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 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 Parkinson disease 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 stereotypy and dysphasia

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 405)
# Related Disease Score Top Affiliating Genes
1 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 33.5 RPS27A MAPT GRN
2 frontotemporal dementia 33.3 VCP TREM2 TMEM106B TARDBP SQSTM1 SNCA
3 supranuclear palsy, progressive, 1 33.2 VCP TREM2 TMEM106B TARDBP SNCA RPS27A
4 apraxia 31.8 PSEN1 MAPT GRN C9orf72 APOE
5 dystonia 31.6 SQSTM1 HTT GRN CHMP2B C9orf72 APOE
6 semantic dementia 31.6 TREM2 TMEM106B TARDBP RPS27A PSEN1 MAPT
7 mutism 31.6 MAPT GRN CHMP2B C9orf72
8 gaucher's disease 31.5 SNCA GRN APOE
9 corticobasal degeneration 31.4 TARDBP RPS27A MAPT
10 alzheimer disease 31.4 VCP TREM2 TARDBP SQSTM1 SNCA RPS27A
11 huntington disease 31.3 SQSTM1 SNCA RPS27A PSEN1 MAPT HTT
12 prosopagnosia 31.2 TARDBP MAPT GRN
13 progressive non-fluent aphasia 31.2 VCP TREM2 TMEM106B PSEN1 MAPT GRN
14 lateral sclerosis 31.2 VCP TARDBP SQSTM1 CHMP2B C9orf72
15 nominal aphasia 31.2 VCP TARDBP MAPT GRN CHMP2B C9orf72
16 movement disease 31.1 TARDBP SNCA MAPT HTT GRN C9orf72
17 dysgraphia 31.0 TARDBP MAPT GRN CHMP2B C9orf72
18 progressive muscular atrophy 31.0 VCP TARDBP CHMP2B C9orf72
19 agraphia 31.0 VCP TARDBP MAPT GRN C9orf72 ACHE
20 akinetic mutism 31.0 TARDBP SNCA MAPT
21 kohlschutter-tonz syndrome 31.0 PSEN1 MAPT APP
22 dementia 31.0 VCP TREM2 TMEM106B TARDBP SQSTM1 SNCA
23 binswanger's disease 31.0 MAPT CHGA APP APOE ACHE
24 normal pressure hydrocephalus 31.0 PSEN1 MAPT CLU C9orf72 APP APOE
25 hydrocephalus 31.0 PSEN1 MAPT CLU C9orf72 APP APOE
26 schizophrenia 31.0 SNCA MAPT CLU CHAT C9orf72 APP
27 vascular dementia 31.0 PSEN1 MAPT CHAT APP APOE ACHE
28 creutzfeldt-jakob disease 30.9 SNCA MAPT CLU APP APOE
29 prion disease 30.9 TARDBP SNCA PSEN1 MAPT HTT CLU
30 anosognosia 30.9 C9orf72 APOE
31 amyotrophic lateral sclerosis 1 30.9 VCP TREM2 TMEM106B TARDBP SQSTM1 SNCA
32 primary lateral sclerosis, adult, 1 30.9 SNCA MAPT
33 myopathy 30.9 VCP TARDBP SQSTM1 SNCA RPS27A MAPT
34 down syndrome 30.9 PSEN1 MAPT CHAT APP APOE ACHE
35 neuroblastoma 30.8 SNCA PSEN1 MAPT CHGA CHAT APP
36 myositis 30.8 VCP SNCA PSEN1 MAPT APP
37 parkinson disease, late-onset 30.8 VCP SQSTM1 SNCA RPS27A PSEN1 MAPT
38 frontotemporal dementia, chromosome 3-linked 30.8 VCP TARDBP MAPT GRN CHMP2B
39 olivopontocerebellar atrophy 30.7 SNCA RPS27A MAPT CHAT
40 leukoencephalopathy, hereditary diffuse, with spheroids 30.7 TREM2 SNCA RPS27A MAPT CHAT APP
41 amnestic disorder 30.7 PSEN1 MAPT CHAT APP APOE ACHE
42 multiple system atrophy 1 30.7 SQSTM1 SNCA RPS27A MAPT HTT CHAT
43 cerebral amyloid angiopathy, cst3-related 30.7 TARDBP SNCA PSEN1 MAPT CLU APP
44 amyloidosis 30.7 SNCA PSEN1 MAPT CLU APP APOE
45 dementia, lewy body 30.7 VCP TREM2 TMEM106B TARDBP SNCA RPS27A
46 aphasia 30.6 VCP TMEM106B TARDBP SNCA PSEN1 MAPT
47 motor neuron disease 30.6 VCP TARDBP SQSTM1 SNCA RPS27A MAPT
48 sleep disorder 30.6 SNCA MAPT APOE
49 tangier disease 30.5 CLU APP APOE
50 neuromuscular disease 30.4 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 stereotypy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000733
2 dysphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002357
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 dysgraphia 58 31 hallmark (90%) Very frequent (99-80%) HP:0010526
7 dyslexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0010522
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 gait disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0001288
29 hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001347
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:

56
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

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:

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 95)
# 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 Excitatory Amino Acid Antagonists Phase 4
6 Antidepressive Agents Phase 4
7 Psychotropic Drugs Phase 4
8 Serotonin Uptake Inhibitors Phase 4
9 Hypoglycemic Agents Phase 4
10 Anti-HIV Agents Phase 4
11 Cardiac Glycosides Phase 4
12 Anti-Retroviral Agents Phase 4
13 Glycoside Hydrolase Inhibitors Phase 4
14 Fluorodeoxyglucose F18 Phase 4
15 Anti-Inflammatory Agents Phase 4
16
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
17
tannic acid Approved Phase 3 1401-55-4
18
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
19
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
20
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
21
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
22 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
23
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
24
Atorvastatin Approved Phase 3 134523-00-5 60823
25
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
26 Methylprednisolone Acetate Phase 2, Phase 3
27 Antilymphocyte Serum Phase 2, Phase 3
28 Pharmaceutical Solutions Phase 2, Phase 3
29 carnitine Phase 3
30 Hypolipidemic Agents Phase 3
31 Lipid Regulating Agents Phase 3
32 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
33 Anticholesteremic Agents Phase 3
34 Antimetabolites Phase 3
35 Liver Extracts Phase 2, Phase 3
36
Galantamine Approved Phase 2 357-70-0 9651
37
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
38
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
39
Oxytocin Approved, Vet_approved Phase 2 50-56-6 53477758 439302
40
Zinc Approved, Investigational Phase 2 7440-66-6 32051
41
Lithium carbonate Approved Phase 2 554-13-2
42
Metformin Approved Phase 2 657-24-9 14219 4091
43
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
44
Busulfan Approved, Investigational Phase 2 55-98-1 2478
45
alemtuzumab Approved, Investigational Phase 2 216503-57-0
46
Cysteine Approved, Nutraceutical Phase 1, Phase 2 52-90-4 5862
47
Glycine Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 56-40-6 750
48
Betadex Experimental Phase 1, Phase 2 7585-39-9 320761
49 Histone Deacetylase Inhibitors Phase 1, Phase 2
50 Cholinesterase Inhibitors Phase 2

Interventional clinical trials:

(show top 50) (show all 175)
# 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 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
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 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
8 An Open Label Pilot Study of the Effects of Memantine Administration on FDG-PET in Frontotemporal Dementia Completed NCT00594737 Phase 3 memantine hydrochloride
9 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
10 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
11 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)
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 Open-label Evaluation of Adrabetadex in Patients With Neurologic Manifestations of Niemann-Pick Type C Disease (NPC) Recruiting NCT03643562 Phase 3 Adrabetadex
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
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 Enrolling by invitation NCT03879655 Phase 2, Phase 3 VTS-270
20 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 Not yet recruiting NCT04374136 Phase 3 AL001;Placebo
21 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
22 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
23 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
24 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
25 Impact of Emotional Mimicry and Oxytocin on Frontotemporal Dementia Completed NCT01937013 Phase 2 Intranasal oxytocin;Saline Nasal Mist
26 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
27 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
28 Tau PET Imaging With 18F-AV-1451 in Subjects With MAPT Mutations Completed NCT02676843 Phase 2 18F-AV-1451
29 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
30 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
31 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
32 Investigation of the Dopamine System in Frontotemporal Dementia Completed NCT00604591 Phase 2 Tolcapone;Placebo
33 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
34 A Phase II Randomized Controlled Study of Miglustat in Adult and Juvenile Patients With Niemann-Pick Type C Disease Completed NCT00517153 Phase 2 miglustat
35 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
36 Double Blind Trial of DC Polarization in FTD Completed NCT00117858 Phase 2
37 A Phase 2 Clinical Trial of Intranasal Oxytocin for Frontotemporal Dementia Recruiting NCT03260920 Phase 2 Syntocinon
38 A Single Center Feasibility Study of Intranasal Insulin in Frontotemporal Dementia NIFT-D Recruiting NCT04115384 Phase 2 Novolin-R insulin
39 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
40 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
41 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
42 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
43 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
44 Low-Dose Lithium for the Treatment of Behavioral Symptoms in Frontotemporal Dementia Recruiting NCT02862210 Phase 2 Lithium Carbonate;Placebo
45 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
46 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
47 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
48 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
49 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
50 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) Not yet recruiting NCT04408625 Phase 1, Phase 2

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, Testes, Bone, Temporal Lobe, Bone Marrow

Publications for Pick Disease of Brain

Articles related to Pick Disease of Brain:

(show top 50) (show all 1107)
# Title Authors PMID Year
1
Pick's disease is associated with mutations in the tau gene. 56 6 61 54
11117542 2000
2
Pick's disease associated with the novel Tau gene mutation K369I. 6 56 61
11601501 2001
3
Analysis of tau haplotypes in Pick's disease. 61 54 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. 61 54 56
11402147 2001
6
Structures of filaments from Pick's disease reveal a novel tau protein fold. 56 61
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. 56 61
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. 56 61
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. 56 61
3689054 1987
19
Hereditary dysphasic dementia and the Pick-Alzheimer spectrum. 61 56
6497355 1984
20
Classic and generalized variants of Pick's disease: a clinicopathological, ultrastructural, and immunocytochemical comparative study. 56 61
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. 56 61
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
CHMP2B Frontotemporal Dementia 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 – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 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. 61 54
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)]. 61 54
19535823 2009
47
Association between a genetic variant of the alpha-7 nicotinic acetylcholine receptor subunit and four types of dementia. 61 54
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 top 50) (show all 56) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PSEN1 NM_000021.4(PSEN1):c.869-2A>TSNV Pathogenic 579680 rs1566650594 14:73673092-73673092 14:73206384-73206384
2 PSEN1 NM_000021.4(PSEN1):c.347C>A (p.Thr116Asn)SNV Pathogenic 659639 14:73640282-73640282 14:73173574-73173574
3 MAPT NM_016835.4(MAPT):c.1721A>C (p.Lys574Thr)SNV Pathogenic 14259 rs63750129 17:44073978-44073978 17:45996612-45996612
4 MAPT NM_016835.4(MAPT):c.2057A>T (p.Lys686Ile)SNV Pathogenic 14260 rs63751264 17:44096092-44096092 17:46018726-46018726
5 MAPT NM_016835.4(MAPT):c.1910C>T (p.Ser637Phe)SNV Pathogenic 14262 rs63750635 17:44091652-44091652 17:46014286-46014286
6 PSEN1 NM_000021.4(PSEN1):c.488A>G (p.His163Arg)SNV Pathogenic 18124 rs63750590 14:73653568-73653568 14:73186860-73186860
7 PSEN1 NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu)SNV Pathogenic 18125 rs63750526 14:73659540-73659540 14:73192832-73192832
8 PSEN1 NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr)SNV Pathogenic 18127 rs661 14:73683933-73683933 14:73217225-73217225
9 PSEN1 NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala)SNV Pathogenic 18131 rs63750231 14:73664808-73664808 14:73198100-73198100
10 MAPT NM_016835.4(MAPT):c.1853C>T (p.Pro618Leu)SNV Pathogenic 14245 rs63751273 17:44087755-44087755 17:46010389-46010389
11 MAPT NM_016835.4(MAPT):c.2167C>T (p.Arg723Trp)SNV Pathogenic 14247 rs63750424 17:44101427-44101427 17:46024061-46024061
12 MAPT NM_016835.4(MAPT):c.1788T>G (p.Asn596Lys)SNV Pathogenic 14253 rs63750756 17:44087690-44087690 17:46010324-46010324
13 PSEN1 NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala)SNV Pathogenic 18143 rs63750082 14:73659420-73659420 14:73192712-73192712
14 PSEN1 NM_000021.4(PSEN1):c.548G>T (p.Gly183Val)SNV Pathogenic 18149 rs63751068 14:73653628-73653628 14:73186920-73186920
15 PSEN1 NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu)SNV Pathogenic 18155 rs63750083 14:73685885-73685885 14:73219177-73219177
16 PSEN1 NM_000021.4(PSEN1):c.1254G>C (p.Leu418Phe)SNV Pathogenic 845851 14:73685847-73685847 14:73219139-73219139
17 PSEN1 NM_000021.4(PSEN1):c.236C>T (p.Ala79Val)SNV Pathogenic 18157 rs63749824 14:73637653-73637653 14:73170945-73170945
18 PSEN1 NM_000021.4(PSEN1):c.806G>A (p.Arg269His)SNV Pathogenic 38297 rs63750900 14:73664775-73664775 14:73198067-73198067
19 PSEN1 NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys)SNV Pathogenic 98015 rs63750450 14:73640279-73640279 14:73173571-73173571
20 PSEN1 NM_000021.4(PSEN1):c.428T>C (p.Ile143Thr)SNV Pathogenic 98026 rs63750004 14:73640363-73640363 14:73173655-73173655
21 PSEN1 NM_000021.4(PSEN1):c.626G>T (p.Gly209Val)SNV Pathogenic 98053 rs63750053 14:73659429-73659429 14:73192721-73192721
22 PSEN1 NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser)SNV Pathogenic/Likely pathogenic 98022 rs63751278 14:73640339-73640339 14:73173631-73173631
23 PSEN1 NM_000021.4(PSEN1):c.697A>G (p.Met233Val)SNV Pathogenic/Likely pathogenic 21028 rs63751287 14:73659500-73659500 14:73192792-73192792
24 PSEN1 NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr)SNV Likely pathogenic 98065 rs63749836 14:73659494-73659494 14:73192786-73192786
25 MAPT NM_016835.4(MAPT):c.2116G>A (p.Gly706Arg)SNV Likely pathogenic 14255 rs63750512 17:44101376-44101376 17:46024010-46024010
26 PSEN1 NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro)SNV Likely pathogenic 18136 rs63751223 14:73685869-73685869 14:73219161-73219161
27 PSEN1 NM_000021.4(PSEN1):c.635C>A (p.Ser212Tyr)SNV Likely pathogenic 586386 rs1555355250 14:73659438-73659438 14:73192730-73192730
28 PSEN1 NM_000021.4(PSEN1):c.626G>A (p.Gly209Glu)SNV Likely pathogenic 663536 14:73659429-73659429 14:73192721-73192721
29 PSEN1 NM_000021.4(PSEN1):c.792G>T (p.Pro264=)SNV Conflicting interpretations of pathogenicity 723135 14:73664761-73664761 14:73198053-73198053
30 PSEN1 NM_000021.4(PSEN1):c.998A>G (p.Asp333Gly)SNV Conflicting interpretations of pathogenicity 18156 rs121917809 14:73678519-73678519 14:73211811-73211811
31 PSEN1 NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr)SNV Conflicting interpretations of pathogenicity 98109 rs63750227 14:73683929-73683929 14:73217221-73217221
32 PSEN1 NM_000021.4(PSEN1):c.1017A>G (p.Glu339=)SNV Conflicting interpretations of pathogenicity 254713 rs201776669 14:73678538-73678538 14:73211830-73211830
33 PSEN1 NM_000021.4(PSEN1):c.654A>G (p.Pro218=)SNV Conflicting interpretations of pathogenicity 313947 rs115760359 14:73659457-73659457 14:73192749-73192749
34 PSEN1 NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln)SNV Conflicting interpretations of pathogenicity 98004 rs63750592 14:73637521-73637521 14:73170813-73170813
35 PSEN1 NM_000021.4(PSEN1):c.1002C>T (p.Gly334=)SNV Conflicting interpretations of pathogenicity 313948 rs116640707 14:73678523-73678523 14:73211815-73211815
36 PSEN1 NM_000021.4(PSEN1):c.1319C>A (p.Thr440Asn)SNV Uncertain significance 853657 14:73685912-73685912 14:73219204-73219204
37 MAPT NM_016835.4(MAPT):c.623del (p.Gly208fs)deletion Uncertain significance 225409 rs773149360 17:44060789-44060789 17:45983423-45983423
38 PSEN1 NM_000021.4(PSEN1):c.532T>C (p.Ser178Pro)SNV Uncertain significance 98048 rs63750155 14:73653612-73653612 14:73186904-73186904
39 PSEN1 NM_000021.4(PSEN1):c.269C>G (p.Thr90Ser)SNV Uncertain significance 841495 14:73637686-73637686 14:73170978-73170978
40 PSEN1 NM_000021.4(PSEN1):c.475T>C (p.Tyr159His)SNV Uncertain significance 861139 14:73640410-73640410 14:73173702-73173702
41 PSEN1 NM_000021.4(PSEN1):c.485T>G (p.Ile162Ser)SNV Uncertain significance 863349 14:73653565-73653565 14:73186857-73186857
42 PSEN1 NM_000021.4(PSEN1):c.509C>A (p.Ser170Tyr)SNV Uncertain significance 844411 14:73653589-73653589 14:73186881-73186881
43 PSEN1 NM_000021.4(PSEN1):c.659G>A (p.Arg220Gln)SNV Uncertain significance 648949 14:73659462-73659462 14:73192754-73192754
44 PSEN1 NM_000021.4(PSEN1):c.907C>G (p.Pro303Ala)SNV Uncertain significance 645304 14:73673132-73673132 14:73206424-73206424
45 PSEN1 NM_000021.4(PSEN1):c.1078G>A (p.Ala360Thr)SNV Uncertain significance 643888 14:73678599-73678599 14:73211891-73211891
46 PSEN1 NM_000021.4(PSEN1):c.1369A>G (p.Met457Val)SNV Uncertain significance 650645 14:73685962-73685962 14:73219254-73219254
47 MAPT NM_016835.4(MAPT):c.664C>A (p.Arg222Ser)SNV Uncertain significance 638372 17:44060834-44060834 17:45983468-45983468
48 PSEN1 NM_000021.4(PSEN1):c.401T>G (p.Leu134Arg)SNV Uncertain significance 665345 14:73640336-73640336 14:73173628-73173628
49 PSEN1 NM_000021.4(PSEN1):c.622G>T (p.Val208Leu)SNV Uncertain significance 657317 14:73659425-73659425 14:73192717-73192717
50 PSEN1 NM_000021.4(PSEN1):c.1148T>G (p.Leu383Trp)SNV Uncertain significance 574947 rs1566656647 14:73683852-73683852 14:73217144-73217144

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 10.47 VCP TARDBP SQSTM1 SNCA RPS27A PSEN1
3 extracellular exosome GO:0070062 10.22 VCP SQSTM1 RPS27A GRN CLU CHMP2B
4 Golgi apparatus GO:0005794 10.14 SNCA PSEN1 HTT GRN CLU APP
5 cell GO:0005623 10.08 SNCA PSEN1 MAPT HTT GRN CHMP2B
6 synapse GO:0045202 10.07 VCP SNCA PSEN1 CLU CHAT APP
7 extracellular space GO:0005615 10.07 SNCA RPS27A GRN CLU CHGA CD59
8 cytoplasmic vesicle GO:0031410 10.05 SQSTM1 PSEN1 HTT CLU CHGA C9orf72
9 extracellular region GO:0005576 10.03 VCP TREM2 SNCA MAPT GRN CLU
10 dendrite GO:0030425 10 PSEN1 MAPT HTT C9orf72 APOE
11 neuron projection GO:0043005 9.99 PSEN1 MAPT CHAT C9orf72 APP
12 early endosome GO:0005769 9.93 PSEN1 HTT APP APOE
13 axon GO:0030424 9.91 SNCA PSEN1 MAPT HTT C9orf72 APP
14 lysosome GO:0005764 9.88 TMEM106B SQSTM1 SNCA GRN CHMP2B C9orf72
15 late endosome GO:0005770 9.85 SQSTM1 HTT GRN CHMP2B
16 neuromuscular junction GO:0031594 9.79 PSEN1 APP ACHE
17 autophagosome GO:0005776 9.78 SQSTM1 HTT C9orf72
18 cytoplasmic stress granule GO:0010494 9.76 VCP TARDBP C9orf72
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 inclusion body GO:0016234 9.63 SQSTM1 SNCA HTT
23 ciliary rootlet GO:0035253 9.62 PSEN1 APP
24 neurofibrillary tangle GO:0097418 9.56 MAPT CLU
25 endosome GO:0005768 9.56 TMEM106B SQSTM1 PSEN1 HTT GRN CHMP2B
26 chromaffin granule GO:0042583 9.49 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 42)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 10.08 SQSTM1 SNCA PSEN1 HTT CLU APP
2 negative regulation of apoptotic process GO:0043066 10.06 TREM2 SQSTM1 SNCA RPS27A PSEN1
3 regulation of apoptotic process GO:0042981 9.97 VCP TARDBP CLU APOE
4 negative regulation of gene expression GO:0010629 9.92 TARDBP PSEN1 MAPT APP APOE
5 positive regulation of protein phosphorylation GO:0001934 9.91 TREM2 SQSTM1 PSEN1 APP
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 9.85 VCP SQSTM1 CHMP2B
10 endosomal transport GO:0016197 9.85 SQSTM1 RPS27A CHMP2B
11 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.84 VCP SNCA MAPT
12 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032436 9.81 VCP PSEN1 CLU
13 autophagy GO:0006914 9.8 VCP SQSTM1 PSEN1 CHMP2B C9orf72
14 negative regulation of protein phosphorylation GO:0001933 9.76 TARDBP SNCA PSEN1 C9orf72
15 cellular response to amyloid-beta GO:1904646 9.75 TREM2 PSEN1 APP
16 positive regulation of neuron death GO:1901216 9.73 SNCA MAPT CLU
17 positive regulation of ATP biosynthetic process GO:2001171 9.69 VCP TREM2
18 negative regulation of amyloid-beta formation GO:1902430 9.68 CLU APOE
19 neurotransmitter biosynthetic process GO:0042136 9.68 CHAT ACHE
20 positive regulation of receptor recycling GO:0001921 9.68 SNCA PSEN1
21 synapse organization GO:0050808 9.67 SNCA PSEN1 MAPT APP
22 negative regulation of long-term synaptic potentiation GO:1900272 9.66 APP APOE
23 supramolecular fiber organization GO:0097435 9.65 SNCA MAPT
24 amyloid fibril formation GO:1990000 9.65 MAPT APP
25 virion assembly GO:0019068 9.65 RPS27A APOE
26 neuron projection maintenance GO:1990535 9.64 PSEN1 APP
27 modulation of age-related behavioral decline GO:0090647 9.63 PSEN1 APP
28 regulation of resting membrane potential GO:0060075 9.63 TREM2 PSEN1
29 positive regulation of amyloid-beta clearance GO:1900223 9.62 TREM2 APOE
30 microglial cell proliferation GO:0061518 9.62 TREM2 CLU
31 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.61 PSEN1 APP
32 negative regulation of amyloid fibril formation GO:1905907 9.59 CLU APOE
33 protein import GO:0017038 9.58 CLU APOE
34 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.55 PSEN1 APP
35 microglial cell activation involved in immune response GO:0002282 9.54 TREM2 GRN
36 regulation of amyloid-beta clearance GO:1900221 9.51 CLU APOE
37 amyloid precursor protein metabolic process GO:0042982 9.5 PSEN1 APOE ACHE
38 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.49 PSEN1 APP
39 astrocyte activation GO:0048143 9.46 TREM2 PSEN1 MAPT APP
40 astrocyte activation involved in immune response GO:0002265 9.43 PSEN1 GRN APP
41 microglial cell activation GO:0001774 9.35 TREM2 SNCA MAPT CLU APP
42 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 10.32 VCP TREM2 TMEM106B TARDBP SQSTM1 SNCA
2 ubiquitin protein ligase binding GO:0031625 9.76 VCP SQSTM1 RPS27A CLU
3 protein-containing complex binding GO:0044877 9.72 VCP TREM2 SQSTM1 CLU APOE
4 chaperone binding GO:0051087 9.65 MAPT GRN CLU
5 identical protein binding GO:0042802 9.61 VCP TARDBP SQSTM1 SNCA MAPT HTT
6 apolipoprotein binding GO:0034185 9.49 TREM2 MAPT
7 amyloid-beta binding GO:0001540 9.46 TREM2 CLU APOE ACHE
8 dynactin binding GO:0034452 9.43 MAPT HTT
9 tau protein binding GO:0048156 9.43 SNCA CLU APOE
10 growth factor receptor binding GO:0070851 9.4 PSEN1 APP
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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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