NPC1
MCID: NMN015
MIFTS: 68

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 56 13 37 71
Niemann-Pick Disease, Type C 56 74 52 29 6 43 71
Niemann-Pick Disease Type C1 12 52 29 6 15 39
Niemann-Pick Disease, Type D 56 29 6 71
Npc1 56 12 52 73
Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia 56 52 73
Niemann-Pick Disease with Cholesterol Esterification Block 56 52 73
Niemann-Pick Disease Type C 24 58 36
Niemann-Pick Disease Without Sphingomyelinase Deficiency 56 73
Niemann-Pick Disease, Chronic Neuronopathic Form 56 52
Niemann-Pick Disease, Subacute Juvenile Form 56 52
Niemann-Pick Disease Type D 74 73
Npc 56 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 56
Juvenile Niemann-Pick Disease 24
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:

56
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 : 56 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 and niemann-pick disease, type c2, 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 Metabolism. The drugs Miglustat and 1-Deoxynojirimycin have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and bone, 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 : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 646 Definition Niemann-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 256)
# Related Disease Score Top Affiliating Genes
1 niemann-pick disease 33.7 SMPD1 PSAP NPC2 NPC1L1 NPC1 IL10
2 niemann-pick disease, type c2 33.5 SMPD1 NPC2 NPC1
3 acid sphingomyelinase deficiency 32.8 SMPD1 NPC1
4 mucolipidosis 32.7 SMPD1 PSAP NPC1 HEXA
5 sandhoff disease 32.7 SMPD1 PSAP NPC2 NPC1 HEXA
6 mucolipidosis iv 32.6 NPC2 NPC1 HEXA
7 sphingolipidosis 32.5 SMPD1 PSAP NPC2 NPC1 HEXA ASAH2
8 tangier disease 32.4 NPC1 APP ABCG5 ABCA1
9 niemann-pick disease type c, juvenile neurologic onset 32.4 NPC2 NPC1
10 niemann-pick disease type c, adult neurologic onset 32.4 NPC2 NPC1
11 niemann-pick disease type c, severe early infantile neurologic onset 32.4 NPC2 NPC1
12 niemann-pick disease type c, late infantile neurologic onset 32.4 NPC2 NPC1
13 niemann-pick disease type c, severe perinatal form 32.3 NPC2 NPC1
14 lipid storage disease 32.3 SMPD1 PSAP NPC2 NPC1 LIPA HEXA
15 gaucher disease, perinatal lethal 32.2 PSAP NPC1 LIPA
16 lysosomal and lipase deficiency 32.1 SMPD1 NPC2 NPC1 LIPA
17 niemann-pick disease, type b 32.1 SMPD1 NPC2 NPC1 LIPA
18 lysosomal acid lipase deficiency 32.1 NPC2 NPC1 LIPA ABCA1
19 gm1 gangliosidosis 32.1 PSAP NPC2 NPC1 HEXA
20 inherited metabolic disorder 32.0 SMPD1 NPC2 NPC1 ABCA1
21 farber lipogranulomatosis 32.0 SMPD1 PSAP NPC2 NPC1 ASAH2
22 gm2 gangliosidosis 31.9 SMPD1 PSAP NPC2 NPC1 HEXA
23 tay-sachs disease 31.9 SMPD1 PSAP NPC2 NPC1 HEXA
24 pick disease of brain 31.8 SMPD1 NPC1 APP
25 gaucher disease, type i 31.3 SMPD1 PSAP HEXA
26 lysosomal storage disease 31.3 SMPD1 PSAP NPC2 NPC1 LIPA HEXA
27 niemann-pick disease, type a 30.9 SMPD1 PSAP NPC2 NPC1 ASAH2
28 mucolipidosis ii alpha/beta 30.6 SMPD1 PSAP
29 ebola hemorrhagic fever 11.4
30 dementia 11.3
31 dystonia 11.3
32 multiple sulfatase deficiency 11.2
33 wilson disease 11.2
34 nasopharyngeal carcinoma 11.2
35 headache 11.2
36 aspiration pneumonia 11.0
37 pigmentation disease 11.0
38 mucopolysaccharidosis iii 11.0
39 neuronal ceroid lipofuscinosis 11.0
40 marburg hemorrhagic fever 11.0
41 lassa fever 11.0
42 dysphagia 10.8
43 gaucher's disease 10.7
44 ataxia and polyneuropathy, adult-onset 10.6
45 aceruloplasminemia 10.6
46 hypotonia 10.6
47 spasticity 10.6
48 tremor 10.6
49 crohn's disease 10.5
50 splenomegaly 10.5

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 all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
2 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
3 developmental regression 58 31 hallmark (90%) Very frequent (99-80%) HP:0002376
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 hepatomegaly 58 31 very rare (1%) Very frequent (99-80%) HP:0002240
6 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
7 dystonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001332
8 jaundice 58 31 hallmark (90%) Very frequent (99-80%) HP:0000952
9 sleep disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0002360
10 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
11 dysphonia 58 31 frequent (33%) Frequent (79-30%) HP:0001618
12 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
13 splenomegaly 58 31 very rare (1%) Frequent (79-30%) HP:0001744
14 aplasia/hypoplasia of the abdominal wall musculature 58 31 frequent (33%) Frequent (79-30%) HP:0010318
15 seizures 58 31 very rare (1%) Occasional (29-5%) HP:0001250
16 abnormal pyramidal sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0007256
17 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
18 chorea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002072
19 ascites 58 31 occasional (7.5%) Occasional (29-5%) HP:0001541
20 intellectual disability 31 HP:0001249
21 spasticity 31 HP:0001257
22 neurological speech impairment 58 Frequent (79-30%)
23 muscular hypotonia 31 HP:0001252
24 behavioral abnormality 58 Frequent (79-30%)
25 generalized hypotonia 31 HP:0001290
26 psychosis 31 HP:0000709
27 dementia 31 HP:0000726
28 prolonged neonatal jaundice 31 HP:0006579
29 neurofibrillary tangles 31 HP:0002185
30 neuronal loss in central nervous system 31 HP:0002529
31 loss of speech 31 HP:0002371
32 vertical supranuclear gaze palsy 31 HP:0000511
33 fetal ascites 31 HP:0001791
34 sea-blue histiocytosis 31 HP:0001982
35 fatal liver failure in infancy 31 HP:0006583
36 bone-marrow foam cells 31 HP:0004333
37 cataplexy 31 HP:0002524
38 abnormal circulating cholesterol concentration 31 HP:0003107
39 low cholesterol esterification rate 31 HP:0003349
40 foam cells in visceral organs and cns 31 HP:0003640

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
spasticity
dysarthria
dystonia
dementia
more
Abdomen Spleen:
splenomegaly

Neurologic Behavioral Psychiatric Manifestations:
psychosis
behavioral problems
poor school performance

Prenatal Manifestations:
fetal ascites

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

Abdomen Gastrointestinal:
dysphagia

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

Head And Neck Eyes:
vertical supranuclear gaze palsy

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

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


seizures, muscle spasticity, cerebellar ataxia

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.31 ABCA1 ABCG5 APP HCRT HEG1 HEXA
2 homeostasis/metabolism MP:0005376 10.31 ABCA1 ABCG5 APOD APP ASAH2 HCRT
3 behavior/neurological MP:0005386 10.29 ABCG5 APOD APP HCRT HEXA IL10
4 cardiovascular system MP:0005385 10.2 ABCA1 ABCG5 APOD APP HCRT HEG1
5 mortality/aging MP:0010768 10.13 ABCA1 ABCG5 APOD APP HEG1 HEXA
6 liver/biliary system MP:0005370 10.11 ABCA1 ABCG5 HEXA IL10 LIPA NPC1
7 nervous system MP:0003631 9.97 ABCA1 APOD APP HCRT HEXA IL10
8 muscle MP:0005369 9.86 ABCA1 ABCG5 APP HCRT HEG1 IL10
9 reproductive system MP:0005389 9.65 ABCA1 ABCG5 APP HEXA IL10 MTCL1
10 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 top 50) (show all 64)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miglustat Approved Phase 4 72599-27-0 51634
2
1-Deoxynojirimycin Investigational Phase 4 19130-96-2 1374
3 Anti-Infective Agents Phase 4
4 Antiviral Agents Phase 4
5 Hypoglycemic Agents Phase 4
6 Anti-Retroviral Agents Phase 4
7 Cardiac Glycosides Phase 4
8 Glycoside Hydrolase Inhibitors Phase 4
9 Anti-HIV Agents Phase 4
10
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
11
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
12
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
13 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
14
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
15
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
16 Methylprednisolone Acetate Phase 2, Phase 3
17 Antilymphocyte Serum Phase 2, Phase 3
18 Pharmaceutical Solutions Phase 2, Phase 3
19
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
20
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
21
Itraconazole Approved, Investigational Phase 1, Phase 2 84625-61-6 55283
22
Hydroxychloroquine Approved Phase 1, Phase 2 118-42-3 3652
23
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
24
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
25
Busulfan Approved, Investigational Phase 2 55-98-1 2478
26
alemtuzumab Approved, Investigational Phase 2 216503-57-0
27
Cysteine Approved, Nutraceutical Phase 1, Phase 2 52-90-4 5862
28
Glycine Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 56-40-6 750
29
Betadex Experimental Phase 1, Phase 2 7585-39-9 320761
30
Emodepside Investigational, Vet_approved Phase 1, Phase 2 155030-63-0
31 Histone Deacetylase Inhibitors Phase 1, Phase 2
32 N-monoacetylcystine Phase 1, Phase 2
33 Free Radical Scavengers Phase 1, Phase 2
34 Antioxidants Phase 1, Phase 2
35 Respiratory System Agents Phase 1, Phase 2
36 Protective Agents Phase 1, Phase 2
37 Antidotes Phase 1, Phase 2
38 Expectorants Phase 1, Phase 2
39 Liver Extracts Phase 1, Phase 2
40 Antiparasitic Agents Phase 1, Phase 2
41
Bilirubin Phase 1, Phase 2 635-65-4, 69853-43-6 5280352 21252250
42 Cytochrome P-450 CYP3A Inhibitors Phase 1, Phase 2
43 Cytochrome P-450 Enzyme Inhibitors Phase 1, Phase 2
44
Hydroxyitraconazole Phase 1, Phase 2
45 Hormone Antagonists Phase 1, Phase 2
46 Antimalarials Phase 1, Phase 2
47 Antifungal Agents Phase 1, Phase 2
48 Hormones Phase 1, Phase 2
49 Steroid Synthesis Inhibitors Phase 1, Phase 2
50 Antiprotozoal Agents Phase 1, Phase 2

Interventional clinical trials:

(show all 45)
# 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 Not yet 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;Sham Procedure Control
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 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
7 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 Not yet recruiting NCT03879655 Phase 2, Phase 3 VTS-270
8 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
9 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
10 A Phase II Randomized Controlled Study of Miglustat in Adult and Juvenile Patients With Niemann-Pick Type C Disease Completed NCT00517153 Phase 2 miglustat
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 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
13 Phase 1/2a Study of 2-Hydroxypropyl-Beta-Cyclodextrin Therapy for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C Recruiting NCT03471143 Phase 1, Phase 2 2-Hydroxypropyl-Beta-Cyclodextrin
14 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 Recruiting NCT02912793 Phase 1, Phase 2 Hydroxypropyl-beta-cyclodextrin
15 Effects of N-Acetyl-L-Leucine on Niemann Pick Type C Disease: A Multinational, Multicenter, Open-label, Rater-blinded Phase II Study. Recruiting NCT03759639 Phase 2 IB1001
16 A Phase I/II Study of Hydroxychloroquine and Itraconazole as Therapy for Men With Androgen Normalised Prostate Cancer Recruiting NCT03513211 Phase 1, Phase 2 SUBA-itraconazole;Hydroxychloroquine
17 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
18 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
19 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 Active, not recruiting NCT02292654 Phase 1, Phase 2 Olipudase alfa
20 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 Not yet recruiting NCT03687476 Phase 2 VTS-270
21 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
22 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 Unknown status NCT01586455 Phase 1 Human Placental Derived Stem Cell
23 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1 VTS-270
24 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
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 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
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) Recruiting NCT03893071 Phase 1 Hydroxypropyl-β-cyclodextrin
28 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
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 Recruiting NCT03883750
36 Biomarker for Niemann Pick Type C Disease (NPC1/NPC2) an International, Multicenter, Epidemiological Study Recruiting NCT01306604
37 Investigations Into Inborn Errors of Cholesterol Synthesis and Related Disorders Recruiting NCT00046202
38 Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C Recruiting NCT00344331
39 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
40 A Prospective and Retrospective Cohort Study to Refine and Expand the Knowledge on Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD) Recruiting NCT04106544
41 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
42 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
43 An Open-label Expanded Access Treatment Protocol for VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Patients With Neurologic Manifestations of Niemann-Pick Type C Disease (NPC) Available NCT03643562 VTS270
44 Complement Activation in the Lysosomal Storage Disorders Not yet recruiting NCT04189601
45 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
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
Liver, Brain, Bone, Bone Marrow, Heart, Skin, Eye

Publications for Niemann-Pick Disease, Type C1

Articles related to Niemann-Pick Disease, Type C1:

(show top 50) (show all 798)
# Title Authors PMID Year
1
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. 54 61 24 56 6
10480349 1999
2
Heterozygous Niemann-Pick disease type C presenting with tremor. 61 24 56 6
15596783 2004
3
Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1. 61 24 56 6
11349231 2001
4
The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1. 54 24 56 6
9634529 1998
5
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. 24 56 6
9211849 1997
6
Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. 54 61 24 6
11567215 2001
7
Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C. 61 56 6
9245994 1997
8
White and gray matter alterations in adults with Niemann-Pick disease type C: a cross-sectional study. 61 24 56
20484681 2010
9
Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. 61 24 56
18953351 2008
10
Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2. 61 24 6
12447927 2002
11
Niemann-Pick disease type C in adults. 61 24 56
12555942 2002
12
Ultrastructural findings in skin from patients with Niemann-Pick disease, type C. 61 24 56
2360958 1990
13
A defect in cholesterol esterification in Niemann-Pick disease (type C) patients. 61 24 56
3865225 1985
14
A hereditary disorder with dementia, spastic dysarthria, vertical eye movement paresis, gait disturbance, splenomegaly, and abnormal copper metabolism. 56 6
4795418 1973
15
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. 24 6
11333381 2001
16
Identification of HE1 as the second gene of Niemann-Pick C disease. 24 6
11125141 2000
17
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 61 56
11182931 2000
18
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. 24 6
10521297 1999
19
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. 61 56
25764212 2016
20
Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits. 61 56
19307542 2009
21
Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2. 54 6
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. 54 61 24
16126423 2005
23
Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations. 54 61 24
15937921 2005
24
Niemann-Pick type C disease: importance of N-glycosylation sites for function and cellular location of the NPC2 protein. 54 61 24
15542393 2004
25
Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. 54 61 24
12955717 2003
26
Niemann-Pick disease type C. 61 56
12974729 2003
27
Sleep disturbances and hypocretin deficiency in Niemann-Pick disease type C. 54 61 24
12841368 2003
28
Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease. 54 6
12554680 2003
29
Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease. 61 56
12408188 2002
30
Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations. 54 6
11479732 2001
31
Isolated splenomegaly as the presenting feature of Niemann-Pick disease type C. 61 56
11316691 2001
32
Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse. 61 56
10767333 2000
33
Niemann-Pick Disease Type C 61 6
20301473 2000
34
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 56
9050921 1997
35
Psychosis as the initial manifestation of adult-onset Niemann-Pick disease type C. 61 56
7675237 1995
36
Feline Niemann-Pick disease type C. 61 56
8203477 1994
37
Complementation studies in Niemann-Pick disease type C indicate the existence of a second group. 61 56
8071958 1994
38
Linkage of Niemann-Pick disease type C to human chromosome 18. 61 56
8446622 1993
39
Feline sphingolipidosis resembling Niemann-Pick disease type C. 61 56
2127982 1990
40
Clinical spectrum of Niemann-Pick disease type C. 61 56
2761697 1989
41
Niemann-Pick disease--type C. Ocular histopathologic and electron microscopic studies. 61 56
4004622 1985
42
Clinical heterogeneity in a sibship with Niemann-Pick disease type C. 61 56
6839525 1983
43
Niemann-Pick disease type C. Pathological, histochemical, ultrastructural and biochemical studies. 61 56
7262098 1981
44
Niemann-Pick disease, Type C: evidence for the deficiency of an activating factor stimulating sphingomyelin and glucocerebroside degradation. 61 56
6256275 1980
45
Miglustat in Niemann-Pick disease type C patients: a review. 61 24
30111334 2018
46
Consensus clinical management guidelines for Niemann-Pick disease type C. 61 24
29625568 2018
47
Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C. 61 24
22476655 2013
48
Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat. 61 24
23039766 2012
49
Early miglustat therapy in infantile Niemann-Pick disease type C. 61 24
22704015 2012
50
Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. 61 24
22572546 2012

Variations for Niemann-Pick Disease, Type C1

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

6 (show top 50) (show all 336) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NPC1 NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu)SNV Pathogenic 181457 rs543206298 18:21119369-21119369 18:23539405-23539405
2 NPC1 NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln)SNV Pathogenic 188794 rs139751448 18:21136322-21136322 18:23556358-23556358
3 NPC1 NM_000271.5(NPC1):c.3234_3237dup (p.Pro1080fs)duplication Pathogenic 242483 rs863224902 18:21116644-21116645 18:23536680-23536681
4 NPC1 NM_000271.5(NPC1):c.2213C>A (p.Ser738Ter)SNV Pathogenic 242482 rs777286835 18:21123451-21123451 18:23543487-23543487
5 NPC1 NM_000271.5(NPC1):c.3662del (p.Phe1221fs)deletion Pathogenic 2977 rs786200878 18:21113411-21113411 18:23533447-23533447
6 NPC1 NM_000271.5(NPC1):c.2783A>C (p.Gln928Pro)SNV Pathogenic 2957 rs28940897 18:21119787-21119787 18:23539823-23539823
7 NPC1 NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)SNV Pathogenic 2967 rs80358259 18:21116700-21116700 18:23536736-23536736
8 NPC1 NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln)SNV Pathogenic 2968 rs120074132 18:21119357-21119357 18:23539393-23539393
9 NPC1 NM_000271.5(NPC1):c.1133T>C (p.Val378Ala)SNV Pathogenic 2970 rs120074134 18:21136400-21136400 18:23556436-23556436
10 NPC1 NM_000271.5(NPC1):c.337T>C (p.Cys113Arg)SNV Pathogenic 2978 rs120074136 18:21148913-21148913 18:23568949-23568949
11 NPC1 NM_000271.5(NPC1):c.3611_3614del (p.Leu1204fs)deletion Pathogenic 2979 rs786200879 18:21113459-21113462 18:23533495-23533498
12 NPC2 NM_006432.4(NPC2):c.58G>T (p.Glu20Ter)SNV Pathogenic 8477 rs80358260 14:74959920-74959920 14:74493217-74493217
13 NPC1 NPC1, IVS16, G-A, -82SNV Pathogenic 2975
14 NPC1 NM_000271.5(NPC1):c.2324A>C (p.Gln775Pro)SNV Pathogenic 21134 rs80358253 18:21121319-21121319 18:23541355-23541355
15 NPC1 NM_000271.5(NPC1):c.3160G>A (p.Ala1054Thr)SNV Pathogenic 21138 rs80358258 18:21116722-21116722 18:23536758-23536758
16 NPC1 NM_000271.5(NPC1):c.2196dup (p.Pro733fs)duplication Pathogenic 92706 rs398123284 18:21123467-21123468 18:23543503-23543504
17 NPC1 NM_000271.5(NPC1):c.1030del (p.Ser344fs)deletion Pathogenic 132888 rs483352883 18:21136503-21136503 18:23556539-23556539
18 NPC1 NM_000271.5(NPC1):c.1502A>T (p.Asp501Val)SNV Pathogenic 132889 rs483352885 18:21134773-21134773 18:23554809-23554809
19 NPC1 NM_000271.5(NPC1):c.2302dup (p.Val768fs)duplication Pathogenic 132897 rs483352881 18:21121340-21121341 18:23541376-23541377
20 NPC1 NM_000271.5(NPC1):c.2366G>A (p.Arg789His)SNV Pathogenic 132898 rs483352891 18:21121277-21121277 18:23541313-23541313
21 NPC1 NM_000271.5(NPC1):c.2795dup (p.Tyr932Ter)duplication Pathogenic 132899 rs483352884 18:21119774-21119775 18:23539810-23539811
22 NPC1 NM_000271.5(NPC1):c.2912-3C>GSNV Pathogenic 132900 rs483352892 18:21118638-21118638 18:23538674-23538674
23 NPC1 NM_000271.5(NPC1):c.416dup (p.Asn140fs)duplication Pathogenic 132901 rs483352880 18:21148833-21148834 18:23568869-23568870
24 NPC1 NM_000271.5(NPC1):c.3127A>G (p.Thr1043Ala)SNV Pathogenic 235096 rs876661319 18:21116755-21116755 18:23536791-23536791
25 NPC1 NM_000271.5(NPC1):c.1832A>G (p.Asp611Gly)SNV Pathogenic 132892 rs483352887 18:21125039-21125039 18:23545075-23545075
26 NPC1 NM_000271.5(NPC1):c.2054T>C (p.Ile685Thr)SNV Pathogenic 132893 rs483352888 18:21124384-21124384 18:23544420-23544420
27 NPC1 NM_000271.5(NPC1):c.2128C>T (p.Gln710Ter)SNV Pathogenic 132894 rs483352889 18:21124310-21124310 18:23544346-23544346
28 NPC1 NM_000271.5(NPC1):c.2177G>C (p.Arg726Thr)SNV Pathogenic 132895 rs483352890 18:21123487-21123487 18:23543523-23543523
29 NPC1 NM_000271.5(NPC1):c.3246-2A>GSNV Pathogenic 281939 rs886042268 18:21115666-21115666 18:23535702-23535702
30 NPC1 NM_000271.5(NPC1):c.1819C>T (p.Arg607Ter)SNV Pathogenic 265495 rs377130051 18:21125052-21125052 18:23545088-23545088
31 NPC1 NM_000271.5(NPC1):c.2872C>T (p.Arg958Ter)SNV Pathogenic 287837 rs759826138 18:21119358-21119358 18:23539394-23539394
32 NPC1 NM_000271.5(NPC1):c.3229C>T (p.Arg1077Ter)SNV Pathogenic 289257 rs750095738 18:21116653-21116653 18:23536689-23536689
33 NPC1 NM_000271.5(NPC1):c.852del (p.Phe284fs)deletion Pathogenic 371187 rs762124334 18:21140224-21140224 18:23560260-23560260
34 NPC1 NM_000271.5(NPC1):c.350_351AG[1] (p.Gln119fs)short repeat Pathogenic 370143 rs759075595 18:21148897-21148898 18:23568933-23568934
35 NPC1 NM_000271.5(NPC1):c.1421C>T (p.Pro474Leu)SNV Pathogenic 374049 rs372445155 18:21134854-21134854 18:23554890-23554890
36 NPC1 NM_000271.5(NPC1):c.973_974dup (p.Asp325fs)duplication Pathogenic 420124 rs886044580 18:21136558-21136559 18:23556594-23556595
37 NPC1 NM_000271.5(NPC1):c.881+1G>TSNV Pathogenic 437442 rs1555638409 18:21140194-21140194 18:23560230-23560230
38 NPC1 NM_000271.5(NPC1):c.3517dup (p.Arg1173fs)duplication Pathogenic 471943 rs1555631982 18:21114483-21114484 18:23534519-23534520
39 NPC1 NM_000271.5(NPC1):c.423_424dup (p.Lys142fs)duplication Pathogenic 503633 rs773941375 18:21148825-21148826 18:23568861-23568862
40 NPC1 NM_000271.5(NPC1):c.1171G>T (p.Glu391Ter)SNV Pathogenic 522757 rs1555637139 18:21136362-21136362 18:23556398-23556398
41 NPC1 NM_000271.5(NPC1):c.3562del (p.Glu1188fs)deletion Pathogenic 552331 rs758231839 18:21114439-21114439 18:23534475-23534475
42 NPC1 NM_000271.5(NPC1):c.1628del (p.Pro543fs)deletion Pathogenic 556403 rs1555635957 18:21131617-21131617 18:23551653-23551653
43 NPC1 NM_000271.5(NPC1):c.306T>G (p.Tyr102Ter)SNV Pathogenic 579540 rs751249367 18:21148944-21148944 18:23568980-23568980
44 NPC1 NM_000271.5(NPC1):c.2096del (p.Val699fs)deletion Pathogenic 645173 18:21124342-21124342 18:23544378-23544378
45 NPC1 NM_000271.5(NPC1):c.2660C>T (p.Pro887Leu)SNV Pathogenic 803477 18:21119910-21119910 18:23539946-23539946
46 NPC1 NM_000271.5(NPC1):c.2594C>T (p.Ser865Leu)SNV Pathogenic 803478 18:21120422-21120422 18:23540458-23540458
47 NPC1 NM_000271.5(NPC1):c.3027del (p.Lys1010fs)deletion Pathogenic 807453 18:21118520-21118520 18:23538556-23538556
48 NPC1 NM_000271.5(NPC1):c.449_450AG[1] (p.Ser151fs)short repeat Pathogenic/Likely pathogenic 558159 rs749012588 18:21148797-21148799 18:23568834-23568835
49 NPC1 NM_000271.5(NPC1):c.1554-1009G>ASNV Pathogenic/Likely pathogenic 553804 rs1055204017 18:21132700-21132700 18:23552736-23552736
50 NPC1 NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn)SNV Pathogenic/Likely pathogenic 552987 rs1261939149 18:21119388-21119388 18:23539424-23539424

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.82 SMPD1 PSAP NPC2 NPC1L1 NPC1 LIPA
2
Show member pathways
12.27 NPC2 NPC1L1 NPC1 LIPA ABCG5 ABCA1
3
Show member pathways
12.07 SMPD1 PSAP HEXA ASAH2
4
Show member pathways
11.43 NPC2 NPC1 LIPA ABCG5 ABCA1
5 11.19 SMPD1 PSAP NPC2 NPC1 LIPA HEXA
6
Show member pathways
11.14 NPC1L1 ABCG5 ABCA1
7 10.68 APOD ABCA1
8
Show member pathways
10.48 NPC2 NPC1 LIPA

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 exosome GO:0070062 9.97 SMPD1 PSAP NPC2 NPC1 MIR143 HEXA
2 extracellular space GO:0005615 9.91 SMPD1 PSAP NPC2 MTCL1 MIR98 MIR143
3 extracellular region GO:0005576 9.85 SMPD1 PSAP NPC2 NPC1 IL10 HEG1
4 perinuclear region of cytoplasm GO:0048471 9.8 NPC1 HCRT APP APOD ABCA1
5 membrane raft GO:0045121 9.67 NPC1 ASAH2 APP ABCA1
6 lysosome GO:0005764 9.43 SMPD1 PSAP NPC2 NPC1 LIPA HEXA
7 lysosomal lumen GO:0043202 9.02 SMPD1 PSAP NPC2 LIPA HEXA

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 steroid metabolic process GO:0008202 9.83 NPC2 NPC1L1 NPC1 CYP39A1 ABCA1
2 lipid metabolic process GO:0006629 9.81 PSAP NPC2 NPC1L1 NPC1 LIPA CYP39A1
3 cholesterol homeostasis GO:0042632 9.8 NPC2 NPC1 CYP39A1 ABCG5 ABCA1
4 response to drug GO:0042493 9.8 SMPD1 NPC1L1 NPC1 IL10 APOD ABCG5
5 glycosphingolipid metabolic process GO:0006687 9.67 SMPD1 PSAP HEXA
6 cholesterol transport GO:0030301 9.67 NPC2 NPC1L1 NPC1 ABCA1
7 low-density lipoprotein particle clearance GO:0034383 9.65 NPC2 NPC1 LIPA
8 intracellular cholesterol transport GO:0032367 9.63 NPC2 NPC1 ABCA1
9 cholesterol efflux GO:0033344 9.62 NPC2 NPC1 ABCG5 ABCA1
10 lipoprotein metabolic process GO:0042157 9.57 NPC1L1 ABCA1
11 ceramide metabolic process GO:0006672 9.56 SMPD1 ASAH2
12 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.55 NPC1 ABCA1
13 lysosomal transport GO:0007041 9.54 PSAP NPC1
14 intestinal cholesterol absorption GO:0030299 9.52 NPC1L1 ABCG5
15 sterol transport GO:0015918 9.51 NPC2 ABCG5
16 cholesterol metabolic process GO:0008203 9.43 SMPD1 NPC2 NPC1L1 NPC1 APP ABCA1
17 lipid transport GO:0006869 9.17 PSAP NPC2 NPC1L1 NPC1 APOD ABCG5

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

# Name GO ID Score Top Affiliating Genes
1 lipid transporter activity GO:0005319 9.33 NPC1 APOD ABCA1
2 intermembrane cholesterol transfer activity GO:0120020 9.13 NPC2 ABCG5 ABCA1
3 cholesterol binding GO:0015485 8.92 NPC2 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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