PIDB
MCID: PCK002
MIFTS: 68

Pick Disease (PIDB) malady

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

Aliases & Classifications for Pick Disease

Aliases & Descriptions for Pick Disease:

Name: Pick Disease 54 12 24 13
Pick's Disease 12 50 51 29 14
Pick Disease of the Brain 50 66 42 69
Dementia with Lobar Atrophy and Neuronal Cytoplasmic Inclusions 50 24 66
Lobar Atrophy of Brain 12 24 66
Dementia in Pick's Disease 12
Lobar Atrophy of the Brain 50
Pick Disease of Brain 12
Picks Disease 52
Pidb 66

Characteristics:

HPO:

32
pick disease:
Inheritance autosomal dominant inheritance sporadic


Classifications:



External Ids:

OMIM 54 172700
Disease Ontology 12 DOID:11870
ICD10 33 G31.01 F02.0
ICD9CM 35 331.11
MeSH 42 D020774
NCIt 47 C85008
MedGen 40 C0236642
UMLS 69 C0236642

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, stereotypy and irritability. An important gene associated with Pick Disease is MAPT (Microtubule Associated Protein Tau), and among its related pathways/superpathways are Neuroscience and Lysosome. The drugs Citalopram and Zinc have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and bone, 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,... (172700) more...

UniProtKB/Swiss-Prot : 66 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 148)
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 b 12.4
4 niemann-pick disease, type a 12.4
5 niemann-pick disease, type c2 12.4
6 niemann–pick disease 11.9
7 niemann-pick disease type c, juvenile neurologic onset 11.8
8 niemann-pick disease type c, adult neurologic onset 11.8
9 niemann-pick disease type c, severe perinatal form 11.8
10 niemann-pick disease type c, late infantile neurologic onset 11.8
11 niemann-pick disease type c, severe early infantile neurologic onset 11.8
12 dementia, frontotemporal 11.5
13 acid sphingomyelinase deficiency 11.3
14 sphingolipidosis 11.1
15 supranuclear palsy, progressive 10.9
16 sea-blue histiocyte disease 10.7
17 pouchitis 10.4 NPC1 NPC2
18 5-fluorouracil poisoning 10.3 NPC1 NPC2
19 neuroendocrine cell hyperplasia of infancy 10.3 NPC1 NPC2
20 pulmonary interstitial glycogenosis 10.3 NPC1 NPC2
21 atypical coarctation of aorta 10.3 NPC1 NPC2
22 autosomal dominant tubulointerstitial kidney disease, ren-related 10.3 NPC1 SMPD1
23 keratosis palmoplantaris striata 10.3 APOE MAPT
24 47,xyy syndrome 10.3 NPC1 NPC2 SMPD1
25 tinea favosa 10.3 NPC1 NPC2 SMPD1
26 mcleod neuroacanthocytosis syndrome 10.3 MAPT PSEN1
27 gata1-related thrombocytopenia 10.3 MAPT PSEN1
28 hereditary paraganglioma-pheochromocytoma syndromes 10.2 MAPT PSEN1
29 dysostosis 10.2 NPC1 NPC2 SMPD1
30 deafness, autosomal recessive 101 10.2 MAPT RPS27A SNCA
31 lumbar spinal canal and spinal cord meningioma 10.2 NPC1 NPC2 SMPD1
32 cyprus facial neuromusculoskeletal syndrome 10.2 MAPT RPS27A SNCA
33 mononeuritis of lower limb 10.2 NPC1 NPC2 SMPD1
34 riedel's fibrosing thyroiditis 10.2 MAPT SNCA TARDBP
35 meckel syndrome 10 10.2 APOE MAPT PSEN1
36 social emotional agnosia 10.2 PSEN1 TARDBP
37 craniofacial and skeletal defects 10.2 MAPT RPS27A TARDBP
38 mitochondrial dna depletion syndrome 3 10.1 MAPT SNCA TARDBP
39 color agnosia 10.1 PSEN1 TARDBP
40 bone dysplasia azouz type 10.1 APOE CHGA MAPT
41 spink1-related hereditary pancreatitis 10.1 MAPT SNCA
42 gallbladder adenoma 10.1 MAPT RPS27A SNCA
43 adult mesenchymal chondrosarcoma 10.1 MAPT PSEN1 TARDBP
44 cerebral arteritis 10.1 PSEN1 TARDBP
45 neuronitis 10.1
46 cerebroretinal vasculopathy 10.1 MAPT PSEN1 SQSTM1
47 personality disorder 10.1 APOE MAPT PSEN1 SNCA
48 autoimmune disease of blood 10.1 PSEN1 TARDBP
49 atrial septal defect 9 10.0 MAPT NPC1 NPC1L1 NPC2 SMPD1 SNCA
50 angina pectoris 10.0 APOE 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 by clinical synopsis from OMIM:

172700

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 stereotypy 32 HP:0000733
3 irritability 32 HP:0000737
4 polyphagia 32 HP:0002591
5 apathy 32 HP:0000741
6 disinhibition 32 HP:0000734
7 neuronal loss in central nervous system 32 HP:0002529
8 gliosis 32 HP:0002171
9 echolalia 32 HP:0010529
10 language impairment 32 HP:0002463
11 hyperorality 32 HP:0000710
12 frontotemporal dementia 32 HP:0002145
13 emotional blunting 32 HP:0030213
14 perseveration 32 HP:0030223
15 inappropriate laughter 32 HP:0000748
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 14)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.35 PSEN1 SMPD1 SNCA SQSTM1 TARDBP APOE
2 growth/size/body region MP:0005378 10.32 APOE CHAT CHGA MAPT MBP NPC1
3 homeostasis/metabolism MP:0005376 10.31 NPC1L1 NPC2 PSEN1 SMPD1 SNCA SQSTM1
4 cellular MP:0005384 10.29 APOE CD59 MAPT MBP NPC1 NPC2
5 cardiovascular system MP:0005385 10.22 CLU MAPT NPC1 NPC2 PSEN1 SCG2
6 mortality/aging MP:0010768 10.21 APOE SMPD1 SNCA SQSTM1 TARDBP TUBB3
7 hematopoietic system MP:0005397 10.16 APOE CD59 MAPT MBP NPC1 NPC2
8 immune system MP:0005387 10.14 APOE CLU MAPT MBP NPC1 NPC2
9 nervous system MP:0003631 10.13 APOE CHAT CLU MAPT MBP NPC1
10 endocrine/exocrine gland MP:0005379 10.1 APOE CD59 CHGA NPC1 NPC1L1 NPC2
11 reproductive system MP:0005389 9.81 PSEN1 SMPD1 SNCA APOE CD59 CHAT
12 renal/urinary system MP:0005367 9.8 APOE CD59 CHGA CLU MAPT PSEN1
13 respiratory system MP:0005388 9.56 APOE CHAT NPC1 NPC2 PCSK1N PSEN1
14 taste/olfaction MP:0005394 8.92 NPC1 SNCA APOE MAPT

Drugs & Therapeutics for Pick Disease

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

(show top 50) (show all 1510)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citalopram Approved Phase 4,Phase 3,Phase 2,Early Phase 1 59729-33-8 2771
2
Zinc Approved Phase 4,Phase 2,Phase 3,Phase 1 7440-66-6 32051 23994
3
Amitriptyline Approved Phase 4,Phase 3 50-48-6 2160
4
Norepinephrine Approved Phase 4,Phase 3,Phase 2,Early Phase 1 51-41-2 439260
5
Nortriptyline Approved Phase 4,Phase 2 72-69-5 4543
6
Paroxetine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 61869-08-7 43815
7
Perphenazine Approved Phase 4,Phase 3 58-39-9 4748
8
Sertraline Approved Phase 4,Phase 2,Phase 3 79617-96-2 68617
9
Trimipramine Approved Phase 4 739-71-9 5584 4055
10
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 51-61-6, 62-31-7 681
11
Pramipexole Approved, Investigational Phase 4,Phase 3,Phase 1 104632-26-0 59868 119570
12
Ropinirole Approved, Investigational Phase 4,Phase 3 91374-20-8, 91374-21-9 5095 497540
13
Lactulose Approved Phase 4 4618-18-2 11333
14
Rasagiline Approved Phase 4,Phase 2 136236-51-6 3052776
15
Dalteparin Approved Phase 4,Phase 3,Phase 2 9041-08-1
16
Heparin Approved, Investigational Phase 4,Phase 3,Phase 1 9005-49-6 772 46507594
17 Nadroparin Approved Phase 4 9041-08-1
18
Simvastatin Approved Phase 4 79902-63-9 54454
19
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4,Phase 2 67-73-2 6215
20
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
21
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
22
Timolol Approved Phase 4 26839-75-8 33624 5478
23
Travoprost Approved Phase 4 157283-68-6 5282226
24
Everolimus Approved Phase 4,Phase 3,Phase 2,Phase 1 159351-69-6 6442177
25
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 22916-47-8 4189
26
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
27
Zoledronic acid Approved Phase 4,Phase 2,Phase 3,Phase 1 118072-93-8 68740
28
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-78-2 2244
29
Omeprazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1 73590-58-6 4594
30
Pantoprazole Approved Phase 4,Phase 2 102625-70-7 4679
31
Ticlopidine Approved Phase 4,Phase 3 55142-85-3 5472
32
Bivalirudin Approved, Investigational Phase 4,Phase 2,Phase 3 128270-60-0 16129704
33
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 128794-94-5 5281078
34
Mycophenolic acid Approved Phase 4,Phase 3,Phase 2,Phase 1 24280-93-1 446541
35
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 53-03-2 5865
36
Tacrolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 104987-11-3 445643 439492
37
Cisplatin Approved Phase 4,Phase 2,Phase 3,Phase 1 15663-27-1 84093 441203 2767
38
Gemcitabine Approved Phase 4,Phase 3,Phase 2,Phase 1 95058-81-4 60750
39
Candesartan Approved Phase 4,Phase 2,Early Phase 1 139481-59-7 2541
40
Cilnidipine Approved Phase 4 132203-70-4 5282138
41
Ticagrelor Approved Phase 4,Phase 3 274693-27-5 9871419
42
Paclitaxel Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 33069-62-4 36314
43
Erythromycin Approved, Vet_approved Phase 4 114-07-8 12560
44
Adefovir Dipivoxil Approved, Investigational Phase 4 142340-99-6 60871
45
Telbivudine Approved, Investigational Phase 4,Phase 2,Phase 3 3424-98-4 159269
46
Sevelamer Approved Phase 4 52757-95-6, 152751-57-0 3085017
47
Bupropion Approved Phase 4,Phase 3,Phase 2 34841-39-9, 34911-55-2 444
48
Fluoxetine Approved, Vet_approved Phase 4,Phase 3,Phase 2 54910-89-3 3386
49
Fluvoxamine Approved, Investigational Phase 4 54739-18-3 3404 5324346
50
Histamine Approved, Investigational Phase 4,Phase 2,Phase 1,Early Phase 1 75614-87-8, 51-45-6 774

Interventional clinical trials:

(show top 50) (show all 5402)
id Name Status NCT ID Phase
1 Major Depressive Disorder - Understanding The Link Between The Brain And The Heart Unknown status NCT01568307 Phase 4
2 Treatment Youth With Obsessive-Compulsive Disorder Unknown status NCT00708240 Phase 4
3 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
4 Effect of Dietary and Life Style Modification on Post Liver Transplant Obesity Unknown status NCT00878592 Phase 4
5 Intensive Versus Nonintensive Insulin Therapy for Hyperglycemia After Traumatic Brain Injury Unknown status NCT02161055 Phase 4
6 Optimizing Antidepressant Treatment by Genotype-dependent Adjustment of Medication According to the ABCB1 Gene Unknown status NCT02237937 Phase 4
7 Study to Observe the Effect of Mirapex ER® Once-daily (QD) Versus Twice-daily (BID) Unknown status NCT01515774 Phase 4
8 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
9 Secondary Prophylaxis of Hepatic Encephalopathy in Cirrhosis Unknown status NCT01178372 Phase 4
10 The Effects of Rasagiline on Cognitive Deficits Associated With Parkinson's Disease Unknown status NCT00696215 Phase 4
11 Assessment of the Effects of Chondroitin Sulphate in Patients With Knee Osteoarthritis With Functional Magnetic Resonance Imaging (fMRI) Unknown status NCT01226615 Phase 4
12 The Role of Statins in Preventing Cerebral Vasospasm Secondary to Subarachnoid Hemorrhage Unknown status NCT01346748 Phase 4
13 Low Dose Rt-PA for Acute Normotensive Pulmonary Embolism With RVD Unknown status NCT01531829 Phase 4
14 Treatment of Mild and Subthreshold Depressive Disorders Unknown status NCT00226642 Phase 4
15 Low-dose Statins and Nutraceuticals in High-intensity Statin-intolerant Patients Unknown status NCT02001883 Phase 4
16 Vitamin K2 and Vessel Calcification in Chronic Kidney Disease Patients Unknown status NCT01101698 Phase 4
17 Flucinolone Acetonide Implant for Treating Refractory Ocular Behcet's Disease Unknown status NCT00720928 Phase 4
18 The Secondary Beneficial Effects of Prostaglandin Analog Treatment in Thyroid Eye Disease Patients. Unknown status NCT01927406 Phase 4
19 Effects of Exercise Training on Systemic Inflammation an Muscle Repair According to the Obstructive Chronic Pulmonary Disease (COPD) Phenotype Unknown status NCT01431625 Phase 4
20 Effect of Fluticasone Proprionate 0.05% on Narrow Band UV-B in Active Vitiligo Unknown status NCT01246921 Phase 4
21 Prospective, Multicenter Study of the Second Generation Antimicrobial Graft in the Abdominal Position Unknown status NCT00824109 Phase 4
22 Assessment of Stent Strut Coverage and Endothelial Function After Drug-Eluting Stents Unknown status NCT01073111 Phase 4
23 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
24 Primary and Secondary Prevention of Human Papillomavirus (HPV) Disease in China Unknown status NCT01021904 Phase 4
25 Omeprazole and Pantoprazole Antiplatelet Effect of Clopidogrel Clinical Trials(OPEN) Unknown status NCT01735227 Phase 4
26 Anticoagulant Treatments and Percutaneous Coronary Angioplasty Unknown status NCT00669149 Phase 4
27 Intracoronary Stenting and Angiographic Results: ORSIRO Stents Versus Xience PRIME Stents Assessed by Optical Coherence Tomography Unknown status NCT01594736 Phase 4
28 ATHERO: Advanced Technology Halting Early Re-Stenosis and Occlusion Unknown status NCT00407940 Phase 4
29 Efficacy of Certican® in Combination With Myfortic® in Renal Unknown status NCT01399242 Phase 4
30 Maintenance Gemcitabine in the Chinese Advanced Lung Cancer Unknown status NCT01336192 Phase 4
31 GISSOC II: Sirolimus Eluting Stent Versus Bare Metal Stent in Chronic Total Coronary Occlusions Unknown status NCT00220558 Phase 4
32 Radiofrequency Ablation Versus Hepatic Resection for the Treatment of Hepatocellular Carcinomas Smaller Than 2 cm Unknown status NCT01351194 Phase 4
33 A Randomized Cross Over Trial of Two Treatments for Obstructive Sleep Apnea in Veterans With Post Traumatic Stress Disorder Unknown status NCT01535586 Phase 4
34 Effectiveness of a Educational Intervention to Improve the Resolution Capacity of Primary Health Care Teams. Unknown status NCT00140283 Phase 4
35 CCB Safety Study in Treatment of Hypertension of ADPKD Unknown status NCT00541853 Phase 4
36 Pharmacokinetics and Pharmacodynamics of Ticagrelor in Patients With Stable Angina, NSTEMI and STEMI Undergoing PCI Unknown status NCT02012140 Phase 4
37 Optical Coherence Tomography in Long Lesions Unknown status NCT01133925 Phase 4
38 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutations in Familial Adenomatous Polyposis Unknown status NCT02175914 Phase 4
39 Telbivudine Renoprotective Effect in Patients With the HBV-related Liver Cirrhosis: a Randomized Controlled Trial Unknown status NCT01799486 Phase 4
40 How Bone is Made in Children Receiving Dialysis Unknown status NCT01799317 Phase 4
41 Algorithm Guided Treatment Strategies for Major Depressive Disorder Unknown status NCT01764867 Phase 4
42 Quadripolar Leads for the Management of Heart Failure Patients in the Middle East Unknown status NCT02195843 Phase 4
43 Effect of Short Term Atorvastatin Treatment,80mg/Day on Early Regression of Carotid Artery Atherosclerotic Lesions Unknown status NCT00640744 Phase 4
44 Efficacy of Omega-3 Fatty Acids on Borderline Personality Disorder Unknown status NCT00437099 Phase 4
45 Oral Versus Intravenous Antibiotics for Bone and Joint Infections (OVIVA B&J) Unknown status NCT00974493 Phase 4
46 Topical Cyclosporine for the Treatment of Dry Eye in Patients Infected With the Human Immunodeficiency Virus Unknown status NCT00797030 Phase 4
47 Morbidity and Mortality Among Dialysis Patients After Treatment for Depression Unknown status NCT00442429 Phase 4
48 The Amputation Surgical Site Infection Trial (ASSIT) Unknown status NCT02018094 Phase 4
49 Efficacy of Telbivudine With or Without add-on Tenofovir According to Roadmap Strategy Compare With Entecavir Unknown status NCT01588912 Phase 4
50 Intensive Lipid Lowering Treatment in Non-ST-elevation Acute Coronary Syndrome (NSTE-ACS) Patients Unknown status NCT01040936 Phase 4

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
Brain, Liver, Bone, Bone Marrow, Skin, Lung, Testes

Publications for Pick Disease

Articles related to Pick Disease:

(show top 50) (show all 635)
id Title Authors Year
1
Severe demyelination in a patient with a late infantile form of Niemann-Pick disease type C. ( 28387450 )
2017
2
Niemann-Pick Disease Type C Initially Misdiagnosed as Gaucher Disease in a 6 Year Old Kazakh Girl. ( 28480683 )
2017
3
Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1. ( 28414792 )
2017
4
Ultrasensitive and selective detection of 3-repeat tau seeding activity in Pick disease brain and cerebrospinal fluid. ( 28293793 )
2017
5
The new obesity-associated protein, neuronal growth regulator 1 (NEGR1), is implicated in Niemann-Pick disease Type C (NPC2)-mediated cholesterol trafficking. ( 27940359 )
2017
6
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
7
Increased Regenerative Capacity of the Olfactory Epithelium in Niemann-Pick Disease Type C1. ( 28383485 )
2017
8
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
9
Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult. ( 28421028 )
2017
10
Abnormal dopamine transporter imaging in adult-onset Niemann-Pick disease type C. ( 28063684 )
2017
11
Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C. ( 28092091 )
2017
12
Types A and B Niemann-Pick disease. ( 28164782 )
2017
13
Phenanthridin-6-one derivatives as the first class of non-steroidal pharmacological chaperones for Niemann-Pick disease type C1 protein. ( 28465104 )
2017
14
Association of NPC1 variant p.P237S with a pathogenic splice variant in two Niemann-Pick disease type C1 patients. ( 28328115 )
2017
15
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
16
Pearls & Oy-sters: Niemann-Pick disease type C in a 65-year-old patient. ( 27550898 )
2016
17
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
18
Anesthetic Management in a Child With Niemann-Pick Disease. ( 28203333 )
2016
19
Niemann-Pick Disease Type B in a 21 Year Old Male. ( 27277377 )
2016
20
Visceral symptoms as a key diagnostic sign for the early infantile form of Niemann-Pick disease type C in a Russian patient: a case report. ( 27250337 )
2016
21
An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family. ( 27549128 )
2016
22
Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases. ( 27198631 )
2016
23
A case of variant biochemical phenotype of Niemann-Pick disease type C accompanying savant syndrome. ( 27181747 )
2016
24
Development of a bile acid-based newborn screen for Niemann-Pick disease type C. ( 27147587 )
2016
25
Niemann-Pick disease type C1(NPC1) is involved in resistance against imatinib in the imatinib-resistant Ph+ acute lymphoblastic leukemia cell line SUP-B15/RI. ( 26818574 )
2016
26
Pulmonary Involvement in Niemann-Pick Disease: A State-of-the-Art Review. ( 27164983 )
2016
27
Types A and B Niemann-Pick Disease. ( 27491215 )
2016
28
Cathepsin S contributes to microglia-mediated olfactory dysfunction through the regulation of Cx3cl1-Cx3cr1 axis in a Niemann-Pick disease type C1 model. ( 27687148 )
2016
29
Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat. ( 26984608 )
2016
30
Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages. ( 27993458 )
2016
31
Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C. ( 27193329 )
2016
32
Human acid sphingomyelinase structures provide insight to molecular basis of Niemann-Pick disease. ( 27725636 )
2016
33
Pulmonary alveolar proteinosis and Niemann Pick disease type B: An unexpected combination. ( 27408787 )
2016
34
Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C. ( 27271431 )
2016
35
Hepatic Primary and Secondary Cholesterol Deposition and Damage in Niemann-Pick Disease. ( 26784526 )
2016
36
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
37
Reduced Myelin Water in the White Matter Tracts of Patients with Niemann-Pick Disease Type C. ( 26939636 )
2016
38
Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann-Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report. ( 27599728 )
2016
39
Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C. ( 26910362 )
2016
40
Sphingomyelin-induced inhibition of the plasma membrane calcium ATPase causes neurodegeneration in type A Niemann-Pick disease. ( 27620840 )
2016
41
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. ( 27338287 )
2016
42
Niemann-Pick disease, type C and Roscoe Brady. ( 27923544 )
2016
43
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
44
Necroptosis in Niemann-Pick disease, type C1: a potential therapeutic target. ( 26986514 )
2016
45
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
46
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
47
Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review. ( 27339554 )
2016
48
Teaching Video NeuroImages: The "round the houses" sign as a clinical clue for Niemann-Pick disease type C. ( 27164722 )
2016
49
Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea. ( 27366019 )
2016
50
A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C). ( 27449637 )
2016

Variations for Pick Disease

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

66
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 MBP PSEN1 SNCA
2 11.52 NPC1 NPC2 SMPD1
3 10.79 APOE MAPT PSEN1
4
Show member pathways
10.3 NPC1 NPC2

GO Terms for Pick Disease

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.96 APOE CD59 CHGA CLU NPC1 NPC2
2 perinuclear region of cytoplasm GO:0048471 9.92 CHGA CLU NPC1 PSEN1 SNCA
3 cytoplasmic vesicle GO:0031410 9.91 CHGA CLU NPC1L1 PSEN1 SQSTM1
4 axon GO:0030424 9.78 MAPT PSEN1 SNCA TUBB3
5 lysosome GO:0005764 9.72 NPC1 NPC2 SMPD1 SNCA SQSTM1
6 secretory granule GO:0030141 9.63 CHGA PCSK1N SCG2
7 cell periphery GO:0071944 9.58 CLU MBP TUBB3
8 inclusion body GO:0016234 9.49 SNCA SQSTM1
9 neuronal cell body GO:0043025 9.43 APOE MAPT MBP PSEN1 SNCA TUBB3
10 neurofibrillary tangle GO:0097418 9.37 CLU MAPT
11 extracellular space GO:0005615 9.32 APOE CD59 CHGA CLU NPC2 PCSK1N
12 chromaffin granule GO:0042583 9.16 CHGA CLU
13 extracellular exosome GO:0070062 10.13 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 lipid metabolic process GO:0006629 9.97 APOE CLU NPC1 NPC1L1 NPC2
2 negative regulation of apoptotic process GO:0043066 9.96 CD59 PSEN1 RPS27A SNCA SQSTM1
3 response to drug GO:0042493 9.91 NPC1 NPC1L1 SMPD1 SNCA
4 positive regulation of apoptotic process GO:0043065 9.83 PSEN1 RPS27A SMPD1 SNCA SQSTM1
5 steroid metabolic process GO:0008202 9.71 APOE NPC1 NPC1L1 NPC2
6 negative regulation of protein phosphorylation GO:0001933 9.7 PSEN1 SNCA TARDBP
7 cholesterol homeostasis GO:0042632 9.69 APOE NPC1 NPC2
8 negative regulation of neuron death GO:1901215 9.65 APOE CHGA SNCA
9 regulation of neuron death GO:1901214 9.62 CLU SNCA
10 regulation of neuronal synaptic plasticity GO:0048168 9.62 APOE SNCA
11 positive regulation of endocytosis GO:0045807 9.61 APOE SNCA
12 reverse cholesterol transport GO:0043691 9.6 APOE CLU
13 positive regulation of receptor recycling GO:0001921 9.59 PSEN1 SNCA
14 supramolecular fiber organization GO:0097435 9.58 MAPT SNCA
15 response to dietary excess GO:0002021 9.57 APOE PCSK1N
16 virion assembly GO:0019068 9.55 APOE RPS27A
17 cellular protein metabolic process GO:0044267 9.55 APOE PSEN1 RPS27A SCG2 SNCA
18 amyloid precursor protein metabolic process GO:0042982 9.54 APOE PSEN1
19 cholesterol efflux GO:0033344 9.5 APOE NPC1 NPC2
20 negative regulation of beta-amyloid formation GO:1902430 9.49 APOE CLU
21 protein import GO:0017038 9.46 APOE CLU
22 cholesterol transport GO:0030301 9.43 NPC1 NPC1L1 NPC2
23 regulation of beta-amyloid clearance GO:1900221 9.37 APOE CLU
24 cholesterol metabolic process GO:0008203 9.26 APOE NPC1 NPC1L1 NPC2
25 microglial cell activation GO:0001774 8.8 CLU MAPT SNCA

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

id Name GO ID Score Top Affiliating Genes
1 low-density lipoprotein particle receptor binding GO:0050750 9.32 APOE CLU
2 tau protein binding GO:0048156 9.16 APOE SNCA
3 lipoprotein particle binding GO:0071813 8.96 APOE MAPT
4 cholesterol binding GO:0015485 8.8 APOE NPC1 NPC2
5 protein binding GO:0005515 10.16 APOE CD59 CLU MAPT MBP NPC1

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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