MCID: NMN015
MIFTS: 68

Niemann-Pick Disease, Type C1

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Immune diseases, Neuronal diseases, Eye 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 C 57 53 29 6 44 73
Niemann-Pick Disease Type C1 38 12 53 29 6 40
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
Niemann-Pick Disease C1 75

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 c, is related to niemann-pick disease type c, juvenile neurologic onset and niemann-pick disease type c, severe perinatal form, and has symptoms including cerebellar ataxia, muscle spasticity and seizures. 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 Hypolipidemic Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and bone, and related phenotypes are intellectual disability and seizures

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.

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.

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

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 all 44)
# Related Disease Score Top Affiliating Genes
1 niemann-pick disease type c, juvenile neurologic onset 34.8 NPC1 NPC2
2 niemann-pick disease type c, severe perinatal form 34.8 NPC1 NPC2
3 niemann-pick disease type c, late infantile neurologic onset 34.7 NPC1 NPC2
4 niemann-pick disease type c, severe early infantile neurologic onset 34.7 NPC1 NPC2
5 niemann-pick disease type c, adult neurologic onset 34.7 NPC1 NPC2
6 niemann-pick disease 30.4 APOD NPC1 NPC1L1 NPC2 PSAP SMPD1
7 nasopharyngeal carcinoma 11.9
8 niemann-pick disease, type c2 10.9
9 acid sphingomyelinase deficiency 10.7 NPC1 SMPD1
10 nasopharyngitis 10.5
11 non-langerhans-cell histiocytosis 10.4 NPC1 NPC2 SMPD1
12 lymphatic system disease 10.4 NPC1 NPC2 SMPD1
13 neuronitis 10.4
14 crohn's disease 10.3
15 lymphoproliferative syndrome, x-linked, 2 10.1
16 leukemia, acute lymphoblastic 10.1
17 leukemia 10.1
18 lymphoblastic leukemia 10.1
19 lipid storage disease 10.0 NPC1 NPC2 PSAP SMPD1
20 mucolipidosis ii alpha/beta 10.0 PSAP SMPD1
21 familial idiopathic basal ganglia calcification 9.9 APP MAPT
22 kluver-bucy syndrome 9.8 APP MAPT
23 hydrocephalus, normal-pressure 9.7 HCRT MAPT
24 von economo's disease 9.7 HCRT SNCA
25 rem sleep behavior disorder 9.6 HCRT SNCA
26 binswanger's disease 9.6 APP MAPT
27 parkinson disease 3, autosomal dominant 9.6 MAPT SNCA
28 cerebral amyloid angiopathy, cst3-related 9.5 ABCA1 APP MAPT
29 postencephalitic parkinson disease 9.5 MAPT SNCA
30 sphingolipidosis 9.4 ASAH2 NPC1 NPC2 PSAP SMPD1
31 neuronal intranuclear inclusion disease 9.4 MAPT SNCA
32 alzheimer disease 2 9.2 APP MAPT
33 leukoencephalopathy, hereditary diffuse, with spheroids 9.1 APP MAPT SNCA
34 aphasia 9.0 APP MAPT SNCA
35 pick disease of brain 9.0 APP MAPT SNCA
36 supranuclear palsy, progressive, 1 9.0 APP MAPT SNCA
37 synucleinopathy 9.0 APP MAPT SNCA
38 dementia, lewy body 9.0 APP MAPT SNCA
39 central nervous system disease 9.0 APP MAPT SNCA
40 nervous system disease 9.0 APP MAPT SNCA
41 frontotemporal dementia 8.7 APP MAPT SNCA
42 disease of mental health 8.5 APP HCRT MAPT SNCA
43 dementia 8.5 APP MAPT NPC1 NPC2 SNCA
44 parkinson disease, late-onset 8.4 APP HCRT MAPT SNCA

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
AbdomenSpleen:
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 abnormal pyramidal signs 32 occasional (7.5%) HP:0007256
15 global developmental delay 32 hallmark (90%) HP:0001263
16 splenomegaly 32 frequent (33%) HP:0001744
17 hepatomegaly 32 hallmark (90%) HP:0002240
18 cognitive impairment 32 hallmark (90%) HP:0100543
19 ascites 32 occasional (7.5%) HP:0001541
20 aplasia/hypoplasia of the abdominal wall musculature 32 frequent (33%) HP:0010318
21 dystonia 32 hallmark (90%) HP:0001332
22 jaundice 32 hallmark (90%) HP:0000952
23 psychosis 32 HP:0000709
24 dementia 32 HP:0000726
25 prolonged neonatal jaundice 32 HP:0006579
26 neurofibrillary tangles 32 HP:0002185
27 generalized hypotonia 32 HP:0001290
28 neuronal loss in central nervous system 32 HP:0002529
29 vertical supranuclear gaze palsy 32 HP:0000511
30 loss of speech 32 HP:0002371
31 sea-blue histiocytosis 32 HP:0001982
32 fatal liver failure in infancy 32 HP:0006583
33 bone-marrow foam cells 32 HP:0004333
34 cataplexy 32 HP:0002524
35 fetal ascites 32 HP:0001791
36 low cholesterol esterification rates 32 HP:0003349
37 abnormal cholesterol homeostasis 32 HP:0003464
38 foam cells in visceral organs and cns 32 HP:0003640

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


cerebellar ataxia, muscle spasticity, seizures

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.1 NPC2 PSAP SMPD1 SNCA ABCA1 APOD
2 behavior/neurological MP:0005386 10.09 APOD APP HCRT MAPT NPC1 NPC2
3 growth/size/body region MP:0005378 10.07 NPC1L1 NPC2 PSAP SMPD1 SNCA ABCA1
4 cardiovascular system MP:0005385 10.06 ABCA1 APOD APP HCRT MAPT NPC1
5 nervous system MP:0003631 9.85 ABCA1 APOD APP HCRT MAPT NPC1
6 liver/biliary system MP:0005370 9.73 ABCA1 NPC1 NPC1L1 NPC2 PSAP SMPD1
7 respiratory system MP:0005388 9.43 ABCA1 HCRT NPC1 NPC2 PSAP SMPD1
8 taste/olfaction MP:0005394 8.8 NPC1 SNCA MAPT

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 66)
# 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 Hypolipidemic Agents Phase 4,Phase 3,Phase 1,Not Applicable
3 Anticholesteremic Agents Phase 4,Phase 3,Phase 1,Not Applicable
4 Liver Extracts Phase 4,Phase 2,Phase 3
5 Lipid Regulating Agents Phase 4,Phase 3,Phase 1,Not Applicable
6 Antimetabolites Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
7
Miglustat Approved Phase 3,Phase 2,Phase 1 72599-27-0 51634
8
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
9
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
10
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
11
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
12
1-Deoxynojirimycin Experimental Phase 3,Phase 2 19130-96-2 1374
13 Prednisolone acetate Phase 2, Phase 3
14 insulin Phase 3,Not Applicable
15 Alkylating Agents Phase 2, Phase 3
16 Methylprednisolone acetate Phase 2, Phase 3
17 Methylprednisolone Hemisuccinate Phase 2, Phase 3
18 Glycoside Hydrolase Inhibitors Phase 3,Phase 2,Phase 1
19 Hypoglycemic Agents Phase 3,Phase 2,Phase 1
20 Immunosuppressive Agents Phase 2, Phase 3,Phase 1
21 Prednisolone hemisuccinate Phase 2, Phase 3
22 Prednisolone phosphate Phase 2, Phase 3
23 Anti-Infective Agents Phase 3,Phase 1,Phase 2
24 Insulin, Globin Zinc Phase 3,Not Applicable
25 Anti-HIV Agents Phase 3,Phase 2,Phase 1
26 Anti-Retroviral Agents Phase 3,Phase 2,Phase 1
27 Antilymphocyte Serum Phase 2, Phase 3
28 Antirheumatic Agents Phase 2, Phase 3
29 Antiviral Agents Phase 3,Phase 1,Phase 2
30 Cardiac Glycosides Phase 3,Phase 2,Phase 1
31 Antineoplastic Agents, Alkylating Phase 2, Phase 3
32 Pharmaceutical Solutions Phase 2, Phase 3,Phase 1
33
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
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
Gemcitabine Approved Phase 1, Phase 2 95058-81-4 60750
37
Paclitaxel Approved, Vet_approved Phase 1, Phase 2 33069-62-4 36314
38
alemtuzumab Approved, Investigational Phase 2 216503-57-0
39
Betadex Experimental Phase 1, Phase 2 7585-39-9 320761
40 pancreatin Phase 1, Phase 2,Phase 2
41 Respiratory System Agents Phase 1, Phase 2
42 Histone Deacetylase Inhibitors Phase 1, Phase 2
43 N-monoacetylcystine Phase 1, Phase 2
44 Antibodies Phase 1, Phase 2
45 Immunoglobulins Phase 1, Phase 2
46 Antibodies, Monoclonal Phase 1, Phase 2
47 Expectorants Phase 1, Phase 2
48 Antidotes Phase 1, Phase 2
49 Antioxidants Phase 1, Phase 2
50 Protective Agents Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 52)
# 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 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
4 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
5 Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Recruiting NCT02004691 Phase 2, Phase 3 placebo (saline);GZ402665
6 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
7 Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type C Active, not recruiting NCT02612129 Phase 2, Phase 3 arimoclomol;Placebo
8 SurVival of Lysosomal Acid Lipase Deficiency (LAL-D) Infants Treated With SebelipAse aLfa Active, not recruiting NCT01371825 Phase 2, Phase 3 Sebelipase alfa (SBC-102)
9 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
10 Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 Terminated NCT01473875 Phase 2, Phase 3 SBC-102
11 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
12 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
13 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
14 Miglustat in Niemann-Pick Type C Disease Completed NCT00517153 Phase 2 miglustat
15 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
16 Study of Pharmacokinetics and Preliminary Efficacy in Patients With Niemann-Pick C1 Recruiting NCT02912793 Phase 1, Phase 2 Hydroxypropyl-beta-cyclodextrin
17 Study of Lithium Carbonate to Treat Niemann-Pick Type C1 Disease Recruiting NCT03201627 Phase 1, Phase 2 Lithium Carbonate
18 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
19 Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency Recruiting NCT02292654 Phase 1, Phase 2 Olipudase alfa
20 QUILT-3.010: A Study of Gemcitabine and Nab-paclitaxel With or Without NPC-1C to Treat Patients With Pancreatic Cancer Active, not recruiting NCT01834235 Phase 1, Phase 2 Gemcitabine;nab-paclitaxel;NPC-1C
21 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
22 Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency Active, not recruiting NCT02193867 Phase 2 sebelipase alfa
23 A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Enrolling by invitation NCT02004704 Phase 2 GZ402665
24 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
25 Pilot Study of Ezetimibe for Chronic Hepatitis C Virus (HCV) Infection Unknown status NCT02126137 Phase 1 Ezetimibe
26 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1 VTS-270
27 Tolerability and Safety Study of Recombinant Human Acid Sphingomyelinase in Acid Sphingomyelinase Deficiency Patients Completed NCT01722526 Phase 1 Recombinant human acid sphingomyelinase
28 Saccadic Eye Movements in Patients With Niemann-Pick Type C Disease Completed NCT00316498 Phase 1 OGT918
29 Study of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1) Recruiting NCT02939547 Phase 1 Hydroxypropyl-beta-cyclodextrin
30 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
31 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
32 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
33 Study of Changes in Total Cholesterol Levels as a Function of Consuming a Supplement Designed to Improve Cardiovascular Health Unknown status NCT01890889 Not Applicable
34 Fatty Acids Lipidome and Oxidative Stress in Liver Transplantation Unknown status NCT01389115
35 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
36 Impact of a Short-Term High Fat or Low Fat Diet on Intestinal Genes Expression Involved in the Cholesterol and Fatty Acid Metabolism Completed NCT01806441 Not Applicable
37 Plant Stanols and Gene Expression Profile Completed NCT01574417 Not Applicable
38 Effects of N-3 Polyunsaturated Fatty Acids On Chylomicron Secretion And Expression Of Genes That Regulate Intestinal Lipid Metabolism In Men With Type 2 Diabetes Completed NCT01449773 Not Applicable
39 Effects of Polyunsaturated Fatty Acids on Intestinal Lipid Metabolism in Insulin-resistant Men Completed NCT01934543 Not Applicable
40 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
41 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
42 A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C Completed NCT02435030
43 Longitudinal Study of Cognition With Niemann-Pick Disease, Type C Completed NCT01899950
44 PET Scan of Brain Metabolism in Relation to Age and Disease Completed NCT00001972 15 O Water
45 Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C Recruiting NCT00344331
46 Investigating Lysosomal Storage Diseases in Minority Groups Recruiting NCT02120235
47 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
48 Molecular and Cellular Mechanisms of Lysosomal Storage Diseases Recruiting NCT02000310
49 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
50 Effect of β-cryptoxanthin (β-Cx), Plant Sterols and Galactooligosaccharides on Systemic and Gastrointestinal Markers Active, not recruiting NCT03469518 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, Brain, Bone, Bone Marrow, Skin, Testes, Eye

Publications for Niemann-Pick Disease, Type C1

Articles related to Niemann-Pick Disease, Type C1:

(show top 50) (show all 312)
# Title Authors Year
1
Consensus clinical management guidelines for Niemann-Pick disease type C. ( 29625568 )
2018
2
Long-term therapy with miglustat and cognitive decline in the adult form of Niemann-Pick disease type C: a case report. ( 29536386 )
2018
3
Correction: Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1. ( 29390035 )
2018
4
Gait, Balance, and Coordination Impairments in Niemann Pick Disease, Type C1. ( 29246094 )
2018
5
LC3 Immunostaining in the Inferior Olivary Nuclei of Cats With Niemann-Pick Disease Type C1 Is Associated With Patterned Purkinje Cell Loss. ( 29346563 )
2018
6
Gastrointestinal Tract Pathology in a BALB/c Niemann-Pick Disease Type C1 Null Mouse Model. ( 29357083 )
2018
7
Crohn's Disease in Niemann-Pick Disease Type C1: Caught in the Cross-Fire of Host-Microbial Interactions. ( 29411209 )
2018
8
Systematic review of psychiatric signs in Niemann-Pick disease type C. ( 29457916 )
2018
9
Evaluation of Two Liver Treatment Strategies in a Mouse Model of Niemann-Pick-Disease Type C1. ( 29587349 )
2018
10
Niemann-Pick Disease, Type C1 Gene Expression in PBMCs is Associated with Interleukin 10 Serum Concentration: a Case-Control Study. ( 29479887 )
2018
11
Microglia activation in Niemann-Pick disease, type C1 is amendable to therapeutic intervention. ( 29617956 )
2018
12
Large pericardial effusion and tamponade in young male with Niemann-Pick disease type C. ( 29898264 )
2018
13
Mitochondrial G8292A and C8794T mutations in patients with Niemann-Pick disease type C. ( 29930807 )
2018
14
Probable Diagnosis of a Patient with Niemann-Pick Disease Type C: Managing Pitfalls of Exome Sequencing. ( 29453517 )
2018
15
Alteration of cortical excitability and its modulation by Miglustat in Niemann-Pick disease type C. ( 29074317 )
2018
16
Niemann-Pick Disease Type C Associated with Fuchs Heterochromic Iridocyclitis. ( 29387679 )
2017
17
Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. ( 29431164 )
2017
18
Severe demyelination in a patient with a late infantile form of Niemann-Pick disease type C. ( 28387450 )
2017
19
Niemann-Pick disease type C in the newborn period: a single-center experience. ( 28951965 )
2017
20
Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult. ( 28421028 )
2017
21
2-hydroxypropyl-I^-cyclodextrins and the Blood-Brain Barrier: Considerations for Niemann-Pick Disease Type C1. ( 29065825 )
2017
22
Association of NPC1 variant p.P237S with a pathogenic splice variant in two Niemann-Pick disease type C1 patients. ( 28328115 )
2017
23
Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member. ( 28808920 )
2017
24
Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1. ( 28414792 )
2017
25
Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): findings from the International NPC Registry. ( 28914127 )
2017
26
Increased Regenerative Capacity of the Olfactory Epithelium in Niemann-Pick Disease Type C1. ( 28383485 )
2017
27
Longitudinal Changes in White Matter Fractional Anisotropy in Adult-Onset Niemann-Pick Disease Type C Patients Treated with Miglustat. ( 28710748 )
2017
28
Corrigendum to &amp;quot;Niemann-Pick Disease Type C Presenting as a Developmental Coordination Disorder with Bullying by Peers in a School-Age Child&amp;quot;. ( 29085694 )
2017
29
Utility of rapid whole exome sequencing in the diagnosis of neonatal Niemann Pick disease type C presenting with fetal hydrops and liver failure. ( 28802248 )
2017
30
Abnormal dopamine transporter imaging in adult-onset Niemann-Pick disease type C. ( 28063684 )
2017
31
New variant associated with Niemann-Pick disease type C: Neurological manifestations and biochemical, molecular, and cellular characterisation. ( 28865947 )
2017
32
Generation of patient specific human neural stem cells from Niemann-Pick disease type C patient-derived fibroblasts. ( 29156730 )
2017
33
The new obesity-associated protein, neuronal growth regulator 1 (NEGR1), is implicated in Niemann-Pick disease Type C (NPC2)-mediated cholesterol trafficking. ( 27940359 )
2017
34
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
35
Analytical Characterization of Methyl-I^-Cyclodextrin for Pharmacological Activity to Reduce Lysosomal Cholesterol Accumulation in Niemann-Pick Disease Type C1 Cells. ( 28631941 )
2017
36
Patient with Niemann-Pick disease type C: over 20 years' follow-up. ( 28830896 )
2017
37
Cognition and anatomy of adult Niemann-Pick disease type C: Insights for the Alzheimer field. ( 28662611 )
2017
38
Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C. ( 28092091 )
2017
39
Dataset in support of the generation of Niemann-Pick disease Type C1 patient-specific iPS cell lines carrying the novel NPC1 mutation c.1180T&amp;gt;C or the prevalent c.3182T&amp;gt;C mutation - Analysis of pluripotency and neuronal differentiation. ( 28413817 )
2017
40
Niemann-Pick Disease Type C Initially Misdiagnosed as Gaucher Disease in a 6 Year Old Kazakh Girl. ( 28480683 )
2017
41
Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study. ( 28222799 )
2017
42
Aberrant activation of Cdc2/cyclin B1 is involved in initiation of cytoskeletal pathology in murine Niemann-Pick disease type C. ( 29058287 )
2017
43
Characterization of cholesterol homeostasis in sphingosine-1-phosphate lyase-deficient fibroblasts reveals a Niemann-Pick disease type C-like phenotype with enhanced lysosomal Ca(2+) storage. ( 28262793 )
2017
44
Phenanthridin-6-one derivatives as the first class of non-steroidal pharmacological chaperones for Niemann-Pick disease type C1 protein. ( 28465104 )
2017
45
Newborn presentation of Niemann-Pick disease type C - Difficulties and limitations of diagnostic methods. ( 29100954 )
2017
46
Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases. ( 29119141 )
2017
47
Differential response of the liver to bile acid treatment in a mouse model of Niemann-Pick disease type C. ( 29062912 )
2017
48
Development of a bile acid-based newborn screen for Niemann-Pick disease type C. ( 27147587 )
2016
49
Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann-Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report. ( 27599728 )
2016
50
Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea. ( 27366019 )
2016

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 rs1053321823Niemann-Pick
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

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

6
(show top 50) (show all 392)
# 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.3467A> G (p.Asn1156Ser) single nucleotide variant Pathogenic rs28942105 GRCh37 Chromosome 18, 21115443: 21115443
4 NPC1 NM_000271.4(NPC1): c.3467A> G (p.Asn1156Ser) single nucleotide variant Pathogenic rs28942105 GRCh38 Chromosome 18, 23535479: 23535479
5 NPC1 NPC1, 1553G-A single nucleotide variant Pathogenic
6 NPC1 NM_000271.4(NPC1): c.3182T> C (p.Ile1061Thr) single nucleotide variant Pathogenic rs80358259 GRCh37 Chromosome 18, 21116700: 21116700
7 NPC1 NM_000271.4(NPC1): c.3182T> C (p.Ile1061Thr) single nucleotide variant Pathogenic rs80358259 GRCh38 Chromosome 18, 23536736: 23536736
8 NPC1 NM_000271.4(NPC1): c.2873G> A (p.Arg958Gln) single nucleotide variant Pathogenic rs120074132 GRCh37 Chromosome 18, 21119357: 21119357
9 NPC1 NM_000271.4(NPC1): c.2873G> A (p.Arg958Gln) single nucleotide variant Pathogenic rs120074132 GRCh38 Chromosome 18, 23539393: 23539393
10 NPC1 NM_000271.4(NPC1): c.2974G> C (p.Gly992Arg) single nucleotide variant Pathogenic/Likely pathogenic rs80358254 GRCh37 Chromosome 18, 21118573: 21118573
11 NPC1 NM_000271.4(NPC1): c.2974G> C (p.Gly992Arg) single nucleotide variant Pathogenic/Likely pathogenic rs80358254 GRCh38 Chromosome 18, 23538609: 23538609
12 NPC1 NM_000271.4(NPC1): c.1133T> C (p.Val378Ala) single nucleotide variant Pathogenic rs120074134 GRCh37 Chromosome 18, 21136400: 21136400
13 NPC1 NM_000271.4(NPC1): c.1133T> C (p.Val378Ala) single nucleotide variant Pathogenic rs120074134 GRCh38 Chromosome 18, 23556436: 23556436
14 NPC1 NM_000271.4(NPC1): c.2848G> A (p.Val950Met) single nucleotide variant Pathogenic/Likely pathogenic rs120074135 GRCh37 Chromosome 18, 21119382: 21119382
15 NPC1 NM_000271.4(NPC1): c.2848G> A (p.Val950Met) single nucleotide variant Pathogenic/Likely pathogenic rs120074135 GRCh38 Chromosome 18, 23539418: 23539418
16 NPC1 NM_000271.4(NPC1): c.3104C> T (p.Ala1035Val) single nucleotide variant Pathogenic/Likely pathogenic rs28942107 GRCh37 Chromosome 18, 21116778: 21116778
17 NPC1 NM_000271.4(NPC1): c.3104C> T (p.Ala1035Val) single nucleotide variant Pathogenic/Likely pathogenic rs28942107 GRCh38 Chromosome 18, 23536814: 23536814
18 NPC1 NM_000271.4(NPC1): c.3591+1G> A single nucleotide variant Likely pathogenic rs786200877 GRCh38 Chromosome 18, 23534445: 23534445
19 NPC1 NM_000271.4(NPC1): c.3591+1G> A single nucleotide variant Likely pathogenic rs786200877 GRCh37 Chromosome 18, 21114409: 21114409
20 NPC1 NM_000271.4(NPC1): c.530G> A (p.Cys177Tyr) single nucleotide variant Likely pathogenic rs80358252 GRCh37 Chromosome 18, 21141425: 21141425
21 NPC1 NM_000271.4(NPC1): c.530G> A (p.Cys177Tyr) single nucleotide variant Likely pathogenic rs80358252 GRCh38 Chromosome 18, 23561461: 23561461
22 NPC1 NPC1, IVS16, G-A, -82 single nucleotide variant Pathogenic
23 NPC1 NM_000271.4(NPC1): c.2932C> T (p.Arg978Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28942108 GRCh37 Chromosome 18, 21118615: 21118615
24 NPC1 NM_000271.4(NPC1): c.2932C> T (p.Arg978Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28942108 GRCh38 Chromosome 18, 23538651: 23538651
25 NPC1 NM_000271.4(NPC1): c.3662delT (p.Phe1221Serfs) deletion Pathogenic rs786200878 GRCh38 Chromosome 18, 23533447: 23533447
26 NPC1 NM_000271.4(NPC1): c.3662delT (p.Phe1221Serfs) deletion Pathogenic rs786200878 GRCh37 Chromosome 18, 21113411: 21113411
27 NPC1 NM_000271.4(NPC1): c.337T> C (p.Cys113Arg) single nucleotide variant Pathogenic rs120074136 GRCh37 Chromosome 18, 21148913: 21148913
28 NPC1 NM_000271.4(NPC1): c.337T> C (p.Cys113Arg) single nucleotide variant Pathogenic rs120074136 GRCh38 Chromosome 18, 23568949: 23568949
29 NPC1 NM_000271.4(NPC1): c.3611_3614delTTAC (p.Leu1204Glnfs) deletion Pathogenic rs786200879 GRCh38 Chromosome 18, 23533495: 23533498
30 NPC1 NM_000271.4(NPC1): c.3611_3614delTTAC (p.Leu1204Glnfs) deletion Pathogenic rs786200879 GRCh37 Chromosome 18, 21113459: 21113462
31 NPC2 NM_006432.3(NPC2): c.58G> T (p.Glu20Ter) single nucleotide variant Pathogenic rs80358260 GRCh37 Chromosome 14, 74959920: 74959920
32 NPC2 NM_006432.3(NPC2): c.58G> T (p.Glu20Ter) single nucleotide variant Pathogenic rs80358260 GRCh38 Chromosome 14, 74493217: 74493217
33 NPC1 NM_000271.4(NPC1): c.2324A> C (p.Gln775Pro) single nucleotide variant Pathogenic rs80358253 GRCh37 Chromosome 18, 21121319: 21121319
34 NPC1 NM_000271.4(NPC1): c.2324A> C (p.Gln775Pro) single nucleotide variant Pathogenic rs80358253 GRCh38 Chromosome 18, 23541355: 23541355
35 NPC1 NM_000271.4(NPC1): c.2974G> A (p.Gly992Arg) single nucleotide variant Pathogenic/Likely pathogenic rs80358254 GRCh37 Chromosome 18, 21118573: 21118573
36 NPC1 NM_000271.4(NPC1): c.2974G> A (p.Gly992Arg) single nucleotide variant Pathogenic/Likely pathogenic rs80358254 GRCh38 Chromosome 18, 23538609: 23538609
37 NPC1 NM_000271.4(NPC1): c.3160G> A (p.Ala1054Thr) single nucleotide variant Pathogenic rs80358258 GRCh37 Chromosome 18, 21116722: 21116722
38 NPC1 NM_000271.4(NPC1): c.3160G> A (p.Ala1054Thr) single nucleotide variant Pathogenic rs80358258 GRCh38 Chromosome 18, 23536758: 23536758
39 NPC1 NM_000271.4(NPC1): c.2196dupT (p.Pro733Serfs) duplication Pathogenic rs398123284 GRCh37 Chromosome 18, 21123468: 21123468
40 NPC1 NM_000271.4(NPC1): c.2196dupT (p.Pro733Serfs) duplication Pathogenic rs398123284 GRCh38 Chromosome 18, 23543504: 23543504
41 NPC1 NM_000271.4(NPC1): c.2366G> A (p.Arg789His) single nucleotide variant Pathogenic rs483352891 GRCh38 Chromosome 18, 23541313: 23541313
42 NPC1 NM_000271.4(NPC1): c.1030delT (p.Ser344Leufs) deletion Pathogenic rs483352883 GRCh38 Chromosome 18, 23556539: 23556539
43 NPC1 NM_000271.4(NPC1): c.1030delT (p.Ser344Leufs) deletion Pathogenic rs483352883 GRCh37 Chromosome 18, 21136503: 21136503
44 NPC1 NM_000271.4(NPC1): c.1502A> T (p.Asp501Val) single nucleotide variant Pathogenic rs483352885 GRCh38 Chromosome 18, 23554809: 23554809
45 NPC1 NM_000271.4(NPC1): c.1502A> T (p.Asp501Val) single nucleotide variant Pathogenic rs483352885 GRCh37 Chromosome 18, 21134773: 21134773
46 NPC1 NM_000271.4(NPC1): c.1553G> A (p.Arg518Gln) single nucleotide variant Pathogenic/Likely pathogenic rs483352886 GRCh38 Chromosome 18, 23554758: 23554758
47 NPC1 NM_000271.4(NPC1): c.1553G> A (p.Arg518Gln) single nucleotide variant Pathogenic/Likely pathogenic rs483352886 GRCh37 Chromosome 18, 21134722: 21134722
48 NPC1 NM_000271.4(NPC1): c.1800delC (p.Ile601Phefs) deletion Pathogenic rs483352879 GRCh38 Chromosome 18, 23545107: 23545107
49 NPC1 NM_000271.4(NPC1): c.1800delC (p.Ile601Phefs) deletion Pathogenic rs483352879 GRCh37 Chromosome 18, 21125071: 21125071
50 NPC1 NM_000271.4(NPC1): c.1832A> G (p.Asp611Gly) single nucleotide variant Pathogenic rs483352887 GRCh38 Chromosome 18, 23545075: 23545075

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 space GO:0005615 9.86 APOD APP MIR143 MIR98 NPC2 PSAP
2 extracellular region GO:0005576 9.65 APOD APP ASAH2 HCRT MAPT NPC1
3 perinuclear region of cytoplasm GO:0048471 9.63 ABCA1 APOD APP HCRT NPC1 SNCA
4 growth cone GO:0030426 9.61 APP MAPT SNCA
5 lysosomal lumen GO:0043202 9.58 NPC2 PSAP SMPD1
6 rough endoplasmic reticulum GO:0005791 9.54 APP HCRT SNCA
7 main axon GO:0044304 9.32 APP MAPT
8 lysosome GO:0005764 9.1 NPC1 NPC2 PSAP RMC1 SMPD1 SNCA

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.8 ABCA1 APOD NPC1 NPC1L1 SMPD1 SNCA
2 cholesterol homeostasis GO:0042632 9.71 ABCA1 NPC1 NPC2
3 steroid metabolic process GO:0008202 9.71 ABCA1 NPC1 NPC1L1 NPC2
4 lipid metabolic process GO:0006629 9.7 ABCA1 APOD ASAH2 NPC1 NPC1L1 NPC2
5 regulation of autophagy GO:0010506 9.65 MAPT PSAP RMC1
6 lipid transport GO:0006869 9.65 ABCA1 APOD NPC1 NPC1L1 PSAP
7 positive regulation of neuron death GO:1901216 9.62 MAPT SNCA
8 negative regulation of smooth muscle cell proliferation GO:0048662 9.61 APOD MIR143
9 low-density lipoprotein particle clearance GO:0034383 9.61 NPC1 NPC2
10 synapse organization GO:0050808 9.61 APP MAPT SNCA
11 lipoprotein metabolic process GO:0042157 9.6 ABCA1 NPC1L1
12 regulation of long-term neuronal synaptic plasticity GO:0048169 9.59 APP SNCA
13 response to lead ion GO:0010288 9.58 APP MAPT
14 regulation of neurotransmitter secretion GO:0046928 9.58 HCRT SNCA
15 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.57 ABCA1 NPC1
16 microglial cell activation GO:0001774 9.56 MAPT SNCA
17 supramolecular fiber organization GO:0097435 9.55 MAPT SNCA
18 cholesterol efflux GO:0033344 9.54 ABCA1 NPC1 NPC2
19 amyloid fibril formation GO:1990000 9.52 APP MAPT
20 negative regulation of platelet-derived growth factor receptor signaling pathway GO:0010642 9.51 APOD SNCA
21 astrocyte activation GO:0048143 9.49 APP MAPT
22 intracellular cholesterol transport GO:0032367 9.46 ABCA1 NPC2
23 cholesterol transport GO:0030301 9.26 ABCA1 NPC1 NPC1L1 NPC2
24 cholesterol metabolic process GO:0008203 9.02 ABCA1 APP NPC1 NPC1L1 NPC2

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

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.56 APP MAPT NPC2 SNCA
2 lipid transporter activity GO:0005319 9.37 APOD NPC1
3 cholesterol transporter activity GO:0017127 9.32 ABCA1 NPC2
4 apolipoprotein binding GO:0034185 9.16 ABCA1 MAPT
5 phospholipid binding GO:0005543 9.13 ABCA1 PSAP SNCA
6 cholesterol binding GO:0015485 8.92 ABCA1 APOD NPC1 NPC2

Sources for Niemann-Pick Disease, Type C1

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17 ExPASy
19 FMA
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69 SNOMED-CT via HPO
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