP:0000710
4 apathy 31 HP:0000741
5 personality changes 31 HP:0000751
6 polyphagia 31 HP:0002591
7 frontal lobe dementia 31 HP:0000727
8 parkinsonism 31 HP:0001300
9 inappropriate laughter 31 HP:0000748
10 neuronal loss in central nervous system 31 HP:0002529
11 language impairment 31 HP:0002463
12 frontotemporal dementia 31 HP:0002145
13 primitive reflex 31 HP:0002476
14 amyotrophic lateral sclerosis 31 HP:0007354
15 inappropriate sexual behavior 31 HP:0008768

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Behavioral Psychiatric Manifestations:
irritability
disinhibition
apathy
personality changes
inappropriate laughter
more
Neurologic Central Nervous System:
frontal lobe dementia
parkinsonism
language impairment
amyotrophic lateral sclerosis
primitive reflexes (palmomental, snout, glabellar)
more

Clinical features from OMIM®:

600274 (Updated 05-Apr-2021)

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 Decreased centriole number GR00290-A 8.96 HNRNPA1 VCP
2 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 behavior/neurological MP:0005386 10.21 ABCA7 C9orf72 CHCHD10 CSF1R GRN MAPT
2 hematopoietic system MP:0005397 10.18 C9orf72 CHCHD10 CHMP2B CSF1R GRN MAPT
3 homeostasis/metabolism MP:0005376 10.17 ABCA7 C9orf72 CHCHD10 CHMP2B CSF1R GRN
4 cellular MP:0005384 10.14 C9orf72 CHCHD10 CSF1R GRN MAPT MEF2C
5 immune system MP:0005387 10.1 C9orf72 CHCHD10 CHMP2B CSF1R GRN HNRNPA2B1
6 integument MP:0010771 9.85 C9orf72 CSF1R GRN MAPT MEF2C PSEN1
7 mortality/aging MP:0010768 9.77 C9orf72 CHCHD10 CHMP2B CSF1R GRN HNRNPA2B1
8 nervous system MP:0003631 9.44 ABCA7 C9orf72 CHCHD10 CHMP2B CSF1R GRN

Drugs & Therapeutics for Frontotemporal Dementia

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

(show top 50) (show all 108)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citalopram Approved Phase 4 59729-33-8 2771
2
Memantine Approved, Investigational Phase 4 19982-08-2 4054
3
Miglustat Approved Phase 4 72599-27-0 51634
4
Dexetimide Withdrawn Phase 4 21888-98-2
5
Corticosterone Experimental Phase 4 50-22-6 5753
6 Serotonin Uptake Inhibitors Phase 4
7 Excitatory Amino Acid Antagonists Phase 4
8 Hypoglycemic Agents Phase 4
9 Glycoside Hydrolase Inhibitors Phase 4
10 Anti-Retroviral Agents Phase 4
11 Anti-HIV Agents Phase 4
12 Cardiac Glycosides Phase 4
13 Anti-Inflammatory Agents Phase 4
14 Fluorodeoxyglucose F18 Phase 4
15
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
16
Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
17
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
18
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
19
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
20
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
21
tannic acid Approved Phase 3 1401-55-4
22
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
23
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
24
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
25
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
26 Methylprednisolone Acetate Phase 2, Phase 3
27 Immunosuppressive Agents Phase 2, Phase 3
28 Alkylating Agents Phase 2, Phase 3
29 Antirheumatic Agents Phase 2, Phase 3
30 Antilymphocyte Serum Phase 2, Phase 3
31
Galantamine Approved Phase 2 357-70-0 9651
32
Tolcapone Approved, Withdrawn Phase 2 134308-13-7 4659569
33
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
34
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
35
Oxytocin Approved, Vet_approved Phase 2 50-56-6 53477758 439302
36
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
37
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
38
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
39
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 6436030 5284616
40
Zinc Approved, Investigational Phase 2 7440-66-6 32051
41
Metformin Approved Phase 2 657-24-9 4091 14219
42
alemtuzumab Approved, Investigational Phase 2 216503-57-0
43
Cysteine Approved, Nutraceutical Phase 1, Phase 2 52-90-4 5862
44
Glycine Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 56-40-6 750
45
Betadex Experimental Phase 1, Phase 2 7585-39-9 320761
46 Cholinergic Agents Phase 2
47 Nootropic Agents Phase 2
48 Cholinesterase Inhibitors Phase 2
49 Catechol Phase 2
50 Histone Deacetylase Inhibitors Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 192)
# Name Status NCT ID Phase Drugs
1 Serotonergic Function and Behavioural and Psychological Symptoms of Frontotemporal Dementia Completed NCT00376051 Phase 4 Citalopram
2 A Prospective, Randomized, Multi-Center, Double-Blind, 26 Week, Placebo-Controlled Trial of Memantine (10mg BID) for the Frontal and Temporal Subtypes of Frontotemporal Dementia Completed NCT00545974 Phase 4 memantine;Placebo pill
3 A 52 Week Open Label Trial of Memantine for Frontotemporal Lobar Degeneration Completed NCT00187525 Phase 4 Memantine
4 Longitudinal Multi-Modality Imaging in Progressive Apraxia of Speech Recruiting NCT01818661 Phase 4 AV-1451
5 A Single Arm Uncontrolled 12 Months Clinical Study to Evaluate the Safety and Efficacy of Miglustat (Zavesca) for the Treatment of Niemann Pick Type C Disease (NPC) in Chinese Subjects Recruiting NCT03910621 Phase 4 Miglustat
6 Brain Amyloid Imaging With Pittsburgh Compound B in Normal Aging, Mild Cognitive Impairment, and Dementia Enrolling by invitation NCT00950430 Phase 4 Pittsburgh Compound B (C-11 PiB);F-18 FDG;Tau (18-F-AV-1451)
7 Amantadine for the Treatment of Behavioral Disturbance in Frontotemporal Dementia (FTD) Withdrawn NCT00127114 Phase 4 Amantadine;Placebo
8 An Open Label Pilot Study of the Effects of Memantine Administration on FDG-PET in Frontotemporal Dementia Completed NCT00594737 Phase 3 memantine hydrochloride
9 A Double-Blind, Placebo-Controlled, Randomized, Parallel Group, 12-Month Safety and Efficacy Trial of TRx0237 in Subjects With Behavioral Variant Frontotemporal Dementia (bvFTD) Completed NCT01626378 Phase 3 TRx0237;Placebo
10 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
11 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
12 A Phase 3, Multicenter, Randomized, Double Blind, Placebo Controlled Study to Evaluate the Efficacy and Safety of AL001 in Individuals at Risk for or With Frontotemporal Dementia Due to Heterozygous Mutations in the Progranulin Gene Recruiting NCT04374136 Phase 3 AL001;Placebo
13 The Role of Palliative Care Interventions to Reduce Circadian Rhythm Disorders in Persons With Dementia: The Healthy Patterns Study Recruiting NCT03682185 Phase 3
14 A Phase 2b/3 Open-label Trial of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Subjects With Neurologic Manifestations of Niemann-Pick Type C1 Disease Previously Treated Under Protocol VTS301 Active, not recruiting NCT03879655 Phase 2, Phase 3 VTS-270
15 A Phase 2b/3 Prospective, Randomized, Double-Blind, Sham-Controlled 3-Part Trial of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Subjects With Neurologic Manifestations of Niemann-Pick Type C1 (NPC1) Disease Active, not recruiting NCT02534844 Phase 2, Phase 3 VTS-270
16 Arimoclomol Prospective Doubleblind, Randomised, Placebo-controlled Study in Patients Diagnosed With NiemannPick Disease Type C Active, not recruiting NCT02612129 Phase 2, Phase 3 arimoclomol;Placebo
17 An Open-Label, Extension Study of the Effects of LMTM in Subjects With Alzheimer's Disease or Behavioral Variant Frontotemporal Dementia (bvFTD) Terminated NCT02245568 Phase 3 LMTM
18 A Randomized, Double-Blind, Placebo-Controlled, Dose-Escalating, Phase 2a Safety, Tolerability, and Pharmacodynamic Study of Two Doses of an Histone Deacetylase Inhibitor (FRM-0334) in Subjects With Prodromal to Moderate Frontotemporal Dementia With Granulin Mutation Unknown status NCT02149160 Phase 2 FRM-0334;Placebo
19 Alzheimer's Disease: Clinical Investigation and Neuroimage Studies Including 18F-PM-PBB3 and 18F-florbetapir (AV-45) PET Examination Unknown status NCT04305210 Phase 2 F-18 PMPBB3;18F-florbetapir
20 Double-blind, Parallel Group, Placebo-controlled Trial of the Efficacy and Tolerability of Memantine (20 mg) in Frontotemporal Dementia (FTD) Patients Completed NCT00200538 Phase 2 memantine
21 An Open Pilot Study to Evaluate the Safety and Efficacy of Galantamine in the Treatment of Pick's Disease/Frontotemporal Dementia /Pick Complex Completed NCT00416169 Phase 2 galantamine hydrobromide
22 Tau PET Imaging With 18F-AV-1451 in Subjects With MAPT Mutations Completed NCT02676843 Phase 2 18F-AV-1451
23 Investigation of the Dopamine System in Frontotemporal Dementia Completed NCT00604591 Phase 2 Tolcapone;Placebo
24 Impact of Emotional Mimicry and Oxytocin on Frontotemporal Dementia Completed NCT01937013 Phase 2 Intranasal oxytocin;Saline Nasal Mist
25 A Study Evaluating the Imaging Characteristics of Florbetapir 18F (18F-AV-45) in Patients With Frontotemporal Dementia Compared to Patients With 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 Phase I/II Trial Of Hematopoietic Stem Cell Transplant (HSCT) For Children With A Genetic Disease Of Blood Cells Without An HLA-Matched Sibling Donor Completed NCT00730314 Phase 1, Phase 2
28 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
29 A Phase 2 Clinical Trial of Intranasal Oxytocin for Frontotemporal Dementia Recruiting NCT03260920 Phase 2 Syntocinon
30 A Phase 1/2 Ascending Dose Study to Evaluate the Safety and Effects on Progranulin Levels of PR006A in Patients With Fronto-Temporal Dementia With Progranulin Mutations (FTD-GRN) Recruiting NCT04408625 Phase 1, Phase 2 Methylprednisolone;Sirolimus;Prednisone
31 Low-Dose Lithium for the Treatment of Behavioral Symptoms in Frontotemporal Dementia Recruiting NCT02862210 Phase 2 Lithium Carbonate;Placebo
32 A Phase 2, Multicenter, Open-Label Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AL001 in Heterozygous Carriers of Granulin or C9orf72 Mutations Causative of Frontotemporal Dementia Recruiting NCT03987295 Phase 2 AL001
33 A Single Center Feasibility Study of Intranasal Insulin in Frontotemporal Dementia NIFT-D Recruiting NCT04115384 Phase 2 Novolin-R insulin
34 Combined Intrathecal and Intravenous VTS-270 Therapy for Liver and Neurological Disease Associated With Niemann-Pick Disease, Type C1 Recruiting NCT03887533 Phase 1, Phase 2 VTS-270
35 The Influence of Vascular Burden, Amyloid Plaque and Tau Protein in Patients With Vascular Cognitive Impairment and Dementia With Tauopathy Recruiting NCT04309253 Phase 2 PMPBB3;AV45
36 A Single-Center, Open Label Study to Assess the Safety and Tolerability of Metformin in Subjects With C9orf72 Amyotrophic Lateral Sclerosis Over 24 Weeks of Treatment Recruiting NCT04220021 Phase 2 Metformin
37 Treating Primary Progressive Aphasia (PPA) and Elucidating Neurodegeneration in the Language Network Using Transcranial Direct Current Stimulation (tDCS) Recruiting NCT04046991 Phase 2
38 Effects of N-Acetyl-L-Leucine on Niemann Pick Type C Disease: A Multinational, Multicenter, Open-label, Rater-blinded Phase II Study. Active, not recruiting NCT03759639 Phase 2 IB1001
39 A Phase I/II Study to Evaluate the Safety and PK of iv Trappsol Cyclo (HP-β-CD) in Patients With Niemann-Pick Disease Type C NPC-1 and the Pharmacodynamic Effects of Treatment Upon Markers of Cholesterol Metabolism and Clinical Outcomes Active, not recruiting NCT02912793 Phase 1, Phase 2 Hydroxypropyl-beta-cyclodextrin
40 Phase 1/2a Study of 2-Hydroxypropyl-Beta-Cyclodextrin Therapy for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C Active, not recruiting NCT03471143 Phase 1, Phase 2 2-Hydroxypropyl-Beta-Cyclodextrin
41 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
42 A Phase 1b Open-Label, Multicenter, Dose-Escalation Study to Assess the Safety, Tolerability, and Pharmacodynamic Effects of a Single Dose of PBFT02 Delivered Into the Cisterna Magna of Adult Subjects With Frontotemporal Dementia and Mutations in the Progranulin Gene Not yet recruiting NCT04747431 Phase 1, Phase 2 PBFT02
43 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
44 F 18 T807 Tau PET Imaging of Frontotemporal Dementia Withdrawn NCT02707978 Phase 2 F 18 T807
45 An Open-label, Multicenter Safety and Tolerability Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Pediatric Subjects Aged < 4 Years With Neurologic Manifestations of Niemann-Pick Type C (NPC) Disease Withdrawn NCT03687476 Phase 2 VTS-270
46 Phase 1 Study to Determine the Efficacy of Using Far Infrared Radiation for the Management, Control and Treatment of Frontotemporal Dementia (Pick's Disease) Unknown status NCT00674960 Phase 1
47 18F-AV-1451 PET Imaging in Subjects With Frontotemporal Dementia Completed NCT03040713 Phase 1 Flortaucipir F18
48 A Phase I Dose Finding Study of Intranasal Oxytocin in Frontotemporal Dementia, Protocol # FTDOXY10EF Completed NCT01386333 Phase 1 oxytocin;Saline Nasal Mist
49 Direct Current Brain Polarization in Frontotemporal Dementia Completed NCT00077896 Phase 1
50 A First in Human Phase 1 Study in Healthy Volunteers and in Participants With Frontotemporal Dementia (FTD) With Granulin Mutation Completed NCT03636204 Phase 1

Search NIH Clinical Center for Frontotemporal Dementia

Cochrane evidence based reviews: frontotemporal dementia

Genetic Tests for Frontotemporal Dementia

Genetic tests related to Frontotemporal Dementia:

# Genetic test Affiliating Genes
1 Frontotemporal Dementia 29 MAPT PSEN1

Anatomical Context for Frontotemporal Dementia

MalaCards organs/tissues related to Frontotemporal Dementia:

40
Brain, Bone, Cortex, Amygdala, Temporal Lobe, Eye, Liver

Publications for Frontotemporal Dementia

Articles related to Frontotemporal Dementia:

(show top 50) (show all 7045)
# Title Authors PMID Year
1
Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation. 54 57 6 61
11094121 2000
2
The heritability and genetics of frontotemporal lobar degeneration. 6 57 61
19884572 2009
3
Distinct genetic forms of frontotemporal dementia. 57 6 61
18703462 2008
4
Familial early-onset dementia with tau intron 10 + 16 mutation with clinical features similar to those of Alzheimer disease. 61 6 57
17923640 2007
5
Neuropathologic variation in frontotemporal dementia due to the intronic tau 10(+16) mutation. 57 61 6
11971082 2002
6
The genetic and pathological classification of familial frontotemporal dementia. 61 6 57
11708988 2001
7
A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy. 57 6 61
10412802 1999
8
A distinct familial presenile dementia with a novel missense mutation in the tau gene. 61 6 57
10208578 1999
9
Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17. 61 57 6
9789048 1998
10
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. 6 57 61
9641683 1998
11
Atrophy patterns in IVS10+16, IVS10+3, N279K, S305N, P301L, and V337M MAPT mutations. 57 6
19786698 2009
12
Tau gene mutation in familial progressive subcortical gliosis. 57 6
10202939 1999
13
A family with autosomal dominant, non-Alzheimer's presenile dementia. 6 57
9088499 1997
14
Familial dementia with swollen achromatic neurons and corticobasal inclusion bodies: a clinical and pathological study. 6 57
8926492 1996
15
Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. 6 57
7977375 1994
16
Familial progressive subcortical gliosis. 57 6
7936288 1994
17
Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration. 6 57
1416801 1992
18
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration. 54 61 6
20142524 2010
19
Involvement of puromycin-sensitive aminopeptidase in proteolysis of tau protein in cultured cells, and attenuated proteolysis of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) mutant tau. 6 54 61
20377816 2009
20
Frontotemporal dementia in a large Swedish family is caused by a progranulin null mutation. 61 54 6
18855025 2009
21
Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia. 6 54 61
18183624 2008
22
Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative. 54 61 6
17826340 2007
23
Clinical, genetic, and pathologic characteristics of patients with frontotemporal dementia and progranulin mutations. 6 61 54
17698705 2007
24
Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation. 61 54 6
17620546 2007
25
A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology. 54 61 6
17439980 2007
26
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia. 6 54 61
17345602 2007
27
Clinicopathologic features of frontotemporal dementia with progranulin sequence variation. 61 6 54
17202431 2007
28
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. 61 54 6
16950801 2006
29
Characteristics of frontotemporal dementia patients with a Progranulin mutation. 6 61 54
16983677 2006
30
HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin. 54 61 6
16983685 2006
31
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. 54 6 61
16862116 2006
32
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. 54 61 6
16862115 2006
33
Association between tau H2 haplotype and age at onset in frontotemporal dementia. 57 54 61
16157749 2005
34
The role of tau (MAPT) in frontotemporal dementia and related tauopathies. 61 6 54
15365985 2004
35
Evidence of a founder effect in families with frontotemporal dementia that harbor the tau +16 splice mutation. 6 54 61
14755449 2004
36
A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology. 61 54 6
12509859 2003
37
Frontotemporal lobar degeneration--tau as a pied piper? 61 57 54
12481984 2002
38
Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene. 61 6 54
11912108 2002
39
A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease. 54 6 61
11891833 2002
40
Pick's disease associated with the novel Tau gene mutation K369I. 6 54 61
11601501 2001
41
Neurodegenerative tauopathies. 54 61 57
11520930 2001
42
Pick's disease is associated with mutations in the tau gene. 54 61 6
11117542 2000
43
Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation. 54 61 6
11117541 2000
44
Untangling tau-related dementia. 6 54 61
10767321 2000
45
FTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation. 6 54 61
10553987 1999
46
Phenotypic variation in hereditary frontotemporal dementia with tau mutations. 54 61 6
10514099 1999
47
Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau. 61 6 54
10374757 1999
48
Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy. 6 61
28264768 2017
49
Frontotemporal dementia with the V337M MAPT mutation: Tau-PET and pathology correlations. 61 6
28130473 2017
50
Frontotemporal dementia-related gene mutations in clinical dementia patients from a Chinese population. 6 61
27439681 2016

Variations for Frontotemporal Dementia

ClinVar genetic disease variations for Frontotemporal Dementia:

6 (show top 50) (show all 447)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MAPT NM_005910.5(MAPT):c.915+11T>C SNV Pathogenic 98219 rs63751394 GRCh37: 17:44087779-44087779
GRCh38: 17:46010413-46010413
2 MAPT NM_005910.5(MAPT):c.796C>G (p.Leu266Val) SNV Pathogenic 14266 rs63750349 GRCh37: 17:44074004-44074004
GRCh38: 17:45996638-45996638
3 MAPT NM_005910.5(MAPT):c.950A>T (p.Lys317Met) SNV Pathogenic 14268 rs63750092 GRCh37: 17:44091643-44091643
GRCh38: 17:46014277-46014277
4 GRN GRN, IVS0DS, G-C, +5 SNV Pathogenic 16006 GRCh37:
GRCh38:
5 GRN NM_002087.4(GRN):c.373C>T (p.Gln125Ter) SNV Pathogenic 16007 rs63750077 GRCh37: 17:42427619-42427619
GRCh38: 17:44350251-44350251
6 GRN NM_002087.4(GRN):c.2T>C (p.Met1Thr) SNV Pathogenic 16008 rs63751006 GRCh37: 17:42426534-42426534
GRCh38: 17:44349166-44349166
7 GRN NM_002087.4(GRN):c.3G>A (p.Met1Ile) SNV Pathogenic 16009 rs63750331 GRCh37: 17:42426535-42426535
GRCh38: 17:44349167-44349167
8 GRN NM_002087.3(GRN):c.93_96dup (p.Asp33fs) Duplication Pathogenic 16010 rs606231220 GRCh37: 17:42426621-42426622
GRCh38: 17:44349253-44349254
9 GRN NM_002087.3(GRN):c.388_391del (p.Gln130fs) Deletion Pathogenic 16011 rs63749801 GRCh37: 17:42427631-42427634
GRCh38: 17:44350263-44350266
10 GRN NM_002087.3(GRN):c.835+1G>A SNV Pathogenic 16012 rs606231221 GRCh37: 17:42428532-42428532
GRCh38: 17:44351164-44351164
11 GRN NM_002087.3(GRN):c.1144dup (p.Thr382Asnfs) Duplication Pathogenic 98169 rs63749905 GRCh37: 17:42429127-42429128
GRCh38: 17:44351759-44351760
12 GRN GRN, IVS6AS, A-G, -2 SNV Pathogenic 16019 GRCh37:
GRCh38:
13 GRN GRN, 1-BP DEL, 102C Deletion Pathogenic 16021 GRCh37:
GRCh38:
14 GRN GRN, 1-BP DEL, 154A Deletion Pathogenic 16022 GRCh37:
GRCh38:
15 GRN GRN, IVS6AS, G-A, -1 SNV Pathogenic 29743 GRCh37:
GRCh38:
16 GRN NM_002087.3(GRN):c.462+1G>C SNV Pathogenic 203455 rs794729669 GRCh37: 17:42427709-42427709
GRCh38: 17:44350341-44350341
17 GRN NM_002087.3(GRN):c.1212C>A (p.Cys404Ter) SNV Pathogenic 203457 rs193026789 GRCh37: 17:42429415-42429415
GRCh38: 17:44352047-44352047
18 GRN NM_002087.3(GRN):c.1246dup (p.Cys416fs) Duplication Pathogenic 203458 rs794729671 GRCh37: 17:42429448-42429449
GRCh38: 17:44352080-44352081
19 GRN NM_002087.3(GRN):c.87dup (p.Cys30fs) Duplication Pathogenic 203459 rs794729672 GRCh37: 17:42426617-42426618
GRCh38: 17:44349249-44349250
20 MAPT NM_005910.5(MAPT):c.1165G>A (p.Gly389Arg) SNV Pathogenic 14255 rs63750512 GRCh37: 17:44101376-44101376
GRCh38: 17:46024010-46024010
21 MAPT NM_005910.5(MAPT):c.770A>C (p.Lys257Thr) SNV Pathogenic 14259 rs63750129 GRCh37: 17:44073978-44073978
GRCh38: 17:45996612-45996612
22 MAPT NM_005910.5(MAPT):c.1106A>T (p.Lys369Ile) SNV Pathogenic 14260 rs63751264 GRCh37: 17:44096092-44096092
GRCh38: 17:46018726-46018726
23 MAPT NM_005910.5(MAPT):c.815G>T (p.Gly272Val) SNV Pathogenic 14246 rs63750376 GRCh37: 17:44074023-44074023
GRCh38: 17:45996657-45996657
24 MAPT NM_005910.5(MAPT):c.1216C>T (p.Arg406Trp) SNV Pathogenic 14247 rs63750424 GRCh37: 17:44101427-44101427
GRCh38: 17:46024061-46024061
25 MAPT NM_005910.5(MAPT):c.915+14C>T SNV Pathogenic 14248 rs63750972 GRCh37: 17:44087782-44087782
GRCh38: 17:46010416-46010416
26 MAPT NM_005910.5(MAPT):c.915+13A>G SNV Pathogenic 98221 rs63750308 GRCh37: 17:44087781-44087781
GRCh38: 17:46010415-46010415
27 MAPT NM_005910.5(MAPT):c.915+1G>A SNV Pathogenic 14251 rs1568327531 GRCh37: 17:44087769-44087769
GRCh38: 17:46010403-46010403
28 MAPT NM_005910.5(MAPT):c.1009G>A (p.Val337Met) SNV Pathogenic 14252 rs63750570 GRCh37: 17:44095995-44095995
GRCh38: 17:46018629-46018629
29 MAPT NM_005910.5(MAPT):c.837T>G (p.Asn279Lys) SNV Pathogenic 14253 rs63750756 GRCh37: 17:44087690-44087690
GRCh38: 17:46010324-46010324
30 MAPT NM_016841.5(MAPT):c.649-3842G>A SNV Pathogenic 14254 rs63751165 GRCh37: 17:44087767-44087767
GRCh38: 17:46010401-46010401
31 MAPT NM_016841.5(MAPT):c.649-3855C>T SNV Pathogenic 14256 rs63751438 GRCh37: 17:44087754-44087754
GRCh38: 17:46010388-46010388
32 MAPT NM_016841.5(MAPT):c.649-3868T>C SNV Pathogenic 14257 rs63750912 GRCh37: 17:44087741-44087741
GRCh38: 17:46010375-46010375
33 MAPT NM_005910.5(MAPT):c.1025A>T (p.Glu342Val) SNV Pathogenic 14258 rs63750711 GRCh37: 17:44096011-44096011
GRCh38: 17:46018645-46018645
34 GRN NM_002087.3(GRN):c.907del (p.Ala303fs) Deletion Pathogenic 437406 rs1555611256 GRCh37: 17:42428798-42428798
GRCh38: 17:44351430-44351430
35 GRN NM_002087.3(GRN):c.80dup (p.Val28fs) Duplication Pathogenic 540277 rs1392550887 GRCh37: 17:42426609-42426610
GRCh38: 17:44349241-44349242
36 GRN NM_002087.3(GRN):c.1414-2A>G SNV Pathogenic 447471 rs1555611412 GRCh37: 17:42429707-42429707
GRCh38: 17:44352339-44352339
37 GRN NM_002087.3(GRN):c.991C>T (p.Gln331Ter) SNV Pathogenic 569790 rs1567887496 GRCh37: 17:42428975-42428975
GRCh38: 17:44351607-44351607
38 GRN NM_002087.3(GRN):c.522_523insTGTGAAGACAGGGTGCACTGCTGTC (p.His175fs) Insertion Pathogenic 599609 rs1567886445 GRCh37: 17:42427869-42427870
GRCh38: 17:44350501-44350502
39 GRN NM_002087.3(GRN):c.753_754TG[5] (p.Asp254fs) Microsatellite Pathogenic 599610 rs63751035 GRCh37: 17:42428448-42428449
GRCh38: 17:44351080-44351081
40 GRN NM_002087.3(GRN):c.776dup (p.Cys260fs) Duplication Pathogenic 599612 rs1567887015 GRCh37: 17:42428470-42428471
GRCh38: 17:44351102-44351103
41 GRN NM_002087.3(GRN):c.1446C>A (p.Cys482Ter) SNV Pathogenic 599613 rs1567888461 GRCh37: 17:42429741-42429741
GRCh38: 17:44352373-44352373
42 GRN NM_002087.3(GRN):c.388_391del (p.Gln130fs) Deletion Pathogenic 16011 rs63749801 GRCh37: 17:42427631-42427634
GRCh38: 17:44350263-44350266
43 GRN NM_002087.3(GRN):c.560del (p.Leu187fs) Deletion Pathogenic 599615 rs1567886478 GRCh37: 17:42427907-42427907
GRCh38: 17:44350539-44350539
44 GRN NM_002087.3(GRN):c.385dup (p.Ser129fs) Duplication Pathogenic 599617 rs1567886206 GRCh37: 17:42427630-42427631
GRCh38: 17:44350262-44350263
45 GRN NM_002087.3(GRN):c.232dup (p.Ser78fs) Duplication Pathogenic 599618 rs1567885658 GRCh37: 17:42426886-42426887
GRCh38: 17:44349518-44349519
46 MAPT NM_005910.5(MAPT):c.837T>G (p.Asn279Lys) SNV Pathogenic 14253 rs63750756 GRCh37: 17:44087690-44087690
GRCh38: 17:46010324-46010324
47 MAPT NM_005910.5(MAPT):c.1216C>T (p.Arg406Trp) SNV Pathogenic 14247 rs63750424 GRCh37: 17:44101427-44101427
GRCh38: 17:46024061-46024061
48 GRN NM_002087.4(GRN):c.836-1G>C SNV Pathogenic 98157 rs63751296 GRCh37: 17:42428730-42428730
GRCh38: 17:44351362-44351362
49 GRN NM_002087.3(GRN):c.768_769dup (p.Gln257fs) Duplication Pathogenic 803427 rs1567887004 GRCh37: 17:42428463-42428464
GRCh38: 17:44351095-44351096
50 GRN NM_002087.4(GRN):c.1402C>T (p.Gln468Ter) SNV Pathogenic 98184 rs63749908 GRCh37: 17:42429605-42429605
GRCh38: 17:44352237-44352237

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

72 (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

Copy number variations for Frontotemporal Dementia from CNVD:

7
# CNVD ID Chromosome 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 IPO5 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

Expression for Frontotemporal Dementia

Search GEO for disease gene expression data for Frontotemporal Dementia.

Pathways for Frontotemporal Dementia

Pathways related to Frontotemporal Dementia according to KEGG:

36
# 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
Show member pathways
12.62 VCP UBQLN2 TBK1 TARDBP SQSTM1 PSEN1

GO Terms for Frontotemporal Dementia

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.28 VCP UBQLN2 TBK1 TARDBP SQSTM1 PSEN1
2 lysosome GO:0005764 9.65 TMEM106B SQSTM1 GRN CHMP2B C9orf72
3 autophagosome GO:0005776 9.54 UBQLN2 SQSTM1 C9orf72
4 cytoplasmic stress granule GO:0010494 9.5 VCP TARDBP C9orf72
5 intracellular membrane-bounded organelle GO:0043231 9.5 VCP TBK1 SQSTM1 MEF2C CSF1R C9orf72
6 glial cell projection GO:0097386 9.4 MAPT ABCA7
7 endosome GO:0005768 9.17 TMEM106B SQSTM1 PSEN1 GRN CHMP2B C9orf72
8 main axon GO:0044304 9.16 MAPT C9orf72

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 RNA splicing GO:0008380 9.84 TARDBP HNRNPA2B1 HNRNPA1 FUS
2 macroautophagy GO:0016236 9.69 VCP SQSTM1 CHMP2B
3 negative regulation of protein phosphorylation GO:0001933 9.65 TARDBP PSEN1 C9orf72
4 memory GO:0007613 9.63 PSEN1 MAPT ABCA7
5 learning or memory GO:0007611 9.58 PSEN1 MEF2C MAPT
6 stress granule assembly GO:0034063 9.56 MAPT C9orf72
7 lysosomal transport GO:0007041 9.55 TMEM106B GRN
8 response to ischemia GO:0002931 9.54 SQSTM1 MEF2C CSF1R
9 astrocyte activation GO:0048143 9.52 PSEN1 MAPT
10 regulation of synaptic plasticity GO:0048167 9.5 PSEN1 MEF2C MAPT
11 regulation of autophagosome assembly GO:2000785 9.49 UBQLN2 C9orf72
12 amyloid-beta formation GO:0034205 9.43 PSEN1 ABCA7
13 negative regulation of gene expression GO:0010629 9.35 TBK1 TARDBP PSEN1 MEF2C MAPT
14 gene expression GO:0010467 9.33 TARDBP PSEN1 FUS
15 astrocyte activation involved in immune response GO:0002265 9.26 PSEN1 GRN
16 autophagy GO:0006914 9.1 VCP UBQLN2 SQSTM1 PSEN1 CHMP2B C9orf72

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 VCP TARDBP MAPT HNRNPA2B1 HNRNPA1 GRN
2 protein phosphatase binding GO:0019903 9.54 VCP TBK1 CSF1R
3 pre-mRNA intronic binding GO:0097157 9.32 TARDBP HNRNPA2B1
4 identical protein binding GO:0042802 9.28 VCP UBQLN2 TBK1 TARDBP SQSTM1 MAPT
5 G-rich strand telomeric DNA binding GO:0098505 9.26 HNRNPA2B1 HNRNPA1
6 AT DNA binding GO:0003680 9.16 MEF2C MAPT
7 miRNA binding GO:0035198 9.13 NEAT1 HNRNPA2B1 HNRNPA1

Sources for Frontotemporal Dementia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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