NPC1
MCID: NMN015
MIFTS: 67

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 58 13 39 74
Niemann-Pick Disease, Type C 58 77 54 30 6 45 74
Niemann-Pick Disease Type C1 39 12 54 30 6 15 41
Niemann-Pick Disease, Type D 58 30 6 74
Npc1 58 12 54 76
Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia 58 54 76
Niemann-Pick Disease with Cholesterol Esterification Block 58 54 76
Niemann-Pick Disease Without Sphingomyelinase Deficiency 58 76
Niemann-Pick Disease, Chronic Neuronopathic Form 58 54
Niemann-Pick Disease, Subacute Juvenile Form 58 54
Niemann-Pick Disease Type D 77 76
Niemann-Pick Disease Type C 25 38
Npc 58 76
Niemann-Pick Disease Chronic Neuronopathic Form 76
Niemann-Pick Disease Subacute Juvenile Form 76
Niemann-Pick Disease Nova Scotian Type 76
Niemann-Pick Disease, Type C; Npc 58
Juvenile Niemann-Pick Disease 25
Niemann-Pick Disease Type Ii 76
Niemann-Picks Disease Type C 56
Niemann-Pick C1 Disease 77
Niemann-Pick Disease C1 76

Characteristics:

OMIM:

58
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:

33
niemann-pick disease, type c1:
Inheritance heterogeneous autosomal recessive inheritance
Onset and clinical course onset


Classifications:



Summaries for Niemann-Pick Disease, Type C1

OMIM : 58 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 c, is related to niemann-pick disease, type c2 and acid sphingomyelinase deficiency, 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 Ezetimibe and Miglustat have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and bone marrow, and related phenotypes are ataxia and gait disturbance

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 : 54 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 : 76 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 : 77 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 97)
# Related Disease Score Top Affiliating Genes
1 niemann-pick disease, type c2 32.7 NPC1 NPC1L1 NPC2 SMPD1
2 acid sphingomyelinase deficiency 32.3 NPC1 SMPD1
3 sphingolipidosis 32.2 NPC1 NPC2 PSAP SMPD1
4 niemann-pick disease, type a 31.9 NPC1 NPC2 SMPD1
5 niemann-pick disease type c, severe perinatal form 31.8 NPC1 NPC2
6 niemann-pick disease type c, late infantile neurologic onset 31.8 NPC1 NPC2
7 niemann-pick disease type c, severe early infantile neurologic onset 31.8 NPC1 NPC2
8 niemann-pick disease type c, adult neurologic onset 31.7 NPC1 NPC2
9 niemann-pick disease type c, juvenile neurologic onset 31.7 NPC1 NPC2
10 niemann-pick disease, type b 31.6 ABCA1 NPC1 NPC2 SMPD1
11 lipid storage disease 31.5 NPC1 NPC2 PSAP SMPD1
12 niemann-pick disease 31.1 APOD NPC1 NPC1L1 NPC2 PSAP SMPD1
13 dementia 11.3
14 tangier disease 11.2
15 sandhoff disease 11.2
16 mucolipidosis 11.2
17 dystonia 11.2
18 multiple sulfatase deficiency 11.1
19 aceruloplasminemia 11.1
20 nasopharyngeal carcinoma 11.1
21 ebola hemorrhagic fever 11.1
22 headache 11.1
23 inherited metabolic disorder 11.0
24 crohn's disease 10.4
25 gaucher's disease 10.4
26 schizophrenia 10.3
27 scapuloperoneal myopathy, x-linked dominant 10.3
28 infantile liver failure syndrome 1 10.3
29 epilepsy 10.3
30 developmental coordination disorder 10.3
31 splenomegaly 10.3
32 myoclonus 10.3
33 developmental dyspraxia 10.3
34 dysphagia 10.3
35 lymphoproliferative syndrome, x-linked, 2 10.3
36 ichthyosis prematurity syndrome 10.3
37 leukemia, acute lymphoblastic 10.3
38 acute lymphocytic leukemia 10.3
39 leukemia 10.3
40 lymphocytic leukemia 10.3
41 alzheimer disease 10.3
42 lung disease 10.2
43 hepatocellular carcinoma 10.2
44 multiple sclerosis 10.2
45 bile acid synthesis defect, congenital, 4 10.2
46 cystic fibrosis 10.2
47 hemochromatosis, neonatal 10.2
48 hemochromatosis, type 1 10.2
49 gaucher disease, atypical, due to saposin c deficiency 10.2
50 acute liver failure 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

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

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

Symptoms via clinical synopsis from OMIM:

58
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

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


seizures, muscle spasticity, cerebellar ataxia

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

47
# 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 9.23 ABCA1 B4GALNT1 HCRT NPC1 NPC2 OMP

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 80)
# 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
Miglustat Approved Phase 4,Phase 3,Phase 2,Phase 1 72599-27-0 51634
3
1-Deoxynojirimycin Investigational Phase 4,Phase 3,Phase 2 19130-96-2 1374
4 Anticholesteremic Agents Phase 4,Phase 3,Phase 1,Not Applicable
5 Antimetabolites Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
6 Liver Extracts Phase 4,Phase 2,Phase 3,Phase 1
7 Lipid Regulating Agents Phase 4,Phase 3,Phase 1,Not Applicable
8 Hypolipidemic Agents Phase 4,Phase 3,Phase 1,Not Applicable
9 Cardiac Glycosides Phase 4,Phase 3,Phase 2,Phase 1
10 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Phase 2
11 Antiviral Agents Phase 4,Phase 3,Phase 1,Phase 2
12 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1
13 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1
14 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Phase 1
15 Glycoside Hydrolase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
16
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
17
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
18
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
19
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
20
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
21
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
22
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
23 Insulin, Globin Zinc Phase 3,Not Applicable
24 insulin Phase 3,Not Applicable
25 Prednisolone acetate Phase 2, Phase 3
26 Antineoplastic Agents, Alkylating Phase 2, Phase 3
27 Methylprednisolone Acetate Phase 2, Phase 3
28 Alkylating Agents Phase 2, Phase 3
29 Immunologic Factors Phase 2, Phase 3,Phase 1
30 Immunosuppressive Agents Phase 2, Phase 3,Phase 1
31 Antilymphocyte Serum Phase 2, Phase 3
32 Antirheumatic Agents Phase 2, Phase 3
33 Pharmaceutical Solutions Phase 2, Phase 3,Phase 1
34
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
35
Pancrelipase Approved, Investigational Phase 1, Phase 2,Phase 2 53608-75-6
36
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
37
Lithium carbonate Approved Phase 1, Phase 2 554-13-2
38
Gemcitabine Approved Phase 1, Phase 2 95058-81-4 60750
39
Paclitaxel Approved, Vet_approved Phase 1, Phase 2 33069-62-4 36314
40
alemtuzumab Approved, Investigational Phase 2 216503-57-0
41
Glycine Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 56-40-6 750
42
Betadex Experimental Phase 1, Phase 2,Phase 2 7585-39-9 320761
43
Emodepside Investigational, Vet_approved Phase 1, Phase 2 155030-63-0
44 Histone Deacetylase Inhibitors Phase 1, Phase 2
45 Immunoglobulins Phase 1, Phase 2
46 pancreatin Phase 1, Phase 2,Phase 2
47 Antineoplastic Agents, Immunological Phase 1, Phase 2,Phase 2
48 Antibodies Phase 1, Phase 2
49 Antibodies, Monoclonal Phase 1, Phase 2
50 Cola Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 61)
# 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 Safety and Efficacy of Miglustat in Chinese NPC Patients Not yet recruiting NCT03910621 Phase 4 Miglustat
3 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
4 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
5 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
6 Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency Completed NCT01371825 Phase 2, Phase 3 Sebelipase alfa (SBC-102)
7 Effects of Miglustat Therapy on Infantile Type of Sandhoff and Taysachs Diseases (EMTISTD) Recruiting NCT03822013 Phase 3 Miglustat
8 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
9 Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type C Active, not recruiting NCT02612129 Phase 2, Phase 3 arimoclomol;Placebo
10 Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02004691 Phase 2, Phase 3 placebo (saline);GZ402665
11 Open-label Study of VTS-270 in Participants With Neurologic Manifestations of Niemann-Pick Type C1 Not yet recruiting NCT03879655 Phase 2, Phase 3 VTS-270
12 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
13 Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 Terminated NCT01473875 Phase 2, Phase 3 SBC-102
14 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
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 NPC-1C/NEO-102
16 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
17 Miglustat in Niemann-Pick Type C Disease Completed NCT00517153 Phase 2 miglustat
18 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
19 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
20 Safety and Efficacy of Intravenous Trappsol Cyclo (HPBCD) in Niemann-Pick Type C Patients Recruiting NCT02912793 Phase 1, Phase 2 Hydroxypropyl-beta-cyclodextrin
21 Study of Lithium Carbonate to Treat Niemann-Pick Type C1 Disease Recruiting NCT03201627 Phase 1, Phase 2 Lithium Carbonate
22 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
23 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
24 Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02292654 Phase 1, Phase 2 Olipudase alfa
25 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
26 Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency Active, not recruiting NCT02193867 Phase 2 sebelipase alfa
27 A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Enrolling by invitation NCT02004704 Phase 2 GZ402665
28 N-Acetyl-L-Leucine for Niemann-Pick Disease, Type C (NPC) Not yet recruiting NCT03759639 Phase 2 IB1001
29 Safety and Tolerability Study of VTS-270 in Pediatric Participants With Niemann-Pick Type C (NPC) Disease Not yet recruiting NCT03687476 Phase 2 VTS-270
30 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
31 Pilot Study of Ezetimibe for Chronic Hepatitis C Virus (HCV) Infection Unknown status NCT02126137 Phase 1 Ezetimibe
32 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1 VTS-270
33 Tolerability and Safety Study of Recombinant Human Acid Sphingomyelinase in Acid Sphingomyelinase Deficiency Patients Completed NCT01722526 Phase 1 Recombinant human acid sphingomyelinase
34 Saccadic Eye Movements in Patients With Niemann-Pick Type C Disease Completed NCT00316498 Phase 1 OGT918
35 Study of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1) Recruiting NCT02939547 Phase 1 Hydroxypropyl-beta-cyclodextrin
36 Open‐Label Study of Long‐Term Safety and Efficacy of Intravenous Trappsol Cyclo (HPβCD) in Niemann‐Pick Disease Type C Recruiting NCT03893071 Phase 1 Hydroxypropyl-β-cyclodextrin
37 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
38 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
39 Safety Study of rhASM Enzyme Replacement Therapy in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease) Terminated NCT00410566 Phase 1 rhASM;rhASM;rhASM;rhASM;rhASM
40 Study of Changes in Total Cholesterol Levels as a Function of Consuming a Supplement Designed to Improve Cardiovascular Health Unknown status NCT01890889 Not Applicable
41 Fatty Acids Lipidome and Oxidative Stress in Liver Transplantation Unknown status NCT01389115
42 Investigating Lysosomal Storage Diseases in Minority Groups Unknown status NCT02120235
43 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
44 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
45 Plant Stanols and Gene Expression Profile Completed NCT01574417 Not Applicable
46 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
47 Effects of Polyunsaturated Fatty Acids on Intestinal Lipid Metabolism in Insulin-resistant Men Completed NCT01934543 Not Applicable
48 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
49 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
50 A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C Completed NCT02435030

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 30
2 Niemann-Pick Disease Type C1 30 NPC1
3 Niemann-Pick Disease, Type D 30

Anatomical Context for Niemann-Pick Disease, Type C1

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

42
Brain, Bone, Bone Marrow, Eye, Skin, Testes, Spleen

Publications for Niemann-Pick Disease, Type C1

Articles related to Niemann-Pick Disease, Type C1:

(show top 50) (show all 358)
# Title Authors Year
1
Cyclodextrin-Based Macromolecular Systems as Cholesterol-Mopping Therapeutic Agents in Niemann-Pick Disease Type C. ( 30216584 )
2019
2
Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C? ( 30665446 )
2019
3
Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review. ( 30732631 )
2019
4
A case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis. ( 30737051 )
2019
5
Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene. ( 30820861 )
2019
6
In Vitro and In Vivo Evaluation of 6-O-α-Maltosyl-β-Cyclodextrin as a Potential Therapeutic Agent Against Niemann-Pick Disease Type C. ( 30845767 )
2019
7
Evaluation of age of death in Niemann-Pick disease, type C: Utility of disease support group websites to understand natural history. ( 30850267 )
2019
8
Differential Proteomics Reveals miR-155 as a Novel Indicator of Liver and Spleen Pathology in the Symptomatic Niemann-Pick Disease, Type C1 Mouse Model. ( 30870990 )
2019
9
Diagnostic performance evaluation of sulfate-conjugated cholesterol metabolites as urinary biomarkers of Niemann-Pick disease type C. ( 30876856 )
2019
10
Interferon downstream signaling is activated early in pre-symptomatic Niemann-Pick disease type C. ( 31067492 )
2019
11
Pediatric liver transplantation for neonatal-onset Niemann-Pick disease type C: Japanese multicenter experience. ( 31081242 )
2019
12
Functional analysis of Niemann-Pick disease type C family protein, NPC1a, in Drosophila melanogaster. ( 31092503 )
2019
13
Crohn's Disease in Niemann-Pick Disease Type C1: Caught in the Cross-Fire of Host-Microbial Interactions. ( 29411209 )
2018
14
Cognition and anatomy of adult Niemann-Pick disease type C: Insights for the Alzheimer field. ( 28662611 )
2018
15
Longitudinal Changes in White Matter Fractional Anisotropy in Adult-Onset Niemann-Pick Disease Type C Patients Treated with Miglustat. ( 28710748 )
2018
16
Alteration of cortical excitability and its modulation by Miglustat in Niemann-Pick disease type C. ( 29074317 )
2018
17
Newborn presentation of Niemann-Pick disease type C - Difficulties and limitations of diagnostic methods. ( 29100954 )
2018
18
Gait, Balance, and Coordination Impairments in Niemann Pick Disease, Type C1. ( 29246094 )
2018
19
LC3 Immunostaining in the Inferior Olivary Nuclei of Cats With Niemann-Pick Disease Type C1 Is Associated With Patterned Purkinje Cell Loss. ( 29346563 )
2018
20
Gastrointestinal Tract Pathology in a BALB/c Niemann-Pick Disease Type C1 Null Mouse Model. ( 29357083 )
2018
21
Correction: Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1. ( 29390035 )
2018
22
Probable Diagnosis of a Patient with Niemann-Pick Disease Type C: Managing Pitfalls of Exome Sequencing. ( 29453517 )
2018
23
Systematic review of psychiatric signs in Niemann-Pick disease type C. ( 29457916 )
2018
24
Niemann-Pick Disease, Type C1 Gene Expression in PBMCs is Associated with Interleukin 10 Serum Concentration: a Case-Control Study. ( 29479887 )
2018
25
Long-term therapy with miglustat and cognitive decline in the adult form of Niemann-Pick disease type C: a case report. ( 29536386 )
2018
26
Evaluation of Two Liver Treatment Strategies in a Mouse Model of Niemann-Pick-Disease Type C1. ( 29587349 )
2018
27
Microglia activation in Niemann-Pick disease, type C1 is amendable to therapeutic intervention. ( 29617956 )
2018
28
Consensus clinical management guidelines for Niemann-Pick disease type C. ( 29625568 )
2018
29
Large pericardial effusion and tamponade in young male with Niemann-Pick disease type C. ( 29898264 )
2018
30
Mitochondrial G8292A and C8794T mutations in patients with Niemann-Pick disease type C. ( 29930807 )
2018
31
Application of a simple methodology to analyze Hydroxypropyl-β-Cyclodextrin in urine using HPLC-LS in early Niemann-Pick disease type C patient. ( 29990712 )
2018
32
Elevation of plasma lysosphingomyelin-509 and urinary bile acid metabolite in Niemann-Pick disease type C-affected individuals. ( 30023294 )
2018
33
Miglustat in Niemann-Pick disease type C patients: a review. ( 30111334 )
2018
34
Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials. ( 30115089 )
2018
35
Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report. ( 30119649 )
2018
36
Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for in vivo screening of candidate therapeutic compounds. ( 30135069 )
2018
37
Mass spectrometry imaging of lipids: untargeted consensus spectra reveal spatial distributions in Niemann-Pick disease type C1. ( 30266834 )
2018
38
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect. ( 30285904 )
2018
39
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
40
Main Olfactory and Vomeronasal Epithelium Are Differently Affected in Niemann-Pick Disease Type C1. ( 30424529 )
2018
41
Erratum: Mitochondrial G8292A and C8794T mutations in patients with Niemann-Pick disease type C. ( 30546884 )
2018
42
Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure. ( 28802248 )
2017
43
Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease. ( 26953272 )
2017
44
Corrigendum to "Niemann-Pick Disease Type C Presenting as a Developmental Coordination Disorder with Bullying by Peers in a School-Age Child". ( 29085694 )
2017
45
Niemann-Pick Disease Type C Associated with Fuchs Heterochromic Iridocyclitis. ( 29387679 )
2017
46
Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1. ( 27798114 )
2017
47
Niemann-Pick disease, type C and Roscoe Brady. ( 27923544 )
2017
48
The new obesity-associated protein, neuronal growth regulator 1 (NEGR1), is implicated in Niemann-Pick disease Type C (NPC2)-mediated cholesterol trafficking. ( 27940359 )
2017
49
Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages. ( 27993458 )
2017
50
Abnormal dopamine transporter imaging in adult-onset Niemann-Pick disease type C. ( 28063684 )
2017

Variations for Niemann-Pick Disease, Type C1

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

76 (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
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

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

6 (show top 50) (show all 648)
# 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.2783A> C (p.Gln928Pro) single nucleotide variant Pathogenic rs28940897 GRCh38 Chromosome 18, 23539823: 23539823
3 NPC1 NM_000271.4(NPC1): c.3107C> T (p.Thr1036Met) single nucleotide variant Conflicting interpretations of pathogenicity rs28942104 GRCh37 Chromosome 18, 21116775: 21116775
4 NPC1 NM_000271.4(NPC1): c.3107C> T (p.Thr1036Met) single nucleotide variant Conflicting interpretations of pathogenicity rs28942104 GRCh38 Chromosome 18, 23536811: 23536811
5 NPC1 NM_000271.4(NPC1): c.3467A> G (p.Asn1156Ser) single nucleotide variant Pathogenic rs28942105 GRCh37 Chromosome 18, 21115443: 21115443
6 NPC1 NM_000271.4(NPC1): c.3467A> G (p.Asn1156Ser) single nucleotide variant Pathogenic rs28942105 GRCh38 Chromosome 18, 23535479: 23535479
7 NPC1 NM_000271.4(NPC1): c.2974G> T (p.Gly992Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs80358254 GRCh37 Chromosome 18, 21118573: 21118573
8 NPC1 NM_000271.4(NPC1): c.2974G> T (p.Gly992Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs80358254 GRCh38 Chromosome 18, 23538609: 23538609
9 NPC1 NM_000271.4(NPC1): c.3044_3097del54 deletion Likely pathogenic rs797044431 GRCh38 Chromosome 18, 23536878: 23536878
10 NPC1 NM_000271.4(NPC1): c.3044_3097del54 deletion Likely pathogenic rs797044431 GRCh37 Chromosome 18, 21116842: 21116842
11 NPC1 NM_000271.4(NPC1): c.3019C> G (p.Pro1007Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs80358257 GRCh37 Chromosome 18, 21118528: 21118528
12 NPC1 NM_000271.4(NPC1): c.3019C> G (p.Pro1007Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs80358257 GRCh38 Chromosome 18, 23538564: 23538564
13 NPC1 NM_000271.4(NPC1): c.3182T> C (p.Ile1061Thr) single nucleotide variant Pathogenic rs80358259 GRCh37 Chromosome 18, 21116700: 21116700
14 NPC1 NM_000271.4(NPC1): c.3182T> C (p.Ile1061Thr) single nucleotide variant Pathogenic rs80358259 GRCh38 Chromosome 18, 23536736: 23536736
15 NPC1 NM_000271.4(NPC1): c.2873G> A (p.Arg958Gln) single nucleotide variant Pathogenic rs120074132 GRCh37 Chromosome 18, 21119357: 21119357
16 NPC1 NM_000271.4(NPC1): c.2873G> A (p.Arg958Gln) single nucleotide variant Pathogenic rs120074132 GRCh38 Chromosome 18, 23539393: 23539393
17 NPC1 NM_000271.4(NPC1): c.2974G> C (p.Gly992Arg) single nucleotide variant Pathogenic/Likely pathogenic rs80358254 GRCh37 Chromosome 18, 21118573: 21118573
18 NPC1 NM_000271.4(NPC1): c.2974G> C (p.Gly992Arg) single nucleotide variant Pathogenic/Likely pathogenic rs80358254 GRCh38 Chromosome 18, 23538609: 23538609
19 NPC1 NM_000271.4(NPC1): c.1133T> C (p.Val378Ala) single nucleotide variant Pathogenic rs120074134 GRCh37 Chromosome 18, 21136400: 21136400
20 NPC1 NM_000271.4(NPC1): c.1133T> C (p.Val378Ala) single nucleotide variant Pathogenic rs120074134 GRCh38 Chromosome 18, 23556436: 23556436
21 NPC1 NM_000271.4(NPC1): c.2848G> A (p.Val950Met) single nucleotide variant Pathogenic/Likely pathogenic rs120074135 GRCh37 Chromosome 18, 21119382: 21119382
22 NPC1 NM_000271.4(NPC1): c.2848G> A (p.Val950Met) single nucleotide variant Pathogenic/Likely pathogenic rs120074135 GRCh38 Chromosome 18, 23539418: 23539418
23 NPC1 NM_000271.4(NPC1): c.3104C> T (p.Ala1035Val) single nucleotide variant Pathogenic/Likely pathogenic rs28942107 GRCh37 Chromosome 18, 21116778: 21116778
24 NPC1 NM_000271.4(NPC1): c.3104C> T (p.Ala1035Val) single nucleotide variant Pathogenic/Likely pathogenic rs28942107 GRCh38 Chromosome 18, 23536814: 23536814
25 NPC1 NM_000271.4(NPC1): c.3591+1G> A single nucleotide variant Likely pathogenic rs786200877 GRCh38 Chromosome 18, 23534445: 23534445
26 NPC1 NM_000271.4(NPC1): c.3591+1G> A single nucleotide variant Likely pathogenic rs786200877 GRCh37 Chromosome 18, 21114409: 21114409
27 NPC1 NM_000271.4(NPC1): c.530G> A (p.Cys177Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs80358252 GRCh37 Chromosome 18, 21141425: 21141425
28 NPC1 NM_000271.4(NPC1): c.530G> A (p.Cys177Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs80358252 GRCh38 Chromosome 18, 23561461: 23561461
29 NPC1 NPC1, IVS16, G-A, -82 single nucleotide variant Pathogenic
30 NPC1 NM_000271.4(NPC1): c.2932C> T (p.Arg978Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28942108 GRCh37 Chromosome 18, 21118615: 21118615
31 NPC1 NM_000271.4(NPC1): c.2932C> T (p.Arg978Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28942108 GRCh38 Chromosome 18, 23538651: 23538651
32 NPC1 NM_000271.4(NPC1): c.3662delT (p.Phe1221Serfs) deletion Pathogenic rs786200878 GRCh38 Chromosome 18, 23533447: 23533447
33 NPC1 NM_000271.4(NPC1): c.3662delT (p.Phe1221Serfs) deletion Pathogenic rs786200878 GRCh37 Chromosome 18, 21113411: 21113411
34 NPC1 NM_000271.4(NPC1): c.337T> C (p.Cys113Arg) single nucleotide variant Pathogenic rs120074136 GRCh37 Chromosome 18, 21148913: 21148913
35 NPC1 NM_000271.4(NPC1): c.337T> C (p.Cys113Arg) single nucleotide variant Pathogenic rs120074136 GRCh38 Chromosome 18, 23568949: 23568949
36 NPC1 NM_000271.4(NPC1): c.3611_3614delTTAC (p.Leu1204Glnfs) deletion Pathogenic rs786200879 GRCh38 Chromosome 18, 23533495: 23533498
37 NPC1 NM_000271.4(NPC1): c.3611_3614delTTAC (p.Leu1204Glnfs) deletion Pathogenic rs786200879 GRCh37 Chromosome 18, 21113459: 21113462
38 NPC2 NM_006432.3(NPC2): c.58G> T (p.Glu20Ter) single nucleotide variant Pathogenic rs80358260 GRCh37 Chromosome 14, 74959920: 74959920
39 NPC2 NM_006432.3(NPC2): c.58G> T (p.Glu20Ter) single nucleotide variant Pathogenic rs80358260 GRCh38 Chromosome 14, 74493217: 74493217
40 NPC1 NM_000271.4(NPC1): c.1926G= (p.Met642=) single nucleotide variant Benign rs1788799 GRCh37 Chromosome 18, 21124945: 21124945
41 NPC1 NM_000271.4(NPC1): c.1926G= (p.Met642=) single nucleotide variant Benign rs1788799 GRCh38 Chromosome 18, 23544981: 23544981
42 NPC1 NM_000271.4(NPC1): c.2324A> C (p.Gln775Pro) single nucleotide variant Pathogenic rs80358253 GRCh37 Chromosome 18, 21121319: 21121319
43 NPC1 NM_000271.4(NPC1): c.2324A> C (p.Gln775Pro) single nucleotide variant Pathogenic rs80358253 GRCh38 Chromosome 18, 23541355: 23541355
44 NPC1 NM_000271.4(NPC1): c.2572A> G (p.Ile858Val) single nucleotide variant Benign rs1805082 GRCh37 Chromosome 18, 21120444: 21120444
45 NPC1 NM_000271.4(NPC1): c.2572A> G (p.Ile858Val) single nucleotide variant Benign rs1805082 GRCh38 Chromosome 18, 23540480: 23540480
46 NPC1 NM_000271.4(NPC1): c.2793C> T (p.Asn931=) single nucleotide variant Benign rs1140458 GRCh37 Chromosome 18, 21119777: 21119777
47 NPC1 NM_000271.4(NPC1): c.2793C> T (p.Asn931=) single nucleotide variant Benign rs1140458 GRCh38 Chromosome 18, 23539813: 23539813
48 NPC1 NM_000271.4(NPC1): c.2974G> A (p.Gly992Arg) single nucleotide variant Pathogenic/Likely pathogenic rs80358254 GRCh37 Chromosome 18, 21118573: 21118573
49 NPC1 NM_000271.4(NPC1): c.2974G> A (p.Gly992Arg) single nucleotide variant Pathogenic/Likely pathogenic rs80358254 GRCh38 Chromosome 18, 23538609: 23538609
50 NPC1 NM_000271.4(NPC1): c.3160G> A (p.Ala1054Thr) single nucleotide variant Pathogenic rs80358258 GRCh37 Chromosome 18, 21116722: 21116722

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:

38
# 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 extracellular space GO:0005615 9.7 APOD APP MIR143 MIR98 NPC2 PSAP
4 lysosome GO:0005764 9.56 NPC1 NPC2 PSAP SMPD1
5 perinuclear region of cytoplasm GO:0048471 9.35 ABCA1 APOD APP HCRT NPC1
6 lysosomal lumen GO:0043202 8.8 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 cholesterol transporter activity GO:0017127 9.16 ABCA1 NPC2
2 lipid transporter activity GO:0005319 9.13 ABCA1 APOD NPC1
3 cholesterol binding GO:0015485 8.92 ABCA1 APOD NPC1 NPC2

Sources for Niemann-Pick Disease, Type C1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....