MCID: NMN015
MIFTS: 51

Niemann-Pick Disease, Type C1

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

Aliases & Classifications for Niemann-Pick Disease, Type C1

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

Name: Niemann-Pick Disease, Type C1 54 13 38 69
Niemann-Pick Disease Type C1 38 50 24 29
Niemann-Pick Disease, Type D 54 29 69
Niemann-Pick Disease, Type C 50 29 69
Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia 50 71
Niemann-Pick Disease with Cholesterol Esterification Block 50 71
Niemann-Pick Disease Type D 24 71
Npc1 50 71
Niemann-Pick Disease Without Sphingomyelinase Deficiency 71
Niemann-Pick Disease, Chronic Neuronopathic Form 50
Niemann-Pick Disease Chronic Neuronopathic Form 71
Niemann-Pick Disease, Subacute Juvenile Form 50
Niemann-Pick Disease Subacute Juvenile Form 71
Niemann-Pick Disease, Nova Scotia Type 24
Niemann-Pick Disease Nova Scotian Type 71
Niemann-Pick Disease Type Ii 71
Niemann-Picks Disease Type C 52
Niemann-Pick Disease C1 71
Npc 71

Characteristics:

OMIM:

54
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 : 54
Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene (601015), referred to as type C2 (607625). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006). Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; 257200), the visceral form (type B; 607616), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see 607616), and phenotypic variation within each group has also been described. (257220)

MalaCards based summary : Niemann-Pick Disease, Type C1, also known as niemann-pick disease type c1, is related to niemann-pick disease type c, juvenile neurologic onset and niemann-pick disease type c, late infantile neurologic onset, and has symptoms including dysphagia, dystonia and dysarthria. An important gene associated with Niemann-Pick Disease, Type C1 is NPC1 (NPC Intracellular Cholesterol Transporter 1). The drugs Ezetimibe and Anticholesteremic Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and bone marrow.

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on niemann-pick disease.

UniProtKB/Swiss-Prot : 71 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.

Related Diseases for Niemann-Pick Disease, Type C1

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:

54

Neurologic- Central Nervous System:
hypotonia
dystonia
dysarthria
spasticity
developmental delay
more
Abdomen- Liver:
hepatomegaly
neonatal jaundice
fatal liver failure in infancy (occasional)

Neurologic- Behavioral Psychiatric Manifestations:
psychosis
behavioral problems
poor school performance

Head And Neck- Eyes:
vertical supranuclear gaze palsy

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- Gastroin testinal:
dysphagia

Abdomen- Spleen:
splenomegaly

Prenatal Manifestations:
fetal ascites

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


Clinical features from OMIM:

257220

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

32 (show all 26)
id Description HPO Frequency HPO Source Accession
1 dysphagia 32 HP:0002015
2 dystonia 32 HP:0001332
3 dysarthria 32 HP:0001260
4 ataxia 32 HP:0001251
5 spasticity 32 HP:0001257
6 hepatomegaly 32 HP:0002240
7 splenomegaly 32 HP:0001744
8 seizures 32 HP:0001250
9 global developmental delay 32 HP:0001263
10 loss of speech 32 HP:0002371
11 intellectual disability 32 HP:0001249
12 psychosis 32 HP:0000709
13 dementia 32 HP:0000726
14 neurofibrillary tangles 32 HP:0002185
15 muscular hypotonia 32 HP:0001252
16 fetal ascites 32 HP:0001791
17 cataplexy 32 HP:0002524
18 prolonged neonatal jaundice 32 HP:0006579
19 vertical supranuclear gaze palsy 32 HP:0000511
20 low cholesterol esterification rates 32 HP:0003349
21 abnormal cholesterol homeostasis 32 HP:0003464
22 foam cells in visceral organs and cns 32 HP:0003640
23 neuronal loss in central nervous system 32 HP:0002529
24 sea-blue histiocytosis 32 HP:0001982
25 bone-marrow foam cells 32 HP:0004333
26 fatal liver failure in infancy 32 HP:0006583

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


cerebellar ataxia, muscle spasticity, seizures

Drugs & Therapeutics for Niemann-Pick Disease, Type C1

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

(show all 35)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ezetimibe Approved Phase 4,Phase 3,Phase 1 163222-33-1 150311
2 Anticholesteremic Agents Phase 4,Phase 3,Phase 1
3 Antimetabolites Phase 4,Phase 3,Phase 1,Phase 2
4 Hypolipidemic Agents Phase 4,Phase 3,Phase 1
5 Lipid Regulating Agents Phase 4,Phase 3,Phase 1
6 Liver Extracts Phase 4
7 insulin Phase 3
8 Insulin, Globin Zinc Phase 3
9
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
10
Pancrelipase Approved Phase 1, Phase 2 53608-75-6
11
Gemcitabine Approved Phase 1, Phase 2 95058-81-4 60750
12
Paclitaxel Approved, Vet_approved Phase 1, Phase 2 33069-62-4 36314
13
Betadex Experimental Phase 1, Phase 2 7585-39-9 320761
14 Histone Deacetylase Inhibitors Phase 1, Phase 2
15 Antibodies Phase 1, Phase 2
16 Antibodies, Monoclonal Phase 1, Phase 2
17 Immunoglobulins Phase 1, Phase 2
18 pancreatin Phase 1, Phase 2
19 Antidepressive Agents Phase 1, Phase 2
20 Antimanic Agents Phase 1, Phase 2
21 Central Nervous System Depressants Phase 1, Phase 2
22 Lithium carbonate Phase 1, Phase 2 554-13-2
23 Psychotropic Drugs Phase 1, Phase 2
24 Tranquilizing Agents Phase 1, Phase 2
25 Albumin-Bound Paclitaxel Phase 1, Phase 2
26 Anti-Infective Agents Phase 1, Phase 2
27 Antimetabolites, Antineoplastic Phase 1, Phase 2
28 Antimitotic Agents Phase 1, Phase 2
29 Antineoplastic Agents, Phytogenic Phase 1, Phase 2
30 Antiviral Agents Phase 1, Phase 2
31 Immunosuppressive Agents Phase 1, Phase 2
32 Cola Nutraceutical Phase 1, Phase 2
33 Phytosterol Nutraceutical
34 Omega 3 Fatty Acid Nutraceutical
35 Soy Bean Nutraceutical

Interventional clinical trials:

(show all 18)

id Name Status NCT ID Phase Drugs
1 Study of Ezetimibe for Chronic Hepatitis C Virus (HCV) Infection in Liver Transplant Candidates (EZE-2) Recruiting NCT02768545 Phase 4 Ezetimibe
2 Effects of Selective Inhibition of Cholesterol Absorption With Ezetimibe on Intestinal Cholesterol Homeostasis in Dyslipidemic Men With Insulin-resistance - a Pilot Study Completed NCT01849068 Phase 3 Ezetimibe;Placebo
3 Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) to Treat Niemann-Pick Type C1 (NPC1) Disease Active, not recruiting NCT02534844 Phase 2, Phase 3 VTS-270;Sham Procedure Control
4 Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type C Active, not recruiting NCT02612129 Phase 2, Phase 3 arimoclomol;Placebo
5 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
6 QUILT-3.019: Phase 2 Study of NPC-1C Chimeric Monoclonal Antibody to Treat Pancreatic and Colorectal Cancer Completed NCT01040000 Phase 1, Phase 2 NPC-1C/NEO-102
7 Study of Pharmacokinetics and Preliminary Efficacy in Patients With Niemann-Pick C1 Recruiting NCT02912793 Phase 1, Phase 2 Hydroxypropyl-beta-cyclodextrin
8 Study of Lithium Carbonate to Treat Niemann-Pick Type C1 Disease Recruiting NCT03201627 Phase 1, Phase 2 Lithium Carbonate
9 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
10 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1 VTS-270
11 Study of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1) Recruiting NCT02939547 Phase 1 Hydroxypropyl-beta-cyclodextrin
12 Pilot Study of Ezetimibe for Chronic Hepatitis C Virus (HCV) Infection Recruiting NCT02126137 Phase 1 Ezetimibe
13 Study of Changes in Total Cholesterol Levels as a Function of Consuming a Supplement Designed to Improve Cardiovascular Health Unknown status NCT01890889
14 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
15 Plant Stanols and Gene Expression Profile Completed NCT01574417
16 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
17 A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C Completed NCT02435030
18 Biomarker for Niemann Pick Type C Disease Recruiting NCT01306604

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

Genetic Tests for Niemann-Pick Disease, Type C1

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

id Genetic test Affiliating Genes
1 Niemann-Pick Disease, Type C 29
2 Niemann-Pick Disease Type C1 29 24 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:

39
Liver, Bone, Bone Marrow, Lung, Adipocyte, Cerebellum, Olfactory Bulb

Publications for Niemann-Pick Disease, Type C1

Articles related to Niemann-Pick Disease, Type C1:

(show all 36)
id Title Authors Year
1
Dataset in support of the generation of Niemann-Pick disease Type C1 patient-specific iPS cell lines carrying the novel NPC1 mutation c.1180T>C or the prevalent c.3182T>C mutation - Analysis of pluripotency and neuronal differentiation. ( 28413817 )
2017
2
Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1. ( 28414792 )
2017
3
Increased Regenerative Capacity of the Olfactory Epithelium in Niemann-Pick Disease Type C1. ( 28383485 )
2017
4
Association of NPC1 variant p.P237S with a pathogenic splice variant in two Niemann-Pick disease type C1 patients. ( 28328115 )
2017
5
Analytical Characterization of Methyl-I^-Cyclodextrin for Pharmacological Activity to Reduce Lysosomal Cholesterol Accumulation in Niemann-Pick Disease Type C1 Cells. ( 28631941 )
2017
6
Phenanthridin-6-one derivatives as the first class of non-steroidal pharmacological chaperones for Niemann-Pick disease type C1 protein. ( 28465104 )
2017
7
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
8
Necroptosis in Niemann-Pick disease, type C1: a potential therapeutic target. ( 26986514 )
2016
9
Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease. ( 26953272 )
2016
10
Role of Diffusion Tensor Imaging in Prognostication and Treatment Monitoring in Niemann-Pick Disease Type C1. ( 28933409 )
2016
11
Niemann-Pick disease type C1(NPC1) is involved in resistance against imatinib in the imatinib-resistant Ph+ acute lymphoblastic leukemia cell line SUP-B15/RI. ( 26818574 )
2016
12
Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1. ( 27798114 )
2016
13
Cathepsin S contributes to microglia-mediated olfactory dysfunction through the regulation of Cx3cl1-Cx3cr1 axis in a Niemann-Pick disease type C1 model. ( 27687148 )
2016
14
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. ( 25764212 )
2015
15
Rescue of an in vitro neuron phenotype identified in Niemann-Pick disease, type C1 induced pluripotent stem cell-derived neurons by modulating the WNT pathway and calcium signaling. ( 25637190 )
2015
16
Misexpression of the Niemann-Pick disease type C1 (NPC1)-like protein in Arabidopsis causes sphingolipid accumulation and reproductive defects. ( 26007685 )
2015
17
Corpus Callosum Diffusion Tensor Imaging and Volume Measures Are Associated With Disease Severity in Pediatric Niemann-Pick Disease Type C1. ( 25194719 )
2014
18
The role of the niemann-pick disease, type c1 protein in adipocyte insulin action. ( 24752197 )
2014
19
Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1. ( 23653225 )
2014
20
Improved neuroprotection using miglustat, curcumin and ibuprofen as a triple combination therapy in Niemann-Pick disease type C1 mice. ( 24631719 )
2014
21
Auditory phenotype of niemann-pick disease, type c1. ( 24225652 )
2014
22
Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1. ( 24235134 )
2014
23
Excessive microglial activation aggravates olfactory dysfunction by impeding the survival of newborn neurons in the olfactory bulb of Niemann-Pick disease type C1 mice. ( 25132229 )
2014
24
Niemann-Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: An autopsy case. ( 23711246 )
2014
25
NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish. ( 23010472 )
2013
26
Altered transition metal homeostasis in Niemann-Pick disease, type C1. ( 24343124 )
2013
27
Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1. ( 23666527 )
2013
28
Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight. ( 23144710 )
2012
29
Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1. ( 22619379 )
2012
30
Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1. ( 23023945 )
2012
31
Morphological alterations of the cornea in the mouse model of niemann-pick disease type c1. ( 21317782 )
2011
32
Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1. ( 19632328 )
2009
33
Niemann-Pick disease type C1 presenting with psychosis in an adolescent male. ( 19267177 )
2009
34
Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. ( 18953351 )
2008
35
Chemical synthesis of the 3-sulfooxy-7-N-acetylglucosaminyl-24-amidated conjugates of 3beta,7beta-dihydroxy-5-cholen-24-oic acid, and related compounds: unusual, major metabolites of bile acid in a patient with Niemann-Pick disease type C1. ( 16197972 )
2006
36
Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage. ( 16086131 )
2005

Variations for Niemann-Pick Disease, Type C1

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

71 (show top 50) (show all 151)
id Symbol AA change Variation ID SNP ID
1 NPC1 p.Cys177Gly VAR_008815
2 NPC1 p.Pro237Ser VAR_008817 rs80358251
3 NPC1 p.Ser473Pro VAR_008820
4 NPC1 p.His510Pro VAR_008821
5 NPC1 p.Arg518Gln VAR_008822 rs483352886
6 NPC1 p.Val889Met VAR_008826 rs120074130
7 NPC1 p.Gln928Pro VAR_008827 rs28940897
8 NPC1 p.Arg934Gln VAR_008828 rs786204714
9 NPC1 p.Ser940Leu VAR_008829 rs143124972
10 NPC1 p.Asp948Asn VAR_008830
11 NPC1 p.Ser954Leu VAR_008831 rs543206298
12 NPC1 p.Cys956Tyr VAR_008832
13 NPC1 p.Gly992Trp VAR_008833 rs80358254
14 NPC1 p.Pro1007Ala VAR_008834 rs80358257
15 NPC1 p.Thr1036Met VAR_008835 rs28942104
16 NPC1 p.Ile1061Thr VAR_008836 rs80358259
17 NPC1 p.Tyr1088Cys VAR_008837 rs28942106
18 NPC1 p.Asn1156Ser VAR_008838 rs28942105
19 NPC1 p.Phe1167Leu VAR_008839
20 NPC1 p.Arg1186His VAR_008840 rs200444084
21 NPC1 p.Leu1213Phe VAR_008841 rs120074131
22 NPC1 p.Leu1213Val VAR_008842 rs766178353
23 NPC1 p.Cys177Tyr VAR_015561 rs80358252
24 NPC1 p.Val378Ala VAR_015562 rs120074134
25 NPC1 p.Val950Met VAR_015563 rs120074135
26 NPC1 p.Arg958Gln VAR_015564 rs120074132
27 NPC1 p.Arg978Cys VAR_015565 rs28942108
28 NPC1 p.Gly992Arg VAR_015566 rs80358254
29 NPC1 p.Ala1035Val VAR_015567 rs28942107
30 NPC1 p.Cys63Arg VAR_043172 rs747049347
31 NPC1 p.Cys74Tyr VAR_043173
32 NPC1 p.Gln92Arg VAR_043174
33 NPC1 p.Cys113Arg VAR_043175 rs120074136
34 NPC1 p.Thr137Met VAR_043176 rs372947142
35 NPC1 p.Pro166Ser VAR_043178 rs866966704
36 NPC1 p.Asn222Ser VAR_043179 rs55680026
37 NPC1 p.Val231Gly VAR_043180
38 NPC1 p.Asp242His VAR_043181
39 NPC1 p.Asp242Asn VAR_043182
40 NPC1 p.Cys247Tyr VAR_043183
41 NPC1 p.Gly248Val VAR_043184
42 NPC1 p.Met272Arg VAR_043185
43 NPC1 p.Arg372Trp VAR_043187
44 NPC1 p.Leu380Phe VAR_043188
45 NPC1 p.Ala388Pro VAR_043190
46 NPC1 p.Arg389Cys VAR_043191
47 NPC1 p.Pro401Thr VAR_043192
48 NPC1 p.Arg404Pro VAR_043193
49 NPC1 p.Arg404Gln VAR_043194 rs139751448
50 NPC1 p.Arg404Trp VAR_043195

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

6 (show top 50) (show all 85)
id 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.3467A> G (p.Asn1156Ser) single nucleotide variant Pathogenic rs28942105 GRCh37 Chromosome 18, 21115443: 21115443
3 NPC1 NM_000271.4(NPC1): c.2974G> T (p.Gly992Trp) single nucleotide variant Pathogenic rs80358254 GRCh37 Chromosome 18, 21118573: 21118573
4 NPC1 NPC1, 1553G-A single nucleotide variant Pathogenic
5 NPC1 NM_000271.4(NPC1): c.3019C> G (p.Pro1007Ala) single nucleotide variant Pathogenic rs80358257 GRCh37 Chromosome 18, 21118528: 21118528
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.2873G> A (p.Arg958Gln) single nucleotide variant Pathogenic rs120074132 GRCh37 Chromosome 18, 21119357: 21119357
8 NPC1 NM_000271.4(NPC1): c.2974G> C (p.Gly992Arg) single nucleotide variant Pathogenic/Likely pathogenic rs80358254 GRCh37 Chromosome 18, 21118573: 21118573
9 NPC1 NM_000271.4(NPC1): c.1133T> C (p.Val378Ala) single nucleotide variant Pathogenic rs120074134 GRCh37 Chromosome 18, 21136400: 21136400
10 NPC1 NM_000271.4(NPC1): c.2848G> A (p.Val950Met) single nucleotide variant Pathogenic/Likely pathogenic rs120074135 GRCh37 Chromosome 18, 21119382: 21119382
11 NPC1 NM_000271.4(NPC1): c.3104C> T (p.Ala1035Val) single nucleotide variant Pathogenic/Likely pathogenic rs28942107 GRCh37 Chromosome 18, 21116778: 21116778
12 NPC1 NM_000271.4(NPC1): c.3591+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs786200877 GRCh38 Chromosome 18, 23534445: 23534445
13 NPC1 NM_000271.4(NPC1): c.530G> A (p.Cys177Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs80358252 GRCh37 Chromosome 18, 21141425: 21141425
14 NPC1 NPC1, IVS16, G-A, -82 single nucleotide variant Pathogenic
15 NPC1 NM_000271.4(NPC1): c.2932C> T (p.Arg978Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28942108 GRCh37 Chromosome 18, 21118615: 21118615
16 NPC1 NM_000271.4(NPC1): c.3662delT (p.Phe1221Serfs) deletion Pathogenic rs786200878 GRCh38 Chromosome 18, 23533447: 23533447
17 NPC1 NM_000271.4(NPC1): c.337T> C (p.Cys113Arg) single nucleotide variant Pathogenic rs120074136 GRCh37 Chromosome 18, 21148913: 21148913
18 NPC1 NM_000271.4(NPC1): c.3611_3614delTTAC (p.Leu1204Glnfs) deletion Pathogenic rs786200879 GRCh38 Chromosome 18, 23533495: 23533498
19 NPC1 NM_000271.4(NPC1): c.2324A> C (p.Gln775Pro) single nucleotide variant Pathogenic rs80358253 GRCh37 Chromosome 18, 21121319: 21121319
20 NPC1 NM_000271.4(NPC1): c.2974G> A (p.Gly992Arg) single nucleotide variant Pathogenic/Likely pathogenic rs80358254 GRCh37 Chromosome 18, 21118573: 21118573
21 NPC1 NM_000271.4(NPC1): c.3160G> A (p.Ala1054Thr) single nucleotide variant Pathogenic rs80358258 GRCh37 Chromosome 18, 21116722: 21116722
22 NPC1 NM_000271.4(NPC1): c.2196dupT (p.Pro733Serfs) duplication Pathogenic rs398123284 GRCh37 Chromosome 18, 21123468: 21123468
23 NPC1 NM_000271.4(NPC1): c.1030delT (p.Ser344Leufs) deletion Pathogenic rs483352883 GRCh38 Chromosome 18, 23556539: 23556539
24 NPC1 NM_000271.4(NPC1): c.1502A> T (p.Asp501Val) single nucleotide variant Pathogenic rs483352885 GRCh38 Chromosome 18, 23554809: 23554809
25 NPC1 NM_000271.4(NPC1): c.1553G> A (p.Arg518Gln) single nucleotide variant Pathogenic/Likely pathogenic rs483352886 GRCh38 Chromosome 18, 23554758: 23554758
26 NPC1 NM_000271.4(NPC1): c.1800delC (p.Ile601Phefs) deletion Pathogenic rs483352879 GRCh38 Chromosome 18, 23545107: 23545107
27 NPC1 NM_000271.4(NPC1): c.1832A> G (p.Asp611Gly) single nucleotide variant Pathogenic rs483352887 GRCh38 Chromosome 18, 23545075: 23545075
28 NPC1 NM_000271.4(NPC1): c.2054T> C (p.Ile685Thr) single nucleotide variant Pathogenic rs483352888 GRCh38 Chromosome 18, 23544420: 23544420
29 NPC1 NM_000271.4(NPC1): c.2128C> T (p.Gln710Ter) single nucleotide variant Pathogenic rs483352889 GRCh38 Chromosome 18, 23544346: 23544346
30 NPC1 NM_000271.4(NPC1): c.2177G> C (p.Arg726Thr) single nucleotide variant Pathogenic rs483352890 GRCh38 Chromosome 18, 23543523: 23543523
31 NPC1 NM_000271.4(NPC1): c.2230_2231delGT (p.Val744Serfs) deletion Pathogenic/Likely pathogenic rs483352882 GRCh38 Chromosome 18, 23543469: 23543470
32 NPC1 NM_000271.4(NPC1): c.2302_2303insG (p.Val768Glyfs) duplication Pathogenic rs483352881 GRCh38 Chromosome 18, 23541377: 23541377
33 NPC1 NM_000271.4(NPC1): c.2366G> A (p.Arg789His) single nucleotide variant Pathogenic rs483352891 GRCh38 Chromosome 18, 23541313: 23541313
34 NPC1 NM_000271.4(NPC1): c.2795dupA (p.Tyr932Terfs) duplication Pathogenic rs483352884 GRCh38 Chromosome 18, 23539811: 23539811
35 NPC1 NM_000271.4(NPC1): c.2912-3C> G single nucleotide variant Pathogenic rs483352892 GRCh38 Chromosome 18, 23538674: 23538674
36 NPC1 NM_000271.4(NPC1): c.416_417insC (p.Asn140Lysfs) duplication Pathogenic rs483352880 GRCh38 Chromosome 18, 23568870: 23568870
37 NPC1 NM_000271.4(NPC1): c.2861C> T (p.Ser954Leu) single nucleotide variant Pathogenic/Likely pathogenic rs543206298 GRCh38 Chromosome 18, 23539405: 23539405
38 NPC1 NM_000271.4(NPC1): c.1628C> T (p.Pro543Leu) single nucleotide variant Likely pathogenic rs369368181 GRCh38 Chromosome 18, 23551653: 23551653
39 NPC1 NM_000271.4(NPC1): c.3614C> A (p.Thr1205Lys) single nucleotide variant Pathogenic/Likely pathogenic rs758902805 GRCh38 Chromosome 18, 23533495: 23533495
40 NPC1 NM_000271.4(NPC1): c.3557G> A (p.Arg1186His) single nucleotide variant Pathogenic/Likely pathogenic rs200444084 GRCh38 Chromosome 18, 23534480: 23534480
41 NPC1 NM_000271.4(NPC1): c.3175C> T (p.Arg1059Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204455 GRCh38 Chromosome 18, 23536743: 23536743
42 NPC1 NM_000271.4(NPC1): c.2893C> T (p.Gln965Ter) single nucleotide variant Likely pathogenic rs786204586 GRCh37 Chromosome 18, 21119337: 21119337
43 NPC1 NM_000271.4(NPC1): c.2819C> T (p.Ser940Leu) single nucleotide variant Likely pathogenic rs143124972 GRCh38 Chromosome 18, 23539447: 23539447
44 NPC1 NM_000271.4(NPC1): c.2801G> A (p.Arg934Gln) single nucleotide variant Likely pathogenic rs786204714 GRCh38 Chromosome 18, 23539465: 23539465
45 NPC1 NM_000271.4(NPC1): c.2764C> T (p.Gln922Ter) single nucleotide variant Likely pathogenic rs786204641 GRCh38 Chromosome 18, 23539842: 23539842
46 NPC1 NM_000271.4(NPC1): c.2761C> T (p.Gln921Ter) single nucleotide variant Likely pathogenic rs786204512 GRCh38 Chromosome 18, 23539845: 23539845
47 NPC1 NM_000271.4(NPC1): c.1947+2T> G single nucleotide variant Likely pathogenic rs764472245 GRCh38 Chromosome 18, 23544958: 23544958
48 NPC1 NM_000271.4(NPC1): c.1211G> A (p.Arg404Gln) single nucleotide variant Pathogenic/Likely pathogenic rs139751448 GRCh37 Chromosome 18, 21136322: 21136322
49 NPC1 NM_000271.4(NPC1): c.2621A> T (p.Asp874Val) single nucleotide variant Pathogenic/Likely pathogenic rs372030650 GRCh37 Chromosome 18, 21119949: 21119949
50 NPC1 NM_000271.4(NPC1): c.1142G> A (p.Trp381Ter) single nucleotide variant Pathogenic/Likely pathogenic rs794727897 GRCh37 Chromosome 18, 21136391: 21136391

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

GO Terms for Niemann-Pick Disease, Type C1

Sources for Niemann-Pick Disease, Type C1

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