NPC1
MCID: NMN015
MIFTS: 63

Niemann-Pick Disease, Type C1 (NPC1) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Respiratory diseases, Immune diseases

Aliases & Classifications for Niemann-Pick Disease, Type C1

Aliases & Descriptions for Niemann-Pick Disease, Type C1:

Name: Niemann-Pick Disease, Type C1 54 13 38 69
Niemann-Pick Disease Type D 50 24 66 29
Niemann-Pick Disease Type C1 38 50 24
Niemann-Pick Disease, Type C 50 29 69
Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia 50 66
Niemann-Pick Disease with Cholesterol Esterification Block 50 66
Niemann-Pick Disease Without Sphingomyelinase Deficiency 50 66
Niemann-Pick Disease, Type D 54 69
Niemann-Pick Disease C1 66 29
Npc1 50 66
Niemann-Pick Disease, Chronic Neuronopathic Form 50
Niemann-Pick Disease Chronic Neuronopathic Form 66
Niemann-Pick Disease, Subacute Juvenile Form 50
Niemann-Pick Disease Subacute Juvenile Form 66
Nova Scotia Form of Niemann-Pick Disease 50
Niemann-Pick Disease, Nova Scotian Type 50
Niemann-Pick Disease, Nova Scotia Type 24
Niemann-Pick Disease Nova Scotian Type 66
Nova Scotia Niemann-Pick Disease 50
Niemann-Pick Disease Type Ii 66
Niemann-Picks Disease Type C 52
Npc 66

Characteristics:

HPO:

32
niemann-pick disease, type c1:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course phenotypic variability onset


Classifications:



Summaries for Niemann-Pick Disease, Type C1

OMIM : 54 Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive... (257220) more...

MalaCards based summary : Niemann-Pick Disease, Type C1, also known as niemann-pick disease type d, is related to niemann-pick disease type c, juvenile neurologic onset and niemann-pick disease type c, severe perinatal form, and has symptoms including ataxia, seizures and dystonia. An important gene associated with Niemann-Pick Disease, Type C1 is NPC1 (NPC Intracellular Cholesterol Transporter 1), and among its related pathways/superpathways are Lipoprotein metabolism and Neuroscience. The drugs Ezetimibe and Anticholesteremic Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and bone marrow, and related phenotypes are homeostasis/metabolism and behavior/neurological

UniProtKB/Swiss-Prot : 66 Niemann-Pick disease C1: A lysosomal storage disorder that affects the viscera and the central nervous system. It is due to defective intracellular processing and transport of low-density lipoprotein derived cholesterol. It causes accumulation of cholesterol in lysosomes, with delayed induction of cholesterol homeostatic reactions. Niemann-Pick disease type C1 has a highly variable clinical phenotype. Clinical features include variable hepatosplenomegaly and severe progressive neurological dysfunction such as ataxia, dystonia and dementia. The age of onset can vary from infancy to late adulthood. An allelic variant of Niemann-Pick disease type C1 is found in people with Nova Scotia ancestry. Patients with the Nova Scotian clinical variant are less severely affected.

Related Diseases for Niemann-Pick Disease, Type C1

Diseases in the Niemann-Pick Disease family:

Niemann-Pick Disease, Type a Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type C2 Niemann-Pick Disease, Type C1

Diseases related to Niemann-Pick Disease, Type C1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
id Related Disease Score Top Affiliating Genes
1 niemann-pick disease type c, juvenile neurologic onset 12.3
2 niemann-pick disease type c, severe perinatal form 12.2
3 niemann-pick disease type c, late infantile neurologic onset 12.2
4 niemann-pick disease type c, severe early infantile neurologic onset 12.2
5 niemann-pick disease type c, adult neurologic onset 12.2
6 nasopharyngeal carcinoma 11.5
7 niemann-pick disease 10.8
8 pick disease 10.8
9 niemann-pick disease, type c2 10.8
10 nasopharyngitis 10.3
11 neuronitis 10.3
12 pouchitis 10.3 NPC1 NPC2
13 5-fluorouracil poisoning 10.3 NPC1 NPC2
14 neuroendocrine cell hyperplasia of infancy 10.3 NPC1 NPC2
15 pulmonary interstitial glycogenosis 10.3 NPC1 NPC2
16 atypical coarctation of aorta 10.3 NPC1 NPC2
17 autosomal dominant tubulointerstitial kidney disease, ren-related 10.3 NPC1 SMPD1
18 tinea favosa 10.2 NPC1 NPC2 SMPD1
19 lumbar spinal canal and spinal cord meningioma 10.1 NPC1 NPC2 SMPD1
20 lockwood feingold syndrome 10.1 ASAH2 PSAP
21 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 10.1 PSAP SMPD1
22 leukemia 10.1
23 lymphoblastic leukemia 10.1
24 crohn's disease 10.1
25 mononeuritis of lower limb 10.0 NPC1 NPC2 PSAP SMPD1
26 mitochondrial dna depletion syndrome 14, cardioencephalomyopathic type 10.0 APP MAPT
27 intracranial structure hemangioma 10.0 APP MAPT
28 hemangioblastoma 9.9 HCRT SNCA
29 lower gum cancer 9.9 HCRT SNCA
30 spink1-related hereditary pancreatitis 9.9 MAPT SNCA
31 deafness, autosomal recessive 101 9.9 MAPT SNCA
32 47,xyy syndrome 9.8 ASAH2 NPC1 NPC2 PSAP SMPD1
33 dysostosis 9.8 ASAH2 NPC1 NPC2 PSAP SMPD1
34 riedel's fibrosing thyroiditis 9.8 MAPT SNCA
35 bone dysplasia azouz type 9.8 APP MAPT
36 benign partial epilepsy with secondarily generalized seizures in infancy 9.8 MAPT SNCA
37 osteochondrosis 9.8 APOD NPC1 NPC1L1 NPC2 PSAP SMPD1
38 cyprus facial neuromusculoskeletal syndrome 9.8 MAPT SNCA
39 juvenile amyotrophic lateral sclerosis with dementia 9.7 APP MAPT SNCA
40 hypoproteinemia, hypercatabolic 9.7 APP MAPT SNCA
41 meier-gorlin syndrome 5 9.7 APP MAPT SNCA
42 personality disorder 9.7 HCRT MAPT SNCA
43 coenzyme q10 deficiency, primary, 1 9.7 APP MAPT SNCA
44 gallbladder adenoma 9.7 APP MAPT SNCA
45 cardiomyopathy, dilated, 1u 9.7 APP MAPT SNCA
46 eumycotic mycetoma 9.7 APP MAPT SNCA
47 substance-induced psychosis 9.7 APP MAPT SNCA
48 epithelioid type angiomyolipoma 9.6 APP HCRT MAPT SNCA
49 acne inversa, familial, 3 9.5 MAPT NPC1 NPC1L1 NPC2 SMPD1 SNCA
50 atrial septal defect 9 8.5 ABCA1 APOD APP ASAH2 HCRT MAPT

Graphical network of the top 20 diseases related to Niemann-Pick Disease, Type C1:



Diseases related to Niemann-Pick Disease, Type C1

Symptoms & Phenotypes for Niemann-Pick Disease, Type C1

Symptoms by clinical synopsis from OMIM:

257220

Clinical features from OMIM:

257220

Human phenotypes related to Niemann-Pick Disease, Type C1:

32 (show all 26)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 seizures 32 HP:0001250
3 dystonia 32 HP:0001332
4 intellectual disability 32 HP:0001249
5 muscular hypotonia 32 HP:0001252
6 spasticity 32 HP:0001257
7 dysarthria 32 HP:0001260
8 dysphagia 32 HP:0002015
9 global developmental delay 32 HP:0001263
10 splenomegaly 32 HP:0001744
11 hepatomegaly 32 HP:0002240
12 psychosis 32 HP:0000709
13 dementia 32 HP:0000726
14 prolonged neonatal jaundice 32 HP:0006579
15 neuronal loss in central nervous system 32 HP:0002529
16 vertical supranuclear gaze palsy 32 HP:0000511
17 loss of speech 32 HP:0002371
18 sea-blue histiocytosis 32 HP:0001982
19 bone-marrow foam cells 32 HP:0004333
20 fatal liver failure in infancy 32 HP:0006583
21 cataplexy 32 HP:0002524
22 neurofibrillary tangles 32 HP:0002185
23 fetal ascites 32 HP:0001791
24 low cholesterol esterification rates 32 HP:0003349
25 abnormal cholesterol homeostasis 32 HP:0003464
26 foam cells in visceral organs and cns 32 HP:0003640

UMLS symptoms related to Niemann-Pick Disease, Type C1:


cerebellar ataxia, muscle spasticity, seizures

MGI Mouse Phenotypes related to Niemann-Pick Disease, Type C1:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.18 HCRT MAPT NPC1 NPC1L1 NPC2 PSAP
2 behavior/neurological MP:0005386 10.15 APOD APP HCRT MAPT NPC1 NPC2
3 growth/size/body region MP:0005378 10.13 ABCA1 APP HCRT MAPT NPC1 NPC1L1
4 cardiovascular system MP:0005385 10.08 ABCA1 APOD HCRT MAPT NPC1 NPC2
5 cellular MP:0005384 10.06 NPC1 NPC2 PSAP SMPD1 SNCA ABCA1
6 immune system MP:0005387 9.97 ABCA1 APP MAPT NPC1 NPC2 PSAP
7 mortality/aging MP:0010768 9.91 ABCA1 APOD APP MAPT NPC1 NPC2
8 nervous system MP:0003631 9.85 ABCA1 APOD APP HCRT MAPT NPC1
9 liver/biliary system MP:0005370 9.8 ABCA1 NPC1 NPC1L1 NPC2 PSAP SMPD1
10 respiratory system MP:0005388 9.43 ABCA1 HCRT NPC1 NPC2 PSAP SMPD1
11 taste/olfaction MP:0005394 8.8 MAPT NPC1 SNCA

Drugs & Therapeutics for Niemann-Pick Disease, Type C1

Drugs for Niemann-Pick Disease, Type C1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 59)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ezetimibe Approved Phase 4,Phase 3,Phase 1 163222-33-1 150311
2 Anticholesteremic Agents Phase 4,Phase 3,Phase 1
3 Antimetabolites Phase 4,Phase 3,Phase 1,Phase 2
4 Hypolipidemic Agents Phase 4,Phase 3,Phase 1
5 Lipid Regulating Agents Phase 4,Phase 3,Phase 1
6 Liver Extracts Phase 4,Phase 2,Phase 3
7
Miglustat Approved Phase 3,Phase 2,Phase 1 72599-27-0 51634
8
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
9
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
10
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
11
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
12
1-Deoxynojirimycin Experimental Phase 3,Phase 2 19130-96-2 1374
13 Anti-HIV Agents Phase 3,Phase 2,Phase 1
14 Anti-Infective Agents Phase 3,Phase 1,Phase 2
15 Anti-Retroviral Agents Phase 3,Phase 2,Phase 1
16 Antiviral Agents Phase 3,Phase 1,Phase 2
17 Cardiac Glycosides Phase 3,Phase 2,Phase 1
18 Glycoside Hydrolase Inhibitors Phase 3,Phase 2,Phase 1
19 Hypoglycemic Agents Phase 3,Phase 2,Phase 1
20 Alkylating Agents Phase 2, Phase 3
21 Antilymphocyte Serum Phase 2, Phase 3
22 Antineoplastic Agents, Alkylating Phase 2, Phase 3
23 Antirheumatic Agents Phase 2, Phase 3
24 Immunosuppressive Agents Phase 2, Phase 3,Phase 1
25 Methylprednisolone acetate Phase 2, Phase 3
26 Methylprednisolone Hemisuccinate Phase 2, Phase 3
27 Prednisolone acetate Phase 2, Phase 3
28 Prednisolone hemisuccinate Phase 2, Phase 3
29 Prednisolone phosphate Phase 2, Phase 3
30 insulin Phase 3
31 Insulin, Globin Zinc Phase 3
32 Pharmaceutical Solutions Phase 2, Phase 3,Phase 1
33
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
34
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
35
Pancrelipase Approved Phase 1, Phase 2 53608-75-6
36
Gemcitabine Approved Phase 1, Phase 2 95058-81-4 60750
37
Paclitaxel Approved, Vet_approved Phase 1, Phase 2 33069-62-4 36314
38
alemtuzumab Approved, Investigational Phase 2 216503-57-0
39 Histone Deacetylase Inhibitors Phase 1, Phase 2
40 Antidotes Phase 1, Phase 2
41 Antioxidants Phase 1, Phase 2
42 Expectorants Phase 1, Phase 2
43 N-monoacetylcystine Phase 1, Phase 2
44 Protective Agents Phase 1, Phase 2
45 Respiratory System Agents Phase 1, Phase 2
46 Antibodies Phase 1, Phase 2
47 Antibodies, Monoclonal Phase 1, Phase 2
48 Immunoglobulins Phase 1, Phase 2
49 pancreatin Phase 1, Phase 2
50
Betadex Phase 1, Phase 2 7585-39-9 320761

Interventional clinical trials:

(show all 44)
id Name Status NCT ID Phase
1 Study of Ezetimibe for Chronic Hepatitis C Virus (HCV) Infection in Liver Transplant Candidates (EZE-2) Recruiting NCT02768545 Phase 4
2 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3
3 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3
4 Effects of Selective Inhibition of Cholesterol Absorption With Ezetimibe on Intestinal Cholesterol Homeostasis in Dyslipidemic Men With Insulin-resistance - a Pilot Study Completed NCT01849068 Phase 3
5 Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) to Treat Niemann-Pick Type C1 (NPC1) Disease Recruiting NCT02534844 Phase 2, Phase 3
6 Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Recruiting NCT02004691 Phase 2, Phase 3
7 Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type C Active, not recruiting NCT02612129 Phase 2, Phase 3
8 SurVival of Lysosomal Acid Lipase Deficiency (LAL-D) Infants Treated With SebelipAse aLfa Active, not recruiting NCT01371825 Phase 2, Phase 3
9 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
10 Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 Terminated NCT01473875 Phase 2, Phase 3
11 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2
12 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2
13 Miglustat in Niemann-Pick Type C Disease Completed NCT00517153 Phase 2
14 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
15 QUILT-3.019: Phase 2 Study of NPC-1C Chimeric Monoclonal Antibody to Treat Pancreatic and Colorectal Cancer Completed NCT01040000 Phase 1, Phase 2
16 Study of Pharmacokinetics and Preliminary Efficacy in Patients With Niemann-Pick C1 Recruiting NCT02912793 Phase 1, Phase 2
17 Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency Recruiting NCT02292654 Phase 1, Phase 2
18 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
19 Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency Active, not recruiting NCT02193867 Phase 2
20 QUILT-3.010: A Study of Gemcitabine and Nab-paclitaxel With or Without NPC-1C to Treat Patients With Pancreatic Cancer Active, not recruiting NCT01834235 Phase 1, Phase 2
21 A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Enrolling by invitation NCT02004704 Phase 2
22 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2
23 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1
24 Tolerability and Safety Study of Recombinant Human Acid Sphingomyelinase in Acid Sphingomyelinase Deficiency Patients Completed NCT01722526 Phase 1
25 Saccadic Eye Movements in Patients With Niemann-Pick Type C Disease Completed NCT00316498 Phase 1
26 Study of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1) Recruiting NCT02939547 Phase 1
27 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
28 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 Phase 1
29 Pilot Study of Ezetimibe for Chronic Hepatitis C Virus (HCV) Infection Recruiting NCT02126137 Phase 1
30 Safety Study of rhASM Enzyme Replacement Therapy in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease) Terminated NCT00410566 Phase 1
31 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
32 Study of Changes in Total Cholesterol Levels as a Function of Consuming a Supplement Designed to Improve Cardiovascular Health Unknown status NCT01890889
33 Longitudinal Study of Cognition With Niemann-Pick Disease, Type C Completed NCT01899950
34 A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C Completed NCT02435030
35 PET Scan of Brain Metabolism in Relation to Age and Disease Completed NCT00001972
36 Impact of a Short-Term High Fat or Low Fat Diet on Intestinal Genes Expression Involved in the Cholesterol and Fatty Acid Metabolism Completed NCT01806441
37 Plant Stanols and Gene Expression Profile Completed NCT01574417
38 Effects of N-3 Polyunsaturated Fatty Acids On Chylomicron Secretion And Expression Of Genes That Regulate Intestinal Lipid Metabolism In Men With Type 2 Diabetes Completed NCT01449773
39 Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C Recruiting NCT00344331
40 Biomarker for Niemann Pick Type C Disease Recruiting NCT01306604
41 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
42 Investigating Lysosomal Storage Diseases in Minority Groups Recruiting NCT02120235
43 Molecular and Cellular Mechanisms of Lysosomal Storage Diseases Recruiting NCT02000310
44 Screening of Niemann-Pick Disease, Type C in a Psychiatric Population Terminated NCT02841358

Search NIH Clinical Center for Niemann-Pick Disease, Type C1

Genetic Tests for Niemann-Pick Disease, Type C1

Genetic tests related to Niemann-Pick Disease, Type C1:

id Genetic test Affiliating Genes
1 Niemann-Pick Disease, Type C 29
2 Niemann-Pick Disease Type C1 29 24 NPC1
3 Niemann-Pick Disease, Type D 29

Anatomical Context for Niemann-Pick Disease, Type C1

MalaCards organs/tissues related to Niemann-Pick Disease, Type C1:

39
Bone, Liver, Bone Marrow, Lung, Adipocyte, Cerebellum, Olfactory Bulb

Publications for Niemann-Pick Disease, Type C1

Articles related to Niemann-Pick Disease, Type C1:

(show all 33)
id Title Authors Year
1
Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1. ( 28414792 )
2017
2
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
3
Increased Regenerative Capacity of the Olfactory Epithelium in Niemann-Pick Disease Type C1. ( 28383485 )
2017
4
Phenanthridin-6-one derivatives as the first class of non-steroidal pharmacological chaperones for Niemann-Pick disease type C1 protein. ( 28465104 )
2017
5
Association of NPC1 variant p.P237S with a pathogenic splice variant in two Niemann-Pick disease type C1 patients. ( 28328115 )
2017
6
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
7
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
8
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
9
Necroptosis in Niemann-Pick disease, type C1: a potential therapeutic target. ( 26986514 )
2016
10
Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1. ( 27798114 )
2016
11
Rescue of an in vitro neuron phenotype identified in Niemann-Pick disease, type C1 induced pluripotent stem cell-derived neurons by modulating the WNT pathway and calcium signaling. ( 25637190 )
2015
12
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. ( 25764212 )
2015
13
Misexpression of the Niemann-Pick disease type C1 (NPC1)-like protein in Arabidopsis causes sphingolipid accumulation and reproductive defects. ( 26007685 )
2015
14
Auditory phenotype of niemann-pick disease, type c1. ( 24225652 )
2014
15
The role of the niemann-pick disease, type c1 protein in adipocyte insulin action. ( 24752197 )
2014
16
Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1. ( 24235134 )
2014
17
Improved neuroprotection using miglustat, curcumin and ibuprofen as a triple combination therapy in Niemann-Pick disease type C1 mice. ( 24631719 )
2014
18
Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1. ( 23653225 )
2014
19
Excessive microglial activation aggravates olfactory dysfunction by impeding the survival of newborn neurons in the olfactory bulb of Niemann-Pick disease type C1 mice. ( 25132229 )
2014
20
Corpus Callosum Diffusion Tensor Imaging and Volume Measures Are Associated With Disease Severity in Pediatric Niemann-Pick Disease Type C1. ( 25194719 )
2014
21
Niemann-Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: An autopsy case. ( 23711246 )
2014
22
NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish. ( 23010472 )
2013
23
Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1. ( 23666527 )
2013
24
Altered transition metal homeostasis in Niemann-Pick disease, type C1. ( 24343124 )
2013
25
Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight. ( 23144710 )
2012
26
Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1. ( 22619379 )
2012
27
Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1. ( 23023945 )
2012
28
Morphological alterations of the cornea in the mouse model of niemann-pick disease type c1. ( 21317782 )
2011
29
Niemann-Pick disease type C1 presenting with psychosis in an adolescent male. ( 19267177 )
2009
30
Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1. ( 19632328 )
2009
31
Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. ( 18953351 )
2008
32
Chemical synthesis of the 3-sulfooxy-7-N-acetylglucosaminyl-24-amidated conjugates of 3beta,7beta-dihydroxy-5-cholen-24-oic acid, and related compounds: unusual, major metabolites of bile acid in a patient with Niemann-Pick disease type C1. ( 16197972 )
2006
33
Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage. ( 16086131 )
2005

Variations for Niemann-Pick Disease, Type C1

UniProtKB/Swiss-Prot genetic disease variations for Niemann-Pick Disease, Type C1:

66 (show top 50) (show all 151)
id Symbol AA change Variation ID SNP ID
1 NPC1 p.Cys177Gly VAR_008815
2 NPC1 p.Pro237Ser VAR_008817 rs80358251
3 NPC1 p.Ser473Pro VAR_008820
4 NPC1 p.His510Pro VAR_008821
5 NPC1 p.Arg518Gln VAR_008822 rs483352886
6 NPC1 p.Val889Met VAR_008826 rs120074130
7 NPC1 p.Gln928Pro VAR_008827 rs28940897
8 NPC1 p.Arg934Gln VAR_008828 rs786204714
9 NPC1 p.Ser940Leu VAR_008829 rs143124972
10 NPC1 p.Asp948Asn VAR_008830
11 NPC1 p.Ser954Leu VAR_008831 rs543206298
12 NPC1 p.Cys956Tyr VAR_008832
13 NPC1 p.Gly992Trp VAR_008833 rs80358254
14 NPC1 p.Pro1007Ala VAR_008834 rs80358257
15 NPC1 p.Thr1036Met VAR_008835 rs28942104
16 NPC1 p.Ile1061Thr VAR_008836 rs80358259
17 NPC1 p.Tyr1088Cys VAR_008837 rs28942106
18 NPC1 p.Asn1156Ser VAR_008838 rs28942105
19 NPC1 p.Phe1167Leu VAR_008839
20 NPC1 p.Arg1186His VAR_008840 rs200444084
21 NPC1 p.Leu1213Phe VAR_008841 rs120074131
22 NPC1 p.Leu1213Val VAR_008842 rs766178353
23 NPC1 p.Cys177Tyr VAR_015561 rs80358252
24 NPC1 p.Val378Ala VAR_015562 rs120074134
25 NPC1 p.Val950Met VAR_015563 rs120074135
26 NPC1 p.Arg958Gln VAR_015564 rs120074132
27 NPC1 p.Arg978Cys VAR_015565 rs28942108
28 NPC1 p.Gly992Arg VAR_015566 rs80358254
29 NPC1 p.Ala1035Val VAR_015567 rs28942107
30 NPC1 p.Cys63Arg VAR_043172 rs747049347
31 NPC1 p.Cys74Tyr VAR_043173
32 NPC1 p.Gln92Arg VAR_043174
33 NPC1 p.Cys113Arg VAR_043175 rs120074136
34 NPC1 p.Thr137Met VAR_043176 rs372947142
35 NPC1 p.Pro166Ser VAR_043178 rs866966704
36 NPC1 p.Asn222Ser VAR_043179 rs55680026
37 NPC1 p.Val231Gly VAR_043180
38 NPC1 p.Asp242His VAR_043181
39 NPC1 p.Asp242Asn VAR_043182
40 NPC1 p.Cys247Tyr VAR_043183
41 NPC1 p.Gly248Val VAR_043184
42 NPC1 p.Met272Arg VAR_043185
43 NPC1 p.Arg372Trp VAR_043187
44 NPC1 p.Leu380Phe VAR_043188
45 NPC1 p.Ala388Pro VAR_043190
46 NPC1 p.Arg389Cys VAR_043191
47 NPC1 p.Pro401Thr VAR_043192
48 NPC1 p.Arg404Pro VAR_043193
49 NPC1 p.Arg404Gln VAR_043194 rs139751448
50 NPC1 p.Arg404Trp VAR_043195

ClinVar genetic disease variations for Niemann-Pick Disease, Type C1:

6 (show top 50) (show all 84)
id Gene Variation Type Significance SNP ID Assembly Location
1 NPC1 NM_000271.4(NPC1): c.2783A> C (p.Gln928Pro) single nucleotide variant Pathogenic rs28940897 GRCh37 Chromosome 18, 21119787: 21119787
2 NPC1 NM_000271.4(NPC1): c.3467A> G (p.Asn1156Ser) single nucleotide variant Pathogenic rs28942105 GRCh37 Chromosome 18, 21115443: 21115443
3 NPC1 NM_000271.4(NPC1): c.2974G> T (p.Gly992Trp) single nucleotide variant Pathogenic rs80358254 GRCh37 Chromosome 18, 21118573: 21118573
4 NPC1 NPC1, 1553G-A single nucleotide variant Pathogenic
5 NPC1 NM_000271.4(NPC1): c.3019C> G (p.Pro1007Ala) single nucleotide variant Pathogenic rs80358257 GRCh37 Chromosome 18, 21118528: 21118528
6 NPC1 NM_000271.4(NPC1): c.3182T> C (p.Ile1061Thr) single nucleotide variant Pathogenic rs80358259 GRCh37 Chromosome 18, 21116700: 21116700
7 NPC1 NM_000271.4(NPC1): c.2873G> A (p.Arg958Gln) single nucleotide variant Pathogenic rs120074132 GRCh37 Chromosome 18, 21119357: 21119357
8 NPC1 NM_000271.4(NPC1): c.2974G> C (p.Gly992Arg) single nucleotide variant Pathogenic/Likely pathogenic rs80358254 GRCh37 Chromosome 18, 21118573: 21118573
9 NPC1 NM_000271.4(NPC1): c.1133T> C (p.Val378Ala) single nucleotide variant Pathogenic rs120074134 GRCh37 Chromosome 18, 21136400: 21136400
10 NPC1 NM_000271.4(NPC1): c.2848G> A (p.Val950Met) single nucleotide variant Pathogenic/Likely pathogenic rs120074135 GRCh37 Chromosome 18, 21119382: 21119382
11 NPC1 NM_000271.4(NPC1): c.3104C> T (p.Ala1035Val) single nucleotide variant Pathogenic/Likely pathogenic rs28942107 GRCh37 Chromosome 18, 21116778: 21116778
12 NPC1 NM_000271.4(NPC1): c.3591+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs786200877 GRCh38 Chromosome 18, 23534445: 23534445
13 NPC1 NM_000271.4(NPC1): c.530G> A (p.Cys177Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs80358252 GRCh37 Chromosome 18, 21141425: 21141425
14 NPC1 NPC1, IVS16, G-A, -82 single nucleotide variant Pathogenic
15 NPC1 NM_000271.4(NPC1): c.2932C> T (p.Arg978Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28942108 GRCh37 Chromosome 18, 21118615: 21118615
16 NPC1 NM_000271.4(NPC1): c.3662delT (p.Phe1221Serfs) deletion Pathogenic rs786200878 GRCh38 Chromosome 18, 23533447: 23533447
17 NPC1 NM_000271.4(NPC1): c.337T> C (p.Cys113Arg) single nucleotide variant Pathogenic rs120074136 GRCh37 Chromosome 18, 21148913: 21148913
18 NPC1 NM_000271.4(NPC1): c.3611_3614delTTAC (p.Leu1204Glnfs) deletion Pathogenic rs786200879 GRCh38 Chromosome 18, 23533495: 23533498
19 NPC1 NM_000271.4(NPC1): c.2324A> C (p.Gln775Pro) single nucleotide variant Pathogenic rs80358253 GRCh37 Chromosome 18, 21121319: 21121319
20 NPC1 NM_000271.4(NPC1): c.2974G> A (p.Gly992Arg) single nucleotide variant Pathogenic/Likely pathogenic rs80358254 GRCh37 Chromosome 18, 21118573: 21118573
21 NPC1 NM_000271.4(NPC1): c.3160G> A (p.Ala1054Thr) single nucleotide variant Pathogenic rs80358258 GRCh37 Chromosome 18, 21116722: 21116722
22 NPC1 NM_000271.4(NPC1): c.2196dupT (p.Pro733Serfs) duplication Pathogenic rs398123284 GRCh37 Chromosome 18, 21123468: 21123468
23 NPC1 NM_000271.4(NPC1): c.1030delT (p.Ser344Leufs) deletion Pathogenic rs483352883 GRCh38 Chromosome 18, 23556539: 23556539
24 NPC1 NM_000271.4(NPC1): c.1502A> T (p.Asp501Val) single nucleotide variant Pathogenic rs483352885 GRCh38 Chromosome 18, 23554809: 23554809
25 NPC1 NM_000271.4(NPC1): c.1553G> A (p.Arg518Gln) single nucleotide variant Pathogenic/Likely pathogenic rs483352886 GRCh38 Chromosome 18, 23554758: 23554758
26 NPC1 NM_000271.4(NPC1): c.1800delC (p.Ile601Phefs) deletion Pathogenic rs483352879 GRCh38 Chromosome 18, 23545107: 23545107
27 NPC1 NM_000271.4(NPC1): c.1832A> G (p.Asp611Gly) single nucleotide variant Pathogenic rs483352887 GRCh38 Chromosome 18, 23545075: 23545075
28 NPC1 NM_000271.4(NPC1): c.2054T> C (p.Ile685Thr) single nucleotide variant Pathogenic rs483352888 GRCh38 Chromosome 18, 23544420: 23544420
29 NPC1 NM_000271.4(NPC1): c.2128C> T (p.Gln710Ter) single nucleotide variant Pathogenic rs483352889 GRCh38 Chromosome 18, 23544346: 23544346
30 NPC1 NM_000271.4(NPC1): c.2177G> C (p.Arg726Thr) single nucleotide variant Pathogenic rs483352890 GRCh38 Chromosome 18, 23543523: 23543523
31 NPC1 NM_000271.4(NPC1): c.2230_2231delGT (p.Val744Serfs) deletion Pathogenic/Likely pathogenic rs483352882 GRCh38 Chromosome 18, 23543469: 23543470
32 NPC1 NM_000271.4(NPC1): c.2302dupG (p.Val768Glyfs) duplication Pathogenic rs483352881 GRCh38 Chromosome 18, 23541377: 23541377
33 NPC1 NM_000271.4(NPC1): c.2366G> A (p.Arg789His) single nucleotide variant Pathogenic rs483352891 GRCh38 Chromosome 18, 23541313: 23541313
34 NPC1 NM_000271.4(NPC1): c.2795dupA (p.Tyr932Terfs) duplication Pathogenic rs483352884 GRCh38 Chromosome 18, 23539811: 23539811
35 NPC1 NM_000271.4(NPC1): c.2912-3C> G single nucleotide variant Pathogenic rs483352892 GRCh38 Chromosome 18, 23538674: 23538674
36 NPC1 NM_000271.4(NPC1): c.416dupC (p.Asn140Lysfs) duplication Pathogenic rs483352880 GRCh38 Chromosome 18, 23568870: 23568870
37 NPC1 NM_000271.4(NPC1): c.2861C> T (p.Ser954Leu) single nucleotide variant Pathogenic/Likely pathogenic rs543206298 GRCh38 Chromosome 18, 23539405: 23539405
38 NPC1 NM_000271.4(NPC1): c.1628C> T (p.Pro543Leu) single nucleotide variant Likely pathogenic rs369368181 GRCh38 Chromosome 18, 23551653: 23551653
39 NPC1 NM_000271.4(NPC1): c.3614C> A (p.Thr1205Lys) single nucleotide variant Pathogenic/Likely pathogenic rs758902805 GRCh38 Chromosome 18, 23533495: 23533495
40 NPC1 NM_000271.4(NPC1): c.3557G> A (p.Arg1186His) single nucleotide variant Pathogenic/Likely pathogenic rs200444084 GRCh38 Chromosome 18, 23534480: 23534480
41 NPC1 NM_000271.4(NPC1): c.3175C> T (p.Arg1059Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204455 GRCh38 Chromosome 18, 23536743: 23536743
42 NPC1 NM_000271.4(NPC1): c.2893C> T (p.Gln965Ter) single nucleotide variant Likely pathogenic rs786204586 GRCh37 Chromosome 18, 21119337: 21119337
43 NPC1 NM_000271.4(NPC1): c.2819C> T (p.Ser940Leu) single nucleotide variant Likely pathogenic rs143124972 GRCh37 Chromosome 18, 21119411: 21119411
44 NPC1 NM_000271.4(NPC1): c.2801G> A (p.Arg934Gln) single nucleotide variant Likely pathogenic rs786204714 GRCh38 Chromosome 18, 23539465: 23539465
45 NPC1 NM_000271.4(NPC1): c.2764C> T (p.Gln922Ter) single nucleotide variant Likely pathogenic rs786204641 GRCh38 Chromosome 18, 23539842: 23539842
46 NPC1 NM_000271.4(NPC1): c.2761C> T (p.Gln921Ter) single nucleotide variant Likely pathogenic rs786204512 GRCh37 Chromosome 18, 21119809: 21119809
47 NPC1 NM_000271.4(NPC1): c.1947+2T> G single nucleotide variant Likely pathogenic rs764472245 GRCh38 Chromosome 18, 23544958: 23544958
48 NPC1 NM_000271.4(NPC1): c.1211G> A (p.Arg404Gln) single nucleotide variant Pathogenic/Likely pathogenic rs139751448 GRCh37 Chromosome 18, 21136322: 21136322
49 NPC1 NM_000271.4(NPC1): c.2621A> T (p.Asp874Val) single nucleotide variant Pathogenic rs372030650 GRCh37 Chromosome 18, 21119949: 21119949
50 NPC1 NM_000271.4(NPC1): c.1142G> A (p.Trp381Ter) single nucleotide variant Pathogenic/Likely pathogenic rs794727897 GRCh37 Chromosome 18, 21136391: 21136391

Expression for Niemann-Pick Disease, Type C1

Search GEO for disease gene expression data for Niemann-Pick Disease, Type C1.

Pathways for Niemann-Pick Disease, Type C1

GO Terms for Niemann-Pick Disease, Type C1

Cellular components related to Niemann-Pick Disease, Type C1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.88 APOD APP NPC2 PSAP SMPD1 SNCA
2 extracellular region GO:0005576 9.86 APOD APP HCRT NPC1 NPC2 PSAP
3 membrane raft GO:0045121 9.63 ABCA1 APP NPC1
4 growth cone GO:0030426 9.54 APP MAPT SNCA
5 lysosomal lumen GO:0043202 9.5 NPC2 PSAP SMPD1
6 postsynapse GO:0098794 9.48 HCRT SNCA
7 lysosome GO:0005764 9.35 NPC1 NPC2 PSAP SMPD1 SNCA
8 rough endoplasmic reticulum GO:0005791 9.33 APP HCRT SNCA
9 perinuclear region of cytoplasm GO:0048471 9.1 ABCA1 APOD APP HCRT NPC1 SNCA
10 plasma membrane GO:0005886 10.09 ABCA1 APP ASAH2 MAPT NPC1 NPC1L1

Biological processes related to Niemann-Pick Disease, Type C1 according to GeneCards Suite gene sharing:

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.73 ABCA1 APOD NPC1 NPC1L1 SMPD1 SNCA
2 lipid transport GO:0006869 9.71 APOD NPC1 NPC1L1 PSAP
3 lipid metabolic process GO:0006629 9.7 ABCA1 APOD ASAH2 NPC1 NPC1L1 NPC2
4 steroid metabolic process GO:0008202 9.67 ABCA1 NPC1 NPC1L1 NPC2
5 cholesterol homeostasis GO:0042632 9.65 ABCA1 NPC1 NPC2
6 synapse organization GO:0050808 9.61 APP MAPT SNCA
7 response to cocaine GO:0042220 9.58 SMPD1 SNCA
8 phospholipid transport GO:0015914 9.58 ABCA1 NPC2
9 sphingolipid metabolic process GO:0006665 9.57 ASAH2 PSAP
10 low-density lipoprotein particle clearance GO:0034383 9.56 NPC1 NPC2
11 regulation of neurotransmitter secretion GO:0046928 9.55 HCRT SNCA
12 microglial cell activation GO:0001774 9.54 MAPT SNCA
13 supramolecular fiber organization GO:0097435 9.52 MAPT SNCA
14 amyloid fibril formation GO:1990000 9.51 APP MAPT
15 cholesterol efflux GO:0033344 9.5 ABCA1 NPC1 NPC2
16 negative regulation of platelet-derived growth factor receptor signaling pathway GO:0010642 9.49 APOD SNCA
17 intracellular cholesterol transport GO:0032367 9.46 ABCA1 NPC2
18 cholesterol metabolic process GO:0008203 9.35 ABCA1 APP NPC1 NPC1L1 NPC2
19 cholesterol transport GO:0030301 8.92 ABCA1 NPC1 NPC1L1 NPC2

Molecular functions related to Niemann-Pick Disease, Type C1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.46 APP MAPT NPC2 SNCA
2 lipid transporter activity GO:0005319 9.32 APOD NPC1
3 apolipoprotein binding GO:0034185 9.26 ABCA1 MAPT
4 phospholipid binding GO:0005543 9.13 ABCA1 PSAP SNCA
5 cholesterol binding GO:0015485 8.92 ABCA1 APOD NPC1 NPC2

Sources for Niemann-Pick Disease, Type C1

3 CDC
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10 dbSNP
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16 ExPASy
18 FMA
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