NPC2
MCID: NMN014
MIFTS: 52

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 58 13 56 74
Niemann-Pick Disease Type C2 12 54 30 6 15 41
Npc2 58 12 54 76
Niemann-Pick C2 Disease 77
Niemann-Pick Disease C2 76

Characteristics:

OMIM:

58
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:

33
niemann-pick disease, type c2:
Inheritance heterogeneous autosomal recessive inheritance
Onset and clinical course onset


Classifications:



Summaries for Niemann-Pick Disease, Type C2

NIH Rare Diseases : 54 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 c1 and multiple mitochondrial dysfunctions syndrome, 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 Lipoprotein metabolism and Regulation by c-FLIP. The drugs Nimotuzumab and Antineoplastic Agents, Immunological have been mentioned in the context of this disorder. Affiliated tissues include eye, spleen and bone, and related phenotypes are intellectual disability and seizures

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

OMIM : 58 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 : 76 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 : 77 Niemann–Pick type C is a lysosomal storage disease associated with mutations in NPC1 and NPC2 genes.... 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 all 29)
# Related Disease Score Top Affiliating Genes
1 niemann-pick disease, type c1 33.0 NPC1 NPC1L1 NPC2 SMPD1
2 multiple mitochondrial dysfunctions syndrome 32.1 ISCA2 NPC2
3 multiple mitochondrial dysfunctions syndrome 4 32.1 ISCA2 NPC2
4 niemann-pick disease, type a 31.9 NPC1 NPC2 SMPD1
5 niemann-pick disease type c, severe perinatal form 31.9 NPC1 NPC2
6 niemann-pick disease type c, late infantile neurologic onset 31.9 NPC1 NPC2
7 niemann-pick disease type c, severe early infantile neurologic onset 31.9 NPC1 NPC2
8 niemann-pick disease type c, adult neurologic onset 31.9 NPC1 NPC2
9 niemann-pick disease type c, juvenile neurologic onset 31.9 NPC1 NPC2
10 niemann-pick disease, type b 31.8 NPC1 NPC2 SMPD1
11 sphingolipidosis 31.8 NPC1 NPC2 SMPD1
12 glycine n-methyltransferase deficiency 31.7 NPC1 NPC2
13 lipid storage disease 31.5 NPC1 NPC2 SMPD1
14 niemann-pick disease 30.4 ISCA2 NEGR1 NPC1 NPC1L1 NPC2 SMPD1
15 dementia 11.3
16 breast cancer 10.3
17 hepatocellular carcinoma 10.3
18 pulmonary alveolar proteinosis 10.3
19 cystic lymphangioma 10.3
20 acid sphingomyelinase deficiency 10.2 NPC1 SMPD1
21 anovulation 10.1
22 infertility 10.1
23 mucolipidosis ii alpha/beta 10.0 IGF2R SMPD1
24 irak4 deficiency 10.0 LY96 TLR4
25 myd88 deficiency 9.9 LY96 TLR4
26 parametritis 9.9 LY86 LY96
27 perinatal necrotizing enterocolitis 9.9 LY96 TLR4
28 interstitial emphysema 9.9 LY86 LY96
29 neurogenic bowel 9.8 LY86 LY96

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:

33 (show all 29)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 seizures 33 HP:0001250
3 ataxia 33 HP:0001251
4 muscular hypotonia 33 HP:0001252
5 spasticity 33 HP:0001257
6 dysarthria 33 HP:0001260
7 dysphagia 33 HP:0002015
8 respiratory insufficiency 33 HP:0002093
9 global developmental delay 33 HP:0001263
10 splenomegaly 33 HP:0001744
11 hepatomegaly 33 HP:0002240
12 stereotypy 33 HP:0000733
13 dystonia 33 HP:0001332
14 psychosis 33 HP:0000709
15 respiratory failure 33 HP:0002878
16 dementia 33 HP:0000726
17 prolonged neonatal jaundice 33 HP:0006579
18 generalized hypotonia 33 HP:0001290
19 neurofibrillary tangles 33 HP:0002185
20 vertical supranuclear gaze palsy 33 HP:0000511
21 loss of speech 33 HP:0002371
22 sea-blue histiocytosis 33 HP:0001982
23 bone-marrow foam cells 33 HP:0004333
24 perseveration 33 HP:0030223
25 cataplexy 33 HP:0002524
26 fetal ascites 33 HP:0001791
27 foam cells in visceral organs and cns 33 HP:0003640
28 abnormal circulating cholesterol concentration 33 HP:0003107
29 low cholesterol esterification rate 33 HP:0003349

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
spasticity
dysarthria
dystonia
dementia
more
Abdomen Spleen:
splenomegaly

Neurologic Behavioral Psychiatric Manifestations:
psychosis
behavioral problems
poor school performance
perseverative behavior

Head And Neck Eyes:
vertical supranuclear gaze palsy

Prenatal Manifestations:
fetal ascites

Abdomen Gastrointestinal:
dysphagia

Abdomen Liver:
hepatomegaly
neonatal jaundice

Respiratory Lung:
respiratory failure
pulmonary involvement, severe

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

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

Clinical features from OMIM:

607625

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


seizures, muscle spasticity, cerebellar ataxia

MGI Mouse Phenotypes related to Niemann-Pick Disease, Type C2:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.91 IGF2R LY86 LY96 MTOR NEGR1 NPC1
2 immune system MP:0005387 9.76 LY86 LY96 MTOR NEGR1 NPC1 NPC2
3 liver/biliary system MP:0005370 9.5 IGF2R NEGR1 NPC1 NPC1L1 NPC2 SMPD1
4 respiratory system MP:0005388 9.1 IGF2R MTOR NPC1 NPC2 SMPD1 TLR4

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 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nimotuzumab Investigational Phase 4 780758-10-3, 828933-61-3
2 Antineoplastic Agents, Immunological Phase 4
3
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
4
Glycine Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 56-40-6 750
5
Betadex Experimental Phase 1, Phase 2 7585-39-9 320761
6
Bilirubin Phase 1, Phase 2 635-65-4, 69853-43-6 21252250 5280352
7 Liver Extracts Phase 1, Phase 2
8 Histone Deacetylase Inhibitors Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase IV Clinical Trial of Nimotuzumab in the Treatment of Nasopharyngeal Carcinoma Unknown status NCT02293356 Phase 4 Nimotuzumab Injection
2 Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type C Active, not recruiting NCT02612129 Phase 2, Phase 3 arimoclomol;Placebo
3 Study of IV VTS-270 for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C Recruiting NCT03471143 Phase 1, Phase 2 2-Hydroxypropyl-Beta-Cyclodextrin
4 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
5 Biomarker for Niemann Pick Type C Disease (BioNPC) Recruiting NCT01306604
6 Screening of Niemann-Pick Disease, Type C in a Psychiatric Population Terminated NCT02841358 Not Applicable
7 A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C Completed NCT02435030

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 30 NPC2

Anatomical Context for Niemann-Pick Disease, Type C2

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

42
Eye, Spleen, Bone, Bone Marrow

Publications for Niemann-Pick Disease, Type C2

Articles related to Niemann-Pick Disease, Type C2:

(show all 12)
# Title Authors Year
1
The prognostic value of Niemann-Pick C1-like protein 1 and Niemann-Pick disease type C2 in hepatocellular carcinoma. ( 29483961 )
2018
2
First Prenatal Diagnosis of a Niemann-Pick Disease Type C2 Revealed by a Cystic Hygroma: A Case Report and Review of the Literature. ( 29928259 )
2018
3
Niemann-Pick disease type C2 protein induces autophagy and inhibits growth in FM3A breast cancer cells. ( 25843701 )
2015
4
A rare cause of fatal pulmonary alveolar proteinosis: Niemann-Pick disease type C2 and a novel mutation. ( 26024245 )
2015
5
Niemann-Pick disease type C2 protein induces triglyceride accumulation in silkworm and mammalian cell lines. ( 24438076 )
2014
6
Spermatozoa from mice deficient in Niemann-Pick disease type C2 (NPC2) protein have defective cholesterol content and reduced in vitro fertilising ability. ( 24709320 )
2014
7
Successful allogeneic bone marrow transplant for Niemann-Pick disease type C2 is likely to be associated with a severe 'graft versus substrate' effect. ( 20393800 )
2010
8
Niemann-Pick disease type C2 presenting as fatal pulmonary alveolar lipoproteinosis: morphological findings in lung and nervous tissue. ( 18668002 )
2008
9
Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2. ( 17470133 )
2007
10
Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2. ( 12447927 )
2002
11
Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. ( 11567215 )
2001
12
Identification of HE1 as the second gene of Niemann-Pick C disease. ( 11125141 )
2000

Variations for Niemann-Pick Disease, Type C2

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

76
# 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
5 NPC2 p.Cys93Phe VAR_043305 rs143960270
6 NPC2 p.Cys99Arg VAR_043306 rs80358264
7 NPC2 p.Pro120Ser VAR_043307 rs104894458

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

6 (show top 50) (show all 59)
# Gene Variation Type Significance SNP ID Assembly Location
1 NPC2 NM_006432.3(NPC2): c.58G> T (p.Glu20Ter) single nucleotide variant Pathogenic rs80358260 GRCh37 Chromosome 14, 74959920: 74959920
2 NPC2 NM_006432.3(NPC2): c.58G> T (p.Glu20Ter) single nucleotide variant Pathogenic rs80358260 GRCh38 Chromosome 14, 74493217: 74493217
3 NPC2 NPC2, 1-BP DEL, 111A deletion Pathogenic
4 NPC2 NM_006432.4(NPC2): c.190+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs80358268 GRCh37 Chromosome 14, 74953027: 74953027
5 NPC2 NM_006432.4(NPC2): c.190+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs80358268 GRCh38 Chromosome 14, 74486324: 74486324
6 NPC2 NM_006432.4(NPC2): c.352G> T (p.Glu118Ter) single nucleotide variant Pathogenic rs80358266 GRCh37 Chromosome 14, 74951129: 74951129
7 NPC2 NM_006432.4(NPC2): c.352G> T (p.Glu118Ter) single nucleotide variant Pathogenic rs80358266 GRCh38 Chromosome 14, 74484426: 74484426
8 NPC2 NM_006432.4(NPC2): c.199T> C (p.Ser67Pro) single nucleotide variant Pathogenic rs11694 GRCh37 Chromosome 14, 74951282: 74951282
9 NPC2 NM_006432.4(NPC2): c.199T> C (p.Ser67Pro) single nucleotide variant Pathogenic rs11694 GRCh38 Chromosome 14, 74484579: 74484579
10 NPC2 NM_006432.4(NPC2): c.115G> A (p.Val39Met) single nucleotide variant Pathogenic rs80358261 GRCh37 Chromosome 14, 74953107: 74953107
11 NPC2 NM_006432.4(NPC2): c.115G> A (p.Val39Met) single nucleotide variant Pathogenic rs80358261 GRCh38 Chromosome 14, 74486404: 74486404
12 NPC2 NM_006432.3(NPC2): c.436C> T (p.Gln146Ter) single nucleotide variant Likely pathogenic rs104894457 GRCh37 Chromosome 14, 74947410: 74947410
13 NPC2 NM_006432.3(NPC2): c.436C> T (p.Gln146Ter) single nucleotide variant Likely pathogenic rs104894457 GRCh38 Chromosome 14, 74480707: 74480707
14 NPC2 NM_006432.4(NPC2): c.358C> T (p.Pro120Ser) single nucleotide variant Pathogenic rs104894458 GRCh37 Chromosome 14, 74951123: 74951123
15 NPC2 NM_006432.4(NPC2): c.358C> T (p.Pro120Ser) single nucleotide variant Pathogenic rs104894458 GRCh38 Chromosome 14, 74484420: 74484420
16 NPC2 NM_006432.4(NPC2): c.133C> T (p.Gln45Ter) single nucleotide variant Pathogenic rs80358262 GRCh37 Chromosome 14, 74953089: 74953089
17 NPC2 NM_006432.4(NPC2): c.133C> T (p.Gln45Ter) single nucleotide variant Pathogenic rs80358262 GRCh38 Chromosome 14, 74486386: 74486386
18 NPC2 NM_006432.4(NPC2): c.141C> A (p.Cys47Ter) single nucleotide variant Pathogenic rs80358263 GRCh37 Chromosome 14, 74953081: 74953081
19 NPC2 NM_006432.4(NPC2): c.141C> A (p.Cys47Ter) single nucleotide variant Pathogenic rs80358263 GRCh38 Chromosome 14, 74486378: 74486378
20 NPC2 NM_006432.3(NPC2): c.27delG (p.Leu10Serfs) deletion Pathogenic rs80358267 GRCh37 Chromosome 14, 74959951: 74959951
21 NPC2 NM_006432.3(NPC2): c.27delG (p.Leu10Serfs) deletion Pathogenic rs80358267 GRCh38 Chromosome 14, 74493248: 74493248
22 NPC2 NM_006432.4(NPC2): c.295T> C (p.Cys99Arg) single nucleotide variant Pathogenic rs80358264 GRCh37 Chromosome 14, 74951186: 74951186
23 NPC2 NM_006432.4(NPC2): c.295T> C (p.Cys99Arg) single nucleotide variant Pathogenic rs80358264 GRCh38 Chromosome 14, 74484483: 74484483
24 NPC2 NM_006432.3(NPC2): c.332delA (p.Asn111Ilefs) deletion Uncertain significance rs80358265 GRCh37 Chromosome 14, 74951149: 74951149
25 NPC2 NM_006432.3(NPC2): c.332delA (p.Asn111Ilefs) deletion Uncertain significance rs80358265 GRCh38 Chromosome 14, 74484446: 74484446
26 NPC2 NM_006432.4(NPC2): c.441+1G> A single nucleotide variant Uncertain significance rs140130028 GRCh37 Chromosome 14, 74947404: 74947404
27 NPC2 NM_006432.4(NPC2): c.441+1G> A single nucleotide variant Uncertain significance rs140130028 GRCh38 Chromosome 14, 74480701: 74480701
28 NPC2 NM_006432.3(NPC2): c.3G> C (p.Met1Ile) single nucleotide variant Pathogenic rs483352893 GRCh37 Chromosome 14, 74959975: 74959975
29 NPC2 NM_006432.3(NPC2): c.3G> C (p.Met1Ile) single nucleotide variant Pathogenic rs483352893 GRCh38 Chromosome 14, 74493272: 74493272
30 NPC2 NM_006432.3(NPC2): c.442-4A> C single nucleotide variant Benign/Likely benign rs114950106 GRCh37 Chromosome 14, 74946995: 74946995
31 NPC2 NM_006432.3(NPC2): c.442-4A> C single nucleotide variant Benign/Likely benign rs114950106 GRCh38 Chromosome 14, 74480292: 74480292
32 NPC2 NM_006432.3(NPC2): c.82+2T> C single nucleotide variant Pathogenic rs879253740 GRCh38 Chromosome 14, 74493191: 74493191
33 NPC2 NM_006432.3(NPC2): c.82+2T> C single nucleotide variant Pathogenic rs879253740 GRCh37 Chromosome 14, 74959894: 74959894
34 NPC2 NM_006432.4(NPC2): c.271G> A (p.Asp91Asn) single nucleotide variant Uncertain significance rs148607507 GRCh37 Chromosome 14, 74951210: 74951210
35 NPC2 NM_006432.4(NPC2): c.271G> A (p.Asp91Asn) single nucleotide variant Uncertain significance rs148607507 GRCh38 Chromosome 14, 74484507: 74484507
36 NPC2 NM_006432.4(NPC2): c.363+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200463204 GRCh38 Chromosome 14, 74484408: 74484408
37 NPC2 NM_006432.4(NPC2): c.363+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200463204 GRCh37 Chromosome 14, 74951111: 74951111
38 NPC2 NM_006432.4(NPC2): c.292A> C (p.Asn98His) single nucleotide variant Uncertain significance rs142858704 GRCh37 Chromosome 14, 74951189: 74951189
39 NPC2 NM_006432.4(NPC2): c.292A> C (p.Asn98His) single nucleotide variant Uncertain significance rs142858704 GRCh38 Chromosome 14, 74484486: 74484486
40 NPC2 NM_006432.4(NPC2): c.442-1G> A single nucleotide variant Uncertain significance rs1555345562 GRCh37 Chromosome 14, 74946992: 74946992
41 NPC2 NM_006432.4(NPC2): c.442-1G> A single nucleotide variant Uncertain significance rs1555345562 GRCh38 Chromosome 14, 74480289: 74480289
42 NPC2 NM_006432.4(NPC2): c.422G> A (p.Trp141Ter) single nucleotide variant Likely pathogenic rs1555345616 GRCh37 Chromosome 14, 74947424: 74947424
43 NPC2 NM_006432.4(NPC2): c.422G> A (p.Trp141Ter) single nucleotide variant Likely pathogenic rs1555345616 GRCh38 Chromosome 14, 74480721: 74480721
44 NPC2 NM_006432.4(NPC2): c.140G> T (p.Cys47Phe) single nucleotide variant Uncertain significance rs1555345993 GRCh37 Chromosome 14, 74953082: 74953082
45 NPC2 NM_006432.4(NPC2): c.140G> T (p.Cys47Phe) single nucleotide variant Uncertain significance rs1555345993 GRCh38 Chromosome 14, 74486379: 74486379
46 NPC2 NM_006432.4(NPC2): c.2T> C (p.Met1Thr) single nucleotide variant Likely pathogenic rs1555346368 GRCh37 Chromosome 14, 74959976: 74959976
47 NPC2 NM_006432.4(NPC2): c.2T> C (p.Met1Thr) single nucleotide variant Likely pathogenic rs1555346368 GRCh38 Chromosome 14, 74493273: 74493273
48 NPC2 NM_006432.4(NPC2): c.420_422del (p.Cys140del) deletion Uncertain significance rs781255433 GRCh37 Chromosome 14, 74947423: 74947426
49 NPC2 NM_006432.4(NPC2): c.420_422del (p.Cys140del) deletion Uncertain significance rs781255433 GRCh38 Chromosome 14, 74480721: 74480723
50 NPC2 NM_006432.4(NPC2): c.364-2A> G single nucleotide variant Likely pathogenic rs777654308 GRCh37 Chromosome 14, 74947484: 74947484

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

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 plasma membrane GO:0005886 9.76 IGF2R LY96 MT3 NEGR1 NPC1 NPC1L1
2 extracellular space GO:0005615 9.73 IGF2R LY86 LY96 MT3 NPC2 SMPD1
3 endosome GO:0005768 9.67 IGF2R NPC1 SMPD1 TLR4
4 intrinsic component of plasma membrane GO:0031226 9.32 LY96 TLR4
5 lysosome GO:0005764 9.02 IGF2R MTOR NPC1 NPC2 SMPD1
6 lipopolysaccharide receptor complex GO:0046696 8.96 LY96 TLR4

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 lipid transport GO:0006869 9.72 NPC1 NPC1L1 NPC2
2 steroid metabolic process GO:0008202 9.69 NPC1 NPC1L1 NPC2
3 positive regulation of nitric oxide biosynthetic process GO:0045429 9.62 MTOR TLR4
4 response to cocaine GO:0042220 9.62 MTOR SMPD1
5 toll-like receptor signaling pathway GO:0002224 9.61 LY96 TLR4
6 lipopolysaccharide-mediated signaling pathway GO:0031663 9.61 LY96 TLR4
7 activation of protein kinase B activity GO:0032148 9.6 MT3 MTOR
8 MyD88-dependent toll-like receptor signaling pathway GO:0002755 9.59 LY96 TLR4
9 cholesterol efflux GO:0033344 9.58 NPC1 NPC2
10 low-density lipoprotein particle clearance GO:0034383 9.58 NPC1 NPC2
11 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.57 LY96 TLR4
12 necroptotic process GO:0070266 9.56 LY96 TLR4
13 astrocyte development GO:0014002 9.54 MT3 TLR4
14 cholesterol metabolic process GO:0008203 9.54 NPC1 NPC1L1 NPC2
15 toll-like receptor 4 signaling pathway GO:0034142 9.52 LY96 TLR4
16 energy reserve metabolic process GO:0006112 9.49 MT3 MTOR
17 negative regulation of macroautophagy GO:0016242 9.48 MTOR NPC1
18 lysosomal transport GO:0007041 9.46 IGF2R NPC1
19 MyD88-independent toll-like receptor signaling pathway GO:0002756 9.43 LY96 TLR4
20 intracellular cholesterol transport GO:0032367 9.4 NPC1 NPC2
21 positive regulation of lipopolysaccharide-mediated signaling pathway GO:0031666 9.32 LY86 LY96
22 negative regulation of MyD88-independent toll-like receptor signaling pathway GO:0034128 9.26 LY96 TLR4
23 detection of lipopolysaccharide GO:0032497 9.16 LY96 TLR4
24 regulation of response to food GO:0032095 8.96 MT3 MTOR
25 cholesterol transport GO:0030301 8.8 NPC1 NPC1L1 NPC2

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.73 IGF2R ISCA2 LY86 LY96 MT3 MTOR
2 signaling receptor activity GO:0038023 9.5 IGF2R NPC1 TLR4
3 cholesterol binding GO:0015485 9.37 NPC1 NPC2
4 phosphoprotein binding GO:0051219 9.26 IGF2R MTOR
5 lipopolysaccharide binding GO:0001530 9.16 LY96 TLR4
6 lipopolysaccharide receptor activity GO:0001875 8.62 LY96 TLR4

Sources for Niemann-Pick Disease, Type C2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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