MCID: PCK002
MIFTS: 68

Pick Disease

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

Aliases & Classifications for Pick Disease

MalaCards integrated aliases for Pick Disease:

Name: Pick Disease 54 12 24 13
Pick's Disease 12 50 51 29 14
Pick Disease of the Brain 50 71 42 69
Dementia with Lobar Atrophy and Neuronal Cytoplasmic Inclusions 50 24 71
Lobar Atrophy of Brain 12 24 71
Dementia in Pick's Disease 12
Lobar Atrophy of the Brain 50
Pick Disease of Brain 12
Picks Disease 52
Pidb 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant
isolated cases

Miscellaneous:
phenotypic overlap with frontotemporal dementia


HPO:

32
pick disease:
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Pick Disease

NINDS : 51 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, also known as pick's disease, is related to niemann-pick disease and niemann-pick disease, type c1, and has symptoms including personality changes, irritability and apathy. An important gene associated with Pick Disease is MAPT (Microtubule Associated Protein Tau), and among its related pathways/superpathways are Neuroscience and Alzheimers Disease Pathway. The drugs Simvastatin and Rasagiline have been mentioned in the context of this disorder. Affiliated tissues include lung, testes and brain, and related phenotypes are behavior/neurological and growth/size/body region

NIH Rare Diseases : 50 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. last updated: 2/5/2013

OMIM : 54
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 : 71 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.

Related Diseases for Pick Disease

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

(show top 50) (show all 166)
id Related Disease Score Top Affiliating Genes
1 niemann-pick disease 12.5
2 niemann-pick disease, type c1 12.5
3 niemann-pick disease, type a 12.4
4 niemann-pick disease, type b 12.4
5 niemann-pick disease, type c2 12.3
6 niemann-pick disease type c, juvenile neurologic onset 11.8
7 niemann-pick disease type c, severe perinatal form 11.8
8 niemann-pick disease type c, late infantile neurologic onset 11.8
9 niemann-pick disease type c, severe early infantile neurologic onset 11.8
10 niemann-pick disease type c, adult neurologic onset 11.8
11 sphingolipidosis 11.0
12 limbic encephalitis with nmda receptor antibodies 10.9 NPC1 NPC2
13 congenital enterovirus infection 10.9 NPC1 NPC2
14 mucopolysaccharidosis type 2, attenuated form 10.9 NPC1 NPC2
15 mucopolysaccharidosis type 2, severe form 10.9 NPC1 NPC2
16 pulmonary fungal infections in patients deemed at risk 10.9 NPC1 NPC2
17 ataxia with vitamin e deficiency 10.9 NPC1 SMPD1
18 supranuclear palsy, progressive 10.9
19 acquired purpura fulminans 10.8 APOE MAPT
20 splenic manifestation of prolymphocytic leukemia 10.7 NPC1 NPC2 SMPD1
21 sea-blue histiocyte disease 10.7
22 dysostosis 10.7 NPC1 NPC2 SMPD1
23 pediatric supratentorial ependymoma 10.7 NPC1 NPC2 SMPD1
24 uterine corpus cancer 10.7 NPC1 NPC2 SMPD1
25 propriospinal myoclonus 10.6 MAPT PSEN1
26 ovarian small cell carcinoma 10.5 SYP TUBB3
27 simultanagnosia 10.5 PSEN1 TARDBP
28 osteochondritis dissecans 10.5 NPC1 NPC1L1 NPC2 SMPD1
29 autotopagnosia 10.5 PSEN1 TARDBP
30 limited scleroderma 10.4 APOE MAPT PSEN1
31 meckel syndrome 10 10.4 APOE MAPT PSEN1
32 cerebral arteritis 10.4 PSEN1 TARDBP
33 malignant ovarian mixed epithelial neoplasm 10.4 CHGA SYP
34 cough headache 10.4 MAPT RPS27A TARDBP
35 sparc-related osteogenesis imperfecta 10.4 MAPT SNCA
36 ampulla of vater small cell carcinoma 10.4 CHGA SYP
37 hyperekplexia, hereditary 1, autosomal dominant or recessive 10.4 MAPT RPS27A SNCA
38 basilar impression, primary 10.4 MAPT RPS27A SNCA
39 spinal cord ependymoma 10.4 CHGA SYP
40 ludwig's angina 10.4 CHGA SYP
41 signet ring cell intrahepatic cholangiocarcinoma 10.4 CHGA SYP
42 childhood choriocarcinoma of the ovary 10.4 CHGA SYP
43 osteoblastoma 10.4 CHGA SYP
44 esophagus adenocarcinoma 10.3 CHGA SYP
45 akinetic mutism 10.3 APOE PSEN1
46 basophilic carcinoma 10.3 CHGA SYP
47 cystitis cystica 10.3 CHGA SYP
48 small intestine cancer, childhood 10.3 CHGA SYP
49 adrenal gland pheochromocytoma 10.3 MAPT RPS27A SNCA
50 3mc syndrome 10.3 MAPT PSEN1 TARDBP

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



Diseases related to Pick Disease

Symptoms & Phenotypes for Pick Disease

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Behavioral Psychiatric Manifestations:
personality changes
irritability
apathy
disinhibition
hyperphagia
more
Neurologic- Central Nervous System:
astrogliosis
frontotemporal dementia
neuronal loss
language impairment
primitive reflexes (palmomental, snout, glabellar)
more

Clinical features from OMIM:

172700

Human phenotypes related to Pick Disease:

32 (show all 16)
id Description HPO Frequency HPO Source Accession
1 personality changes 32 HP:0000751
2 irritability 32 HP:0000737
3 apathy 32 HP:0000741
4 gliosis 32 HP:0002171
5 disinhibition 32 HP:0000734
6 frontotemporal dementia 32 HP:0002145
7 hyperorality 32 HP:0000710
8 language impairment 32 HP:0002463
9 polyphagia 32 HP:0002591
10 inappropriate laughter 32 HP:0000748
11 emotional blunting 32 HP:0030213
12 perseveration 32 HP:0030223
13 echolalia 32 HP:0010529
14 stereotypy 32 HP:0000733
15 neuronal loss in central nervous system 32 HP:0002529
16 primitive reflex 32 HP:0002476

UMLS symptoms related to Pick Disease:


myoclonus, personality changes

MGI Mouse Phenotypes related to Pick Disease:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.31 SQSTM1 SYP TARDBP APOE CHAT CLU
2 growth/size/body region MP:0005378 10.25 APOE CHAT CHGA MAPT NPC1 NPC1L1
3 homeostasis/metabolism MP:0005376 10.25 SQSTM1 TARDBP APOE CD59 CHAT CHGA
4 cellular MP:0005384 10.2 SMPD1 SNCA SQSTM1 TARDBP TUBB3 APOE
5 cardiovascular system MP:0005385 10.18 APOE CHAT CHGA CLU MAPT NPC1
6 mortality/aging MP:0010768 10.13 NPC1 NPC2 PSEN1 SMPD1 SNCA SQSTM1
7 immune system MP:0005387 10.07 SMPD1 SNCA SQSTM1 TARDBP APOE CLU
8 nervous system MP:0003631 10.07 APOE CHAT CLU MAPT NPC1 NPC2
9 renal/urinary system MP:0005367 9.7 APOE CD59 CHGA CLU MAPT PSEN1
10 respiratory system MP:0005388 9.56 APOE CHAT NPC1 NPC2 PCSK1N PSEN1
11 taste/olfaction MP:0005394 8.92 APOE MAPT NPC1 SNCA

Drugs & Therapeutics for Pick Disease

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

(show top 50) (show all 1526)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 4 79902-63-9 54454
2
Rasagiline Approved Phase 4 136236-51-6 3052776
3
Ticagrelor Approved Phase 4,Phase 3 274693-27-5 9871419
4
Ticlopidine Approved Phase 4,Phase 3 55142-85-3 5472
5
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4,Phase 2 67-73-2 6215
6
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
7
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
8
Timolol Approved Phase 4 26839-75-8 33624 5478
9
Travoprost Approved Phase 4 157283-68-6 5282226
10
Citalopram Approved Phase 4,Phase 3,Phase 2,Early Phase 1 59729-33-8 2771
11
Everolimus Approved Phase 4,Phase 3,Phase 2,Phase 1 159351-69-6 6442177
12
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 22916-47-8 4189
13
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
14
Zoledronic acid Approved Phase 4,Phase 2,Phase 3,Phase 1 118072-93-8 68740
15
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-78-2 2244
16
Omeprazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1 73590-58-6 4594
17
Pantoprazole Approved Phase 4,Phase 2 102625-70-7 4679
18
Bivalirudin Approved, Investigational Phase 4,Phase 2,Phase 3 128270-60-0 16129704
19
Heparin Approved, Investigational Phase 4,Phase 3,Phase 1 9005-49-6 772 46507594
20
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 128794-94-5 5281078
21
Mycophenolic acid Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 24280-93-1 446541
22
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 53-03-2 5865
23
Tacrolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 104987-11-3 445643 439492
24
Cisplatin Approved Phase 4,Phase 2,Phase 3,Phase 1 15663-27-1 84093 441203 2767
25
Gemcitabine Approved Phase 4,Phase 3,Phase 2,Phase 1 95058-81-4 60750
26
Candesartan Approved Phase 4,Phase 2,Early Phase 1 139481-59-7 2541
27
Cilnidipine Approved Phase 4 132203-70-4 5282138
28
Paclitaxel Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 33069-62-4 36314
29
Erythromycin Approved, Vet_approved Phase 4 114-07-8 12560
30
Amitriptyline Approved Phase 4,Phase 3 50-48-6 2160
31
Norepinephrine Approved Phase 4,Phase 3,Phase 2,Early Phase 1 51-41-2 439260
32
Nortriptyline Approved Phase 4,Phase 2 72-69-5 4543
33
Paroxetine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 61869-08-7 43815
34
Perphenazine Approved Phase 4,Phase 3 58-39-9 4748
35
Sertraline Approved Phase 4,Phase 2,Phase 3 79617-96-2 68617
36
Trimipramine Approved Phase 4 739-71-9 5584 4055
37
Adefovir Dipivoxil Approved, Investigational Phase 4 142340-99-6 60871
38
Telbivudine Approved, Investigational Phase 4,Phase 2,Phase 3 3424-98-4 159269
39
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 51-61-6, 62-31-7 681
40
Pramipexole Approved, Investigational Phase 4,Phase 3,Phase 1 104632-26-0 59868 119570
41
Ropinirole Approved, Investigational Phase 4,Phase 3 91374-20-8, 91374-21-9 5095 497540
42
Lactulose Approved Phase 4 4618-18-2 11333
43
Sevelamer Approved Phase 4 52757-95-6, 152751-57-0 3085017
44
Bupropion Approved Phase 4,Phase 3,Phase 2 34841-39-9, 34911-55-2 444
45
Fluoxetine Approved, Vet_approved Phase 4,Phase 3,Phase 2 54910-89-3 3386
46
Fluvoxamine Approved, Investigational Phase 4 54739-18-3 3404 5324346
47
Histamine Approved, Investigational Phase 4,Phase 2,Phase 1,Early Phase 1 75614-87-8, 51-45-6 774
48
Mianserin Approved Phase 4,Early Phase 1 24219-97-4 4184
49
Mirtazapine Approved Phase 4,Phase 2,Early Phase 1 85650-52-8, 61337-67-5 4205
50
Trazodone Approved, Investigational Phase 4,Phase 1 19794-93-5 5533

Interventional clinical trials:

(show top 50) (show all 5625)

id Name Status NCT ID Phase Drugs
1 Treatment of Mild and Subthreshold Depressive Disorders Unknown status NCT00226642 Phase 4 Sertralin;Placebo
2 Low-dose Statins and Nutraceuticals in High-intensity Statin-intolerant Patients Unknown status NCT02001883 Phase 4 Association low-dose statin and nutraceuticals
3 The Effects of Rasagiline on Cognitive Deficits Associated With Parkinson's Disease Unknown status NCT00696215 Phase 4 placebo;rasagiline
4 Safety and Efficacy of Low-dose Ticagrelor in Chinese Patients With Stable Coronary Artery Disease Unknown status NCT02514642 Phase 4 low-dose ticagrelor;Clopidogrel
5 Vitamin K2 and Vessel Calcification in Chronic Kidney Disease Patients Unknown status NCT01101698 Phase 4 Vitamin K2+10μg cholecalciferol;Vitamin D
6 Major Depressive Disorder - Understanding The Link Between The Brain And The Heart Unknown status NCT01568307 Phase 4 Participants will be prescribed an approved selective serotonin re-uptake inhibitor (SSRI) antidepressant.
7 Flucinolone Acetonide Implant for Treating Refractory Ocular Behcet's Disease Unknown status NCT00720928 Phase 4 flucinolone acetonide
8 A Study to Evaluate the Efficacy and Safety of Flexible Dose of Quetiapine Fumarate (Seroquel) Switching From Other Drugs in the Treatment of Acute Manic Patients With Bipolar Disorder Unknown status NCT00837343 Phase 4 quetiapine fumarate tablet (Seroquel)
9 The Secondary Beneficial Effects of Prostaglandin Analog Treatment in Thyroid Eye Disease Patients. Unknown status NCT01927406 Phase 4 Prostaglandin Analog;Timolol
10 Effects of Exercise Training on Systemic Inflammation an Muscle Repair According to the Obstructive Chronic Pulmonary Disease (COPD) Phenotype Unknown status NCT01431625 Phase 4
11 Effect of Fluticasone Proprionate 0.05% on Narrow Band UV-B in Active Vitiligo Unknown status NCT01246921 Phase 4 Fluticasone proprionate 0.05% cream
12 Treatment Youth With Obsessive-Compulsive Disorder Unknown status NCT00708240 Phase 4 Escitalopram
13 Prospective, Multicenter Study of the Second Generation Antimicrobial Graft in the Abdominal Position Unknown status NCT00824109 Phase 4
14 Assessment of Stent Strut Coverage and Endothelial Function After Drug-Eluting Stents Unknown status NCT01073111 Phase 4
15 The Effect of Zoledronic Acid to Bone Fusion and Bone Metabolism of Patients With Lumbar Degenerative Disease After Lumbar Interbody Fusion Unknown status NCT01310465 Phase 4 zoledronic acid;sodium chloride
16 Primary and Secondary Prevention of Human Papillomavirus (HPV) Disease in China Unknown status NCT01021904 Phase 4
17 Omeprazole and Pantoprazole Antiplatelet Effect of Clopidogrel Clinical Trials(OPEN) Unknown status NCT01735227 Phase 4 omeprazole;Pantoprazole
18 Anticoagulant Treatments and Percutaneous Coronary Angioplasty Unknown status NCT00669149 Phase 4 clopidogrel + aspirin;heparin + clopidogrel + aspirin;enoxaparin + clopidogrel + aspirin;bivalirudin + clopidogrel + aspirin
19 ATHERO: Advanced Technology Halting Early Re-Stenosis and Occlusion Unknown status NCT00407940 Phase 4
20 Efficacy of Certican® in Combination With Myfortic® in Renal Unknown status NCT01399242 Phase 4 Certican
21 Maintenance Gemcitabine in the Chinese Advanced Lung Cancer Unknown status NCT01336192 Phase 4 Gemcitabine;Best supportive care
22 GISSOC II: Sirolimus Eluting Stent Versus Bare Metal Stent in Chronic Total Coronary Occlusions Unknown status NCT00220558 Phase 4
23 Radiofrequency Ablation Versus Hepatic Resection for the Treatment of Hepatocellular Carcinomas Smaller Than 2 cm Unknown status NCT01351194 Phase 4
24 A Randomized Cross Over Trial of Two Treatments for Obstructive Sleep Apnea in Veterans With Post Traumatic Stress Disorder Unknown status NCT01535586 Phase 4
25 Effectiveness of a Educational Intervention to Improve the Resolution Capacity of Primary Health Care Teams. Unknown status NCT00140283 Phase 4
26 CCB Safety Study in Treatment of Hypertension of ADPKD Unknown status NCT00541853 Phase 4 Candesartan;Candesartan and Cilnidipine;Candesartan plus non-CCB agents
27 Pharmacokinetics and Pharmacodynamics of Ticagrelor in Patients With Stable Angina, NSTEMI and STEMI Undergoing PCI Unknown status NCT02012140 Phase 4 ticagrelor
28 Optical Coherence Tomography in Long Lesions Unknown status NCT01133925 Phase 4
29 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutations in Familial Adenomatous Polyposis Unknown status NCT02175914 Phase 4 Erythromycin
30 Optimizing Antidepressant Treatment by Genotype-dependent Adjustment of Medication According to the ABCB1 Gene Unknown status NCT02237937 Phase 4 Paroxetine;Sertraline;Citalopram;Venlafaxine;Amitriptyline;Escitalopram;Amitriptylinoxide;Nortriptyline;Trimipramine
31 Telbivudine Renoprotective Effect in Patients With the HBV-related Liver Cirrhosis: a Randomized Controlled Trial Unknown status NCT01799486 Phase 4 Telbivudine;Enecavir;Adefovir
32 Study to Observe the Effect of Mirapex ER® Once-daily (QD) Versus Twice-daily (BID) Unknown status NCT01515774 Phase 4 Mirapex ER
33 Secondary Prophylaxis of Hepatic Encephalopathy in Cirrhosis Unknown status NCT01178372 Phase 4 Lactulose;Probiotics(VSL#3)
34 LDL-C Lowering Efficacy and Safety of Rosuvastatin 20 mg/Day to10 mg/Day in Chinese ACS(Acute Coronary Syndrome) Patients Unknown status NCT02077257 Phase 4 Rosuvastatin
35 How Bone is Made in Children Receiving Dialysis Unknown status NCT01799317 Phase 4 Vitamin D2
36 Algorithm Guided Treatment Strategies for Major Depressive Disorder Unknown status NCT01764867 Phase 4 Escitalopram;Mirtazapine;Fluoxetine;Citalopram;Escitalopram;Paroxetine;Sertraline;Fluvoxamine;Venlafaxine;Duloxetine;Mirtazapine;Bupropion;Trazodone
37 Oral Versus Intravenous Antibiotics for Bone and Joint Infections (OVIVA B&J) Unknown status NCT00974493 Phase 4 Antibiotics
38 Quadripolar Leads for the Management of Heart Failure Patients in the Middle East Unknown status NCT02195843 Phase 4
39 Effect of Short Term Atorvastatin Treatment,80mg/Day on Early Regression of Carotid Artery Atherosclerotic Lesions Unknown status NCT00640744 Phase 4 Atorvastatin
40 Efficacy of Omega-3 Fatty Acids on Borderline Personality Disorder Unknown status NCT00437099 Phase 4 Omacor®;Placebo
41 Topical Cyclosporine for the Treatment of Dry Eye in Patients Infected With the Human Immunodeficiency Virus Unknown status NCT00797030 Phase 4 cyclosporine and sodium carboximethycellulose;sodium carboximethycellulose
42 Morbidity and Mortality Among Dialysis Patients After Treatment for Depression Unknown status NCT00442429 Phase 4
43 The Amputation Surgical Site Infection Trial (ASSIT) Unknown status NCT02018094 Phase 4 Co-amoxiclav;Iodine;Metronidazole;Chlorhexidine;Teicoplanin;Clindamycin
44 Efficacy of Telbivudine With or Without add-on Tenofovir According to Roadmap Strategy Compare With Entecavir Unknown status NCT01588912 Phase 4 Telbivudine;Tenofovir;Entecavir
45 Intensive Lipid Lowering Treatment in Non-ST-elevation Acute Coronary Syndrome (NSTE-ACS) Patients Unknown status NCT01040936 Phase 4 Atorvastatin;Atorvastatin
46 Efficacy and Safety of SurgiFill™ on Spinal Fusion Unknown status NCT02466048 Phase 4
47 Customized Choice of Oral P2Y12 Receptor Blocker Unknown status NCT01477775 Phase 4 Oral P2Y12 receptor blocker;Customized choice for the oral P2Y12 receptor blocker
48 Optimizing Influenza Vaccination in Surgical Oncology Patients Unknown status NCT01698177 Phase 4
49 Evaluation of the Public Health Impact of Seasonal Intermittent Preventive Treatment (IPT) in Children in Senegal Unknown status NCT00712374 Phase 4 sulfadoxine-pyrimethamine plus amodiaquine
50 Improving Asthma Control in the Real World: A Systematic Approach to Improving Dulera Adherence Unknown status NCT02045875 Phase 4 Dulera

Search NIH Clinical Center for Pick Disease

Cochrane evidence based reviews: pick disease of the brain

Genetic Tests for Pick Disease

Genetic tests related to Pick Disease:

id Genetic test Affiliating Genes
1 Pick's Disease 29
2 Pick Disease 24 PSEN1

Anatomical Context for Pick Disease

MalaCards organs/tissues related to Pick Disease:

39
Lung, Testes, Brain, Heart, Kidney, Liver, Prostate

Publications for Pick Disease

Articles related to Pick Disease:

(show top 50) (show all 650)
id Title Authors Year
1
The Report of Three Rare Cases of the Niemann-pick Disease in Birjand, South Khorasan, Eastern Iran. ( 28883878 )
2017
2
Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C. ( 28092091 )
2017
3
Dataset in support of the generation of Niemann-Pick disease Type C1 patient-specific iPS cell lines carrying the novel NPC1 mutation c.1180T>C or the prevalent c.3182T>C mutation - Analysis of pluripotency and neuronal differentiation. ( 28413817 )
2017
4
Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult. ( 28421028 )
2017
5
Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1. ( 28414792 )
2017
6
Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study. ( 28222799 )
2017
7
Characterization of cholesterol homeostasis in sphingosine-1-phosphate lyase-deficient fibroblasts reveals a Niemann-Pick disease type C-like phenotype with enhanced lysosomal Ca(2+) storage. ( 28262793 )
2017
8
Utility of rapid whole exome sequencing in the diagnosis of neonatal Niemann Pick disease type C presenting with fetal hydrops and liver failure. ( 28802248 )
2017
9
Increased Regenerative Capacity of the Olfactory Epithelium in Niemann-Pick Disease Type C1. ( 28383485 )
2017
10
Interstitial Lung Disease Associated with Adult Niemann-Pick Disease Type B. ( 28601876 )
2017
11
Ultrasensitive and selective detection of 3-repeat tau seeding activity in Pick disease brain and cerebrospinal fluid. ( 28293793 )
2017
12
Neurometabolic disease: New drug slows Niemann-Pick disease. ( 28849784 )
2017
13
Niemann-Pick Disease Type C Initially Misdiagnosed as Gaucher Disease in a 6 Year Old Kazakh Girl. ( 28480683 )
2017
14
Association of NPC1 variant p.P237S with a pathogenic splice variant in two Niemann-Pick disease type C1 patients. ( 28328115 )
2017
15
Analytical Characterization of Methyl-I^-Cyclodextrin for Pharmacological Activity to Reduce Lysosomal Cholesterol Accumulation in Niemann-Pick Disease Type C1 Cells. ( 28631941 )
2017
16
New variant associated with Niemann-Pick disease type C: Neurological manifestations and biochemical, molecular, and cellular characterisation. ( 28865947 )
2017
17
Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): findings from the International NPC Registry. ( 28914127 )
2017
18
Patient with Niemann-Pick disease type C: over 20 years' follow-up. ( 28830896 )
2017
19
Longitudinal Changes in White Matter Fractional Anisotropy in Adult-Onset Niemann-Pick Disease Type C Patients Treated with Miglustat. ( 28710748 )
2017
20
Abnormal dopamine transporter imaging in adult-onset Niemann-Pick disease type C. ( 28063684 )
2017
21
Phenanthridin-6-one derivatives as the first class of non-steroidal pharmacological chaperones for Niemann-Pick disease type C1 protein. ( 28465104 )
2017
22
The new obesity-associated protein, neuronal growth regulator 1 (NEGR1), is implicated in Niemann-Pick disease Type C (NPC2)-mediated cholesterol trafficking. ( 27940359 )
2017
23
Severe demyelination in a patient with a late infantile form of Niemann-Pick disease type C. ( 28387450 )
2017
24
Enhanced Delivery and Effects of Acid Sphingomyelinase by ICAM-1-Targeted Nanocarriers in Type B Niemann-Pick Disease Mice. ( 28606376 )
2017
25
Niemann-Pick disease type C in the newborn period: a single-center experience. ( 28951965 )
2017
26
Intrathecal 2-hydroxypropyl-I^-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial. ( 28803710 )
2017
27
Types A and B Niemann-Pick disease. ( 28164782 )
2017
28
Cognition and anatomy of adult Niemann-Pick disease type C: Insights for the Alzheimer field. ( 28662611 )
2017
29
Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member. ( 28808920 )
2017
30
A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C). ( 27449637 )
2016
31
Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3I^,5I+,6I^-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations. ( 26790753 )
2016
32
Level of PICALM, a key component of clathrin-mediated endocytosis, is correlated with levels of phosphotau and autophagy-related proteins and is associated with tau inclusions in AD, PSP and Pick disease. ( 27260836 )
2016
33
Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C. ( 26910362 )
2016
34
Identification of Two Sulfated Cholesterol Metabolites Found in the Urine of a Patient with Niemann-Pick Disease Type C as Novel Candidate Diagnostic Markers. ( 27900236 )
2016
35
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. ( 27338287 )
2016
36
Necroptosis in Niemann-Pick disease, type C1: a potential therapeutic target. ( 26986514 )
2016
37
Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages. ( 27993458 )
2016
38
Induced Pluripotent Stem Cells for Disease Modeling and Evaluation of Therapeutics for Niemann-Pick Disease Type A. ( 27484861 )
2016
39
Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease. ( 26953272 )
2016
40
Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C. ( 27193329 )
2016
41
Pulmonary alveolar proteinosis and Niemann Pick disease type B: An unexpected combination. ( 27408787 )
2016
42
Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C. ( 27271431 )
2016
43
Reduced Myelin Water in the White Matter Tracts of Patients with Niemann-Pick Disease Type C. ( 26939636 )
2016
44
Seven novel mutations of the SMPD1 gene in four Chinese patients with Niemann-Pick disease type A and prenatal diagnosis for four fetuses. ( 26851525 )
2016
45
Niemann-Pick Disease Type B in a 21 Year Old Male. ( 27277377 )
2016
46
Pulmonary Involvement in Niemann-Pick Disease: A State-of-the-Art Review. ( 27164983 )
2016
47
An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family. ( 27549128 )
2016
48
Anesthetic Management in a Child With Niemann-Pick Disease. ( 28203333 )
2016
49
A case of variant biochemical phenotype of Niemann-Pick disease type C accompanying savant syndrome. ( 27181747 )
2016
50
Role of Diffusion Tensor Imaging in Prognostication and Treatment Monitoring in Niemann-Pick Disease Type C1. ( 28933409 )
2016

Variations for Pick Disease

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

71
id 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

ClinVar genetic disease variations for Pick Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MAPT NM_016835.4(MAPT): c.2116G> A (p.Gly706Arg) single nucleotide variant Pathogenic rs63750512 GRCh37 Chromosome 17, 44101376: 44101376
2 MAPT NM_016835.4(MAPT): c.1721A> C (p.Lys574Thr) single nucleotide variant Pathogenic rs63750129 GRCh37 Chromosome 17, 44073978: 44073978
3 MAPT NM_016835.4(MAPT): c.2057A> T (p.Lys686Ile) single nucleotide variant Pathogenic rs63751264 GRCh37 Chromosome 17, 44096092: 44096092
4 MAPT NM_016835.4(MAPT): c.1910C> T (p.Ser637Phe) single nucleotide variant Pathogenic rs63750635 GRCh37 Chromosome 17, 44091652: 44091652
5 PSEN1 NM_000021.3(PSEN1): c.548G> T (p.Gly183Val) single nucleotide variant Pathogenic rs63751068 GRCh37 Chromosome 14, 73653628: 73653628

Expression for Pick Disease

Search GEO for disease gene expression data for Pick Disease.

Pathways for Pick Disease

Pathways related to Pick Disease according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.74 APOE CLU MAPT PSEN1 SNCA SYP
2 10.79 APOE MAPT PSEN1
3
Show member pathways
10.3 NPC1 NPC2

GO Terms for Pick Disease

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

id Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.85 CHGA CLU NPC1L1 PSEN1 SQSTM1 SYP
2 extracellular region GO:0005576 9.85 APOE CD59 CHGA CLU NPC1 NPC2
3 lysosome GO:0005764 9.65 NPC1 NPC2 SMPD1 SNCA SQSTM1
4 secretory granule GO:0030141 9.61 CHGA PCSK1N SCG2
5 neurofibrillary tangle GO:0097418 9.32 CLU MAPT
6 extracellular space GO:0005615 9.32 APOE CD59 CHGA CLU NPC2 PCSK1N
7 chromaffin granule GO:0042583 8.96 CHGA CLU
8 extracellular exosome GO:0070062 10.1 APOE CD59 CLU NPC1 NPC2 PCSK1N

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

(show all 25)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.91 PSEN1 RPS27A SMPD1 SNCA SQSTM1
2 negative regulation of protein phosphorylation GO:0001933 9.74 PSEN1 SNCA TARDBP
3 cholesterol homeostasis GO:0042632 9.73 APOE NPC1 NPC2
4 steroid metabolic process GO:0008202 9.73 APOE NPC1 NPC1L1 NPC2
5 negative regulation of neuron death GO:1901215 9.7 APOE CHGA SNCA
6 cellular protein metabolic process GO:0044267 9.65 APOE PSEN1 RPS27A SCG2 SNCA
7 reverse cholesterol transport GO:0043691 9.62 APOE CLU
8 positive regulation of receptor recycling GO:0001921 9.62 PSEN1 SNCA
9 supramolecular fiber organization GO:0097435 9.61 MAPT SNCA
10 response to dietary excess GO:0002021 9.59 APOE PCSK1N
11 virion assembly GO:0019068 9.58 APOE RPS27A
12 amyloid precursor protein metabolic process GO:0042982 9.58 APOE PSEN1
13 negative regulation of beta-amyloid formation GO:1902430 9.55 APOE CLU
14 cholesterol transport GO:0030301 9.54 NPC1 NPC1L1 NPC2
15 cholesterol efflux GO:0033344 9.5 APOE NPC1 NPC2
16 protein import GO:0017038 9.49 APOE CLU
17 synapse organization GO:0050808 9.48 MAPT SNCA
18 positive regulation of neuron death GO:1901216 9.46 CLU MAPT
19 cholesterol metabolic process GO:0008203 9.46 APOE NPC1 NPC1L1 NPC2
20 regulation of beta-amyloid clearance GO:1900221 9.4 APOE CLU
21 astrocyte activation GO:0048143 9.24 MAPT
22 regulation of neuronal synaptic plasticity GO:0048168 9.13 APOE SNCA SYP
23 microglial cell activation GO:0001774 8.8 CLU MAPT SNCA
24 lipid metabolic process GO:0006629 10 APOE CLU NPC1 NPC1L1 NPC2
25 negative regulation of apoptotic process GO:0043066 10 CD59 PSEN1 RPS27A SNCA SQSTM1

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

id Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.73 APOE MAPT SNCA SQSTM1 SYP TARDBP
2 tau protein binding GO:0048156 9.16 APOE SNCA
3 cholesterol transporter activity GO:0017127 9.02 APOE
4 lipoprotein particle binding GO:0071813 8.96 APOE MAPT
5 cholesterol binding GO:0015485 8.92 APOE NPC1 NPC2 SYP

Sources for Pick Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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