NPC2
MCID: NMN014
MIFTS: 49

Niemann-Pick Disease, Type C2 (NPC2)

Categories: Eye diseases, Genetic diseases, Liver diseases, Mental 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 57 29 13 54 6 71
Niemann-Pick Disease Type C2 12 20 15 39
Npc2 57 12 20 73
Niemann-Pick C2 Disease 74
Niemann-Pick Disease C2 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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

GARD : 20 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 aspiration pneumonia and mucolipidosis iv, 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 Metabolism and Lysosome. Affiliated tissues include spleen, liver and bone, and related phenotypes are intellectual disability and spasticity

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

OMIM® : 57 Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene (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) (Updated 05-Mar-2021)

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 79)
# Related Disease Score Top Affiliating Genes
1 aspiration pneumonia 31.3 NPC2 NPC1
2 mucolipidosis iv 31.3 NPC2 NPC1
3 lysosomal and lipase deficiency 31.1 SMPD1 NPC2 NPC1
4 niemann-pick disease, type b 31.1 SMPD1 NPC2 NPC1
5 sveinsson chorioretinal atrophy 31.0 NPC2 NPC1
6 lysosomal acid lipase deficiency 31.0 SMPD1 NPC2 NPC1
7 c syndrome 31.0 SMPD1 NPC2 NPC1
8 mucopolysaccharidosis-plus syndrome 30.9 SMPD1 NPC2 NPC1
9 pick disease of brain 30.9 SMPD1 NPC2 NPC1
10 gm1 gangliosidosis 30.9 PSAP NPC2 NPC1
11 ceroid lipofuscinosis, neuronal, 3 30.7 SMPD1 NPC2 NPC1 KCNIP3
12 gaucher's disease 30.5 SMPD1 PSAP NPC2 NPC1
13 neuronal ceroid lipofuscinosis 30.4 SMPD1 PSAP NPC2
14 gm1-gangliosidosis, type i 30.4 SMPD1 PSAP NPC2 NPC1
15 sandhoff disease 30.4 SMPD1 PSAP NPC2 NPC1
16 krabbe disease 30.4 SMPD1 PSAP NPC2 NPC1
17 metachromatic leukodystrophy 30.4 SMPD1 PSAP NPC2 NPC1
18 gaucher disease, type i 30.3 SMPD1 PSAP NPC2 NPC1
19 sphingolipidosis 30.2 SMPD1 PSAP NPC2 NPC1 NAGA
20 lysosomal storage disease 30.2 SMPD1 PSAP NPC2 NPC1 NAGA
21 niemann-pick disease, type a 30.1 SMPD1 PSAP NPC2 NPC1 NAGA
22 gm2 gangliosidosis 30.1 SMPD1 PSAP NPC2 NPC1 NAGA
23 tay-sachs disease 30.1 SMPD1 PSAP NPC2 NPC1 NAGA
24 niemann-pick disease 30.0 SMPD1 PSAP NPC2 NPC1 ACYP1
25 lipid storage disease 29.5 SMPD1 PSAP NPC2 NPC1
26 niemann-pick disease, type c1 29.3 SMPD1 PSAP NPC2 NPC1 NAGA ACYP1
27 dementia 11.1
28 dystonia 11.1
29 glycine n-methyltransferase deficiency 11.0
30 scheie syndrome 11.0
31 inherited metabolic disorder 10.8
32 mucopolysaccharidosis iii 10.8
33 disease of mental health 10.8
34 malignant pineal area germ cell neoplasm 10.8
35 lipid pneumonia 10.8
36 niemann-pick disease type c, juvenile neurologic onset 10.2 NPC2 NPC1
37 niemann-pick disease type c, adult neurologic onset 10.2 NPC2 NPC1
38 niemann-pick disease type c, severe early infantile neurologic onset 10.2 NPC2 NPC1
39 niemann-pick disease type c, late infantile neurologic onset 10.2 NPC2 NPC1
40 niemann-pick disease type c, severe perinatal form 10.2 NPC2 NPC1
41 hepatocellular carcinoma 10.2
42 pulmonary alveolar proteinosis 10.2
43 bilirubin metabolic disorder 10.2
44 cystic lymphangioma 10.2
45 acid sphingomyelinase deficiency 10.0 SMPD1 NPC1
46 cerebral lipidosis 10.0 SMPD1 NPC1
47 autosomal recessive disease 10.0
48 thyroid cancer, nonmedullary, 1 9.8
49 body mass index quantitative trait locus 11 9.8
50 ataxia and polyneuropathy, adult-onset 9.8

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
spasticity
dysarthria
mental deterioration
dystonia
more
Abdomen Spleen:
splenomegaly

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 Gastrointestinal:
dysphagia

Abdomen Liver:
hepatomegaly
neonatal jaundice

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 (Updated 05-Mar-2021)

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


seizures, muscle spasticity, cerebellar ataxia

Drugs & Therapeutics for Niemann-Pick Disease, Type C2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
Spleen, Liver, Bone, Bone Marrow, Brain, Lung, Skin

Publications for Niemann-Pick Disease, Type C2

Articles related to Niemann-Pick Disease, Type C2:

(show top 50) (show all 486)
# Title Authors PMID Year
1
Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2. 57 61 6
17470133 2007
2
Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2. 61 57 6
12447927 2002
3
Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. 57 6 61
11567215 2001
4
Identification of HE1 as the second gene of Niemann-Pick C disease. 6 57
11125141 2000
5
Lipid imbalance in the neurological disorder, Niemann-Pick C disease. 57 61
16797010 2006
6
Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis. 57
8554047 1996
7
Complementation studies in Niemann-Pick disease type C indicate the existence of a second group. 57
8071958 1994
8
The integrity of a cholesterol-binding pocket in Niemann-Pick C2 protein is necessary to control lysosome cholesterol levels. 61 54
12591949 2003
9
Diseasome and comorbidities complexities of SARS-CoV-2 infection with common malignant diseases. 61
33539530 2021
10
Niemann Pick C2 protein enables cholesterol transfer from endo-lysosomes to the plasma membrane for efflux by shedding of extracellular vesicles. 61
33422548 2021
11
Cat-NPC2, a Newly Identified Allergen, With High Cross-Reactivity to Can f 7. 61
33191681 2021
12
Variation in Expression of Reference Genes across Life Stages of a Bee, Megachile rotundata. 61
33418888 2021
13
Non-specific phospholipases C2 and 6 redundantly function in pollen tube growth via triacylglycerol production in Arabidopsis. 61
33506578 2021
14
NPC2 expression in thyroid tumors and its possible diagnostic utility. 61
33532030 2021
15
Pluripotent Stem Cells for Disease Modeling and Drug Discovery in Niemann-Pick Type C1. 61
33445799 2021
16
Intracerebroventricular Treatment with 2-Hydroxypropyl-β-Cyclodextrin Decreased Cerebellar and Hepatic Glycoprotein Nonmetastatic Melanoma Protein B (GPNMB) Expression in Niemann-Pick Disease Type C Model Mice. 61
33466390 2021
17
Beneficial effects of primidone in Niemann-Pick disease type C (NPC)-model cells and mice: Reduction of unesterified cholesterol levels in cells and extension of lifespan in mice. 61
33503462 2021
18
Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1. 61
33257258 2020
19
Generation of an iPSC line (AKOSi004-A) from fibroblasts of a female adult NPC1 patient, carrying the compound heterozygous mutation p.Val1023Serfs*15/p.Gly992Arg and of an iPSC line (AKOSi005-A) from a female adult control individual. 61
33360098 2020
20
Human iNSC-derived brain organoid model of lysosomal storage disorder in Niemann-Pick disease type C. 61
33311479 2020
21
Evolutionary History of Major Chemosensory Gene Families across Panarthropoda. 61
32750126 2020
22
Delineation of metabolic responses of Npc1-/-nih mice lacking the cholesterol-esterifying enzyme SOAT2 to acute treatment with 2-hydroxypropyl-β-cyclodextrin. 61
32890578 2020
23
Understanding and Treating Niemann-Pick Type C Disease: Models Matter. 61
33256121 2020
24
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
25
Mechanistic Insight into Lipid Binding to Yeast Niemann Pick Type C2 Protein. 61
33141558 2020
26
Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study. 61
33228797 2020
27
Defective platelet function in Niemann-Pick disease type C1. 61
33204596 2020
28
High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders. 61
32592146 2020
29
Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions. 61
32522631 2020
30
Cholesterol binding to the sterol-sensing region of Niemann Pick C1 protein confines dynamics of its N-terminal domain. 61
33021976 2020
31
Neuropsychological and behavioral disorders as presentation symptoms in two brothers with early-infantile Niemann-Pick type C. 61
32921771 2020
32
Blood biomarkers for memory: toward early detection of risk for Alzheimer disease, pharmacogenomics, and repurposed drugs. 61
31792364 2020
33
Molecular dynamics study with mutation shows that N-terminal domain structural re-orientation in Niemann-Pick type C1 is required for proper alignment of cholesterol transport. 61
32880929 2020
34
Sea-blue histiocytes in the bone marrow of a patient with Niemann-Pick disease type C2. 61
32616471 2020
35
Pre-mRNA splicing defects and RNA binding protein involvement in Niemann Pick type C disease. 61
32387451 2020
36
Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease. 61
32709131 2020
37
Unbiased yeast screens identify cellular pathways affected in Niemann-Pick disease type C. 61
32487688 2020
38
Structural Basis of Low-pH-Dependent Lysosomal Cholesterol Egress by NPC1 and NPC2. 61
32544384 2020
39
Targeting defective sphingosine kinase 1 in Niemann-Pick type C disease with an activator mitigates cholesterol accumulation. 61
32385114 2020
40
Targeting defective sphingosine kinase 1 in Niemann-Pick type C disease with an activator mitigates cholesterol accumulation. 61
33516506 2020
41
Mechanistic insights into the anticandidal action of Vanillin reveal disruption of cell surface integrity and mitochondrial functioning. 61
32614756 2020
42
Recent advances in the treatment of Niemann pick disease type C: A mini-review. 61
32428546 2020
43
Cholesterol Handling in Lysosomes and Beyond. 61
32413315 2020
44
Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease. 61
31707734 2020
45
2-Hydroxypropyl-gamma-cyclodextrin overcomes NPC1 deficiency by enhancing lysosome-ER association and autophagy. 61
32457374 2020
46
Discovery of novel biomarkers for atherosclerotic aortic aneurysm through proteomics-based assessment of disease progression. 61
32286426 2020
47
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
48
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease. 61
32033912 2020
49
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations. 61
32248828 2020
50
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

Variations for Niemann-Pick Disease, Type C2

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

6 (show top 50) (show all 52)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NPC2 NPC2, 1-BP DEL, 111A Deletion Pathogenic 8478
2 NPC2 NM_006432.4(NPC2):c.199T>C (p.Ser67Pro) SNV Pathogenic 8482 rs11694 14:74951282-74951282 14:74484579-74484579
3 NPC2 NM_006432.4(NPC2):c.115G>A (p.Val39Met) SNV Pathogenic 8483 rs80358261 14:74953107-74953107 14:74486404-74486404
4 NPC2 NM_006432.4(NPC2):c.141C>A (p.Cys47Ter) SNV Pathogenic 21456 rs80358263 14:74953081-74953081 14:74486378-74486378
5 NPC2 NM_006432.4(NPC2):c.27del (p.Leu10fs) Deletion Pathogenic 21457 rs80358267 14:74959951-74959951 14:74493248-74493248
6 NPC2 NM_006432.4(NPC2):c.295T>C (p.Cys99Arg) SNV Pathogenic 21458 rs80358264 14:74951186-74951186 14:74484483-74484483
7 NPC2 NM_006432.4(NPC2):c.3G>C (p.Met1Ile) SNV Pathogenic 132902 rs483352893 14:74959975-74959975 14:74493272-74493272
8 NPC2 NM_006432.4(NPC2):c.82+2T>C SNV Pathogenic 242903 rs879253740 14:74959894-74959894 14:74493191-74493191
9 NPC2 NM_006432.4(NPC2):c.358C>T (p.Pro120Ser) SNV Pathogenic 8486 rs104894458 14:74951123-74951123 14:74484420-74484420
10 NPC2 NM_006432.5(NPC2):c.79dup (p.Cys27fs) Duplication Pathogenic 643285 rs767899043 14:74959898-74959899 14:74493195-74493196
11 NPC2 NC_000014.9:g.(?_74480264)_(74493284_?)del Deletion Pathogenic 831251 14:74946967-74959987
12 NPC2 NM_006432.5(NPC2):c.210_213dup (p.Ala72fs) Duplication Pathogenic 856293 14:74951267-74951268 14:74484564-74484565
13 NPC2 NM_006432.5(NPC2):c.157C>T (p.Gln53Ter) SNV Pathogenic 915429 14:74953065-74953065 14:74486362-74486362
14 NPC2 NM_006432.4(NPC2):c.58G>T (p.Glu20Ter) SNV Pathogenic 8477 rs80358260 14:74959920-74959920 14:74493217-74493217
15 NPC2 NM_006432.4(NPC2):c.352G>T (p.Glu118Ter) SNV Pathogenic 8480 rs80358266 14:74951129-74951129 14:74484426-74484426
16 NPC2 NM_006432.4(NPC2):c.3G>A (p.Met1Ile) SNV Likely pathogenic 557572 rs483352893 14:74959975-74959975 14:74493272-74493272
17 NPC2 NM_006432.4(NPC2):c.133C>T (p.Gln45Ter) SNV Likely pathogenic 21455 rs80358262 14:74953089-74953089 14:74486386-74486386
18 NPC2 NM_006432.4(NPC2):c.191-1_193del Deletion Likely pathogenic 554877 rs1555345873 14:74951288-74951291 14:74484585-74484588
19 NPC2 NM_006432.5(NPC2):c.357T>A (p.Tyr119Ter) SNV Likely pathogenic 983844 14:74951124-74951124 14:74484421-74484421
20 NPC2 NM_006432.5(NPC2):c.334A>T (p.Lys112Ter) SNV Likely pathogenic 983845 14:74951147-74951147 14:74484444-74484444
21 NPC2 NM_006432.5(NPC2):c.304C>T (p.Gln102Ter) SNV Likely pathogenic 983846 14:74951177-74951177 14:74484474-74484474
22 NPC2 NM_006432.5(NPC2):c.297C>A (p.Cys99Ter) SNV Likely pathogenic 983847 14:74951184-74951184 14:74484481-74484481
23 NPC2 NM_006432.5(NPC2):c.142C>T (p.Gln48Ter) SNV Likely pathogenic 983848 14:74953080-74953080 14:74486377-74486377
24 NPC2 NM_006432.4(NPC2):c.364-2A>G SNV Likely pathogenic 550768 rs777654308 14:74947484-74947484 14:74480781-74480781
25 NPC2 NM_006432.4(NPC2):c.2T>C (p.Met1Thr) SNV Likely pathogenic 553474 rs1555346368 14:74959976-74959976 14:74493273-74493273
26 NPC2 NM_006432.4(NPC2):c.422G>A (p.Trp141Ter) SNV Likely pathogenic 553522 rs1555345616 14:74947424-74947424 14:74480721-74480721
27 NPC2 NM_006432.4(NPC2):c.1A>G (p.Met1Val) SNV Likely pathogenic 554412 rs1555346369 14:74959977-74959977 14:74493274-74493274
28 NPC2 NM_006432.4(NPC2):c.436C>T (p.Gln146Ter) SNV Likely pathogenic 8485 rs104894457 14:74947410-74947410 14:74480707-74480707
29 NPC2 NM_006432.4(NPC2):c.190+5G>A SNV Conflicting interpretations of pathogenicity 8479 rs80358268 14:74953027-74953027 14:74486324-74486324
30 ACYP1 NM_006432.4(NPC2):c.441+1G>A SNV Conflicting interpretations of pathogenicity 100734 rs140130028 14:74947404-74947404 14:74480701-74480701
31 NPC2 NM_006432.5(NPC2):c.56C>A (p.Ala19Asp) SNV Uncertain significance 884292 14:74959922-74959922 14:74493219-74493219
32 NPC2 NM_006432.4(NPC2):c.292A>C (p.Asn98His) SNV Uncertain significance 377030 rs142858704 14:74951189-74951189 14:74484486-74484486
33 NPC2 NM_006432.4(NPC2):c.212A>G (p.Lys71Arg) SNV Uncertain significance 314239 rs142075589 14:74951269-74951269 14:74484566-74484566
34 NPC2 NM_006432.5(NPC2):c.169G>A (p.Val57Ile) SNV Uncertain significance 837743 14:74953053-74953053 14:74486350-74486350
35 NPC2 NM_006432.4(NPC2):c.332del (p.Asn111fs) Deletion Uncertain significance 21459 rs80358265 14:74951149-74951149 14:74484446-74484446
36 NPC2 NM_006432.4(NPC2):c.417_419CTG[1] (p.Cys140del) Microsatellite Uncertain significance 554860 rs781255433 14:74947424-74947426 14:74480721-74480723
37 NPC2 NM_006432.4(NPC2):c.140G>T (p.Cys47Phe) SNV Uncertain significance 549984 rs1555345993 14:74953082-74953082 14:74486379-74486379
38 NPC2 NM_006432.4(NPC2):c.333T>G (p.Asn111Lys) SNV Uncertain significance 550596 rs757377148 14:74951148-74951148 14:74484445-74484445
39 NPC2 NM_006432.5(NPC2):c.454T>C (p.Ter152Gln) SNV Uncertain significance 990177 14:74946979-74946979 14:74480276-74480276
40 NPC2 NM_006432.5(NPC2):c.414C>A (p.Leu138=) SNV Uncertain significance 990178 14:74947432-74947432 14:74480729-74480729
41 NPC2 NM_006432.5(NPC2):c.165C>T (p.Tyr55=) SNV Uncertain significance 990179 14:74953057-74953057 14:74486354-74486354
42 NPC2 NM_006432.5(NPC2):c.58G>A (p.Glu20Lys) SNV Uncertain significance 990180 14:74959920-74959920 14:74493217-74493217
43 NPC2 NM_006432.5(NPC2):c.-1G>C SNV Uncertain significance 990181 14:74959978-74959978 14:74493275-74493275
44 NPC2 NM_006432.4(NPC2):c.442-1G>A SNV Uncertain significance 555990 rs1555345562 14:74946992-74946992 14:74480289-74480289
45 NPC2 NM_006432.4(NPC2):c.271G>A (p.Asp91Asn) SNV Uncertain significance 290576 rs148607507 14:74951210-74951210 14:74484507-74484507
46 NPC2 NC_000014.9:g.(?_74480254)_(74486456_?)del Deletion Uncertain significance 655239 14:74946957-74953159 14:74480254-74486456
47 NPC2 NM_006432.5(NPC2):c.57C>T (p.Ala19=) SNV Likely benign 783047 rs752818745 14:74959921-74959921 14:74493218-74493218
48 NPC2 NM_006432.4(NPC2):c.450T>C (p.His150=) SNV Likely benign 282548 rs374489111 14:74946983-74946983 14:74480280-74480280
49 NPC2 NM_006432.4(NPC2):c.363+7G>A SNV Benign 314238 rs200463204 14:74951111-74951111 14:74484408-74484408
50 ACYP1 NM_006432.4(NPC2):c.88G>A (p.Val30Met) SNV Benign 183281 rs151220873 14:74953134-74953134 14:74486431-74486431

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
Show member pathways
13.41 SMPD1 PSAP NPC2 NPC1 NAGA MT3
2 11.13 SMPD1 PSAP NPC2 NPC1 NAGA
3
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 9.43 SMPD1 PSAP
2 cholesterol efflux GO:0033344 9.4 NPC2 NPC1
3 low-density lipoprotein particle clearance GO:0034383 9.37 NPC2 NPC1
4 lipid transport GO:0006869 9.33 PSAP NPC2 NPC1
5 cholesterol transport GO:0030301 9.32 NPC2 NPC1
6 lysosomal transport GO:0007041 9.26 PSAP NPC1
7 intracellular cholesterol transport GO:0032367 8.96 NPC2 NPC1
8 cholesterol metabolic process GO:0008203 8.8 SMPD1 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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