PIDB
MCID: PCK003
MIFTS: 69

Pick Disease of Brain (PIDB)

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

Aliases & Classifications for Pick Disease of Brain

MalaCards integrated aliases for Pick Disease of Brain:

Name: Pick Disease of Brain 57 12
Pick's Disease 12 20 53 29 6 15
Pick Disease 57 12 74 13 17
Pick Disease of the Brain 20 73 44 71
Dementia with Lobar Atrophy and Neuronal Cytoplasmic Inclusions 57 20 73
Lobar Atrophy of Brain 57 12 73
Behavioral Variant of Frontotemporal Dementia 20 58
Dementia in Pick's Disease 12
Lobar Atrophy of the Brain 20
Pick's Disease of Brain 39
Picks Disease 54
Bv-Ftd 58
Bvftd 20
Pidb 73

Characteristics:

Orphanet epidemiological data:

58
behavioral variant of frontotemporal dementia
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: elderly;

OMIM®:

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

Miscellaneous:
phenotypic overlap with frontotemporal dementia


HPO:

31
pick disease of brain:
Inheritance autosomal dominant inheritance sporadic


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Pick Disease of Brain

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.

MalaCards based summary : Pick Disease of Brain, also known as pick's disease, is related to supranuclear palsy, progressive, 1 and frontotemporal dementia, and has symptoms including myoclonus and personality changes. An important gene associated with Pick Disease of Brain is PSEN1 (Presenilin 1), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Neuroscience. The drugs Memantine and Citalopram have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and cortex, and related phenotypes are dysphasia and stereotypy

GARD : 20 Pick's disease is a neurological condition characterized by a slowly progressive deterioration of behavior, personality, or language. People with Pick's disease have abnormal substances (called Pick bodies) inside nerve cells in the damaged areas of the brain. Pick bodies contain an abnormal form of a protein called tau. This protein is found in all nerve cells, but people with Pick's disease have an abnormal amount or type of this protein. Symptoms often present sometime in the 50s, though it can occur as early as age 20 or as late as age 80. The course of the disease varies from person to person. The underlying cause of Pick's disease is unknown. In some cases, the disease runs in families. While there is no treatment to slow the progression of the disease, medications can be used to treat individual symptoms.

OMIM® : 57 Pick disease refers to the neuropathologic finding of 'Pick bodies,' which are argyrophilic, intraneuronal inclusions, and 'Pick cells,' which are enlarged neurons. The clinical correlates of Pick disease of brain include those of frontotemporal dementia, which encompass the behavioral variant of FTD, semantic dementia, and progressive nonfluent aphasia (summary by Piguet et al., 2011). Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy (601104), and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies. (172700) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Pick disease of the brain: A rare form of dementia pathologically defined by severe atrophy, neuronal loss and gliosis. It is characterized by the occurrence of tau-positive inclusions, swollen neurons (Pick cells) and argentophilic neuronal inclusions known as Pick bodies that disproportionally affect the frontal and temporal cortical regions. Clinical features include aphasia, apraxia, confusion, anomia, memory loss and personality deterioration.

Wikipedia : 74 Frontotemporal dementia (FTD), or frontotemporal neurocognitive disorder encompasses several types of... more...

Related Diseases for Pick Disease of Brain

Diseases related to Pick Disease of Brain via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 449)
# Related Disease Score Top Affiliating Genes
1 supranuclear palsy, progressive, 1 32.3 VCP TREM2 TMEM106B TARDBP SNCA RPS27A
2 frontotemporal dementia 32.3 VCP TREM2 TMEM106B TARDBP SQSTM1 SNCA
3 dystonia 31.5 SQSTM1 HTT GRN CHMP2B C9orf72 APOE
4 apraxia 31.4 PSEN1 MAPT GRN C9orf72 APOE
5 semantic dementia 31.3 TREM2 TMEM106B TARDBP RPS27A PSEN1 MAPT
6 corticobasal degeneration 31.2 TARDBP RPS27A MAPT
7 mutism 31.2 TARDBP MAPT GRN CHMP2B C9orf72
8 alzheimer disease 31.1 VCP TREM2 TARDBP SQSTM1 SNCA RPS27A
9 anosognosia 31.1 PSEN1 C9orf72 APOE
10 subjective cognitive decline 31.1 MAPT APOE
11 peripheral nervous system disease 31.0 SNCA PSEN1 MAPT HTT CHAT APP
12 lateral sclerosis 31.0 VCP TARDBP SQSTM1 CHMP2B C9orf72
13 prosopagnosia 30.9 TARDBP MAPT GRN CHMP2B C9orf72
14 huntington disease 30.9 TARDBP SQSTM1 SNCA MAPT HTT CHAT
15 progressive non-fluent aphasia 30.9 VCP TREM2 TMEM106B PSEN1 MAPT GRN
16 nominal aphasia 30.8 VCP TARDBP PSEN1 MAPT GRN CHMP2B
17 movement disease 30.8 TARDBP SNCA MAPT HTT GRN CHMP2B
18 dementia 30.7 VCP TREM2 TMEM106B TARDBP SQSTM1 SNCA
19 neuroblastoma 30.7 SNCA PSEN1 MAPT CHGA CHAT APP
20 amyotrophic lateral sclerosis 1 30.7 VCP TREM2 TMEM106B TARDBP SQSTM1 SNCA
21 hydrocephalus 30.7 PSEN1 MAPT APP APOE
22 dysgraphia 30.7 TARDBP MAPT GRN CHMP2B C9orf72
23 progressive muscular atrophy 30.7 VCP TARDBP CHMP2B C9orf72
24 akinetic mutism 30.7 TARDBP SNCA MAPT
25 aphasia 30.6 VCP TARDBP SNCA PSEN1 MAPT GRN
26 down syndrome 30.6 PSEN1 MAPT CHAT APP APOE ACHE
27 binswanger's disease 30.6 MAPT CHGA APP APOE ACHE
28 agraphia 30.6 VCP TARDBP MAPT GRN C9orf72 APOE
29 normal pressure hydrocephalus 30.6 PSEN1 MAPT CLU C9orf72 APP APOE
30 vascular dementia 30.6 PSEN1 MAPT CHAT APP APOE ACHE
31 muscular atrophy 30.6 TARDBP SQSTM1 SNCA MAPT HTT C9orf72
32 creutzfeldt-jakob disease 30.6 SNCA RPS27A MAPT CLU APP APOE
33 parkinson disease, late-onset 30.6 VCP SQSTM1 SNCA RPS27A PSEN1 MAPT
34 myopathy 30.6 VCP TARDBP SQSTM1 SNCA RPS27A MAPT
35 myositis 30.5 VCP SNCA MAPT APP
36 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 30.5 VCP TARDBP MAPT GRN CHMP2B
37 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 30.5 RPS27A MAPT GRN
38 mild cognitive impairment 30.5 MAPT CLU CHAT APP APOE
39 olivopontocerebellar atrophy 30.5 SNCA RPS27A MAPT CHAT
40 amnestic disorder 30.5 PSEN1 MAPT CHAT APP APOE ACHE
41 leukoencephalopathy, hereditary diffuse, with spheroids 30.5 TREM2 SNCA RPS27A MAPT CHAT APP
42 multiple system atrophy 1 30.5 SQSTM1 SNCA RPS27A MAPT HTT CHAT
43 amyloidosis 30.5 SNCA PSEN1 MAPT CLU APP APOE
44 cerebral amyloid angiopathy, cst3-related 30.4 TARDBP SNCA PSEN1 MAPT HTT CLU
45 neuronal ceroid lipofuscinosis 30.4 VCP TMEM106B SNCA GRN
46 speech disorder 30.4 MAPT GRN C9orf72
47 tangier disease 30.4 CLU APP APOE
48 choreatic disease 30.4 SNCA HTT C9orf72
49 dementia, lewy body 30.3 VCP TREM2 TMEM106B TARDBP SQSTM1 SNCA
50 neuromuscular disease 30.3 VCP CHAT C9orf72 ACHE

Graphical network of the top 20 diseases related to Pick Disease of Brain:



Diseases related to Pick Disease of Brain

Symptoms & Phenotypes for Pick Disease of Brain

Human phenotypes related to Pick Disease of Brain:

58 31 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002357
2 stereotypy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000733
3 thickened nuchal skin fold 58 31 hallmark (90%) Very frequent (99-80%) HP:0000474
4 irritability 58 31 hallmark (90%) Very frequent (99-80%) HP:0000737
5 dysgraphia 58 31 hallmark (90%) Very frequent (99-80%) HP:0010526
6 dyslexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0010522
7 memory impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002354
8 restlessness 58 31 hallmark (90%) Very frequent (99-80%) HP:0000711
9 aggressive behavior 58 31 hallmark (90%) Very frequent (99-80%) HP:0000718
10 disinhibition 58 31 hallmark (90%) Very frequent (99-80%) HP:0000734
11 hyperorality 58 31 hallmark (90%) Very frequent (99-80%) HP:0000710
12 echolalia 58 31 hallmark (90%) Very frequent (99-80%) HP:0010529
13 loss of speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0002371
14 personality changes 58 31 hallmark (90%) Very frequent (99-80%) HP:0000751
15 poor speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0002465
16 dyscalculia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002442
17 frontotemporal dementia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002145
18 frontotemporal cerebral atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0006892
19 perseveration 58 31 hallmark (90%) Very frequent (99-80%) HP:0030223
20 inappropriate behavior 58 31 hallmark (90%) Very frequent (99-80%) HP:0000719
21 restrictive behavior 58 31 hallmark (90%) Very frequent (99-80%) HP:0000723
22 lack of insight 58 31 hallmark (90%) Very frequent (99-80%) HP:0000757
23 emotional blunting 58 31 hallmark (90%) Very frequent (99-80%) HP:0030213
24 abnormality of the cerebral white matter 58 31 frequent (33%) Frequent (79-30%) HP:0002500
25 abnormal brain fdg positron emission tomography 58 31 frequent (33%) Frequent (79-30%) HP:0012658
26 eeg with continuous slow activity 58 31 frequent (33%) Frequent (79-30%) HP:0011204
27 collectionism 58 31 frequent (33%) Frequent (79-30%) HP:0030212
28 hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001347
29 gait disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0001288
30 abnormality of extrapyramidal motor function 58 31 occasional (7.5%) Occasional (29-5%) HP:0002071
31 fasciculations 58 31 occasional (7.5%) Occasional (29-5%) HP:0002380
32 psychosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000709
33 upper motor neuron dysfunction 58 31 occasional (7.5%) Occasional (29-5%) HP:0002493
34 apathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000741
35 mutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002300
36 astrocytosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002446
37 abulia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012671
38 bilateral tonic-clonic seizure 31 occasional (7.5%) HP:0002069
39 behavioral abnormality 58 Very frequent (99-80%)
40 mental deterioration 58 Very frequent (99-80%)
41 generalized tonic-clonic seizures 58 Occasional (29-5%)
42 polyphagia 31 HP:0002591
43 inappropriate laughter 31 HP:0000748
44 neuronal loss in central nervous system 31 HP:0002529
45 language impairment 31 HP:0002463
46 gliosis 31 HP:0002171
47 primitive reflex 31 HP:0002476

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Behavioral Psychiatric Manifestations:
irritability
disinhibition
apathy
echolalia
personality changes
more
Neurologic Central Nervous System:
language impairment
frontotemporal dementia
neuronal loss
frontotemporal lobar atrophy with 'knife-edge' distinction
atrophy may be more severe in the left hemisphere
more

Clinical features from OMIM®:

172700 (Updated 05-Mar-2021)

UMLS symptoms related to Pick Disease of Brain:


myoclonus, personality changes

GenomeRNAi Phenotypes related to Pick Disease of Brain according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.68 RPS27A
2 Decreased viability GR00231-A 9.68 SQSTM1
3 Decreased viability GR00240-S-1 9.68 CD59
4 Decreased viability GR00249-S 9.68 CHAT HTT MAPT PSEN1 RPS27A SNCA
5 Decreased viability GR00381-A-1 9.68 RPS27A SQSTM1 VCP
6 Decreased viability GR00386-A-1 9.68 APOE CHAT CHMP2B GRN RPS27A
7 Decreased viability GR00402-S-2 9.68 GRN MAPT RPS27A SQSTM1 TREM2 VCP

MGI Mouse Phenotypes related to Pick Disease of Brain:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.45 ACHE APOE APP C9orf72 CD59 CHAT
2 hematopoietic system MP:0005397 10.41 ACHE APOE APP C9orf72 CD59 CHMP2B
3 behavior/neurological MP:0005386 10.4 ACHE APOE APP C9orf72 CHAT CLU
4 growth/size/body region MP:0005378 10.4 ACHE APOE APP C9orf72 CHAT CHGA
5 cardiovascular system MP:0005385 10.39 ACHE APOE APP C9orf72 CHAT CHGA
6 cellular MP:0005384 10.35 APOE APP C9orf72 CD59 GRN HTT
7 immune system MP:0005387 10.35 APOE APP C9orf72 CHMP2B CLU GRN
8 mortality/aging MP:0010768 10.34 ACHE APOE APP C9orf72 CD59 CHAT
9 nervous system MP:0003631 10.32 ACHE APOE APP C9orf72 CHAT CHGA
10 integument MP:0010771 10.16 APOE APP C9orf72 GRN HTT MAPT
11 muscle MP:0005369 10.1 ACHE APOE APP CHAT CHGA CLU
12 no phenotypic analysis MP:0003012 10.06 ACHE APOE APP C9orf72 CHGA GRN
13 reproductive system MP:0005389 9.93 ACHE APOE APP CD59 CHAT CHGA
14 renal/urinary system MP:0005367 9.86 APOE CD59 CHGA CLU GRN MAPT
15 skeleton MP:0005390 9.65 APOE APP CHAT HTT PSEN1 SNCA
16 taste/olfaction MP:0005394 8.92 APOE HTT MAPT SNCA

Drugs & Therapeutics for Pick Disease of Brain

Drugs for Pick Disease of Brain (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 104)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Memantine Approved, Investigational Phase 4 19982-08-2 4054
2
Citalopram Approved Phase 4 59729-33-8 2771
3
Miglustat Approved Phase 4 72599-27-0 51634
4
Corticosterone Experimental Phase 4 50-22-6 5753
5 Antidepressive Agents Phase 4
6 Psychotropic Drugs Phase 4
7 Excitatory Amino Acid Antagonists Phase 4
8 Serotonin Uptake Inhibitors Phase 4
9 Anti-HIV Agents Phase 4
10 Cardiac Glycosides Phase 4
11 Anti-Retroviral Agents Phase 4
12 Hypoglycemic Agents Phase 4
13 Glycoside Hydrolase Inhibitors Phase 4
14 Anti-Inflammatory Agents Phase 4
15 Fluorodeoxyglucose F18 Phase 4
16
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
17
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
18
tannic acid Approved Phase 3 1401-55-4
19
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
20
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
21 Antirheumatic Agents Phase 2, Phase 3
22 Alkylating Agents Phase 2, Phase 3
23 Antilymphocyte Serum Phase 2, Phase 3
24 Pharmaceutical Solutions Phase 2, Phase 3
25
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
26
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
27
Galantamine Approved Phase 2 357-70-0 9651
28
Lithium carbonate Approved Phase 2 554-13-2
29 Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
30
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
31
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
32
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
33
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
34
Oxytocin Approved, Vet_approved Phase 2 50-56-6 439302 53477758
35
Zinc Approved, Investigational Phase 2 7440-66-6 32051
36
Metformin Approved Phase 2 657-24-9 14219 4091
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
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
40
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030
41
alemtuzumab Approved, Investigational Phase 2 216503-57-0
42
Cysteine Approved, Nutraceutical Phase 1, Phase 2 52-90-4 5862
43
Glycine Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 56-40-6 750
44
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
45
Betadex Experimental Phase 1, Phase 2 7585-39-9 320761
46 Histone Deacetylase Inhibitors Phase 1, Phase 2
47 Respiratory System Agents Phase 1, Phase 2
48 Antioxidants Phase 1, Phase 2
49 N-monoacetylcystine Phase 1, Phase 2
50 Expectorants Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 179)
# Name Status NCT ID Phase Drugs
1 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
2 Serotonergic Function and Behavioural and Psychological Symptoms of Frontotemporal Dementia Completed NCT00376051 Phase 4 Citalopram
3 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
4 Longitudinal Multi-Modality Imaging in Progressive Apraxia of Speech Recruiting NCT01818661 Phase 4 AV-1451
5 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)
6 Amantadine for the Treatment of Behavioral Disturbance in Frontotemporal Dementia (FTD) Withdrawn NCT00127114 Phase 4 Amantadine;Placebo
7 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
8 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
9 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
10 An Open Label Pilot Study of the Effects of Memantine Administration on FDG-PET in Frontotemporal Dementia Completed NCT00594737 Phase 3 memantine hydrochloride
11 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
12 The Role of Palliative Care Interventions to Reduce Circadian Rhythm Disorders in Persons With Dementia: The Healthy Patterns Study Recruiting NCT03682185 Phase 3
13 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
14 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
15 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
16 A Phase 2/3, Multicenter, Randomized, Double-blinded, Placebo-controlled, Repeat-dose Study to Evaluate the Efficacy, Safety, Pharmacodynamics, and Pharmacokinetics of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02004691 Phase 2, Phase 3 placebo (saline);GZ402665
17 Open-label Evaluation of Adrabetadex in Patients With Neurologic Manifestations of Niemann-Pick Type C Disease (NPC) Active, not recruiting NCT03643562 Phase 3 Adrabetadex
18 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
19 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
20 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
21 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
22 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
23 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
24 Tau PET Imaging With 18F-AV-1451 in Subjects With MAPT Mutations Completed NCT02676843 Phase 2 18F-AV-1451
25 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
26 Impact of Emotional Mimicry and Oxytocin on Frontotemporal Dementia Completed NCT01937013 Phase 2 Intranasal oxytocin;Saline Nasal Mist
27 Investigation of the Dopamine System in Frontotemporal Dementia Completed NCT00604591 Phase 2 Tolcapone;Placebo
28 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
29 A Phase 1/2, Multi-Center, Open-Label, Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Exploratory Efficacy of Olipudase Alfa in Pediatric Patients Aged <18 Years With Acid Sphingomyelinase Deficiency Completed NCT02292654 Phase 1, Phase 2 Olipudase alfa
30 A Phase II Randomized Controlled Study of Miglustat in Adult and Juvenile Patients With Niemann-Pick Type C Disease Completed NCT00517153 Phase 2 miglustat
31 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
32 Low-Dose Lithium for the Treatment of Behavioral Symptoms in Frontotemporal Dementia Recruiting NCT02862210 Phase 2 Lithium Carbonate;Placebo
33 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
34 A Single Center Feasibility Study of Intranasal Insulin in Frontotemporal Dementia NIFT-D Recruiting NCT04115384 Phase 2 Novolin-R insulin
35 Treating Primary Progressive Aphasia (PPA) and Elucidating Neurodegeneration in the Language Network Using Transcranial Direct Current Stimulation (tDCS) Recruiting NCT04046991 Phase 2
36 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
37 A Phase 2 Clinical Trial of Intranasal Oxytocin for Frontotemporal Dementia Recruiting NCT03260920 Phase 2 Syntocinon
38 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
39 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
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 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
42 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
43 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
44 A Long-Term Study to Assess the Ongoing Safety and Efficacy of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02004704 Phase 2 GZ402665
45 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
46 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
47 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
48 F 18 T807 Tau PET Imaging of Frontotemporal Dementia Withdrawn NCT02707978 Phase 2 F 18 T807
49 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
50 A Phase I/II Randomized, Controlled Study of OGT 918 in Adult and Juvenile Patients With Niemann Pick C Disease Completed NCT00316498 Phase 1 OGT918

Search NIH Clinical Center for Pick Disease of Brain

Cochrane evidence based reviews: pick disease of the brain

Genetic Tests for Pick Disease of Brain

Genetic tests related to Pick Disease of Brain:

# Genetic test Affiliating Genes
1 Pick's Disease 29 MAPT PSEN1

Anatomical Context for Pick Disease of Brain

MalaCards organs/tissues related to Pick Disease of Brain:

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

Publications for Pick Disease of Brain

Articles related to Pick Disease of Brain:

(show top 50) (show all 1127)
# Title Authors PMID Year
1
Pick's disease is associated with mutations in the tau gene. 54 6 61 57
11117542 2000
2
Pick's disease associated with the novel Tau gene mutation K369I. 6 57 61
11601501 2001
3
Analysis of tau haplotypes in Pick's disease. 57 54 61
12177383 2002
4
A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease. 6 61 54
11891833 2002
5
Transgenic mouse models of tauopathies: prospects for animal models of Pick's disease. 61 54 57
11402147 2001
6
Structures of filaments from Pick's disease reveal a novel tau protein fold. 57 61
30158706 2018
7
A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. 61 57
15122701 2004
8
Pick Complex: an integrative approach to frontotemporal dementia: primary progressive aphasia, corticobasal degeneration, and progressive supranuclear palsy. 61 57
14629785 2003
9
Sporadic Pick's disease: a tauopathy characterized by a spectrum of pathological tau isoforms in gray and white matter. 57 61
12112079 2002
10
Neuropathology of Pick's disease. 61 57
11402145 2001
11
Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposits. 61 6
10604746 1999
12
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. 61 57
9641683 1998
13
Allele epsilon 4 of apolipoprotein E shows a dose effect on age at onset of Pick disease. 57 54
7498406 1995
14
Pick's disease immunohistochemistry: new alterations and Alzheimer's disease comparisons. 57 61
7610763 1995
15
Involvement of clathrin light chains in the pathology of Pick's disease; implication for impairment of axonal transport. 61 57
7533277 1994
16
Familial Pick's disease and dementia in frontal lobe degeneration of non-Alzheimer type are not variants of prion disease. 61 57
8006666 1994
17
Frontal lobe degeneration of non-Alzheimer type. I. Neuropathology. 61 57
3689053 1987
18
Frontal lobe degeneration of non-Alzheimer type. II. Clinical picture and differential diagnosis. 57 61
3689054 1987
19
Hereditary dysphasic dementia and the Pick-Alzheimer spectrum. 61 57
6497355 1984
20
Classic and generalized variants of Pick's disease: a clinicopathological, ultrastructural, and immunocytochemical comparative study. 61 57
6093681 1984
21
Hereditary Pick's disease: second re-examination of the large family and discussion of other hereditary cases, with particular reference to electroencephalography, a computerized tomography. 61 57
7104662 1982
22
Re-examination of a family with Pick's disease. 57 61
14442619 1959
23
A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation. 6
25114083 2015
24
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. 6
24899140 2014
25
Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB. 6
23942205 2014
26
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. 6
24042580 2013
27
SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. 6
22084127 2011
28
Clinical phenotypes in autopsy-confirmed Pick disease. 57
21242493 2011
29
Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). 6
20352044 2010
30
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro. 6
17956895 2008
31
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B). 6
16807408 2006
32
A novel mutation (K378X) in the sequestosome 1 gene associated with increased NF-kappaB signaling and Paget's disease of bone with a severe phenotype. 6
16813535 2006
33
CHMP2B mutations are not a common cause of frontotemporal lobar degeneration. 6
16431024 2006
34
Frameshift proteins in autosomal dominant forms of Alzheimer disease and other tauopathies. 57
16432153 2006
35
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. 6
16041373 2005
36
Loss of ubiquitin-binding associated with Paget's disease of bone p62 (SQSTM1) mutations. 6
15765181 2005
37
Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone. 6
11992264 2002
38
Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein. 6
9450754 1998
39
Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: a genetic and clinicopathological study of three Dutch families. 57
9029063 1997
40
Phosphorylation of soluble tau differs in Pick's disease and Alzheimer's disease brains. 61 54
19693433 2009
41
Cytoplasmic inclusions of TDP-43 in neurodegenerative diseases: a potential role for caspases. 61 54
19554515 2009
42
Transmission and spreading of tauopathy in transgenic mouse brain. 61 54
19503072 2009
43
[The genetics of dementias. Part 1: Molecular basis of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)]. 61 54
19535823 2009
44
Association between a genetic variant of the alpha-7 nicotinic acetylcholine receptor subunit and four types of dementia. 54 61
19641318 2009
45
Tau oligomerization: a role for tau aggregation intermediates linked to neurodegeneration. 54 61
19075586 2008
46
Ultrastructural localization of TDP-43 in filamentous neuronal inclusions in various neurodegenerative diseases. 54 61
18607609 2008
47
Detection of filamentous tau inclusions by the fluorescent Congo red derivative FSB [(trans,trans)-1-fluoro-2,5-bis(3-hydroxycarbonyl-4-hydroxy)styrylbenzene]. 54 61
18291106 2008
48
Phosphorylation and cleavage of tau in non-AD tauopathies. 54 61
17357802 2007
49
Investigation of laser-microdissected inclusion bodies. 61 54
17586264 2007
50
Relation of hippocampal phospho-SAPK/JNK granules in Alzheimer's disease and tauopathies to granulovacuolar degeneration bodies. 54 61
17089132 2007

Variations for Pick Disease of Brain

ClinVar genetic disease variations for Pick Disease of Brain:

6 (show top 50) (show all 137)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PSEN1 NM_000021.4(PSEN1):c.548G>T (p.Gly183Val) SNV Pathogenic 18149 rs63751068 14:73653628-73653628 14:73186920-73186920
2 MAPT NM_005910.5(MAPT):c.1165G>A (p.Gly389Arg) SNV Pathogenic 14255 rs63750512 17:44101376-44101376 17:46024010-46024010
3 MAPT NM_005910.5(MAPT):c.770A>C (p.Lys257Thr) SNV Pathogenic 14259 rs63750129 17:44073978-44073978 17:45996612-45996612
4 MAPT NM_005910.5(MAPT):c.1106A>T (p.Lys369Ile) SNV Pathogenic 14260 rs63751264 17:44096092-44096092 17:46018726-46018726
5 CHMP2B CHMP2B, IVS5AS, G-C SNV Pathogenic 1652
6 CHMP2B NM_014043.4(CHMP2B):c.442G>T (p.Asp148Tyr) SNV Pathogenic 1653 rs63750653 3:87302571-87302571 3:87253421-87253421
7 CHMP2B NM_014043.4(CHMP2B):c.493C>T (p.Gln165Ter) SNV Pathogenic 1655 rs63750355 3:87302622-87302622 3:87253472-87253472
8 MAPT NM_005910.5(MAPT):c.959C>T (p.Ser320Phe) SNV Pathogenic 14262 rs63750635 17:44091652-44091652 17:46014286-46014286
9 CHMP2B NM_014043.4(CHMP2B):c.532-1G>A SNV Pathogenic 21505 rs63750652 3:87302861-87302861 3:87253711-87253711
10 CHMP2B NM_014043.4(CHMP2B):c.556C>T (p.Arg186Ter) SNV Pathogenic 21506 rs63751048 3:87302886-87302886 3:87253736-87253736
11 CHMP2B NM_014043.4(CHMP2B):c.618A>C (p.Gln206His) SNV Pathogenic 1654 rs63751126 3:87302948-87302948 3:87253798-87253798
12 SQSTM1 NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) SNV Pathogenic 8108 rs104893941 5:179263445-179263445 5:179836445-179836445
13 SQSTM1 NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val) SNV Pathogenic 253029 rs200396166 5:179248034-179248034 5:179821034-179821034
14 PSEN1 NM_000021.4(PSEN1):c.236C>T (p.Ala79Val) SNV Pathogenic 18157 rs63749824 14:73637653-73637653 14:73170945-73170945
15 PSEN1 NM_000021.4(PSEN1):c.488A>G (p.His163Arg) SNV Pathogenic 18124 rs63750590 14:73653568-73653568 14:73186860-73186860
16 PSEN1 NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu) SNV Pathogenic 18125 rs63750526 14:73659540-73659540 14:73192832-73192832
17 PSEN1 NM_000021.4(PSEN1):c.626G>T (p.Gly209Val) SNV Pathogenic 98053 rs63750053 14:73659429-73659429 14:73192721-73192721
18 PSEN1 NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) SNV Pathogenic 18127 rs661 14:73683933-73683933 14:73217225-73217225
19 PSEN1 NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu) SNV Pathogenic 18155 rs63750083 14:73685885-73685885 14:73219177-73219177
20 PSEN1 NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) SNV Pathogenic 18143 rs63750082 14:73659420-73659420 14:73192712-73192712
21 PSEN1 NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys) SNV Pathogenic 98015 rs63750450 14:73640279-73640279 14:73173571-73173571
22 MAPT NM_005910.5(MAPT):c.837T>G (p.Asn279Lys) SNV Pathogenic 14253 rs63750756 17:44087690-44087690 17:46010324-46010324
23 MAPT NM_005910.5(MAPT):c.902C>T (p.Pro301Leu) SNV Pathogenic 14245 rs63751273 17:44087755-44087755 17:46010389-46010389
24 MAPT NM_005910.5(MAPT):c.1216C>T (p.Arg406Trp) SNV Pathogenic 14247 rs63750424 17:44101427-44101427 17:46024061-46024061
25 PSEN1 NM_000021.4(PSEN1):c.806G>A (p.Arg269His) SNV Pathogenic 38297 rs63750900 14:73664775-73664775 14:73198067-73198067
26 PSEN1 NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala) SNV Pathogenic 18131 rs63750231 14:73664808-73664808 14:73198100-73198100
27 PSEN1 NM_000021.4(PSEN1):c.869-2A>T SNV Pathogenic 579680 rs1566650594 14:73673092-73673092 14:73206384-73206384
28 PSEN1 NM_000021.4(PSEN1):c.347C>A (p.Thr116Asn) SNV Pathogenic 659639 rs63750730 14:73640282-73640282 14:73173574-73173574
29 PSEN1 NM_000021.4(PSEN1):c.697A>G (p.Met233Val) SNV Pathogenic 21028 rs63751287 14:73659500-73659500 14:73192792-73192792
30 PSEN1 NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser) SNV Pathogenic 98022 rs63751278 14:73640339-73640339 14:73173631-73173631
31 PSEN1 NM_000021.4(PSEN1):c.1254G>C (p.Leu418Phe) SNV Pathogenic 845851 14:73685847-73685847 14:73219139-73219139
32 PSEN1 NM_000021.4(PSEN1):c.428T>C (p.Ile143Thr) SNV Pathogenic 98026 rs63750004 14:73640363-73640363 14:73173655-73173655
33 PSEN1 NM_000021.4(PSEN1):c.811C>G (p.Leu271Val) SNV Pathogenic 18148 rs63750886 14:73664780-73664780 14:73198072-73198072
34 PSEN1 NM_000021.4(PSEN1):c.436A>C (p.Met146Leu) SNV Pathogenic 18123 rs63750306 14:73640371-73640371 14:73173663-73173663
35 SQSTM1 NM_003900.5(SQSTM1):c.1160C>T (p.Pro387Leu) SNV Pathogenic 202211 rs776749939 5:179260777-179260777 5:179833777-179833777
36 SQSTM1 NM_003900.5(SQSTM1):c.1128del (p.Gly376_Leu377insTer) Deletion Likely pathogenic 976342 5:179260743-179260743 5:179833743-179833743
37 PSEN1 NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) SNV Likely pathogenic 18145 rs63751399 14:73637755-73637755 14:73171047-73171047
38 PSEN1 NM_000021.4(PSEN1):c.635C>A (p.Ser212Tyr) SNV Likely pathogenic 586386 rs1555355250 14:73659438-73659438 14:73192730-73192730
39 PSEN1 NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr) SNV Likely pathogenic 98065 rs63749836 14:73659494-73659494 14:73192786-73192786
40 PSEN1 NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) SNV Likely pathogenic 18136 rs63751223 14:73685869-73685869 14:73219161-73219161
41 PSEN1 NM_000021.4(PSEN1):c.626G>A (p.Gly209Glu) SNV Likely pathogenic 663536 rs63750053 14:73659429-73659429 14:73192721-73192721
42 SQSTM1 NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) SNV Likely pathogenic 8108 rs104893941 5:179263445-179263445 5:179836445-179836445
43 CHMP2B NM_014043.4(CHMP2B):c.311C>A (p.Thr104Asn) SNV Conflicting interpretations of pathogenicity 35472 rs281864934 3:87295048-87295048 3:87245898-87245898
44 SQSTM1 NM_003900.5(SQSTM1):c.711_713GAA[1] (p.Lys238del) Microsatellite Uncertain significance 202213 rs796052214 5:179252183-179252185 5:179825183-179825185
45 CHMP2B NM_014043.4(CHMP2B):c.*602T>G SNV Uncertain significance 346812 rs886058908 3:87303574-87303574 3:87254424-87254424
46 CHMP2B NM_014043.4(CHMP2B):c.*1422G>A SNV Uncertain significance 346823 rs572323799 3:87304394-87304394 3:87255244-87255244
47 CHMP2B NM_014043.4(CHMP2B):c.*968G>A SNV Uncertain significance 346817 rs886058910 3:87303940-87303940 3:87254790-87254790
48 CHMP2B NM_014043.4(CHMP2B):c.-205C>T SNV Uncertain significance 346800 rs556556377 3:87276468-87276468 3:87227318-87227318
49 CHMP2B NM_014043.4(CHMP2B):c.-38C>T SNV Uncertain significance 346803 rs886058905 3:87276635-87276635 3:87227485-87227485
50 MAPT NM_005910.5(MAPT):c.374-3613del Deletion Uncertain significance 225409 rs773149360 17:44060789-44060789 17:45983423-45983423

UniProtKB/Swiss-Prot genetic disease variations for Pick Disease of Brain:

73
# Symbol AA change Variation ID SNP ID
1 MAPT p.Lys574Thr VAR_010344 rs63750129
2 MAPT p.Gly706Arg VAR_010352 rs63750512
3 MAPT p.Ser637Phe VAR_019665 rs63750635
4 MAPT p.Lys686Ile VAR_019668 rs63751264

Expression for Pick Disease of Brain

Search GEO for disease gene expression data for Pick Disease of Brain.

Pathways for Pick Disease of Brain

GO Terms for Pick Disease of Brain

Cellular components related to Pick Disease of Brain according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.47 VCP TARDBP SQSTM1 SNCA RPS27A PSEN1
2 nucleus GO:0005634 10.46 VCP TARDBP SQSTM1 SNCA RPS27A PSEN1
3 extracellular exosome GO:0070062 10.21 VCP SQSTM1 RPS27A GRN CLU CHMP2B
4 Golgi apparatus GO:0005794 10.13 SNCA PSEN1 HTT GRN CLU APP
5 extracellular space GO:0005615 10.07 SNCA RPS27A GRN CLU CHGA CD59
6 synapse GO:0045202 10.04 VCP SNCA PSEN1 CLU CHAT APP
7 cell surface GO:0009986 10.03 PSEN1 CLU CD59 APP ACHE
8 extracellular region GO:0005576 10.03 VCP TREM2 SNCA MAPT GRN CLU
9 cytoplasmic vesicle GO:0031410 10.02 SQSTM1 PSEN1 HTT CLU CHGA C9orf72
10 dendrite GO:0030425 9.98 PSEN1 MAPT HTT C9orf72 APOE
11 neuron projection GO:0043005 9.97 PSEN1 MAPT CHAT C9orf72 APP
12 early endosome GO:0005769 9.93 PSEN1 HTT APP APOE
13 lysosome GO:0005764 9.93 TMEM106B SQSTM1 SNCA GRN CHMP2B C9orf72
14 axon GO:0030424 9.88 SNCA PSEN1 MAPT HTT C9orf72 APP
15 late endosome GO:0005770 9.84 SQSTM1 HTT GRN CHMP2B
16 autophagosome GO:0005776 9.78 SQSTM1 HTT C9orf72
17 cytoplasmic stress granule GO:0010494 9.77 VCP TARDBP C9orf72
18 neuromuscular junction GO:0031594 9.77 PSEN1 APP ACHE
19 perinuclear region of cytoplasm GO:0048471 9.76 VCP SNCA PSEN1 HTT CLU CHGA
20 rough endoplasmic reticulum GO:0005791 9.75 SNCA PSEN1 APP
21 growth cone GO:0030426 9.72 SNCA PSEN1 MAPT C9orf72 APP
22 ciliary rootlet GO:0035253 9.62 PSEN1 APP
23 inclusion body GO:0016234 9.61 SQSTM1 SNCA HTT
24 endosome GO:0005768 9.56 TMEM106B SQSTM1 PSEN1 HTT GRN CHMP2B
25 neurofibrillary tangle GO:0097418 9.55 MAPT CLU
26 chromaffin granule GO:0042583 9.51 CLU CHGA
27 main axon GO:0044304 8.8 MAPT C9orf72 APP

Biological processes related to Pick Disease of Brain according to GeneCards Suite gene sharing:

(show all 45)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 10.08 TREM2 SQSTM1 SNCA RPS27A PSEN1
2 apoptotic process GO:0006915 10.08 SQSTM1 SNCA PSEN1 HTT CLU APP
3 regulation of gene expression GO:0010468 9.98 TREM2 TARDBP PSEN1 APP APOE
4 regulation of apoptotic process GO:0042981 9.97 VCP TARDBP CLU APOE
5 positive regulation of protein phosphorylation GO:0001934 9.92 TREM2 SQSTM1 PSEN1 APP
6 negative regulation of gene expression GO:0010629 9.92 TARDBP PSEN1 MAPT APP APOE
7 positive regulation of apoptotic process GO:0043065 9.91 SQSTM1 SNCA RPS27A PSEN1 HTT CLU
8 cellular protein metabolic process GO:0044267 9.88 SNCA RPS27A PSEN1 APP APOE
9 macroautophagy GO:0016236 9.87 VCP SQSTM1 CHMP2B
10 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.86 VCP SNCA MAPT
11 endosomal transport GO:0016197 9.86 SQSTM1 RPS27A CHMP2B
12 negative regulation of neuron apoptotic process GO:0043524 9.85 SNCA PSEN1 GRN APOE
13 positive regulation of tumor necrosis factor production GO:0032760 9.84 PSEN1 CLU APP
14 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032436 9.82 VCP PSEN1 CLU
15 learning or memory GO:0007611 9.8 PSEN1 MAPT APP
16 autophagy GO:0006914 9.8 VCP SQSTM1 PSEN1 CHMP2B C9orf72
17 cellular response to amyloid-beta GO:1904646 9.77 TREM2 PSEN1 APP
18 negative regulation of protein phosphorylation GO:0001933 9.76 TARDBP SNCA PSEN1 C9orf72
19 positive regulation of neuron death GO:1901216 9.75 SNCA MAPT CLU
20 gene expression GO:0010467 9.71 TARDBP PSEN1 APOE
21 positive regulation of ATP biosynthetic process GO:2001171 9.69 VCP TREM2
22 neurotransmitter biosynthetic process GO:0042136 9.69 CHAT ACHE
23 positive regulation of receptor recycling GO:0001921 9.69 SNCA PSEN1
24 negative regulation of long-term synaptic potentiation GO:1900272 9.68 APP APOE
25 supramolecular fiber organization GO:0097435 9.67 SNCA MAPT
26 synapse organization GO:0050808 9.67 SNCA PSEN1 MAPT APP
27 amyloid fibril formation GO:1990000 9.66 MAPT APP
28 negative regulation of amyloid fibril formation GO:1905907 9.66 CLU APOE
29 virion assembly GO:0019068 9.65 RPS27A APOE
30 neuron projection maintenance GO:1990535 9.65 PSEN1 APP
31 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.64 PSEN1 APP
32 modulation of age-related behavioral decline GO:0090647 9.64 PSEN1 APP
33 regulation of resting membrane potential GO:0060075 9.63 TREM2 PSEN1
34 microglial cell proliferation GO:0061518 9.63 TREM2 CLU
35 positive regulation of amyloid-beta clearance GO:1900223 9.61 TREM2 APOE
36 protein import GO:0017038 9.6 CLU APOE
37 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.57 PSEN1 APP
38 microglial cell activation involved in immune response GO:0002282 9.56 TREM2 GRN
39 regulation of amyloid-beta clearance GO:1900221 9.51 CLU APOE
40 amyloid precursor protein metabolic process GO:0042982 9.5 PSEN1 APOE ACHE
41 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.49 PSEN1 APP
42 astrocyte activation GO:0048143 9.46 TREM2 PSEN1 MAPT APP
43 astrocyte activation involved in immune response GO:0002265 9.43 PSEN1 GRN APP
44 microglial cell activation GO:0001774 9.35 TREM2 SNCA MAPT CLU APP
45 positive regulation of amyloid fibril formation GO:1905908 8.92 PSEN1 CLU APP APOE

Molecular functions related to Pick Disease of Brain according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.41 VCP TREM2 TMEM106B TARDBP SQSTM1 SNCA
2 identical protein binding GO:0042802 9.81 VCP TARDBP SQSTM1 SNCA MAPT HTT
3 ubiquitin protein ligase binding GO:0031625 9.78 VCP SQSTM1 RPS27A CLU
4 protein-containing complex binding GO:0044877 9.72 VCP TREM2 SQSTM1 CLU APOE
5 chaperone binding GO:0051087 9.63 MAPT GRN CLU
6 apolipoprotein binding GO:0034185 9.49 TREM2 MAPT
7 tau protein binding GO:0048156 9.43 SNCA CLU APOE
8 dynactin binding GO:0034452 9.4 MAPT HTT
9 growth factor receptor binding GO:0070851 9.37 PSEN1 APP
10 amyloid-beta binding GO:0001540 9.26 TREM2 CLU APOE ACHE
11 lipoprotein particle binding GO:0071813 8.8 TREM2 MAPT APOE

Sources for Pick Disease of Brain

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