NPC1
MCID: NMN015
MIFTS: 65

Niemann-Pick Disease, Type C1 (NPC1)

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

Aliases & Classifications for Niemann-Pick Disease, Type C1

MalaCards integrated aliases for Niemann-Pick Disease, Type C1:

Name: Niemann-Pick Disease, Type C1 57 13 38 73
Niemann-Pick Disease Type C1 38 12 53 29 6 15 40
Niemann-Pick Disease, Type C 57 53 29 6 44 73
Niemann-Pick Disease, Type D 57 29 6 73
Npc1 57 12 53 75
Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia 57 53 75
Niemann-Pick Disease with Cholesterol Esterification Block 57 53 75
Niemann-Pick Disease Without Sphingomyelinase Deficiency 57 75
Niemann-Pick Disease, Chronic Neuronopathic Form 57 53
Niemann-Pick Disease, Subacute Juvenile Form 57 53
Niemann-Pick Disease Type D 76 75
Niemann-Pick Disease Type C 24 37
Npc 57 75
Niemann-Pick Disease Chronic Neuronopathic Form 75
Niemann-Pick Disease Subacute Juvenile Form 75
Niemann-Pick Disease Nova Scotian Type 75
Niemann-Pick Disease, Type C; Npc 57
Juvenile Niemann-Pick Disease 24
Niemann-Pick Disease Type Ii 75
Niemann-Picks Disease Type C 55
Niemannpick Disease, Type C 76
Niemann-Pick Disease C1 75
Niemannpick C1 Disease 76

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
genetic heterogeneity (see npc2, )
disease usually becomes apparent in early childhood
death usually in teenage years
four major groups: early infantile, late infantile, juvenile, adult
earlier onset associated with faster progression and shorter life span
incidence of 1 in 150,000 live births in the general population
incidence of 1% in yarmouth county, nova scotia
estimated carrier frequency of 10-25% in yarmouth county, nova scotia
nova scotian variant (type d) is considered a genetic isolate of npc1 and is associated with a mutation in the npc1 gene


HPO:

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


Classifications:



Summaries for Niemann-Pick Disease, Type C1

OMIM : 57 Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene (601015), referred to as type C2 (607625). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006). Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; 257200), the visceral form (type B; 607616), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see 607616), and phenotypic variation within each group has also been described. (257220)

MalaCards based summary : Niemann-Pick Disease, Type C1, also known as niemann-pick disease type c1, is related to niemann-pick disease, type c2 and acid sphingomyelinase deficiency, and has symptoms including seizures, cerebellar ataxia and muscle spasticity. An important gene associated with Niemann-Pick Disease, Type C1 is NPC1 (NPC Intracellular Cholesterol Transporter 1), and among its related pathways/superpathways are Lysosome and Lipoprotein metabolism. The drugs Ezetimibe and Anticholesteremic Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and bone marrow, and related phenotypes are intellectual disability and seizures

Disease Ontology : 12 A Niemann-Pick disease that has material basis in an autosomal recessive mutation of NPC1 on chromosome 18q11.2.

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 646Disease definitionNiemann-Pick disease type C (NP-C) is a lysosomal lipid storage disease (see this term) characterized by variable clinical signs, depending on the age of onset, such as prolonged unexplained neonatal jaundice or cholestasis, isolated unexplained splenomegaly, and progressive, often severe neurological symptoms such as cognitive decline, cerebellar ataxia, vertical supranuclear gaze palsy (VSPG), dysarthria, dysphagia, dystonia, seizures, gelastic cataplexy, and psychiatric disorders.Visit the Orphanet disease page for more resources.

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Niemann�??Pick type C is a lysosomal storage disease associated with mutations in NPC1 and NPC2 genes.... more...

GeneReviews: NBK1296

Related Diseases for Niemann-Pick Disease, Type C1

Diseases in the Niemann-Pick Disease family:

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

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

(show top 50) (show all 79)
# Related Disease Score Top Affiliating Genes
1 niemann-pick disease, type c2 32.6 NPC1 NPC1L1 NPC2 SMPD1
2 acid sphingomyelinase deficiency 32.2 NPC1 SMPD1
3 niemann-pick disease, type a 31.8 NPC1 NPC2 SMPD1
4 sphingolipidosis 31.6 NPC1 NPC2 PSAP SMPD1
5 niemann-pick disease type c, severe perinatal form 31.6 NPC1 NPC2
6 niemann-pick disease type c, late infantile neurologic onset 31.6 NPC1 NPC2
7 niemann-pick disease type c, severe early infantile neurologic onset 31.6 NPC1 NPC2
8 niemann-pick disease type c, adult neurologic onset 31.6 NPC1 NPC2
9 niemann-pick disease, type b 31.5 ABCA1 NPC1 NPC2 SMPD1
10 niemann-pick disease type c, juvenile neurologic onset 31.5 NPC1 NPC2
11 lipid storage disease 31.5 NPC1 NPC2 PSAP SMPD1
12 niemann-pick disease 31.3 APOD NPC1 NPC1L1 NPC2 PSAP SMPD1
13 dementia 11.2
14 tangier disease 11.1
15 sandhoff disease 11.1
16 dystonia 11.1
17 multiple sulfatase deficiency 11.1
18 aceruloplasminemia 11.1
19 glycine n-methyltransferase deficiency 11.1
20 nasopharyngeal carcinoma 11.1
21 gangliosidosis gm2 11.1
22 ebola hemorrhagic fever 11.1
23 headache 11.1
24 inherited metabolic disorder 10.9
25 crohn's disease 10.4
26 gaucher's disease 10.4
27 schizophrenia 10.3
28 epilepsy 10.3
29 developmental coordination disorder 10.3
30 splenomegaly 10.3
31 myoclonus 10.3
32 developmental dyspraxia 10.3
33 dysphagia 10.3
34 lymphoproliferative syndrome, x-linked, 2 10.2
35 leukemia, acute lymphoblastic 10.2
36 leukemia 10.2
37 lymphocytic leukemia 10.2
38 alzheimer disease 10.2
39 hepatocellular carcinoma 10.2
40 multiple sclerosis 10.2
41 cystic fibrosis 10.2
42 infantile liver failure syndrome 1 10.2
43 bipolar disorder 10.2
44 brain injury 10.2
45 glomerulonephritis 10.2
46 hepatitis 10.2
47 hemopericardium 10.2
48 pericardial effusion 10.2
49 neuroaxonal dystrophy 10.2
50 membranoproliferative glomerulonephritis 10.2

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 via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
spasticity
dysarthria
dystonia
dementia
more
Abdomen Spleen:
splenomegaly

Neurologic Behavioral Psychiatric Manifestations:
psychosis
behavioral problems
poor school performance

Hematology:
foam cells on bone marrow biopsy
'sea-blue' histiocytes

Laboratory Abnormalities:
normal or mildly reduced sphingomyelinase activity
low cholesterol esterification rates
abnormal cholesterol homeostasis
foam cells in visceral organs and cns
foam cells contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy

Abdomen Gastrointestinal:
dysphagia

Abdomen Liver:
hepatomegaly
neonatal jaundice
fatal liver failure in infancy (occasional)

Head And Neck Eyes:
vertical supranuclear gaze palsy

Prenatal Manifestations:
fetal ascites


Clinical features from OMIM:

257220

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

32 (show all 38)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 occasional (7.5%) HP:0001250
3 ataxia 32 hallmark (90%) HP:0001251
4 muscular hypotonia 32 HP:0001252
5 spasticity 32 HP:0001257
6 dysarthria 32 frequent (33%) HP:0001260
7 gait disturbance 32 hallmark (90%) HP:0001288
8 tremor 32 occasional (7.5%) HP:0001337
9 dysphonia 32 frequent (33%) HP:0001618
10 dysphagia 32 frequent (33%) HP:0002015
11 chorea 32 occasional (7.5%) HP:0002072
12 sleep disturbance 32 frequent (33%) HP:0002360
13 developmental regression 32 hallmark (90%) HP:0002376
14 global developmental delay 32 hallmark (90%) HP:0001263
15 splenomegaly 32 frequent (33%) HP:0001744
16 hepatomegaly 32 hallmark (90%) HP:0002240
17 cognitive impairment 32 hallmark (90%) HP:0100543
18 ascites 32 occasional (7.5%) HP:0001541
19 aplasia/hypoplasia of the abdominal wall musculature 32 frequent (33%) HP:0010318
20 dystonia 32 hallmark (90%) HP:0001332
21 jaundice 32 hallmark (90%) HP:0000952
22 psychosis 32 HP:0000709
23 dementia 32 HP:0000726
24 prolonged neonatal jaundice 32 HP:0006579
25 generalized hypotonia 32 HP:0001290
26 neurofibrillary tangles 32 HP:0002185
27 neuronal loss in central nervous system 32 HP:0002529
28 vertical supranuclear gaze palsy 32 HP:0000511
29 loss of speech 32 HP:0002371
30 sea-blue histiocytosis 32 HP:0001982
31 fatal liver failure in infancy 32 HP:0006583
32 bone-marrow foam cells 32 HP:0004333
33 cataplexy 32 HP:0002524
34 fetal ascites 32 HP:0001791
35 low cholesterol esterification rates 32 HP:0003349
36 abnormal cholesterol homeostasis 32 HP:0003464
37 foam cells in visceral organs and cns 32 HP:0003640
38 abnormal pyramidal sign 32 occasional (7.5%) HP:0007256

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


seizures, cerebellar ataxia, muscle spasticity

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 APOD APP B4GALNT1 HCRT NPC1 NPC2
2 growth/size/body region MP:0005378 9.97 ABCA1 APP HCRT NPC1 NPC1L1 NPC2
3 homeostasis/metabolism MP:0005376 9.96 ABCA1 APOD APP HCRT NPC1 NPC1L1
4 nervous system MP:0003631 9.65 ABCA1 APOD APP B4GALNT1 HCRT NPC1
5 liver/biliary system MP:0005370 9.63 ABCA1 NPC1 NPC1L1 NPC2 PSAP SMPD1
6 respiratory system MP:0005388 9.17 ABCA1 B4GALNT1 HCRT NPC1 NPC2 PSAP

Drugs & Therapeutics for Niemann-Pick Disease, Type C1

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

(show all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ezetimibe Approved Phase 4,Phase 3,Phase 1,Not Applicable 163222-33-1 150311
2 Anticholesteremic Agents Phase 4,Phase 3,Phase 1,Not Applicable
3 Lipid Regulating Agents Phase 4,Phase 3,Phase 1,Not Applicable
4 Liver Extracts Phase 4,Phase 1,Phase 2
5 Antimetabolites Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
6 Hypolipidemic Agents Phase 4,Phase 3,Phase 1,Not Applicable
7 insulin Phase 3,Not Applicable
8 Insulin, Globin Zinc Phase 3,Not Applicable
9
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
10
Pancrelipase Approved, Investigational Phase 1, Phase 2,Phase 2 53608-75-6
11
Lithium carbonate Approved Phase 1, Phase 2 554-13-2
12
Gemcitabine Approved Phase 1, Phase 2 95058-81-4 60750
13
Paclitaxel Approved, Vet_approved Phase 1, Phase 2 33069-62-4 36314
14
Glycine Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 56-40-6 750
15
Betadex Experimental Phase 1, Phase 2,Phase 2 7585-39-9 320761
16 Histone Deacetylase Inhibitors Phase 1, Phase 2
17 Antibodies, Monoclonal Phase 1, Phase 2
18 Immunologic Factors Phase 1, Phase 2,Phase 2
19 pancreatin Phase 1, Phase 2,Phase 2
20 Immunoglobulins Phase 1, Phase 2
21 Antibodies Phase 1, Phase 2
22 Cola Phase 1, Phase 2
23 Antidepressive Agents Phase 1, Phase 2
24 Psychotropic Drugs Phase 1, Phase 2
25 Antimanic Agents Phase 1, Phase 2
26 Tranquilizing Agents Phase 1, Phase 2
27 Central Nervous System Depressants Phase 1, Phase 2
28
Bilirubin Phase 1, Phase 2 635-65-4 5280352
29 Antiviral Agents Phase 1, Phase 2
30 Antimetabolites, Antineoplastic Phase 1, Phase 2
31 Antineoplastic Agents, Phytogenic Phase 1, Phase 2
32 Immunosuppressive Agents Phase 1, Phase 2
33 Albumin-Bound Paclitaxel Phase 1, Phase 2
34 Antimitotic Agents Phase 1, Phase 2
35 Anti-Infective Agents Phase 1, Phase 2
36 Hematinics
37 Phytosterol Not Applicable
38 Omega 3 Fatty Acid Not Applicable
39 Soy Bean Not Applicable
40 Trace Elements Not Applicable
41
beta-Cryptoxanthin Not Applicable 472-70-8 6384256
42 Vitamins Not Applicable
43 Micronutrients Not Applicable
44 Provitamins Not Applicable

Interventional clinical trials:

(show all 26)
# Name Status NCT ID Phase Drugs
1 Study of Ezetimibe for Chronic Hepatitis C Virus (HCV) Infection in Liver Transplant Candidates (EZE-2) Unknown status NCT02768545 Phase 4 Ezetimibe
2 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 Ezetimibe;Placebo
3 Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) to Treat Niemann-Pick Type C1 (NPC1) Disease Active, not recruiting NCT02534844 Phase 2, Phase 3 VTS-270;Sham Procedure Control
4 Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type C Active, not recruiting NCT02612129 Phase 2, Phase 3 arimoclomol;Placebo
5 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
6 QUILT-3.019: Phase 2 Study of NPC-1C Chimeric Monoclonal Antibody to Treat Pancreatic and Colorectal Cancer Completed NCT01040000 Phase 1, Phase 2 NPC-1C/NEO-102
7 Study of Pharmacokinetics and Preliminary Efficacy in Patients With Niemann-Pick C1 Recruiting NCT02912793 Phase 1, Phase 2 Hydroxypropyl-beta-cyclodextrin
8 Study of Lithium Carbonate to Treat Niemann-Pick Type C1 Disease Recruiting NCT03201627 Phase 1, Phase 2 Lithium Carbonate
9 Study of IV VTS-270 for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C Recruiting NCT03471143 Phase 1, Phase 2 2-Hydroxypropyl-Beta-Cyclodextrin
10 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 Gemcitabine;nab-paclitaxel;NPC-1C
11 Pilot Study of Ezetimibe for Chronic Hepatitis C Virus (HCV) Infection Unknown status NCT02126137 Phase 1 Ezetimibe
12 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1 VTS-270
13 Study of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1) Recruiting NCT02939547 Phase 1 Hydroxypropyl-beta-cyclodextrin
14 Study of Changes in Total Cholesterol Levels as a Function of Consuming a Supplement Designed to Improve Cardiovascular Health Unknown status NCT01890889 Not Applicable
15 Fatty Acids Lipidome and Oxidative Stress in Liver Transplantation Unknown status NCT01389115
16 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 Not Applicable
17 Plant Stanols and Gene Expression Profile Completed NCT01574417 Not Applicable
18 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 Not Applicable
19 Effects of Polyunsaturated Fatty Acids on Intestinal Lipid Metabolism in Insulin-resistant Men Completed NCT01934543 Not Applicable
20 Study of the Relationships Between Apolipoprotein B-48 Kinetics and Expression of Genes That Regulate Intestinal Lipid Metabolism in Men With the Metabolic Syndrome (SMB48) Completed NCT01829945
21 Effects of Medium-Chain Triglycerides on Chylomicron Secretion and Expression of Genes That Regulate Intestinal Lipid Metabolism in Men With Dyslipidemia Associated With the Metabolic Syndrome Completed NCT01806142 Not Applicable
22 A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C Completed NCT02435030
23 Biomarker for Niemann Pick Type C Disease Recruiting NCT01306604
24 Effect of β-cryptoxanthin (β-Cx), Plant Sterols and Galactooligosaccharides on Systemic and Gastrointestinal Markers Active, not recruiting NCT03469518 Not Applicable
25 An Open-label Treatment Protocol for VTS-270 in Patients With Neurologic Manifestations of NPC Available NCT03643562 VTS270
26 Screening of Niemann-Pick Disease, Type C in a Psychiatric Population Terminated NCT02841358 Not Applicable

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

Cochrane evidence based reviews: niemann-pick disease, type c

Genetic Tests for Niemann-Pick Disease, Type C1

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

# Genetic test Affiliating Genes
1 Niemann-Pick Disease, Type C 29
2 Niemann-Pick Disease Type C1 29 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:

41
Liver, Bone, Bone Marrow, Eye, Brain, Cerebellum, Heart

Publications for Niemann-Pick Disease, Type C1

Articles related to Niemann-Pick Disease, Type C1:

(show all 50)
# Title Authors Year
1
Correction: Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1. ( 29390035 )
2018
2
Gait, Balance, and Coordination Impairments in Niemann Pick Disease, Type C1. ( 29246094 )
2018
3
LC3 Immunostaining in the Inferior Olivary Nuclei of Cats With Niemann-Pick Disease Type C1 Is Associated With Patterned Purkinje Cell Loss. ( 29346563 )
2018
4
Gastrointestinal Tract Pathology in a BALB/c Niemann-Pick Disease Type C1 Null Mouse Model. ( 29357083 )
2018
5
Crohn's Disease in Niemann-Pick Disease Type C1: Caught in the Cross-Fire of Host-Microbial Interactions. ( 29411209 )
2018
6
Evaluation of Two Liver Treatment Strategies in a Mouse Model of Niemann-Pick-Disease Type C1. ( 29587349 )
2018
7
Niemann-Pick Disease, Type C1 Gene Expression in PBMCs is Associated with Interleukin 10 Serum Concentration: a Case-Control Study. ( 29479887 )
2018
8
Microglia activation in Niemann-Pick disease, type C1 is amendable to therapeutic intervention. ( 29617956 )
2018
9
Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for in vivo screening of candidate therapeutic compounds. ( 30135069 )
2018
10
Mass spectrometry imaging of lipids: untargeted consensus spectra reveal spatial distributions in Niemann-Pick disease type C1. ( 30266834 )
2018
11
Necroptosis inhibition as a therapy for Niemann-Pick disease, type C1: Inhibition of RIP kinases and combination therapy with 2-hydroxypropyl-β-cyclodextrin. ( 30392741 )
2018
12
Main Olfactory and Vomeronasal Epithelium Are Differently Affected in Niemann-Pick Disease Type C1. ( 30424529 )
2018
13
2-hydroxypropyl-I^-cyclodextrins and the Blood-Brain Barrier: Considerations for Niemann-Pick Disease Type C1. ( 29065825 )
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 hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1. ( 28414792 )
2017
16
Increased Regenerative Capacity of the Olfactory Epithelium in Niemann-Pick Disease Type C1. ( 28383485 )
2017
17
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
18
Analytical Characterization of Methyl-I^-Cyclodextrin for Pharmacological Activity to Reduce Lysosomal Cholesterol Accumulation in Niemann-Pick Disease Type C1 Cells. ( 28631941 )
2017
19
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
20
Phenanthridin-6-one derivatives as the first class of non-steroidal pharmacological chaperones for Niemann-Pick disease type C1 protein. ( 28465104 )
2017
21
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
22
Necroptosis in Niemann-Pick disease, type C1: a potential therapeutic target. ( 26986514 )
2016
23
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
24
Role of Diffusion Tensor Imaging in Prognostication and Treatment Monitoring in Niemann-Pick Disease Type C1. ( 28933409 )
2016
25
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
26
Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1. ( 27798114 )
2016
27
Cohort study of neurocognitive functioning and adaptive behaviour in children and adolescents with Niemann-Pick Disease type C1. ( 26586413 )
2016
28
Misexpression of the Niemann-Pick disease type C1 (NPC1)-like protein in Arabidopsis causes sphingolipid accumulation and reproductive defects. ( 26007685 )
2015
29
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
30
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. ( 25764212 )
2015
31
Auditory phenotype of niemann-pick disease, type c1. ( 24225652 )
2014
32
Improved neuroprotection using miglustat, curcumin and ibuprofen as a triple combination therapy in Niemann-Pick disease type C1 mice. ( 24631719 )
2014
33
The role of the niemann-pick disease, type c1 protein in adipocyte insulin action. ( 24752197 )
2014
34
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
35
Niemann-Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: An autopsy case. ( 23711246 )
2014
36
Corpus Callosum Diffusion Tensor Imaging and Volume Measures Are Associated With Disease Severity in Pediatric Niemann-Pick Disease Type C1. ( 25194719 )
2014
37
Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1. ( 24235134 )
2014
38
Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1. ( 23653225 )
2014
39
Altered transition metal homeostasis in Niemann-Pick disease, type C1. ( 24343124 )
2013
40
Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1. ( 23666527 )
2013
41
NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish. ( 23010472 )
2013
42
Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1. ( 22619379 )
2012
43
Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight. ( 23144710 )
2012
44
Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1. ( 23023945 )
2012
45
Morphological alterations of the cornea in the mouse model of niemann-pick disease type c1. ( 21317782 )
2011
46
Niemann-Pick disease type C1 presenting with psychosis in an adolescent male. ( 19267177 )
2009
47
Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1. ( 19632328 )
2009
48
Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. ( 18953351 )
2008
49
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
50
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:

75 (show top 50) (show all 150)
# Symbol AA change Variation ID SNP ID
1 NPC1 p.Cys177Gly VAR_008815
2 NPC1 p.Ser473Pro VAR_008820
3 NPC1 p.His510Pro VAR_008821
4 NPC1 p.Arg518Gln VAR_008822 rs483352886
5 NPC1 p.Val889Met VAR_008826 rs120074130
6 NPC1 p.Gln928Pro VAR_008827 rs28940897
7 NPC1 p.Arg934Gln VAR_008828 rs786204714
8 NPC1 p.Ser940Leu VAR_008829 rs143124972
9 NPC1 p.Asp948Asn VAR_008830
10 NPC1 p.Ser954Leu VAR_008831 rs543206298
11 NPC1 p.Cys956Tyr VAR_008832
12 NPC1 p.Gly992Trp VAR_008833 rs80358254
13 NPC1 p.Pro1007Ala VAR_008834 rs80358257
14 NPC1 p.Thr1036Met VAR_008835 rs28942104
15 NPC1 p.Ile1061Thr VAR_008836 rs80358259
16 NPC1 p.Tyr1088Cys VAR_008837 rs28942106
17 NPC1 p.Asn1156Ser VAR_008838 rs28942105
18 NPC1 p.Phe1167Leu VAR_008839
19 NPC1 p.Arg1186His VAR_008840 rs200444084
20 NPC1 p.Leu1213Phe VAR_008841 rs120074131
21 NPC1 p.Leu1213Val VAR_008842 rs766178353
22 NPC1 p.Cys177Tyr VAR_015561 rs80358252
23 NPC1 p.Val378Ala VAR_015562 rs120074134
24 NPC1 p.Val950Met VAR_015563 rs120074135
25 NPC1 p.Arg958Gln VAR_015564 rs120074132
26 NPC1 p.Arg978Cys VAR_015565 rs28942108
27 NPC1 p.Gly992Arg VAR_015566 rs80358254
28 NPC1 p.Ala1035Val VAR_015567 rs28942107
29 NPC1 p.Cys63Arg VAR_043172 rs747049347
30 NPC1 p.Cys74Tyr VAR_043173
31 NPC1 p.Gln92Arg VAR_043174
32 NPC1 p.Cys113Arg VAR_043175 rs120074136
33 NPC1 p.Thr137Met VAR_043176 rs372947142
34 NPC1 p.Pro166Ser VAR_043178 rs866966704
35 NPC1 p.Asn222Ser VAR_043179 rs55680026
36 NPC1 p.Val231Gly VAR_043180
37 NPC1 p.Asp242His VAR_043181
38 NPC1 p.Asp242Asn VAR_043182
39 NPC1 p.Cys247Tyr VAR_043183
40 NPC1 p.Gly248Val VAR_043184
41 NPC1 p.Met272Arg VAR_043185
42 NPC1 p.Arg372Trp VAR_043187
43 NPC1 p.Leu380Phe VAR_043188
44 NPC1 p.Ala388Pro VAR_043190
45 NPC1 p.Arg389Cys VAR_043191 rs105332182
46 NPC1 p.Pro401Thr VAR_043192
47 NPC1 p.Arg404Pro VAR_043193
48 NPC1 p.Arg404Gln VAR_043194 rs139751448
49 NPC1 p.Arg404Trp VAR_043195
50 NPC1 p.Pro433Leu VAR_043196 rs106479379

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

6 (show top 50) (show all 649)
# Gene Variation Type Significance SNP ID Assembly Location
1 NPC1 NPC1, 1553G-A single nucleotide variant Pathogenic
2 NPC1 NM_000271.4(NPC1): c.2783A> C (p.Gln928Pro) single nucleotide variant Pathogenic rs28940897 GRCh37 Chromosome 18, 21119787: 21119787
3 NPC1 NM_000271.4(NPC1): c.2783A> C (p.Gln928Pro) single nucleotide variant Pathogenic rs28940897 GRCh38 Chromosome 18, 23539823: 23539823
4 NPC1 NM_000271.4(NPC1): c.3107C> T (p.Thr1036Met) single nucleotide variant Conflicting interpretations of pathogenicity rs28942104 GRCh37 Chromosome 18, 21116775: 21116775
5 NPC1 NM_000271.4(NPC1): c.3107C> T (p.Thr1036Met) single nucleotide variant Conflicting interpretations of pathogenicity rs28942104 GRCh38 Chromosome 18, 23536811: 23536811
6 NPC1 NM_000271.4(NPC1): c.3467A> G (p.Asn1156Ser) single nucleotide variant Pathogenic rs28942105 GRCh37 Chromosome 18, 21115443: 21115443
7 NPC1 NM_000271.4(NPC1): c.3467A> G (p.Asn1156Ser) single nucleotide variant Pathogenic rs28942105 GRCh38 Chromosome 18, 23535479: 23535479
8 NPC1 NM_000271.4(NPC1): c.2974G> T (p.Gly992Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs80358254 GRCh37 Chromosome 18, 21118573: 21118573
9 NPC1 NM_000271.4(NPC1): c.2974G> T (p.Gly992Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs80358254 GRCh38 Chromosome 18, 23538609: 23538609
10 NPC1 NM_000271.4(NPC1): c.3044_3097del54 deletion Likely pathogenic rs797044431 GRCh38 Chromosome 18, 23536878: 23536878
11 NPC1 NM_000271.4(NPC1): c.3044_3097del54 deletion Likely pathogenic rs797044431 GRCh37 Chromosome 18, 21116842: 21116842
12 NPC1 NM_000271.4(NPC1): c.3019C> G (p.Pro1007Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs80358257 GRCh37 Chromosome 18, 21118528: 21118528
13 NPC1 NM_000271.4(NPC1): c.3019C> G (p.Pro1007Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs80358257 GRCh38 Chromosome 18, 23538564: 23538564
14 NPC1 NM_000271.4(NPC1): c.3182T> C (p.Ile1061Thr) single nucleotide variant Pathogenic rs80358259 GRCh37 Chromosome 18, 21116700: 21116700
15 NPC1 NM_000271.4(NPC1): c.3182T> C (p.Ile1061Thr) single nucleotide variant Pathogenic rs80358259 GRCh38 Chromosome 18, 23536736: 23536736
16 NPC1 NM_000271.4(NPC1): c.2873G> A (p.Arg958Gln) single nucleotide variant Pathogenic rs120074132 GRCh37 Chromosome 18, 21119357: 21119357
17 NPC1 NM_000271.4(NPC1): c.2873G> A (p.Arg958Gln) single nucleotide variant Pathogenic rs120074132 GRCh38 Chromosome 18, 23539393: 23539393
18 NPC1 NM_000271.4(NPC1): c.2974G> C (p.Gly992Arg) single nucleotide variant Pathogenic/Likely pathogenic rs80358254 GRCh37 Chromosome 18, 21118573: 21118573
19 NPC1 NM_000271.4(NPC1): c.2974G> C (p.Gly992Arg) single nucleotide variant Pathogenic/Likely pathogenic rs80358254 GRCh38 Chromosome 18, 23538609: 23538609
20 NPC1 NM_000271.4(NPC1): c.1133T> C (p.Val378Ala) single nucleotide variant Pathogenic rs120074134 GRCh37 Chromosome 18, 21136400: 21136400
21 NPC1 NM_000271.4(NPC1): c.1133T> C (p.Val378Ala) single nucleotide variant Pathogenic rs120074134 GRCh38 Chromosome 18, 23556436: 23556436
22 NPC1 NM_000271.4(NPC1): c.2848G> A (p.Val950Met) single nucleotide variant Pathogenic/Likely pathogenic rs120074135 GRCh37 Chromosome 18, 21119382: 21119382
23 NPC1 NM_000271.4(NPC1): c.2848G> A (p.Val950Met) single nucleotide variant Pathogenic/Likely pathogenic rs120074135 GRCh38 Chromosome 18, 23539418: 23539418
24 NPC1 NM_000271.4(NPC1): c.3104C> T (p.Ala1035Val) single nucleotide variant Pathogenic/Likely pathogenic rs28942107 GRCh37 Chromosome 18, 21116778: 21116778
25 NPC1 NM_000271.4(NPC1): c.3104C> T (p.Ala1035Val) single nucleotide variant Pathogenic/Likely pathogenic rs28942107 GRCh38 Chromosome 18, 23536814: 23536814
26 NPC1 NM_000271.4(NPC1): c.3591+1G> A single nucleotide variant Likely pathogenic rs786200877 GRCh38 Chromosome 18, 23534445: 23534445
27 NPC1 NM_000271.4(NPC1): c.3591+1G> A single nucleotide variant Likely pathogenic rs786200877 GRCh37 Chromosome 18, 21114409: 21114409
28 NPC1 NM_000271.4(NPC1): c.530G> A (p.Cys177Tyr) single nucleotide variant Likely pathogenic rs80358252 GRCh37 Chromosome 18, 21141425: 21141425
29 NPC1 NM_000271.4(NPC1): c.530G> A (p.Cys177Tyr) single nucleotide variant Likely pathogenic rs80358252 GRCh38 Chromosome 18, 23561461: 23561461
30 NPC1 NPC1, IVS16, G-A, -82 single nucleotide variant Pathogenic
31 NPC1 NM_000271.4(NPC1): c.2932C> T (p.Arg978Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28942108 GRCh37 Chromosome 18, 21118615: 21118615
32 NPC1 NM_000271.4(NPC1): c.2932C> T (p.Arg978Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28942108 GRCh38 Chromosome 18, 23538651: 23538651
33 NPC1 NM_000271.4(NPC1): c.3662delT (p.Phe1221Serfs) deletion Pathogenic rs786200878 GRCh38 Chromosome 18, 23533447: 23533447
34 NPC1 NM_000271.4(NPC1): c.3662delT (p.Phe1221Serfs) deletion Pathogenic rs786200878 GRCh37 Chromosome 18, 21113411: 21113411
35 NPC1 NM_000271.4(NPC1): c.337T> C (p.Cys113Arg) single nucleotide variant Pathogenic rs120074136 GRCh37 Chromosome 18, 21148913: 21148913
36 NPC1 NM_000271.4(NPC1): c.337T> C (p.Cys113Arg) single nucleotide variant Pathogenic rs120074136 GRCh38 Chromosome 18, 23568949: 23568949
37 NPC1 NM_000271.4(NPC1): c.3611_3614delTTAC (p.Leu1204Glnfs) deletion Pathogenic rs786200879 GRCh38 Chromosome 18, 23533495: 23533498
38 NPC1 NM_000271.4(NPC1): c.3611_3614delTTAC (p.Leu1204Glnfs) deletion Pathogenic rs786200879 GRCh37 Chromosome 18, 21113459: 21113462
39 NPC2 NM_006432.3(NPC2): c.58G> T (p.Glu20Ter) single nucleotide variant Pathogenic rs80358260 GRCh37 Chromosome 14, 74959920: 74959920
40 NPC2 NM_006432.3(NPC2): c.58G> T (p.Glu20Ter) single nucleotide variant Pathogenic rs80358260 GRCh38 Chromosome 14, 74493217: 74493217
41 NPC1 NM_000271.4(NPC1): c.1926G= (p.Met642=) single nucleotide variant Benign rs1788799 GRCh37 Chromosome 18, 21124945: 21124945
42 NPC1 NM_000271.4(NPC1): c.1926G= (p.Met642=) single nucleotide variant Benign rs1788799 GRCh38 Chromosome 18, 23544981: 23544981
43 NPC1 NM_000271.4(NPC1): c.2324A> C (p.Gln775Pro) single nucleotide variant Pathogenic rs80358253 GRCh37 Chromosome 18, 21121319: 21121319
44 NPC1 NM_000271.4(NPC1): c.2324A> C (p.Gln775Pro) single nucleotide variant Pathogenic rs80358253 GRCh38 Chromosome 18, 23541355: 23541355
45 NPC1 NM_000271.4(NPC1): c.2572A> G (p.Ile858Val) single nucleotide variant Benign rs1805082 GRCh37 Chromosome 18, 21120444: 21120444
46 NPC1 NM_000271.4(NPC1): c.2572A> G (p.Ile858Val) single nucleotide variant Benign rs1805082 GRCh38 Chromosome 18, 23540480: 23540480
47 NPC1 NM_000271.4(NPC1): c.2793C> T (p.Asn931=) single nucleotide variant Benign rs1140458 GRCh37 Chromosome 18, 21119777: 21119777
48 NPC1 NM_000271.4(NPC1): c.2793C> T (p.Asn931=) single nucleotide variant Benign rs1140458 GRCh38 Chromosome 18, 23539813: 23539813
49 NPC1 NM_000271.4(NPC1): c.2974G> A (p.Gly992Arg) single nucleotide variant Pathogenic/Likely pathogenic rs80358254 GRCh37 Chromosome 18, 21118573: 21118573
50 NPC1 NM_000271.4(NPC1): c.2974G> A (p.Gly992Arg) single nucleotide variant Pathogenic/Likely pathogenic rs80358254 GRCh38 Chromosome 18, 23538609: 23538609

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

Pathways related to Niemann-Pick Disease, Type C1 according to KEGG:

37
# Name Kegg Source Accession
1 Lysosome hsa04142

GO Terms for Niemann-Pick Disease, Type C1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.91 APOD APP HCRT NPC1 NPC2 PSAP
2 extracellular exosome GO:0070062 9.87 APOD APP MIR143 NPC1 NPC2 PSAP
3 lysosome GO:0005764 9.56 NPC1 NPC2 PSAP SMPD1
4 perinuclear region of cytoplasm GO:0048471 9.55 ABCA1 APOD APP HCRT NPC1
5 extracellular space GO:0005615 9.23 APOD APP MIR143 MIR98 NPC2 PSAP
6 lysosomal lumen GO:0043202 9.13 NPC2 PSAP SMPD1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.83 ABCA1 APOD NPC1 NPC1L1 SMPD1
2 lipid metabolic process GO:0006629 9.8 ABCA1 APOD B4GALNT1 NPC1 NPC1L1 NPC2
3 steroid metabolic process GO:0008202 9.71 ABCA1 NPC1 NPC1L1 NPC2
4 cholesterol homeostasis GO:0042632 9.65 ABCA1 NPC1 NPC2
5 glycosphingolipid metabolic process GO:0006687 9.63 B4GALNT1 PSAP SMPD1
6 sphingolipid metabolic process GO:0006665 9.55 B4GALNT1 PSAP
7 cholesterol metabolic process GO:0008203 9.55 ABCA1 APP NPC1 NPC1L1 NPC2
8 negative regulation of smooth muscle cell proliferation GO:0048662 9.54 APOD MIR143
9 cholesterol efflux GO:0033344 9.54 ABCA1 NPC1 NPC2
10 lipoprotein metabolic process GO:0042157 9.52 ABCA1 NPC1L1
11 low-density lipoprotein particle clearance GO:0034383 9.51 NPC1 NPC2
12 intracellular cholesterol transport GO:0032367 9.5 ABCA1 NPC1 NPC2
13 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.49 ABCA1 NPC1
14 cholesterol transport GO:0030301 9.26 ABCA1 NPC1 NPC1L1 NPC2
15 lipid transport GO:0006869 9.1 ABCA1 APOD NPC1 NPC1L1 NPC2 PSAP

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

# Name GO ID Score Top Affiliating Genes
1 phospholipid binding GO:0005543 9.33 ABCA1 PSAP SPTBN2
2 cholesterol transporter activity GO:0017127 9.26 ABCA1 NPC2
3 lipid transporter activity GO:0005319 9.13 ABCA1 APOD NPC1
4 cholesterol binding GO:0015485 8.92 ABCA1 APOD NPC1 NPC2

Sources for Niemann-Pick Disease, Type C1

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