PIDB
MCID: PCK003
MIFTS: 68

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 56 12
Pick's Disease 12 52 53 29 6 15
Pick Disease 56 12 74 13 17
Pick Disease of the Brain 52 73 43 71
Dementia with Lobar Atrophy and Neuronal Cytoplasmic Inclusions 56 52 73
Lobar Atrophy of Brain 56 12 73
Behavioral Variant of Frontotemporal Dementia 52 58
Dementia in Pick's Disease 12
Lobar Atrophy of the Brain 52
Pick's Disease of Brain 39
Picks Disease 54
Bv-Ftd 58
Bvftd 52
Pidb 73

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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 frontotemporal lobar degeneration with tdp43 inclusions, grn-related and supranuclear palsy, progressive, 1, 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 Neuroscience and p75(NTR)-mediated signaling. The drugs Memantine and Citalopram have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and liver, and related phenotypes are dysphasia and stereotypy

NIH Rare Diseases : 52 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 : 56 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)

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 Pick's disease (FTD, frontotemporal dementia) is a specific pathology that is one of the causes 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 397)
# Related Disease Score Top Affiliating Genes
1 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 33.5 RPS27A MAPT GRN
2 supranuclear palsy, progressive, 1 33.1 VCP TREM2 TMEM106B TARDBP SNCA RPS27A
3 frontotemporal dementia 33.1 VCP TREM2 TMEM106B TARDBP SQSTM1 SNCA
4 apraxia 31.7 PSEN1 MAPT GRN C9orf72 APOE
5 dystonia 31.6 SQSTM1 HTT GRN CHMP2B C9orf72 APOE
6 gaucher's disease 31.6 SNCA GRN APOE
7 semantic dementia 31.6 TREM2 TMEM106B TARDBP RPS27A PSEN1 MAPT
8 aceruloplasminemia 31.5 SNCA PSEN1 MAPT HTT C9orf72 APP
9 mutism 31.5 TARDBP MAPT GRN CHMP2B C9orf72
10 corticobasal degeneration 31.4 TARDBP RPS27A MAPT
11 huntington disease 31.3 SQSTM1 SNCA RPS27A PSEN1 MAPT HTT
12 alzheimer disease 31.3 VCP TREM2 TARDBP SQSTM1 SNCA RPS27A
13 prosopagnosia 31.3 TARDBP MAPT GRN CHMP2B C9orf72
14 lateral sclerosis 31.2 VCP TARDBP SQSTM1 CHMP2B C9orf72
15 progressive non-fluent aphasia 31.2 VCP TREM2 TMEM106B PSEN1 MAPT GRN
16 nominal aphasia 31.2 VCP TARDBP MAPT GRN CHMP2B C9orf72
17 movement disease 31.0 TARDBP SNCA MAPT HTT C9orf72
18 dysgraphia 31.0 TARDBP MAPT GRN CHMP2B C9orf72
19 kohlschutter-tonz syndrome 31.0 PSEN1 MAPT APP APOE
20 progressive muscular atrophy 31.0 VCP TARDBP CHMP2B C9orf72
21 agraphia 31.0 TARDBP MAPT GRN C9orf72 ACHE
22 anosognosia 31.0 C9orf72 APOE
23 pseudobulbar palsy 31.0 TARDBP CHMP2B C9orf72
24 binswanger's disease 31.0 MAPT CHGA APP APOE ACHE
25 normal pressure hydrocephalus 31.0 PSEN1 MAPT CLU C9orf72 APP APOE
26 hydrocephalus 31.0 PSEN1 MAPT CLU C9orf72 APP APOE
27 dementia 31.0 VCP TREM2 TMEM106B TARDBP SQSTM1 SNCA
28 vascular dementia 30.9 PSEN1 MAPT CHAT APP APOE ACHE
29 creutzfeldt-jakob disease 30.9 SNCA MAPT CLU APP APOE
30 primary lateral sclerosis, adult, 1 30.9 SNCA MAPT
31 prion disease 30.9 TARDBP SNCA PSEN1 MAPT HTT CLU
32 amyotrophic lateral sclerosis 1 30.9 VCP TREM2 TMEM106B TARDBP SQSTM1 SNCA
33 down syndrome 30.8 PSEN1 MAPT CHAT APP APOE ACHE
34 neuroblastoma 30.8 SNCA PSEN1 MAPT CHGA CHAT APP
35 speech disorder 30.7 TARDBP MAPT GRN C9orf72
36 schizophrenia 30.7 SNCA MAPT CHAT C9orf72 APP APOE
37 olivopontocerebellar atrophy 30.7 SNCA RPS27A MAPT CHAT
38 myositis 30.7 VCP TARDBP SNCA PSEN1 MAPT APP
39 parkinson disease, late-onset 30.7 VCP SQSTM1 SNCA RPS27A PSEN1 MAPT
40 leukoencephalopathy, hereditary diffuse, with spheroids 30.7 SNCA RPS27A MAPT APP
41 cerebral amyloid angiopathy, cst3-related 30.7 PSEN1 MAPT CLU APP APOE
42 amnestic disorder 30.7 PSEN1 CHAT APP APOE ACHE
43 multiple system atrophy 1 30.7 SQSTM1 SNCA RPS27A MAPT HTT CHAT
44 akinetic mutism 30.7 TARDBP MAPT
45 amyloidosis 30.7 SNCA PSEN1 MAPT CLU APP APOE
46 dementia, lewy body 30.6 VCP TARDBP SNCA RPS27A PSEN1 MAPT
47 tangier disease 30.6 CLU APP APOE
48 motor neuron disease 30.6 VCP TARDBP SQSTM1 SNCA RPS27A MAPT
49 aphasia 30.6 VCP TMEM106B TARDBP SNCA PSEN1 MAPT
50 niemann-pick disease, type c1 13.0

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 46)
# 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 irritability 58 31 hallmark (90%) Very frequent (99-80%) HP:0000737
4 memory impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002354
5 thickened nuchal skin fold 58 31 hallmark (90%) Very frequent (99-80%) HP:0000474
6 poor speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0002465
7 aggressive behavior 58 31 hallmark (90%) Very frequent (99-80%) HP:0000718
8 echolalia 58 31 hallmark (90%) Very frequent (99-80%) HP:0010529
9 dyslexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0010522
10 dysgraphia 58 31 hallmark (90%) Very frequent (99-80%) HP:0010526
11 frontotemporal cerebral atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0006892
12 restlessness 58 31 hallmark (90%) Very frequent (99-80%) HP:0000711
13 disinhibition 58 31 hallmark (90%) Very frequent (99-80%) HP:0000734
14 personality changes 58 31 hallmark (90%) Very frequent (99-80%) HP:0000751
15 frontotemporal dementia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002145
16 loss of speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0002371
17 inappropriate behavior 58 31 hallmark (90%) Very frequent (99-80%) HP:0000719
18 dyscalculia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002442
19 perseveration 58 31 hallmark (90%) Very frequent (99-80%) HP:0030223
20 hyperorality 58 31 hallmark (90%) Very frequent (99-80%) HP:0000710
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 generalized tonic-clonic seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002069
31 psychosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000709
32 fasciculations 58 31 occasional (7.5%) Occasional (29-5%) HP:0002380
33 abnormality of extrapyramidal motor function 58 31 occasional (7.5%) Occasional (29-5%) HP:0002071
34 astrocytosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002446
35 upper motor neuron dysfunction 58 31 occasional (7.5%) Occasional (29-5%) HP:0002493
36 apathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000741
37 mutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002300
38 abulia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012671
39 behavioral abnormality 58 Very frequent (99-80%)
40 mental deterioration 58 Very frequent (99-80%)
41 polyphagia 31 HP:0002591
42 language impairment 31 HP:0002463
43 neuronal loss in central nervous system 31 HP:0002529
44 gliosis 31 HP:0002171
45 primitive reflex 31 HP:0002476
46 inappropriate laughter 31 HP:0000748

Symptoms via clinical synopsis from OMIM:

56
Neurologic Behavioral Psychiatric Manifestations:
irritability
echolalia
disinhibition
apathy
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

UMLS symptoms related to Pick Disease of Brain:


myoclonus, personality changes

MGI Mouse Phenotypes related to Pick Disease of Brain:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.42 ACHE APOE APP C9orf72 CD59 CHAT
2 behavior/neurological MP:0005386 10.4 ACHE APOE APP C9orf72 CHAT CLU
3 growth/size/body region MP:0005378 10.4 ACHE APOE APP C9orf72 CHAT CHGA
4 cellular MP:0005384 10.35 APOE APP C9orf72 CD59 GRN HTT
5 mortality/aging MP:0010768 10.34 ACHE APOE APP C9orf72 CD59 CHAT
6 cardiovascular system MP:0005385 10.33 APOE APP C9orf72 CHAT CHGA CLU
7 hematopoietic system MP:0005397 10.32 ACHE APOE APP C9orf72 CD59 GRN
8 nervous system MP:0003631 10.3 ACHE APOE APP C9orf72 CHAT CHGA
9 immune system MP:0005387 10.29 APOE APP C9orf72 CLU GRN HTT
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 9.9 ACHE APOE APP CD59 CHAT CHGA
14 renal/urinary system MP:0005367 9.86 APOE CD59 CHGA CLU GRN MAPT
15 skeleton MP:0005390 9.61 APOE CHAT HTT PSEN1 SNCA SQSTM1
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 105)
# 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
1-Deoxynojirimycin Investigational Phase 4 19130-96-2 1374
6 Excitatory Amino Acid Antagonists Phase 4
7 Excitatory Amino Acids Phase 4
8 Psychotropic Drugs Phase 4
9 Antidepressive Agents Phase 4
10 Serotonin Uptake Inhibitors Phase 4
11 Serotonin Agents Phase 4
12 Fluorodeoxyglucose F18 Phase 4
13 Anti-Inflammatory Agents Phase 4
14 Hypoglycemic Agents Phase 4
15 Anti-Retroviral Agents Phase 4
16 Cardiac Glycosides Phase 4
17 Glycoside Hydrolase Inhibitors Phase 4
18 Anti-HIV Agents Phase 4
19
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
20
tannic acid Approved Phase 3 1401-55-4
21
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
22
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
23
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
24
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
25 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
26
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
27
Atorvastatin Approved Phase 3 134523-00-5 60823
28
Methylene blue Approved, Investigational Phase 3 61-73-4
29
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
30 Methylprednisolone Acetate Phase 2, Phase 3
31 Antilymphocyte Serum Phase 2, Phase 3
32 Pharmaceutical Solutions Phase 2, Phase 3
33 Hypolipidemic Agents Phase 3
34 Anticholesteremic Agents Phase 3
35 carnitine Phase 3
36 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
37 Antimetabolites Phase 3
38 Lipid Regulating Agents Phase 3
39 Liver Extracts Phase 2, Phase 3
40
Galantamine Approved Phase 2 357-70-0 9651
41
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
42
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
43
Oxytocin Approved, Vet_approved Phase 2 50-56-6 439302 53477758
44
Zinc Approved, Investigational Phase 2 7440-66-6 32051
45
Lithium carbonate Approved Phase 2 554-13-2
46
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
47
Busulfan Approved, Investigational Phase 2 55-98-1 2478
48
alemtuzumab Approved, Investigational Phase 2 216503-57-0
49
Cysteine Approved, Nutraceutical Phase 1, Phase 2 52-90-4 5862
50
Glycine Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 56-40-6 750

Interventional clinical trials:

(show top 50) (show all 165)
# 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 Longitudinal Multi-Modality Imaging in Progressive Apraxia of Speech Recruiting NCT01818661 Phase 4 AV-1451
4 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)
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 Not yet recruiting NCT03910621 Phase 4 Miglustat
6 A Training and Fidelity Model to Move and Scale Evidence-based Dementia Care and Caregiver Support Programs Into Practice: The Case for COPE in PACE Service Settings Not yet recruiting NCT04165213 Phase 4
7 Amantadine for the Treatment of Behavioral Disturbance in Frontotemporal Dementia (FTD) Withdrawn NCT00127114 Phase 4 Amantadine;Placebo
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 An Open Label Pilot Study of the Effects of Memantine Administration on FDG-PET in Frontotemporal Dementia Completed NCT00594737 Phase 3 memantine hydrochloride
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 An Open Label, Multicenter, Dose Escalation Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of SBC-102 (Sebelipase Alfa) in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency Completed NCT01371825 Phase 2, Phase 3 Sebelipase alfa (SBC-102)
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 Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs Diseases Recruiting NCT03822013 Phase 3 Miglustat
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;Sham Procedure Control
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 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
18 Estudio clínico Fase III Para Evaluar la Eficacia terapéutica en Pacientes Mexicanos Con Dislipidemia Mediante el Uso vía Oral de L-Carnitina + Atorvastatina Comparado Con Atorvastatina Active, not recruiting NCT03696940 Phase 3 L-Carnitine 500Mg Oral Tablet + Atorvastatin 10 mg;Atorvastatin 10mg
19 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 Not yet recruiting NCT03879655 Phase 2, Phase 3 VTS-270
20 An Open-Label, Extension Study of the Effects of TRx0237 in Subjects With Alzheimer's Disease or Behavioral Variant Frontotemporal Dementia (bvFTD) Terminated NCT02245568 Phase 3 TRx0237
21 A Phase III Trial of ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transplantation (UCBT) in Patients With Inborn Errors of Metabolism Terminated NCT00654433 Phase 3
22 An Open Label Multicenter Extension Study to Evaluate the Long-term Efficacy and Safety of SBC-102 in Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 Terminated NCT01473875 Phase 2, Phase 3 SBC-102
23 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
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 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
27 Tau PET Imaging With 18F-AV-1451 in Subjects With MAPT Mutations Completed NCT02676843 Phase 2 18F-AV-1451
28 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
29 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
30 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
31 Investigation of the Dopamine System in Frontotemporal Dementia Completed NCT00604591 Phase 2 Tolcapone;Placebo
32 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
33 A Phase II Randomized Controlled Study of Miglustat in Adult and Juvenile Patients With Niemann-Pick Type C Disease Completed NCT00517153 Phase 2 miglustat
34 Double Blind Trial of DC Polarization in FTD Completed NCT00117858 Phase 2
35 A Phase 2 Clinical Trial of Intranasal Oxytocin for Frontotemporal Dementia Recruiting NCT03260920 Phase 2 Syntocinon
36 A Single Center Feasibility Study of Intranasal Insulin in Frontotemporal Dementia NIFT-D Recruiting NCT04115384 Phase 2 Novolin-R insulin
37 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
38 Effects of N-Acetyl-L-Leucine on Niemann Pick Type C Disease: A Multinational, Multicenter, Open-label, Rater-blinded Phase II Study. Recruiting NCT03759639 Phase 2 IB1001
39 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
40 Phase 1/2a Study of 2-Hydroxypropyl-Beta-Cyclodextrin Therapy for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C Recruiting NCT03471143 Phase 1, Phase 2 2-Hydroxypropyl-Beta-Cyclodextrin
41 Low-Dose Lithium for the Treatment of Behavioral Symptoms in Frontotemporal Dementia Recruiting NCT02862210 Phase 2 Lithium Carbonate;Placebo
42 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 Recruiting NCT02912793 Phase 1, Phase 2 Hydroxypropyl-beta-cyclodextrin
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 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 Active, not recruiting NCT02292654 Phase 1, Phase 2 Olipudase alfa
46 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 Not yet recruiting NCT03687476 Phase 2 VTS-270
47 Treating Primary Progressive Aphasia (PPA) and Elucidating Neurodegeneration in the Language Network Using Transcranial Direct Current Stimulation (tDCS) Not yet recruiting NCT04046991 Phase 2
48 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
49 A Phase 2, Open Label, Multicenter Study to Evaluate the Safety, Tolerability, Efficacy, and Pharmacokinetics of Sebelipase Alfa in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency Terminated NCT02193867 Phase 2 Sebelipase Alfa
50 F 18 T807 Tau PET Imaging of Frontotemporal Dementia Withdrawn NCT02707978 Phase 2 F 18 T807

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, Bone, Liver, Cortex, Lung, Testes, Bone Marrow

Publications for Pick Disease of Brain

Articles related to Pick Disease of Brain:

(show top 50) (show all 1095)
# Title Authors PMID Year
1
Pick's disease is associated with mutations in the tau gene. 54 61 56 6
11117542 2000
2
Pick's disease associated with the novel Tau gene mutation K369I. 61 56 6
11601501 2001
3
Analysis of tau haplotypes in Pick's disease. 54 61 56
12177383 2002
4
A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease. 54 61 6
11891833 2002
5
Transgenic mouse models of tauopathies: prospects for animal models of Pick's disease. 54 61 56
11402147 2001
6
Structures of filaments from Pick's disease reveal a novel tau protein fold. 61 56
30158706 2018
7
A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. 61 56
15122701 2004
8
Pick Complex: an integrative approach to frontotemporal dementia: primary progressive aphasia, corticobasal degeneration, and progressive supranuclear palsy. 61 56
14629785 2003
9
Sporadic Pick's disease: a tauopathy characterized by a spectrum of pathological tau isoforms in gray and white matter. 61 56
12112079 2002
10
Neuropathology of Pick's disease. 61 56
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 56
9641683 1998
13
Allele epsilon 4 of apolipoprotein E shows a dose effect on age at onset of Pick disease. 54 56
7498406 1995
14
Pick's disease immunohistochemistry: new alterations and Alzheimer's disease comparisons. 61 56
7610763 1995
15
Involvement of clathrin light chains in the pathology of Pick's disease; implication for impairment of axonal transport. 61 56
7533277 1994
16
Familial Pick's disease and dementia in frontal lobe degeneration of non-Alzheimer type are not variants of prion disease. 61 56
8006666 1994
17
Frontal lobe degeneration of non-Alzheimer type. I. Neuropathology. 61 56
3689053 1987
18
Frontal lobe degeneration of non-Alzheimer type. II. Clinical picture and differential diagnosis. 61 56
3689054 1987
19
Classic and generalized variants of Pick's disease: a clinicopathological, ultrastructural, and immunocytochemical comparative study. 61 56
6093681 1984
20
Hereditary dysphasic dementia and the Pick-Alzheimer spectrum. 61 56
6497355 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 56
7104662 1982
22
Re-examination of a family with Pick's disease. 61 56
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. 56
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
Frontotemporal Dementia, Chromosome 3-Linked 6
20301378 2007
32
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B). 6
16807408 2006
33
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
34
CHMP2B mutations are not a common cause of frontotemporal lobar degeneration. 6
16431024 2006
35
Frameshift proteins in autosomal dominant forms of Alzheimer disease and other tauopathies. 56
16432153 2006
36
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. 6
16041373 2005
37
Loss of ubiquitin-binding associated with Paget's disease of bone p62 (SQSTM1) mutations. 6
15765181 2005
38
Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone. 6
11992264 2002
39
Amyotrophic Lateral Sclerosis Overview 6
20301623 2001
40
MAPT-Related Disorders 6
20301678 2000
41
Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein. 6
9450754 1998
42
Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: a genetic and clinicopathological study of three Dutch families. 56
9029063 1997
43
Phosphorylation of soluble tau differs in Pick's disease and Alzheimer's disease brains. 54 61
19693433 2009
44
Cytoplasmic inclusions of TDP-43 in neurodegenerative diseases: a potential role for caspases. 54 61
19554515 2009
45
Transmission and spreading of tauopathy in transgenic mouse brain. 54 61
19503072 2009
46
[The genetics of dementias. Part 1: Molecular basis of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)]. 54 61
19535823 2009
47
Association between a genetic variant of the alpha-7 nicotinic acetylcholine receptor subunit and four types of dementia. 54 61
19641318 2009
48
Tau oligomerization: a role for tau aggregation intermediates linked to neurodegeneration. 54 61
19075586 2008
49
Ultrastructural localization of TDP-43 in filamentous neuronal inclusions in various neurodegenerative diseases. 54 61
18607609 2008
50
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

Variations for Pick Disease of Brain

ClinVar genetic disease variations for Pick Disease of Brain:

6 (show all 40) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MAPT NM_016835.4(MAPT):c.1721A>C (p.Lys574Thr)SNV Pathogenic 14259 rs63750129 17:44073978-44073978 17:45996612-45996612
2 MAPT NM_016835.4(MAPT):c.2057A>T (p.Lys686Ile)SNV Pathogenic 14260 rs63751264 17:44096092-44096092 17:46018726-46018726
3 MAPT NM_016835.4(MAPT):c.1910C>T (p.Ser637Phe)SNV Pathogenic 14262 rs63750635 17:44091652-44091652 17:46014286-46014286
4 PSEN1 NM_000021.4(PSEN1):c.488A>G (p.His163Arg)SNV Pathogenic 18124 rs63750590 14:73653568-73653568 14:73186860-73186860
5 PSEN1 NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu)SNV Pathogenic 18125 rs63750526 14:73659540-73659540 14:73192832-73192832
6 PSEN1 NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr)SNV Pathogenic 18127 rs661 14:73683933-73683933 14:73217225-73217225
7 PSEN1 NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala)SNV Pathogenic 18131 rs63750231 14:73664808-73664808 14:73198100-73198100
8 MAPT NM_016835.4(MAPT):c.1853C>T (p.Pro618Leu)SNV Pathogenic 14245 rs63751273 17:44087755-44087755 17:46010389-46010389
9 MAPT NM_016835.4(MAPT):c.2167C>T (p.Arg723Trp)SNV Pathogenic 14247 rs63750424 17:44101427-44101427 17:46024061-46024061
10 MAPT NM_016835.4(MAPT):c.1788T>G (p.Asn596Lys)SNV Pathogenic 14253 rs63750756 17:44087690-44087690 17:46010324-46010324
11 PSEN1 NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala)SNV Pathogenic 18143 rs63750082 14:73659420-73659420 14:73192712-73192712
12 PSEN1 NM_000021.4(PSEN1):c.548G>T (p.Gly183Val)SNV Pathogenic 18149 rs63751068 14:73653628-73653628 14:73186920-73186920
13 PSEN1 NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu)SNV Pathogenic 18155 rs63750083 14:73685885-73685885 14:73219177-73219177
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.806G>A (p.Arg269His)SNV Pathogenic 38297 rs63750900 14:73664775-73664775 14:73198067-73198067
16 PSEN1 NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys)SNV Pathogenic 98015 rs63750450 14:73640279-73640279 14:73173571-73173571
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.869-2A>TSNV Pathogenic 579680 rs1566650594 14:73673092-73673092 14:73206384-73206384
19 PSEN1 NM_000021.4(PSEN1):c.347C>A (p.Thr116Asn)SNV Pathogenic 659639 14:73640282-73640282 14:73173574-73173574
20 PSEN1 NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser)SNV Pathogenic/Likely pathogenic 98022 rs63751278 14:73640339-73640339 14:73173631-73173631
21 PSEN1 NM_000021.4(PSEN1):c.697A>G (p.Met233Val)SNV Pathogenic/Likely pathogenic 21028 rs63751287 14:73659500-73659500 14:73192792-73192792
22 MAPT NM_016835.4(MAPT):c.2116G>A (p.Gly706Arg)SNV Likely pathogenic 14255 rs63750512 17:44101376-44101376 17:46024010-46024010
23 PSEN1 NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro)SNV Likely pathogenic 18136 rs63751223 14:73685869-73685869 14:73219161-73219161
24 PSEN1 NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr)SNV Likely pathogenic 98065 rs63749836 14:73659494-73659494 14:73192786-73192786
25 PSEN1 NM_000021.4(PSEN1):c.626G>A (p.Gly209Glu)SNV Likely pathogenic 663536 14:73659429-73659429 14:73192721-73192721
26 PSEN1 NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr)SNV Conflicting interpretations of pathogenicity 98109 rs63750227 14:73683929-73683929 14:73217221-73217221
27 MAPT NM_016835.4(MAPT):c.890C>T (p.Ala297Val)SNV Uncertain significance 429936 rs377402921 17:44061060-44061060 17:45983694-45983694
28 MAPT NM_016835.4(MAPT):c.47G>T (p.Gly16Val)SNV Uncertain significance 548576 rs755131800 17:44039750-44039750 17:45962384-45962384
29 PSEN1 NM_000021.4(PSEN1):c.532T>C (p.Ser178Pro)SNV Uncertain significance 98048 rs63750155 14:73653612-73653612 14:73186904-73186904
30 PSEN1 NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln)SNV Uncertain significance 98004 rs63750592 14:73637521-73637521 14:73170813-73170813
31 PSEN1 NM_000021.4(PSEN1):c.659G>A (p.Arg220Gln)SNV Uncertain significance 648949 14:73659462-73659462 14:73192754-73192754
32 PSEN1 NM_000021.4(PSEN1):c.907C>G (p.Pro303Ala)SNV Uncertain significance 645304 14:73673132-73673132 14:73206424-73206424
33 PSEN1 NM_000021.4(PSEN1):c.1078G>A (p.Ala360Thr)SNV Uncertain significance 643888 14:73678599-73678599 14:73211891-73211891
34 PSEN1 NM_000021.4(PSEN1):c.1369A>G (p.Met457Val)SNV Uncertain significance 650645 14:73685962-73685962 14:73219254-73219254
35 PSEN1 NM_000021.4(PSEN1):c.401T>G (p.Leu134Arg)SNV Uncertain significance 665345 14:73640336-73640336 14:73173628-73173628
36 PSEN1 NM_000021.4(PSEN1):c.622G>T (p.Val208Leu)SNV Uncertain significance 657317 14:73659425-73659425 14:73192717-73192717
37 PSEN1 NM_000021.4(PSEN1):c.1148T>G (p.Leu383Trp)SNV Uncertain significance 574947 rs1566656647 14:73683852-73683852 14:73217144-73217144
38 MAPT NM_016835.4(MAPT):c.664C>A (p.Arg222Ser)SNV Uncertain significance 638372 17:44060834-44060834 17:45983468-45983468
39 MAPT NM_016835.4(MAPT):c.623del (p.Gly208fs)deletion Uncertain significance 225409 rs773149360 17:44060789-44060789 17:45983423-45983423
40 PSEN1 NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly)SNV Benign/Likely benign 98094 rs17125721 14:73673178-73673178 14:73206470-73206470

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 29)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.47 VCP TARDBP SQSTM1 SNCA RPS27A PSEN1
2 cytoplasm GO:0005737 10.47 VCP TARDBP SQSTM1 SNCA RPS27A PSEN1
3 extracellular exosome GO:0070062 10.22 VCP SQSTM1 RPS27A GRN CLU CHMP2B
4 endoplasmic reticulum GO:0005783 10.19 VCP SQSTM1 PSEN1 HTT GRN CLU
5 Golgi apparatus GO:0005794 10.13 SNCA PSEN1 HTT GRN CLU APP
6 cell GO:0005623 10.11 SNCA PSEN1 MAPT HTT GRN CHMP2B
7 extracellular space GO:0005615 10.07 SNCA RPS27A GRN CLU CHGA CD59
8 synapse GO:0045202 10.05 VCP SNCA PSEN1 CLU APP ACHE
9 cytoplasmic vesicle GO:0031410 10.02 SQSTM1 PSEN1 HTT CLU CHGA C9orf72
10 dendrite GO:0030425 10 PSEN1 MAPT HTT C9orf72 APOE
11 neuron projection GO:0043005 9.96 PSEN1 MAPT CHAT C9orf72 APP
12 endosome GO:0005768 9.95 TMEM106B SQSTM1 PSEN1 GRN CHMP2B C9orf72
13 early endosome GO:0005769 9.93 PSEN1 HTT APP APOE
14 extracellular region GO:0005576 9.93 VCP TREM2 SNCA MAPT GRN CLU
15 axon GO:0030424 9.91 SNCA PSEN1 MAPT HTT C9orf72 APP
16 late endosome GO:0005770 9.84 SQSTM1 HTT GRN CHMP2B
17 lysosome GO:0005764 9.8 TMEM106B SQSTM1 SNCA GRN CHMP2B C9orf72
18 neuromuscular junction GO:0031594 9.79 PSEN1 APP ACHE
19 autophagosome GO:0005776 9.77 SQSTM1 HTT C9orf72
20 rough endoplasmic reticulum GO:0005791 9.77 SNCA PSEN1 APP
21 cytoplasmic stress granule GO:0010494 9.76 VCP TARDBP C9orf72
22 growth cone GO:0030426 9.65 SNCA PSEN1 MAPT C9orf72 APP
23 synaptic cleft GO:0043083 9.64 APOE ACHE
24 inclusion body GO:0016234 9.63 SQSTM1 SNCA HTT
25 ciliary rootlet GO:0035253 9.62 PSEN1 APP
26 perinuclear region of cytoplasm GO:0048471 9.56 VCP SNCA PSEN1 HTT CLU CHGA
27 neurofibrillary tangle GO:0097418 9.55 MAPT CLU
28 chromaffin granule GO:0042583 9.49 CLU CHGA
29 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 46)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 10.09 SQSTM1 SNCA PSEN1 HTT CLU APP
2 negative regulation of apoptotic process GO:0043066 10.08 TREM2 SQSTM1 SNCA RPS27A PSEN1
3 regulation of gene expression GO:0010468 9.96 TREM2 PSEN1 APP APOE
4 positive regulation of protein phosphorylation GO:0001934 9.91 TREM2 SQSTM1 PSEN1 APP
5 negative regulation of gene expression GO:0010629 9.91 TARDBP PSEN1 MAPT APP APOE
6 positive regulation of apoptotic process GO:0043065 9.91 SQSTM1 SNCA RPS27A PSEN1 HTT CLU
7 cellular protein metabolic process GO:0044267 9.88 SNCA RPS27A PSEN1 APP APOE
8 negative regulation of neuron apoptotic process GO:0043524 9.87 SNCA PSEN1 GRN APOE
9 macroautophagy GO:0016236 9.86 VCP SQSTM1 CHMP2B
10 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.84 VCP SNCA MAPT
11 endosomal transport GO:0016197 9.83 SQSTM1 RPS27A CHMP2B
12 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032436 9.82 VCP PSEN1 CLU
13 negative regulation of neuron death GO:1901215 9.8 SNCA CHGA APOE
14 autophagy GO:0006914 9.8 VCP SQSTM1 PSEN1 CHMP2B C9orf72
15 negative regulation of protein phosphorylation GO:0001933 9.76 TARDBP SNCA PSEN1 C9orf72
16 cellular response to amyloid-beta GO:1904646 9.75 TREM2 PSEN1 APP
17 positive regulation of neuron death GO:1901216 9.71 SNCA MAPT CLU
18 positive regulation of amyloid-beta formation GO:1902004 9.7 CLU APP
19 reverse cholesterol transport GO:0043691 9.7 CLU APOE
20 stress granule assembly GO:0034063 9.69 MAPT C9orf72
21 positive regulation of receptor recycling GO:0001921 9.69 SNCA PSEN1
22 neurotransmitter biosynthetic process GO:0042136 9.68 CHAT ACHE
23 positive regulation of ATP biosynthetic process GO:2001171 9.68 VCP TREM2
24 negative regulation of amyloid-beta formation GO:1902430 9.68 CLU APOE
25 negative regulation of long-term synaptic potentiation GO:1900272 9.67 APP APOE
26 supramolecular fiber organization GO:0097435 9.67 SNCA MAPT
27 amyloid fibril formation GO:1990000 9.66 MAPT APP
28 virion assembly GO:0019068 9.66 RPS27A APOE
29 neuron projection maintenance GO:1990535 9.65 PSEN1 APP
30 modulation of age-related behavioral decline GO:0090647 9.64 PSEN1 APP
31 regulation of resting membrane potential GO:0060075 9.63 TREM2 PSEN1
32 positive regulation of amyloid-beta clearance GO:1900223 9.62 TREM2 APOE
33 microglial cell proliferation GO:0061518 9.62 TREM2 CLU
34 synapse organization GO:0050808 9.62 SNCA PSEN1 MAPT APP
35 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.6 PSEN1 APP
36 negative regulation of amyloid fibril formation GO:1905907 9.59 CLU APOE
37 protein import GO:0017038 9.58 CLU APOE
38 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.56 PSEN1 APP
39 microglial cell activation involved in immune response GO:0002282 9.55 TREM2 GRN
40 amyloid precursor protein metabolic process GO:0042982 9.54 PSEN1 APOE ACHE
41 regulation of amyloid-beta clearance GO:1900221 9.52 CLU APOE
42 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.49 PSEN1 APP
43 astrocyte activation GO:0048143 9.46 TREM2 PSEN1 MAPT APP
44 astrocyte activation involved in immune response GO:0002265 9.43 PSEN1 GRN APP
45 microglial cell activation GO:0001774 9.35 TREM2 SNCA MAPT CLU APP
46 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 10.28 VCP TREM2 TMEM106B TARDBP SQSTM1 SNCA
2 protein-containing complex binding GO:0044877 9.76 VCP TREM2 CLU APOE
3 ubiquitin protein ligase binding GO:0031625 9.71 VCP SQSTM1 RPS27A CLU
4 phospholipid binding GO:0005543 9.65 TREM2 SNCA APOE
5 chaperone binding GO:0051087 9.61 MAPT GRN CLU
6 identical protein binding GO:0042802 9.61 VCP TARDBP SQSTM1 SNCA MAPT HTT
7 apolipoprotein binding GO:0034185 9.49 TREM2 MAPT
8 amyloid-beta binding GO:0001540 9.46 TREM2 CLU APOE ACHE
9 tau protein binding GO:0048156 9.43 SNCA CLU APOE
10 dynactin binding GO:0034452 9.37 MAPT HTT
11 lipoprotein particle binding GO:0071813 8.8 TREM2 MAPT APOE

Sources for Pick Disease of Brain

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