NPC2
MCID: NMN014
MIFTS: 51

Niemann-Pick Disease, Type C2 (NPC2)

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

Aliases & Classifications for Niemann-Pick Disease, Type C2

MalaCards integrated aliases for Niemann-Pick Disease, Type C2:

Name: Niemann-Pick Disease, Type C2 56 29 13 54 6 71
Niemann-Pick Disease Type C2 12 52 15 39
Npc2 56 12 52 73
Niemann-Pick C2 Disease 74
Niemann-Pick Disease C2 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype and age of onset
neurologic involvement may occur in the absence of visceral involvement
early death from respiratory failure may occur
genetic heterogeneity (see npc1, )


HPO:

31
niemann-pick disease, type c2:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course onset


Classifications:



Summaries for Niemann-Pick Disease, Type C2

NIH Rare Diseases : 52 Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease , intellectual decline, seizures , speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations ) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Niemann-Pick Disease, Type C2, also known as niemann-pick disease type c2, is related to niemann-pick disease type c, juvenile neurologic onset and niemann-pick disease type c, adult neurologic onset, and has symptoms including seizures, muscle spasticity and cerebellar ataxia. An important gene associated with Niemann-Pick Disease, Type C2 is NPC2 (NPC Intracellular Cholesterol Transporter 2), and among its related pathways/superpathways are Lysosome and Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF). The drugs Vorinostat and Hydroxychloroquine have been mentioned in the context of this disorder. Affiliated tissues include liver, lung and spleen, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A Niemann-Pick disease that has material basis in an autosomal recessive mutation of NPC2 on chromosome 14q24.3.

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 (607623), referred to as type C1 (257220); 5% are caused by mutations in the NPC2 gene (601015), referred to as type C2. The clinical manifestations of types C1 (257220) 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). (607625)

UniProtKB/Swiss-Prot : 73 Niemann-Pick disease C2: 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 C2 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.

Wikipedia : 74 Niemann-Pick type C (NPC) is a lysosomal storage disease associated with mutations in NPC1 and NPC2... more...

Related Diseases for Niemann-Pick Disease, Type C2

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 C2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 niemann-pick disease type c, juvenile neurologic onset 32.0 NPC2 NPC1
2 niemann-pick disease type c, adult neurologic onset 32.0 NPC2 NPC1
3 niemann-pick disease type c, severe early infantile neurologic onset 32.0 NPC2 NPC1
4 niemann-pick disease type c, late infantile neurologic onset 32.0 NPC2 NPC1
5 niemann-pick disease type c, severe perinatal form 32.0 NPC2 NPC1
6 mucolipidosis iv 31.8 NPC2 NPC1
7 sveinsson chorioretinal atrophy 31.7 NPC2 NPC1
8 niemann-pick disease, type b 31.6 SMPD1 NPC2 NPC1
9 lysosomal and lipase deficiency 31.6 SMPD1 NPC2 NPC1
10 lysosomal acid lipase deficiency 31.5 SMPD1 NPC2 NPC1
11 c syndrome 31.5 SMPD1 NPC2 NPC1
12 mucopolysaccharidosis-plus syndrome 31.5 SMPD1 NPC2 NPC1
13 pick disease of brain 31.5 SMPD1 NPC2 NPC1
14 mucopolysaccharidosis iii 31.3 NPC2 NPC1
15 gm1 gangliosidosis 31.1 PSAP NPC2 NPC1
16 niemann-pick disease, type a 30.9 SMPD1 PSAP NPC2 NPC1
17 neuronal ceroid lipofuscinosis 30.8 SMPD1 PSAP NPC2
18 sandhoff disease 30.7 SMPD1 PSAP NPC2 NPC1
19 gm2 gangliosidosis 30.7 SMPD1 PSAP NPC2 NPC1
20 mucolipidosis 30.7 SMPD1 PSAP NPC2 NPC1
21 metachromatic leukodystrophy 30.7 SMPD1 PSAP NPC2 NPC1
22 sphingolipidosis 30.5 SMPD1 PSAP NPC2 NPC1 NAGA
23 lysosomal storage disease 30.5 SMPD1 PSAP NPC2 NPC1 NAGA
24 tay-sachs disease 30.0 SMPD1 PSAP NPC2 NPC1 NAGA
25 niemann-pick disease 29.9 SMPD1 PSAP NPC2 NPC1 ACYP1
26 lipid storage disease 29.5 SMPD1 PSAP NPC2 NPC1
27 niemann-pick disease, type c1 28.9 SMPD1 PSAP NPC2 NPC1 NAGA ACYP1
28 dystonia 11.6
29 inherited metabolic disorder 11.4
30 dementia 11.3
31 glycine n-methyltransferase deficiency 11.2
32 scheie syndrome 11.2
33 microcephaly 11.2
34 ceroid lipofuscinosis, neuronal, 3 11.0
35 aspiration pneumonia 11.0
36 malignant pineal area germ cell neoplasm 11.0
37 lipid pneumonia 11.0
38 pulmonary alveolar proteinosis 10.3
39 bilirubin metabolic disorder 10.3
40 cystic lymphangioma 10.3
41 lung disease 10.3
42 autosomal recessive disease 10.3
43 acid sphingomyelinase deficiency 10.2 SMPD1 NPC1
44 hepatocellular carcinoma 10.1
45 respiratory failure 10.1
46 cholera 10.1
47 urticaria 10.1
48 neuroaxonal dystrophy 10.1
49 anovulation 10.1
50 liver cirrhosis 10.1

Graphical network of the top 20 diseases related to Niemann-Pick Disease, Type C2:



Diseases related to Niemann-Pick Disease, Type C2

Symptoms & Phenotypes for Niemann-Pick Disease, Type C2

Human phenotypes related to Niemann-Pick Disease, Type C2:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 global developmental delay 31 HP:0001263
3 splenomegaly 31 HP:0001744
4 hepatomegaly 31 HP:0002240
5 muscular hypotonia 31 HP:0001252
6 stereotypy 31 HP:0000733
7 spasticity 31 HP:0001257
8 dysphagia 31 HP:0002015
9 ataxia 31 HP:0001251
10 respiratory insufficiency 31 HP:0002093
11 dysarthria 31 HP:0001260
12 dystonia 31 HP:0001332
13 psychosis 31 HP:0000709
14 respiratory failure 31 HP:0002878
15 prolonged neonatal jaundice 31 HP:0006579
16 dementia 31 HP:0000726
17 generalized hypotonia 31 HP:0001290
18 bone-marrow foam cells 31 HP:0004333
19 cataplexy 31 HP:0002524
20 fetal ascites 31 HP:0001791
21 low cholesterol esterification rate 31 HP:0003349
22 vertical supranuclear gaze palsy 31 HP:0000511
23 loss of speech 31 HP:0002371
24 sea-blue histiocytosis 31 HP:0001982
25 neurofibrillary tangles 31 HP:0002185
26 perseveration 31 HP:0030223
27 foam cells in visceral organs and cns 31 HP:0003640
28 seizure 31 HP:0001250
29 abnormal circulating cholesterol concentration 31 HP:0003107

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Neurologic Central Nervous System:
seizures
spasticity
dysarthria
mental deterioration
dystonia
more
Neurologic Behavioral Psychiatric Manifestations:
psychosis
behavioral problems
poor school performance
perseverative behavior

Prenatal Manifestations:
fetal ascites

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

Abdomen Liver:
hepatomegaly
neonatal jaundice

Abdomen Gastrointestinal:
dysphagia

Respiratory Lung:
respiratory failure
pulmonary involvement, severe

Head And Neck Eyes:
vertical supranuclear gaze palsy

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

Clinical features from OMIM:

607625

UMLS symptoms related to Niemann-Pick Disease, Type C2:


seizures, muscle spasticity, cerebellar ataxia

Drugs & Therapeutics for Niemann-Pick Disease, Type C2

Drugs for Niemann-Pick Disease, Type C2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
2
Hydroxychloroquine Approved Phase 1, Phase 2 118-42-3 3652
3
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
4
Itraconazole Approved, Investigational Phase 1, Phase 2 84625-61-6 55283
5
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
6
Glycine Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 56-40-6 750
7
Betadex Experimental Phase 1, Phase 2 7585-39-9 320761
8 Histone Deacetylase Inhibitors Phase 1, Phase 2
9 Liver Extracts Phase 1, Phase 2
10
Bilirubin Phase 1, Phase 2 69853-43-6, 635-65-4 21252250 5280352
11 Hormone Antagonists Phase 1, Phase 2
12 Cytochrome P-450 Enzyme Inhibitors Phase 1, Phase 2
13 Anti-Infective Agents Phase 1, Phase 2
14
Hydroxyitraconazole Phase 1, Phase 2
15 Androgens Phase 1, Phase 2
16 Antiprotozoal Agents Phase 1, Phase 2
17 Antiparasitic Agents Phase 1, Phase 2
18 Antifungal Agents Phase 1, Phase 2
19 Antirheumatic Agents Phase 1, Phase 2
20 Cytochrome P-450 CYP3A Inhibitors Phase 1, Phase 2
21 Antimalarials Phase 1, Phase 2
22 Hormones Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
3 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
4 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
5 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
6 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1 VTS-270
7 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
8 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Niemann Pick Disease Completed NCT03883750
9 Biomarker for Niemann Pick Type C Disease (NPC1/NPC2) an International, Multicenter, Epidemiological Study Active, not recruiting NCT01306604

Search NIH Clinical Center for Niemann-Pick Disease, Type C2

Genetic Tests for Niemann-Pick Disease, Type C2

Genetic tests related to Niemann-Pick Disease, Type C2:

# Genetic test Affiliating Genes
1 Niemann-Pick Disease, Type C2 29 NPC2

Anatomical Context for Niemann-Pick Disease, Type C2

MalaCards organs/tissues related to Niemann-Pick Disease, Type C2:

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

Publications for Niemann-Pick Disease, Type C2

Articles related to Niemann-Pick Disease, Type C2:

(show top 50) (show all 457)
# Title Authors PMID Year
1
Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2. 6 56 61
17470133 2007
2
Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2. 56 6 61
12447927 2002
3
Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. 6 56 61
11567215 2001
4
Identification of HE1 as the second gene of Niemann-Pick C disease. 6 56
11125141 2000
5
Lipid imbalance in the neurological disorder, Niemann-Pick C disease. 61 56
16797010 2006
6
Niemann-Pick Disease Type C 61 6
20301473 2000
7
Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis. 56
8554047 1996
8
Complementation studies in Niemann-Pick disease type C indicate the existence of a second group. 56
8071958 1994
9
The integrity of a cholesterol-binding pocket in Niemann-Pick C2 protein is necessary to control lysosome cholesterol levels. 54 61
12591949 2003
10
Pre-mRNA splicing defects and RNA binding protein involvement in Niemann Pick type C disease. 61
32387451 2020
11
Unbiased yeast screens identify cellular pathways affected in Niemann-Pick disease type C. 61
32487688 2020
12
Recent advances in the treatment of Niemann pick disease type C: A mini-review. 61
32428546 2020
13
Structural Basis of Low-pH-Dependent Lysosomal Cholesterol Egress by NPC1 and NPC2. 61
32544384 2020
14
Existence and distribution of Niemann-Pick type 2C (NPC2) in prawn reproductive tract and its putative role as a cholesterol modulator during sperm transit in the vas deferens. 61
32556727 2020
15
Cholesterol Handling in Lysosomes and Beyond. 61
32413315 2020
16
Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions. 61
32522631 2020
17
2-Hydroxypropyl-gamma-cyclodextrin overcomes NPC1 deficiency by enhancing lysosome-ER association and autophagy. 61
32457374 2020
18
Targeting defective sphingosine kinase 1 in Niemann-Pick type C disease with an activator mitigates cholesterol accumulation. 61
32385114 2020
19
Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease. 61
31707734 2020
20
An induced pluripotent stem cell line (TRNDi001-D) from a Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous p. I1061T (c. 3182T>C) mutation in the NPC1 gene. 61
32114296 2020
21
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease. 61
32033912 2020
22
Discovery of novel biomarkers for atherosclerotic aortic aneurysm through proteomics-based assessment of disease progression. 61
32286426 2020
23
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations. 61
32248828 2020
24
New variants in Spanish Niemann-Pick type c disease patients. 61
32060698 2020
25
Relative content of Niemann-Pick C2 protein (NPC2) in seminal plasma, but not that of spermadhesin AQN-1, is related to boar sperm cryotolerance. 61
31711697 2020
26
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants. 61
32138288 2020
27
Gene therapy to the blood-brain barrier with resulting protein secretion as a strategy for treatment of Niemann Picks type C2 disease. 61
32072649 2020
28
Binding and intracellular transport of 25-hydroxycholesterol by Niemann-Pick C2 protein. 61
31521631 2020
29
Expanded complement of Niemann-Pick type C2-like protein genes in Clonorchis sinensis suggests functions beyond sterol binding and transport. 61
31973758 2020
30
Novel compound heterozygous mutation in NPC1 gene cause Niemann-Pick disease type C with juvenile onset. 61
32482919 2020
31
Loss of amyloid precursor protein exacerbates early inflammation in Niemann-Pick disease type C. 61
31847862 2019
32
Generation of the Niemann-Pick type C2 patient-derived iPSC line AKOSi001-A. 61
31669975 2019
33
Blood biomarkers for memory: toward early detection of risk for Alzheimer disease, pharmacogenomics, and repurposed drugs. 61
31792364 2019
34
Drugs used in the treatment of bipolar disorder and their effects on cholesterol biosynthesis - A possible therapeutic mechanism. 61
31535581 2019
35
Non-specific phospholipases C, NPC2 and NPC6, are required for root growth in Arabidopsis. 61
31400172 2019
36
Intracellular cholesterol trafficking is dependent upon NPC2 interaction with lysobisphosphatidic acid. 61
31580258 2019
37
Quantitative Lipidomics in Pulmonary Alveolar Proteinosis. 61
31002528 2019
38
The characteristics and biological significance of NPC2: Mutation and disease. 61
31843136 2019
39
Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism. 61
31197681 2019
40
Screening for Niemann-Pick type C disease in neurodegenerative diseases. 61
31221578 2019
41
Structural Insight into Eukaryotic Sterol Transport through Niemann-Pick Type C Proteins. 61
31543266 2019
42
Increased interactions and engulfment of dendrites by microglia precede Purkinje cell degeneration in a mouse model of Niemann Pick Type-C. 61
31605022 2019
43
Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test. 61
31635081 2019
44
Clinical and neurophysiological characteristics of heterozygous NPC1 carriers. 61
31497485 2019
45
Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene. 61
30820861 2019
46
MD-2 Homologue Recognizes the White Spot Syndrome Virus Lipid Component and Induces Antiviral Molecule Expression in Shrimp. 61
31331974 2019
47
Immune response-related genes associated to blocking midgut dengue virus infection in Aedes aegypti strains that differ in susceptibility. 61
29389079 2019
48
Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients. 61
31296176 2019
49
Sterol transfer by atypical cholesterol-binding NPC2 proteins in coral-algal symbiosis. 61
31159921 2019
50
Web-Based Bioinformatics Predictors: Recommendations to Assess Lysosomal Cholesterol Trafficking Diseases-Related Genes. 61
31277084 2019

Variations for Niemann-Pick Disease, Type C2

ClinVar genetic disease variations for Niemann-Pick Disease, Type C2:

6 (show all 41) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NPC2 NM_006432.5(NPC2):c.79dup (p.Cys27fs)duplication Pathogenic 643285 14:74959898-74959899 14:74493195-74493196
2 NPC2 NM_006432.5(NPC2):c.157C>T (p.Gln53Ter)SNV Pathogenic 915429 14:74953065-74953065 14:74486362-74486362
3 NPC2 NM_006432.4(NPC2):c.27del (p.Leu10fs)deletion Pathogenic 21457 rs80358267 14:74959951-74959951 14:74493248-74493248
4 NPC2 NM_006432.4(NPC2):c.58G>T (p.Glu20Ter)SNV Pathogenic 8477 rs80358260 14:74959920-74959920 14:74493217-74493217
5 NPC2 NPC2, 1-BP DEL, 111Adeletion Pathogenic 8478
6 NPC2 NM_006432.4(NPC2):c.352G>T (p.Glu118Ter)SNV Pathogenic 8480 rs80358266 14:74951129-74951129 14:74484426-74484426
7 NPC2 NM_006432.4(NPC2):c.199T>C (p.Ser67Pro)SNV Pathogenic 8482 rs11694 14:74951282-74951282 14:74484579-74484579
8 NPC2 NM_006432.4(NPC2):c.115G>A (p.Val39Met)SNV Pathogenic 8483 rs80358261 14:74953107-74953107 14:74486404-74486404
9 NPC2 NC_000014.9:g.(?_74480264)_(74493284_?)deldeletion Pathogenic 831251 14:74946967-74959987
10 NPC2 NM_006432.5(NPC2):c.210_213dup (p.Ala72fs)duplication Pathogenic 856293 14:74951267-74951268 14:74484564-74484565
11 NPC2 NM_006432.4(NPC2):c.358C>T (p.Pro120Ser)SNV Pathogenic 8486 rs104894458 14:74951123-74951123 14:74484420-74484420
12 NPC2 NM_006432.4(NPC2):c.141C>A (p.Cys47Ter)SNV Pathogenic 21456 rs80358263 14:74953081-74953081 14:74486378-74486378
13 NPC2 NM_006432.4(NPC2):c.295T>C (p.Cys99Arg)SNV Pathogenic 21458 rs80358264 14:74951186-74951186 14:74484483-74484483
14 NPC2 NM_006432.4(NPC2):c.3G>C (p.Met1Ile)SNV Pathogenic 132902 rs483352893 14:74959975-74959975 14:74493272-74493272
15 NPC2 NM_006432.4(NPC2):c.82+2T>CSNV Pathogenic 242903 rs879253740 14:74959894-74959894 14:74493191-74493191
16 NPC2 NM_006432.4(NPC2):c.133C>T (p.Gln45Ter)SNV Likely pathogenic 21455 rs80358262 14:74953089-74953089 14:74486386-74486386
17 NPC2 NM_006432.4(NPC2):c.436C>T (p.Gln146Ter)SNV Likely pathogenic 8485 rs104894457 14:74947410-74947410 14:74480707-74480707
18 NPC2 NM_006432.4(NPC2):c.422G>A (p.Trp141Ter)SNV Likely pathogenic 553522 rs1555345616 14:74947424-74947424 14:74480721-74480721
19 NPC2 NM_006432.4(NPC2):c.2T>C (p.Met1Thr)SNV Likely pathogenic 553474 rs1555346368 14:74959976-74959976 14:74493273-74493273
20 NPC2 NM_006432.4(NPC2):c.364-2A>GSNV Likely pathogenic 550768 rs777654308 14:74947484-74947484 14:74480781-74480781
21 NPC2 NM_006432.4(NPC2):c.191-1_193deldeletion Likely pathogenic 554877 rs1555345873 14:74951288-74951291 14:74484585-74484588
22 NPC2 NM_006432.4(NPC2):c.3G>A (p.Met1Ile)SNV Likely pathogenic 557572 rs483352893 14:74959975-74959975 14:74493272-74493272
23 NPC2 NM_006432.4(NPC2):c.1A>G (p.Met1Val)SNV Likely pathogenic 554412 rs1555346369 14:74959977-74959977 14:74493274-74493274
24 NPC2 NM_006432.4(NPC2):c.190+5G>ASNV Conflicting interpretations of pathogenicity 8479 rs80358268 14:74953027-74953027 14:74486324-74486324
25 NPC2 NM_006432.5(NPC2):c.273T>C (p.Asp91=)SNV Conflicting interpretations of pathogenicity 715373 14:74951208-74951208 14:74484505-74484505
26 NPC2 NM_006432.4(NPC2):c.450T>C (p.His150=)SNV Conflicting interpretations of pathogenicity 282548 rs374489111 14:74946983-74946983 14:74480280-74480280
27 NPC2 NM_006432.4(NPC2):c.363+7G>ASNV Conflicting interpretations of pathogenicity 314238 rs200463204 14:74951111-74951111 14:74484408-74484408
28 ACYP1 , NPC2 NM_006432.4(NPC2):c.441+1G>ASNV Conflicting interpretations of pathogenicity 100734 rs140130028 14:74947404-74947404 14:74480701-74480701
29 NPC2 NM_006432.4(NPC2):c.212A>G (p.Lys71Arg)SNV Uncertain significance 314239 rs142075589 14:74951269-74951269 14:74484566-74484566
30 NPC2 NM_006432.4(NPC2):c.292A>C (p.Asn98His)SNV Uncertain significance 377030 rs142858704 14:74951189-74951189 14:74484486-74484486
31 NPC2 NM_006432.4(NPC2):c.271G>A (p.Asp91Asn)SNV Uncertain significance 290576 rs148607507 14:74951210-74951210 14:74484507-74484507
32 NPC2 NM_006432.4(NPC2):c.332del (p.Asn111fs)deletion Uncertain significance 21459 rs80358265 14:74951149-74951149 14:74484446-74484446
33 NPC2 NM_006432.5(NPC2):c.169G>A (p.Val57Ile)SNV Uncertain significance 837743 14:74953053-74953053 14:74486350-74486350
34 NPC2 NM_006432.4(NPC2):c.442-1G>ASNV Uncertain significance 555990 rs1555345562 14:74946992-74946992 14:74480289-74480289
35 NPC2 NC_000014.9:g.(?_74480254)_(74486456_?)deldeletion Uncertain significance 655239 14:74946957-74953159 14:74480254-74486456
36 NPC2 NM_006432.4(NPC2):c.333T>G (p.Asn111Lys)SNV Uncertain significance 550596 rs757377148 14:74951148-74951148 14:74484445-74484445
37 NPC2 NM_006432.4(NPC2):c.417_419CTG[1] (p.Cys140del)short repeat Uncertain significance 554860 rs781255433 14:74947424-74947426 14:74480721-74480723
38 NPC2 NM_006432.4(NPC2):c.140G>T (p.Cys47Phe)SNV Uncertain significance 549984 rs1555345993 14:74953082-74953082 14:74486379-74486379
39 NPC2 NM_006432.5(NPC2):c.57C>T (p.Ala19=)SNV Likely benign 783047 14:74959921-74959921 14:74493218-74493218
40 ACYP1 , NPC2 NM_006432.4(NPC2):c.88G>A (p.Val30Met)SNV Benign/Likely benign 183281 rs151220873 14:74953134-74953134 14:74486431-74486431
41 NPC2 NM_006432.4(NPC2):c.442-4A>CSNV Benign 197788 rs114950106 14:74946995-74946995 14:74480292-74480292

UniProtKB/Swiss-Prot genetic disease variations for Niemann-Pick Disease, Type C2:

73
# Symbol AA change Variation ID SNP ID
1 NPC2 p.Val39Met VAR_015848 rs80358261
2 NPC2 p.Ser67Pro VAR_015849 rs11694
3 NPC2 p.Val30Met VAR_043303 rs151220873
4 NPC2 p.Cys47Phe VAR_043304 rs155534599
5 NPC2 p.Cys93Phe VAR_043305 rs143960270
6 NPC2 p.Cys99Arg VAR_043306 rs80358264
7 NPC2 p.Pro120Ser VAR_043307 rs104894458

Expression for Niemann-Pick Disease, Type C2

Search GEO for disease gene expression data for Niemann-Pick Disease, Type C2.

Pathways for Niemann-Pick Disease, Type C2

Pathways related to Niemann-Pick Disease, Type C2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.13 SMPD1 PSAP NPC2 NPC1 NAGA
2
Show member pathways
10.1 NPC2 NPC1

GO Terms for Niemann-Pick Disease, Type C2

Cellular components related to Niemann-Pick Disease, Type C2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosomal lumen GO:0043202 9.13 SMPD1 PSAP NPC2
2 lysosome GO:0005764 9.02 SMPD1 PSAP NPC2 NPC1 NAGA

Biological processes related to Niemann-Pick Disease, Type C2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glycosphingolipid metabolic process GO:0006687 9.46 SMPD1 PSAP
2 ceramide metabolic process GO:0006672 9.43 SMPD1 PSAP
3 low-density lipoprotein particle clearance GO:0034383 9.4 NPC2 NPC1
4 cholesterol transport GO:0030301 9.37 NPC2 NPC1
5 lipid transport GO:0006869 9.33 PSAP NPC2 NPC1
6 cholesterol efflux GO:0033344 9.32 NPC2 NPC1
7 lysosomal transport GO:0007041 9.26 PSAP NPC1
8 cholesterol metabolic process GO:0008203 9.13 SMPD1 NPC2 NPC1
9 intracellular cholesterol transport GO:0032367 8.62 NPC2 NPC1

Molecular functions related to Niemann-Pick Disease, Type C2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cholesterol binding GO:0015485 8.62 NPC2 NPC1

Sources for Niemann-Pick Disease, Type C2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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