NPC1
MCID: NMN015
MIFTS: 68

Niemann-Pick Disease, Type C1 (NPC1)

Categories: Eye diseases, Genetic diseases, Liver diseases, Mental 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 37 71
Niemann-Pick Disease, Type C 57 74 20 29 6 44 71
Niemann-Pick Disease Type C1 12 20 29 6 15 39
Niemann-Pick Disease, Type D 57 29 6 71
Npc1 57 12 20 73
Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia 57 20 73
Niemann-Pick Disease with Cholesterol Esterification Block 57 20 73
Niemann-Pick Disease, Subacute Juvenile Form 57 20 6
Niemann-Pick Disease Type C 25 58 36
Niemann-Pick Disease Without Sphingomyelinase Deficiency 57 73
Niemann-Pick Disease, Chronic Neuronopathic Form 57 20
Niemann-Pick Disease Type D 74 73
Npc 57 73
Niemann-Pick Disease Chronic Neuronopathic Form 73
Niemann-Pick Disease Subacute Juvenile Form 73
Niemann-Pick Disease Nova Scotian Type 73
Niemann-Pick Disease, Type C; Npc 57
Niemann-Pick Disease Type Ii 73
Niemann-Picks Disease Type C 54
Niemann-Pick C1 Disease 74
Niemann-Pick Disease C1 73

Characteristics:

Orphanet epidemiological data:

58
niemann-pick disease type c
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/1000000 (France),1-9/1000000 (Sweden); Age of onset: All ages;

OMIM®:

57 (Updated 05-Mar-2021)
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:

31
niemann-pick disease, type c1:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare respiratory diseases
Inborn errors of metabolism


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) (Updated 05-Mar-2021)

MalaCards based summary : Niemann-Pick Disease, Type C1, also known as niemann-pick disease, type c, is related to niemann-pick disease type c, juvenile neurologic onset and niemann-pick disease type c, adult neurologic onset, and has symptoms including seizures, muscle spasticity and cerebellar ataxia. 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 Miglustat and Anti-HIV Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and bone marrow, and related phenotypes are dysphagia and hepatomegaly

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

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 646DefinitionNiemann-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.

KEGG : 36 Niemann-Pick disease type C is an autosomal recessive lysosomal lipid storage disorder caused by a defect of NPC1 or NPC2 involved in cholesterol trafficking. The disease is characterized by neurodegeneration starting from early life. While NPC1 is a lysosomal transmembrane protein involved in shuttling of substrates to the Golgi and possibly elsewhere in cells, NPC2 is a soluble lysosomal protein known to bind cholesterol.

UniProtKB/Swiss-Prot : 73 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 : 74 Niemann-Pick type C (NPC) is a lysosomal storage disease associated with mutations in NPC1 and NPC2... 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 285)
# Related Disease Score Top Affiliating Genes
1 niemann-pick disease type c, juvenile neurologic onset 33.1 NPC2 NPC1
2 niemann-pick disease type c, adult neurologic onset 33.1 NPC2 NPC1
3 niemann-pick disease type c, severe early infantile neurologic onset 32.8 NPC2 NPC1
4 niemann-pick disease type c, late infantile neurologic onset 32.8 NPC2 NPC1
5 niemann-pick disease type c, severe perinatal form 32.8 NPC2 NPC1
6 sandhoff disease 32.0 SMPD1 PSAP NPC2 NPC1
7 mucolipidosis 31.9 SMPD1 PSAP NPC1
8 sphingolipidosis 31.9 SMPD1 PSAP NPC2 NPC1 LIPA ASAH2
9 cerebral lipidosis 31.8 SMPD1 NPC1
10 lipid storage disease 31.8 SMPD1 PSAP NPC2 NPC1 LIPA
11 gm1-gangliosidosis, type i 31.7 SMPD1 PSAP NPC2 NPC1
12 lysosomal and lipase deficiency 31.7 SMPD1 NPC2 NPC1 LIPA
13 gm2 gangliosidosis 31.7 SMPD1 PSAP NPC2 NPC1
14 gm1 gangliosidosis 31.7 PSAP NPC2 NPC1
15 krabbe disease 31.7 SMPD1 PSAP NPC2 NPC1
16 tay-sachs disease 31.7 SMPD1 PSAP NPC2 NPC1
17 farber lipogranulomatosis 31.7 SMPD1 PSAP NPC1 ASAH2
18 metachromatic leukodystrophy 31.7 SMPD1 PSAP NPC2 NPC1
19 mucopolysaccharidosis-plus syndrome 31.7 SMPD1 NPC2 NPC1 LIPA
20 ceroid lipofuscinosis, neuronal, 3 31.7 SMPD1 NPC2 NPC1
21 niemann-pick disease, type b 31.7 SMPD1 NPC2 NPC1 LIPA APBB1
22 c syndrome 31.6 SMPD1 NPC2 NPC1 LIPA ABCA1
23 mucopolysaccharidosis iii 31.6 NPC2 NPC1 LIPA
24 inherited metabolic disorder 31.6 NPC2 NPC1 LIPA ABCA1
25 gaucher disease, type i 31.6 SMPD1 PSAP NPC2 NPC1
26 gaucher's disease 31.6 SMPD1 PSAP NPC2 NPC1 LIPA ASAH2
27 niemann-pick disease, type c2 31.6 SMPD1 PSAP NPC2 NPC1 ACYP1
28 lysosomal storage disease 31.4 SMPD1 PSAP NPC2 NPC1 LIPA
29 pick disease of brain 31.4 SMPD1 NPC2 NPC1
30 niemann-pick disease 31.3 SMPD1 RMC1 PSAP NPC2 NPC1L1 NPC1
31 disease of mental health 31.1 SMPD1 NPC2 NPC1 IL10 HCRT APOD
32 acid sphingomyelinase deficiency 30.9 SMPD1 NPC1
33 lysosomal acid lipase deficiency 30.8 SMPD1 NPC2 NPC1 LIPA ABCA1
34 niemann-pick disease, type a 30.7 SMPD1 PSAP NPC2 NPC1 LIPA APBB1
35 dystonia 11.2
36 dementia 11.1
37 tangier disease 11.0
38 multiple sulfatase deficiency 10.9
39 wilson disease 10.9
40 mucolipidosis iv 10.8
41 ebola hemorrhagic fever 10.8
42 sveinsson chorioretinal atrophy 10.8
43 mucopolysaccharidosis, type iiia 10.8
44 aceruloplasminemia 10.8
45 nasopharyngeal carcinoma 10.8
46 vulto-van silfhout-de vries syndrome 10.8
47 aspiration pneumonia 10.8
48 marburg hemorrhagic fever 10.8
49 lassa fever 10.8
50 headache 10.8

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

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

58 31 (show top 50) (show all 94)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002015
2 hepatomegaly 58 31 very rare (1%) Very frequent (99-80%) HP:0002240
3 jaundice 58 31 hallmark (90%) Very frequent (99-80%) HP:0000952
4 progressive neurologic deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0002344
5 low cholesterol esterification rate 58 31 hallmark (90%) Very frequent (99-80%) HP:0003349
6 vertical supranuclear gaze palsy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000511
7 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
8 dysphonia 58 31 frequent (33%) Frequent (79-30%) HP:0001618
9 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
10 splenomegaly 58 31 very rare (1%) Frequent (79-30%) HP:0001744
11 aplasia/hypoplasia of the abdominal wall musculature 58 31 frequent (33%) Frequent (79-30%) HP:0010318
12 axial dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0002530
13 bone-marrow foam cells 58 31 frequent (33%) Frequent (79-30%) HP:0004333
14 foam cells 58 31 frequent (33%) Frequent (79-30%) HP:0003651
15 limb dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0002451
16 progressive gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0007240
17 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
18 abnormal pyramidal sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0007256
19 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
20 chorea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002072
21 developmental regression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002376
22 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
23 delayed speech and language development 58 31 occasional (7.5%) Occasional (29-5%) HP:0000750
24 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
25 specific learning disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001328
26 obsessive-compulsive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000722
27 schizophrenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100753
28 abnormal social behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0012433
29 psychosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000709
30 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
31 leukodystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002415
32 clumsiness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002312
33 aggressive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000718
34 dementia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000726
35 disinhibition 58 31 occasional (7.5%) Occasional (29-5%) HP:0000734
36 gastrostomy tube feeding in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0011471
37 hepatosplenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001433
38 apathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000741
39 auditory hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0008765
40 cataplexy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002524
41 cerebellar vermis atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0006855
42 focal-onset seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0007359
43 frequent falls 58 31 occasional (7.5%) Occasional (29-5%) HP:0002359
44 generalized-onset seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002197
45 intention tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002080
46 low frustration tolerance 58 31 occasional (7.5%) Occasional (29-5%) HP:0000744
47 lower limb spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002061
48 narcolepsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0030050
49 speech apraxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011098
50 visual hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0002367

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
spasticity
dysarthria
mental deterioration
dystonia
more
Abdomen Spleen:
splenomegaly

Neurologic Behavioral Psychiatric Manifestations:
psychosis
behavioral problems
poor school performance

Head And Neck Eyes:
vertical supranuclear gaze palsy

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

Abdomen Gastrointestinal:
dysphagia

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

Prenatal Manifestations:
fetal ascites

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

Clinical features from OMIM®:

257220 (Updated 05-Mar-2021)

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


seizures, muscle spasticity, cerebellar ataxia

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 ABCA1 APBB1 APOD HCRT HEG1 IL10
2 homeostasis/metabolism MP:0005376 10.1 ABCA1 APOD ASAH2 HCRT HEG1 IL10
3 liver/biliary system MP:0005370 9.81 ABCA1 IL10 LIPA NPC1 NPC1L1 NPC2
4 nervous system MP:0003631 9.73 ABCA1 APBB1 APOD HCRT IL10 LIPA
5 respiratory system MP:0005388 9.32 ABCA1 HCRT HEG1 IL10 LIPA NPC1

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
Miglustat Approved Phase 4 72599-27-0 51634
2 Anti-HIV Agents Phase 4
3 Cardiac Glycosides Phase 4
4 Anti-Infective Agents Phase 4
5 Antiviral Agents Phase 4
6 Hypoglycemic Agents Phase 4
7 Anti-Retroviral Agents Phase 4
8 Glycoside Hydrolase Inhibitors Phase 4
9 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
10
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
11
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
12
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
13
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
14
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
15 Antilymphocyte Serum Phase 2, Phase 3
16 Methylprednisolone Acetate Phase 2, Phase 3
17 Pharmaceutical Solutions Phase 2, Phase 3
18
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
19
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
20
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
21
Busulfan Approved, Investigational Phase 2 55-98-1 2478
22
alemtuzumab Approved, Investigational Phase 2 216503-57-0
23
Cysteine Approved, Nutraceutical Phase 1, Phase 2 52-90-4 5862
24
Glycine Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 56-40-6 750
25
Betadex Experimental Phase 1, Phase 2 7585-39-9 320761
26 Histone Deacetylase Inhibitors Phase 1, Phase 2
27 Protective Agents Phase 1, Phase 2
28 Respiratory System Agents Phase 1, Phase 2
29 Antioxidants Phase 1, Phase 2
30 N-monoacetylcystine Phase 1, Phase 2
31 Expectorants Phase 1, Phase 2
32 Antidotes Phase 1, Phase 2
33 Liver Extracts Phase 1, Phase 2
34
Bilirubin Phase 1, Phase 2 635-65-4 5280352
35 Immunosuppressive Agents Phase 2
36 Immunologic Factors Phase 2
37 Antirheumatic Agents Phase 2
38 Alkylating Agents Phase 2
39 Antineoplastic Agents, Immunological Phase 2
40
Leucine Investigational, Nutraceutical Phase 2 61-90-5 6106
41
Lithium carbonate Approved Early Phase 1 554-13-2
42 Antidepressive Agents Early Phase 1
43 Psychotropic Drugs Early Phase 1
44 Complement System Proteins

Interventional clinical trials:

(show all 44)
# Name Status NCT ID Phase Drugs
1 A Single Arm Uncontrolled 12 Months Clinical Study to Evaluate the Safety and Efficacy of Miglustat (Zavesca) for the Treatment of Niemann Pick Type C Disease (NPC) in Chinese Subjects Recruiting NCT03910621 Phase 4 Miglustat
2 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
3 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
4 A Phase 2b/3 Prospective, Randomized, Double-Blind, Sham-Controlled 3-Part Trial of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Subjects With Neurologic Manifestations of Niemann-Pick Type C1 (NPC1) Disease Active, not recruiting NCT02534844 Phase 2, Phase 3 VTS-270
5 Arimoclomol Prospective Doubleblind, Randomised, Placebo-controlled Study in Patients Diagnosed With NiemannPick Disease Type C Active, not recruiting NCT02612129 Phase 2, Phase 3 arimoclomol;Placebo
6 A Phase 2b/3 Open-label Trial of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Subjects With Neurologic Manifestations of Niemann-Pick Type C1 Disease Previously Treated Under Protocol VTS301 Active, not recruiting NCT03879655 Phase 2, Phase 3 VTS-270
7 A Phase 2/3, Multicenter, Randomized, Double-blinded, Placebo-controlled, Repeat-dose Study to Evaluate the Efficacy, Safety, Pharmacodynamics, and Pharmacokinetics of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02004691 Phase 2, Phase 3 placebo (saline);GZ402665
8 Open-label Evaluation of Adrabetadex in Patients With Neurologic Manifestations of Niemann-Pick Type C Disease (NPC) Active, not recruiting NCT03643562 Phase 3 Adrabetadex
9 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
10 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
11 Phase I/II Trial Of Hematopoietic Stem Cell Transplant (HSCT) For Children With A Genetic Disease Of Blood Cells Without An HLA-Matched Sibling Donor Completed NCT00730314 Phase 1, Phase 2
12 A Phase 1/2, Multi-Center, Open-Label, Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Exploratory Efficacy of Olipudase Alfa in Pediatric Patients Aged <18 Years With Acid Sphingomyelinase Deficiency Completed NCT02292654 Phase 1, Phase 2 Olipudase alfa
13 A Phase II Randomized Controlled Study of Miglustat in Adult and Juvenile Patients With Niemann-Pick Type C Disease Completed NCT00517153 Phase 2 miglustat
14 Combined Intrathecal and Intravenous VTS-270 Therapy for Liver and Neurological Disease Associated With Niemann-Pick Disease, Type C1 Recruiting NCT03887533 Phase 1, Phase 2 VTS-270
15 A Phase I/II Study to Evaluate the Safety and PK of iv Trappsol Cyclo (HP-β-CD) in Patients With Niemann-Pick Disease Type C NPC-1 and the Pharmacodynamic Effects of Treatment Upon Markers of Cholesterol Metabolism and Clinical Outcomes Active, not recruiting NCT02912793 Phase 1, Phase 2 Hydroxypropyl-beta-cyclodextrin
16 Phase 1/2a Study of 2-Hydroxypropyl-Beta-Cyclodextrin Therapy for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C Active, not recruiting NCT03471143 Phase 1, Phase 2 2-Hydroxypropyl-Beta-Cyclodextrin
17 Effects of N-Acetyl-L-Leucine on Niemann Pick Type C Disease: A Multinational, Multicenter, Open-label, Rater-blinded Phase II Study. Active, not recruiting NCT03759639 Phase 2 IB1001
18 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
19 A Long-Term Study to Assess the Ongoing Safety and Efficacy of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02004704 Phase 2 GZ402665
20 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
21 An Open-label, Multicenter Safety and Tolerability Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Pediatric Subjects Aged < 4 Years With Neurologic Manifestations of Niemann-Pick Type C (NPC) Disease Withdrawn NCT03687476 Phase 2 VTS-270
22 A Phase I Study to Evaluate the Single and Multiple-dose Pharmacokinetics of Intravenous Trappsol Cyclo (HP-Beta-CD) in Patients With Niemann-Pick Disease Type C (NPC-1) and the Effects of Dosing Upon Biomarkers of NPC Disease Completed NCT02939547 Phase 1 Hydroxypropyl-beta-cyclodextrin
23 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1 VTS-270
24 A Phase I/II Randomized, Controlled Study of OGT 918 in Adult and Juvenile Patients With Niemann Pick C Disease Completed NCT00316498 Phase 1 OGT918
25 An Open-label, Multicenter, Ascending Dose Study of the Tolerability and Safety of Recombinant Human Acid Sphingomyelinase (rhASM) in Patients With Acid Sphingomyelinase Deficiency (ASMD) Completed NCT01722526 Phase 1 Recombinant human acid sphingomyelinase
26 Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
27 An Open-Label Extension Study of the Long-Term Safety and Efficacy of Intravenous Trappsol® Cyclo (HP-β-CD) in Patients With Niemann-Pick Disease Type C (NPC-1) Active, not recruiting NCT03893071 Phase 1 Hydroxypropyl-β-cyclodextrin
28 A Single-Arm Study to Assess the Safety of Transplantation With Human Placental-Derived Stem-Cells Combined With Unrelated and Related Cord Blood in Subjects With Certain Malignant Hematologic Diseases and Non-Malignant Disorders Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
29 A Phase I, Single-Center, Single Dose, Dose Escalation Study of Recombinant Human Acid Sphingomyelinase (rhASM) in Adults With Acid Sphingomyelinase Deficiency (ASMD) Terminated NCT00410566 Phase 1 rhASM;rhASM;rhASM;rhASM;rhASM
30 Investigating Lysosomal Storage Diseases in Minority Groups Unknown status NCT02120235
31 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
32 Longitudinal Study of Cognition With Niemann-Pick Disease, Type C Completed NCT01899950
33 A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C in Order to Characterise the Individual Patient Disease Profile and Historic Signo-symptomatology Progression Pattern Completed NCT02435030
34 Positron Emission Tomography Imaging of Human Brain Phospholipid Metabolism in Relation to Age and Disease Completed NCT00001972 15 O Water
35 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Niemann Pick Disease Completed NCT03883750
36 Understanding Health Insurance Literacy and Challenges in Accessing Health Services in Niemann-Pick Disease Through the Eyes of Patients and Families Completed NCT04469894
37 Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C Recruiting NCT00344331
38 A Prospective and Retrospective Cohort Study to Refine and Expand the Knowledge on Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD) Recruiting NCT04106544
39 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
40 a Single-center, Prospective, Open, and Non-randomized Case-control Study of Lithium Carbonate Effect on Niemann Disease C1 Type Active, not recruiting NCT03201627 Early Phase 1 Lithium Carbonate
41 Biomarker for Niemann Pick Type C Disease (NPC1/NPC2) an International, Multicenter, Epidemiological Study Active, not recruiting NCT01306604
42 Early Access Program With Arimoclomol for the Treatment of Niemann-Pick Disease Type C in the US Available NCT04316637 Arimoclomol
43 Complement Activation in the Lysosomal Storage Disorders Not yet recruiting NCT04189601
44 Study Qbout the Screening of Niemann-Pick Disease, Type C in a Psychiatric Population Terminated NCT02841358

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:

40
Eye, Liver, Bone Marrow, Bone, Brain, Skin, Lung

Publications for Niemann-Pick Disease, Type C1

Articles related to Niemann-Pick Disease, Type C1:

(show top 50) (show all 837)
# Title Authors PMID Year
1
Heterozygous Niemann-Pick disease type C presenting with tremor. 61 25 57 6
15596783 2004
2
Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1. 25 57 6 61
11349231 2001
3
The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1. 54 57 6 25
9634529 1998
4
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. 54 6 57 61
10480349 1999
5
Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C. 57 6 61
9245994 1997
6
White and gray matter alterations in adults with Niemann-Pick disease type C: a cross-sectional study. 57 61 25
20484681 2010
7
Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2. 61 6 25
12447927 2002
8
Niemann-Pick disease type C in adults. 61 25 57
12555942 2002
9
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. 57 6
9211849 1997
10
Ultrastructural findings in skin from patients with Niemann-Pick disease, type C. 57 25 61
2360958 1990
11
A defect in cholesterol esterification in Niemann-Pick disease (type C) patients. 61 25 57
3865225 1985
12
A hereditary disorder with dementia, spastic dysarthria, vertical eye movement paresis, gait disturbance, splenomegaly, and abnormal copper metabolism. 6 57
4795418 1973
13
Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. 6 54 61
11567215 2001
14
Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop. 6 25
11333381 2001
15
Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts. 54 57 61
11182931 2000
16
Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype. 25 6
10521297 1999
17
Genetic and demographic aspects of Nova Scotia Niemann-Pick disease (type D). 25 57
736041 1978
18
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. 57 61
25764212 2016
19
Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits. 57 61
19307542 2009
20
Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. 57 61
18953351 2008
21
Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2. 6 54
17470133 2007
22
Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families. 61 54 25
16126423 2005
23
Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations. 61 54 25
15937921 2005
24
Niemann-Pick disease type C. 57 61
12974729 2003
25
Sleep disturbances and hypocretin deficiency in Niemann-Pick disease type C. 54 25 61
12841368 2003
26
Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease. 6 54
12554680 2003
27
Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease. 57 61
12408188 2002
28
Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations. 6 54
11479732 2001
29
Isolated splenomegaly as the presenting feature of Niemann-Pick disease type C. 57 61
11316691 2001
30
Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse. 61 57
10767333 2000
31
A C57BL/KsJ mouse model of Niemann-Pick disease (spm) belongs to the same complementation group as the major childhood type of Niemann-Pick disease type C. 61 57
9050921 1997
32
Psychosis as the initial manifestation of adult-onset Niemann-Pick disease type C. 61 57
7675237 1995
33
Feline Niemann-Pick disease type C. 61 57
8203477 1994
34
Complementation studies in Niemann-Pick disease type C indicate the existence of a second group. 61 57
8071958 1994
35
Linkage of Niemann-Pick disease type C to human chromosome 18. 61 57
8446622 1993
36
Feline sphingolipidosis resembling Niemann-Pick disease type C. 57 61
2127982 1990
37
Clinical spectrum of Niemann-Pick disease type C. 61 57
2761697 1989
38
Niemann-Pick disease--type C. Ocular histopathologic and electron microscopic studies. 61 57
4004622 1985
39
Clinical heterogeneity in a sibship with Niemann-Pick disease type C. 57 61
6839525 1983
40
Niemann-Pick disease type C. Pathological, histochemical, ultrastructural and biochemical studies. 57 61
7262098 1981
41
Niemann-Pick disease, Type C: evidence for the deficiency of an activating factor stimulating sphingomyelin and glucocerebroside degradation. 61 57
6256275 1980
42
Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: A large retrospective observational study. 61 25
32324281 2020
43
Association of Miglustat With Swallowing Outcomes in Niemann-Pick Disease, Type C1. 25 61
32897301 2020
44
Clinical, ocular motor, and imaging profile of Niemann-Pick type C heterozygosity. 61 25
32234823 2020
45
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease. 57
32033912 2020
46
Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review. 25 61
31266511 2019
47
Pulmonary involvement in Niemann-Pick C type 1. 61 25
30066180 2018
48
Miglustat in Niemann-Pick disease type C patients: a review. 25 61
30111334 2018
49
Consensus clinical management guidelines for Niemann-Pick disease type C. 61 25
29625568 2018
50
Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-β-Cyclodextrin. 61 25
29429782 2018

Variations for Niemann-Pick Disease, Type C1

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

6 (show top 50) (show all 717)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NPC1 NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln) SNV Pathogenic 2968 rs120074132 18:21119357-21119357 18:23539393-23539393
2 NPC1 NM_000271.5(NPC1):c.1133T>C (p.Val378Ala) SNV Pathogenic 2970 rs120074134 18:21136400-21136400 18:23556436-23556436
3 NPC1 NPC1, IVS16, G-A, -82 SNV Pathogenic 2975
4 NPC1 NM_000271.5(NPC1):c.3662del (p.Phe1221fs) Deletion Pathogenic 2977 rs786200878 18:21113411-21113411 18:23533447-23533447
5 NPC1 NM_000271.5(NPC1):c.337T>C (p.Cys113Arg) SNV Pathogenic 2978 rs120074136 18:21148913-21148913 18:23568949-23568949
6 NPC1 NM_000271.5(NPC1):c.3611_3614del (p.Leu1204fs) Deletion Pathogenic 2979 rs786200879 18:21113459-21113462 18:23533495-23533498
7 NPC1 NM_000271.5(NPC1):c.3160G>A (p.Ala1054Thr) SNV Pathogenic 21138 rs80358258 18:21116722-21116722 18:23536758-23536758
8 NPC1 NM_000271.5(NPC1):c.1030del (p.Ser344fs) Deletion Pathogenic 132888 rs483352883 18:21136503-21136503 18:23556539-23556539
9 NPC1 NM_000271.5(NPC1):c.1502A>T (p.Asp501Val) SNV Pathogenic 132889 rs483352885 18:21134773-21134773 18:23554809-23554809
10 NPC1 NM_000271.5(NPC1):c.1832A>G (p.Asp611Gly) SNV Pathogenic 132892 rs483352887 18:21125039-21125039 18:23545075-23545075
11 NPC1 NM_000271.5(NPC1):c.2054T>C (p.Ile685Thr) SNV Pathogenic 132893 rs483352888 18:21124384-21124384 18:23544420-23544420
12 NPC1 NM_000271.5(NPC1):c.2128C>T (p.Gln710Ter) SNV Pathogenic 132894 rs483352889 18:21124310-21124310 18:23544346-23544346
13 NPC1 NM_000271.5(NPC1):c.2177G>C (p.Arg726Thr) SNV Pathogenic 132895 rs483352890 18:21123487-21123487 18:23543523-23543523
14 NPC1 NM_000271.5(NPC1):c.2912-3C>G SNV Pathogenic 132900 rs483352892 18:21118638-21118638 18:23538674-23538674
15 NPC1 NM_000271.5(NPC1):c.3127A>G (p.Thr1043Ala) SNV Pathogenic 235096 rs876661319 18:21116755-21116755 18:23536791-23536791
16 NPC1 NM_000271.5(NPC1):c.881+1G>T SNV Pathogenic 437442 rs1555638409 18:21140194-21140194 18:23560230-23560230
17 NPC1 NM_000271.5(NPC1):c.2783A>C (p.Gln928Pro) SNV Pathogenic 2957 rs28940897 18:21119787-21119787 18:23539823-23539823
18 NPC1 NM_000271.5(NPC1):c.1171G>T (p.Glu391Ter) SNV Pathogenic 522757 rs1555637139 18:21136362-21136362 18:23556398-23556398
19 NPC1 NM_000271.5(NPC1):c.3562del (p.Glu1188fs) Deletion Pathogenic 552331 rs758231839 18:21114439-21114439 18:23534475-23534475
20 NPC1 NM_000271.5(NPC1):c.81G>A (p.Trp27Ter) SNV Pathogenic 838982 18:21153515-21153515 18:23573551-23573551
21 NPC1 NM_000271.5(NPC1):c.1250_1253del (p.Lys417fs) Deletion Pathogenic 841247 18:21136280-21136283 18:23556316-23556319
22 NPC1 NM_000271.5(NPC1):c.3379_3380del (p.Met1127fs) Deletion Pathogenic 858308 18:21115530-21115531 18:23535566-23535567
23 NPC1 NM_000271.5(NPC1):c.1034del (p.Phe345fs) Deletion Pathogenic 861914 18:21136499-21136499 18:23556535-23556535
24 NPC1 NM_000271.5(NPC1):c.2096del (p.Val699fs) Deletion Pathogenic 645173 rs1598954455 18:21124342-21124342 18:23544378-23544378
25 NPC1 NM_000271.5(NPC1):c.3477+2T>C SNV Pathogenic 657686 rs772898831 18:21115431-21115431 18:23535467-23535467
26 NPC1 NM_000271.5(NPC1):c.2660C>T (p.Pro887Leu) SNV Pathogenic 803477 rs1169032037 18:21119910-21119910 18:23539946-23539946
27 NPC1 NM_000271.5(NPC1):c.2594C>T (p.Ser865Leu) SNV Pathogenic 803478 rs1160114136 18:21120422-21120422 18:23540458-23540458
28 NPC1 NM_000271.5(NPC1):c.852del (p.Phe284fs) Deletion Pathogenic 371187 rs762124334 18:21140224-21140224 18:23560260-23560260
29 NPC1 NM_000271.5(NPC1):c.1844del (p.Arg615fs) Deletion Pathogenic 936729 18:21125027-21125027 18:23545063-23545063
30 NPC1 NM_000271.5(NPC1):c.3562G>T (p.Glu1188Ter) SNV Pathogenic 943983 18:21114439-21114439 18:23534475-23534475
31 NPC1 NM_000271.5(NPC1):c.3477+1G>A SNV Pathogenic 952006 18:21115432-21115432 18:23535468-23535468
32 NPC1 NM_000271.5(NPC1):c.1368_1369del (p.Ser456_Tyr457insTer) Deletion Pathogenic 956957 18:21134906-21134907 18:23554942-23554943
33 NPC1 NM_000271.5(NPC1):c.1261C>T (p.Gln421Ter) SNV Pathogenic 958381 18:21136272-21136272 18:23556308-23556308
34 NPC1 NM_000271.5(NPC1):c.3678del (p.Phe1226fs) Deletion Pathogenic 959341 18:21113395-21113395 18:23533431-23533431
35 NPC1 NM_000271.5(NPC1):c.721C>T (p.Gln241Ter) SNV Pathogenic 422340 rs1064795718 18:21140355-21140355 18:23560391-23560391
36 NPC1 NM_000271.5(NPC1):c.306T>G (p.Tyr102Ter) SNV Pathogenic 579540 rs751249367 18:21148944-21148944 18:23568980-23568980
37 NPC1 NM_000271.5(NPC1):c.2302dup (p.Val768fs) Duplication Pathogenic 132897 rs483352881 18:21121340-21121341 18:23541376-23541377
38 NPC1 NM_000271.5(NPC1):c.2795dup (p.Tyr932Ter) Duplication Pathogenic 132899 rs483352884 18:21119774-21119775 18:23539810-23539811
39 NPC1 NM_000271.5(NPC1):c.416dup (p.Asn140fs) Duplication Pathogenic 132901 rs483352880 18:21148833-21148834 18:23568869-23568870
40 NPC1 NM_000271.5(NPC1):c.3517dup (p.Arg1173fs) Duplication Pathogenic 471943 rs1555631982 18:21114483-21114484 18:23534519-23534520
41 NPC1 NM_000271.5(NPC1):c.1849dup (p.Ser617fs) Duplication Pathogenic 847972 18:21125021-21125022 18:23545057-23545058
42 NPC1 NM_000271.5(NPC1):c.1497dup (p.Gly500fs) Duplication Pathogenic 952147 18:21134777-21134778 18:23554813-23554814
43 NPC1 NM_000271.5(NPC1):c.1903_1906dup (p.Ser636fs) Duplication Pathogenic 956471 18:21124964-21124965 18:23545000-23545001
44 NPC1 NM_000271.5(NPC1):c.2664dup (p.Val889fs) Duplication Pathogenic 970280 18:21119905-21119906 18:23539941-23539942
45 NPC1 NM_000271.5(NPC1):c.3027del (p.Lys1010fs) Deletion Pathogenic 807453 rs1598942578 18:21118520-21118520 18:23538556-23538556
46 NPC1 NM_000271.5(NPC1):c.1097C>G (p.Ser366Ter) SNV Pathogenic 973557 18:21136436-21136436 18:23556472-23556472
47 NPC1 NM_000271.5(NPC1):c.2608T>A (p.Ser870Thr) SNV Pathogenic 973558 18:21119962-21119962 18:23539998-23539998
48 NPC1 NM_000271.5(NPC1):c.3020C>T (p.Pro1007Leu) SNV Pathogenic 973559 18:21118527-21118527 18:23538563-23538563
49 NPC1 NM_000271.5(NPC1):c.2777C>T (p.Ala926Val) SNV Pathogenic 181456 rs730880963 18:21119793-21119793 18:23539829-23539829
50 NPC1 NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg) SNV Pathogenic 505018 rs758902805 18:21113459-21113459 18:23533495-23533495

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

73 (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 rs126193914
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 rs123053860
41 NPC1 p.Met272Arg VAR_043185
42 NPC1 p.Arg372Trp VAR_043187 rs134643653
43 NPC1 p.Leu380Phe VAR_043188 rs143591549
44 NPC1 p.Ala388Pro VAR_043190 rs155563715
45 NPC1 p.Arg389Cys VAR_043191 rs105332182
46 NPC1 p.Pro401Thr VAR_043192 rs766301620
47 NPC1 p.Arg404Pro VAR_043193
48 NPC1 p.Arg404Gln VAR_043194 rs139751448
49 NPC1 p.Arg404Trp VAR_043195 rs129823851
50 NPC1 p.Pro433Leu VAR_043196 rs106479379

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:

36
# 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 space GO:0005615 9.86 SMPD1 PSAP NPC2 MIR98 MIR143 IL10
2 extracellular region GO:0005576 9.81 SMPD1 PSAP NPC2 NPC1 IL10 HEG1
3 perinuclear region of cytoplasm GO:0048471 9.72 NPC1 HCRT APOD APBB1 ABCA1
4 lysosomal lumen GO:0043202 9.26 SMPD1 PSAP NPC2 LIPA
5 lysosome GO:0005764 9.1 SMPD1 RMC1 PSAP NPC2 NPC1 LIPA

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.8 SMPD1 NPC1L1 NPC1 IL10 APOD ABCA1
2 steroid metabolic process GO:0008202 9.76 NPC2 NPC1L1 NPC1 ABCA1
3 lipid metabolic process GO:0006629 9.76 PSAP NPC2 NPC1L1 NPC1 LIPA ASAH2
4 cholesterol homeostasis GO:0042632 9.65 NPC2 NPC1 ABCA1
5 cholesterol metabolic process GO:0008203 9.65 SMPD1 NPC2 NPC1L1 NPC1 ABCA1
6 cholesterol efflux GO:0033344 9.61 NPC2 NPC1 ABCA1
7 low-density lipoprotein particle clearance GO:0034383 9.58 NPC2 NPC1 LIPA
8 ceramide metabolic process GO:0006672 9.54 SMPD1 ASAH2
9 intracellular cholesterol transport GO:0032367 9.54 NPC2 NPC1 ABCA1
10 lipoprotein metabolic process GO:0042157 9.52 NPC1L1 ABCA1
11 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.51 NPC1 ABCA1
12 lysosomal transport GO:0007041 9.49 PSAP NPC1
13 cholesterol transport GO:0030301 9.26 NPC2 NPC1L1 NPC1 ABCA1
14 lipid transport GO:0006869 9.1 PSAP NPC2 NPC1L1 NPC1 APOD ABCA1

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

# Name GO ID Score Top Affiliating Genes
1 cholesterol binding GO:0015485 9.26 NPC2 NPC1 APOD ABCA1
2 intermembrane cholesterol transfer activity GO:0120020 9.16 NPC2 ABCA1
3 lipid transporter activity GO:0005319 8.92 NPC1L1 NPC1 APOD ABCA1

Sources for Niemann-Pick Disease, Type C1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....