MCID: NMN015
MIFTS: 51

Niemann-Pick Disease, Type C1 malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Respiratory diseases, Metabolic diseases categories

Summaries for Niemann-Pick Disease, Type C1

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OMIM:45 Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive... (257220) more...

MalaCards based summary: Niemann-Pick Disease, Type C1, also known as niemann-pick disease type c1, is related to niemann-pick disease and pick disease, and has symptoms including autosomal recessive inheritance, vertical supranuclear gaze palsy and psychosis. An important gene associated with Niemann-Pick Disease, Type C1 is NPC1 (Niemann-Pick disease, type C1). The compounds sterol and lipid have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and liver, and related mouse phenotypes are endocrine/exocrine gland and liver/biliary system.

Aliases & Classifications for Niemann-Pick Disease, Type C1

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Niemann-Pick Disease, Type C1, Aliases & Descriptions:

Name: Niemann-Pick Disease, Type C1 45 10 60
Niemann-Pick Disease Type C1 30 41 20 22
Niemann-Pick Disease, Type C 41 20 60
Niemann-Pick Disease, Type D 45 60
Niemann-Picks Disease Type C 43 22
Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia 41
Niemann-Pick Disease with Cholesterol Esterification Block 41
Niemann-Pick Disease Without Sphingomyelinase Deficiency 41
 
Niemann-Pick Disease, Chronic Neuronopathic Form 41
Niemann-Pick Disease, Subacute Juvenile Form 41
Nova Scotia Form of Niemann-Pick Disease 41
Niemann-Pick Disease, Nova Scotian Type 41
Nova Scotia Niemann-Pick Disease 41
Niemann-Pick Disease Type C 41
Niemann-Pick Disease Type D 41
Npc1 41


Classifications:



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OMIM45 257220

Related Diseases for Niemann-Pick Disease, Type C1

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Graphical network of the top 20 diseases related to Niemann-Pick Disease, Type C1:



Diseases related to niemann-pick disease, type c1

Symptoms for Niemann-Pick Disease, Type C1

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Symptoms by clinical synopsis from OMIM:

257220

Clinical features from OMIM:

257220

HPO human phenotypes related to Niemann-Pick Disease, Type C1:

(show all 29)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 vertical supranuclear gaze palsy HP:0000511
3 psychosis HP:0000709
4 dementia HP:0000726
5 intellectual disability HP:0001249
6 seizures HP:0001250
7 ataxia HP:0001251
8 muscular hypotonia HP:0001252
9 spasticity HP:0001257
10 dysarthria HP:0001260
11 global developmental delay HP:0001263
12 dystonia HP:0001332
13 splenomegaly HP:0001744
14 fetal ascites HP:0001791
15 sea-blue histiocytosis HP:0001982
16 dysphagia HP:0002015
17 neurofibrillary tangles HP:0002185
18 hepatomegaly HP:0002240
19 loss of speech HP:0002371
20 cataplexy HP:0002524
21 neuronal loss in central nervous system HP:0002529
22 low cholesterol esterification rates HP:0003349
23 abnormal cholesterol homeostasis HP:0003464
24 foam cells in visceral organs and cns HP:0003640
25 onset HP:0003674
26 phenotypic variability HP:0003812
27 bone-marrow foam cells HP:0004333
28 prolonged neonatal jaundice HP:0006579
29 fatal liver failure in infancy HP:0006583

Drugs & Therapeutics for Niemann-Pick Disease, Type C1

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Drug clinical trials:

Search ClinicalTrials for Niemann-Pick Disease, Type C1

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

Genetic Tests for Niemann-Pick Disease, Type C1

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

id Genetic test Affiliating Genes
1 Niemann-Pick Disease Type C20
2 Niemann-Pick Disease Type C120 22 NPC1
3 Niemann-Pick Disease, Type C22

Anatomical Context for Niemann-Pick Disease, Type C1

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MalaCards organs/tissues related to Niemann-Pick Disease, Type C1:

31
Bone marrow, Bone, Liver, Cerebellum, Adipocyte, Lung, Olfactory bulb

Animal Models for Niemann-Pick Disease, Type C1 or affiliated genes

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

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053799.1NPC1L1, NPC1
2MP:00053708.8NPC1L1, NPC1

Publications for Niemann-Pick Disease, Type C1

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Articles related to Niemann-Pick Disease, Type C1:

(show all 22)
idTitleAuthorsYear
1
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. (25764212)
2015
2
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
3
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
4
Improved neuroprotection using miglustat, curcumin and ibuprofen as a triple combination therapy in Niemann-Pick disease type C1 mice. (24631719)
2014
5
Auditory phenotype of niemann-pick disease, type c1. (24225652)
2014
6
Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1. (23653225)
2014
7
The role of the niemann-pick disease, type c1 protein in adipocyte insulin action. (24752197)
2014
8
Niemann-Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: An autopsy case. (23711246)
2014
9
Corpus Callosum Diffusion Tensor Imaging and Volume Measures Are Associated With Disease Severity in Pediatric Niemann-Pick Disease Type C1. (25194719)
2014
10
Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1. (24235134)
2014
11
Altered transition metal homeostasis in Niemann-Pick disease, type C1. (24343124)
2013
12
NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish. (23010472)
2013
13
Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1. (23666527)
2013
14
Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight. (23144710)
2012
15
Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1. (22619379)
2012
16
Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1. (23023945)
2012
17
Morphological alterations of the cornea in the mouse model of niemann-pick disease type c1. (21317782)
2011
18
Niemann-Pick disease type C1 presenting with psychosis in an adolescent male. (19267177)
2009
19
Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1. (19632328)
2009
20
Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. (18953351)
2008
21
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
22
Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage. (16086131)
2005

Variations for Niemann-Pick Disease, Type C1

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

62 (show all 151)
id Symbol AA change Variation ID SNP ID
1NPC1p.Cys177GlyVAR_008815
2NPC1p.Pro237SerVAR_008817rs80358251
3NPC1p.Ser473ProVAR_008820
4NPC1p.His510ProVAR_008821
5NPC1p.Arg518GlnVAR_008822
6NPC1p.Val889MetVAR_008826
7NPC1p.Gln928ProVAR_008827rs28940897
8NPC1p.Arg934GlnVAR_008828
9NPC1p.Ser940LeuVAR_008829
10NPC1p.Asp948AsnVAR_008830
11NPC1p.Ser954LeuVAR_008831
12NPC1p.Cys956TyrVAR_008832
13NPC1p.Gly992TrpVAR_008833
14NPC1p.Pro1007AlaVAR_008834
15NPC1p.Thr1036MetVAR_008835rs28942104
16NPC1p.Ile1061ThrVAR_008836
17NPC1p.Tyr1088CysVAR_008837rs28942106
18NPC1p.Asn1156SerVAR_008838rs28942105
19NPC1p.Phe1167LeuVAR_008839
20NPC1p.Arg1186HisVAR_008840rs200444084
21NPC1p.Leu1213PheVAR_008841
22NPC1p.Leu1213ValVAR_008842
23NPC1p.Cys177TyrVAR_015561
24NPC1p.Val378AlaVAR_015562
25NPC1p.Val950MetVAR_015563
26NPC1p.Arg958GlnVAR_015564
27NPC1p.Arg978CysVAR_015565rs28942108
28NPC1p.Gly992ArgVAR_015566
29NPC1p.Ala1035ValVAR_015567rs28942107
30NPC1p.Cys63ArgVAR_043172
31NPC1p.Cys74TyrVAR_043173
32NPC1p.Gln92ArgVAR_043174
33NPC1p.Cys113ArgVAR_043175
34NPC1p.Thr137MetVAR_043176
35NPC1p.Pro166SerVAR_043178
36NPC1p.Asn222SerVAR_043179rs55680026
37NPC1p.Val231GlyVAR_043180
38NPC1p.Asp242HisVAR_043181
39NPC1p.Asp242AsnVAR_043182
40NPC1p.Cys247TyrVAR_043183
41NPC1p.Gly248ValVAR_043184
42NPC1p.Met272ArgVAR_043185
43NPC1p.Arg372TrpVAR_043187
44NPC1p.Leu380PheVAR_043188
45NPC1p.Ala388ProVAR_043190
46NPC1p.Arg389CysVAR_043191
47NPC1p.Pro401ThrVAR_043192
48NPC1p.Arg404ProVAR_043193
49NPC1p.Arg404GlnVAR_043194
50NPC1p.Arg404TrpVAR_043195
51NPC1p.Pro433LeuVAR_043196
52NPC1p.Pro434LeuVAR_043197
53NPC1p.Glu451LysVAR_043199
54NPC1p.Pro474LeuVAR_043200
55NPC1p.Cys479TyrVAR_043201
56NPC1p.Tyr509SerVAR_043202
57NPC1p.His512ArgVAR_043204
58NPC1p.Arg518TrpVAR_043205
59NPC1p.Ala521SerVAR_043206
60NPC1p.Phe537LeuVAR_043207
61NPC1p.Pro543LeuVAR_043208
62NPC1p.Thr574LysVAR_043209
63NPC1p.Lys576ArgVAR_043210
64NPC1p.Ala605ValVAR_043211
65NPC1p.Glu612AspVAR_043212
66NPC1p.Arg615CysVAR_043213
67NPC1p.Arg615LeuVAR_043214
68NPC1p.Met631ArgVAR_043215
69NPC1p.Gly640ArgVAR_043216
70NPC1p.Ser652TrpVAR_043217
71NPC1p.Gly660SerVAR_043218
72NPC1p.Val664MetVAR_043219
73NPC1p.Ser666AsnVAR_043220
74NPC1p.Cys670TrpVAR_043221
75NPC1p.Gly673ValVAR_043222
76NPC1p.Leu684PheVAR_043223
77NPC1p.Pro691LeuVAR_043224
78NPC1p.Leu695ValVAR_043225
79NPC1p.Asp700AsnVAR_043226
80NPC1p.Phe703SerVAR_043227
81NPC1p.Leu724ProVAR_043228
82NPC1p.Val727PheVAR_043229
83NPC1p.Ser734IleVAR_043230
84NPC1p.Glu742LysVAR_043231
85NPC1p.Ala745GluVAR_043232
86NPC1p.Met754LysVAR_043233
87NPC1p.Phe763LeuVAR_043234
88NPC1p.Ala767ValVAR_043235
89NPC1p.Gln775ProVAR_043236
90NPC1p.Arg789CysVAR_043237
91NPC1p.Arg789GlyVAR_043238
92NPC1p.Tyr825CysVAR_043239
93NPC1p.Ser849IleVAR_043240
94NPC1p.Gln862LeuVAR_043241
95NPC1p.Ser865LeuVAR_043242
96NPC1p.Tyr871CysVAR_043243
97NPC1p.Asp874ValVAR_043245
98NPC1p.Pro888SerVAR_043246
99NPC1p.Tyr890CysVAR_043247
100NPC1p.Tyr899AspVAR_043248
101NPC1p.Gly910SerVAR_043249
102NPC1p.Asp917TyrVAR_043250
103NPC1p.Ala926ThrVAR_043251
104NPC1p.Ala927ValVAR_043252
105NPC1p.Leu929ProVAR_043253
106NPC1p.Trp942CysVAR_043254
107NPC1p.Ile943MetVAR_043255
108NPC1p.Asp944AsnVAR_043256
109NPC1p.Asp945AsnVAR_043257
110NPC1p.Asp948HisVAR_043258
111NPC1p.Asp948TyrVAR_043259
112NPC1p.Arg958LeuVAR_043260
113NPC1p.Val959GluVAR_043261
114NPC1p.Asn961SerVAR_043263rs34084984
115NPC1p.Asn968SerVAR_043264
116NPC1p.Cys976ArgVAR_043266
117NPC1p.Gly986SerVAR_043267
118NPC1p.Gly992AlaVAR_043268
119NPC1p.Met996ArgVAR_043269
120NPC1p.Ser1004LeuVAR_043270
121NPC1p.Gly1012AspVAR_043271
122NPC1p.Gly1015ValVAR_043272
123NPC1p.His1016ArgVAR_043273
124NPC1p.Val1023GlyVAR_043274
125NPC1p.Gly1034ArgVAR_043275
126NPC1p.Thr1036LysVAR_043276
127NPC1p.Ala1054ThrVAR_043278
128NPC1p.Arg1059GlnVAR_043279
129NPC1p.Ala1062ValVAR_043280
130NPC1p.Thr1066AsnVAR_043281
131NPC1p.Phe1087LeuVAR_043282
132NPC1p.Glu1089LysVAR_043283
133NPC1p.Ile1094ThrVAR_043284
134NPC1p.Asp1097AsnVAR_043285
135NPC1p.Asn1137IleVAR_043286
136NPC1p.Gly1140ValVAR_043287
137NPC1p.Met1142ThrVAR_043288
138NPC1p.Asn1150LysVAR_043289
139NPC1p.Asn1156IleVAR_043290rs28942105
140NPC1p.Val1165MetVAR_043291
141NPC1p.Cys1168TyrVAR_043292
142NPC1p.Ala1174ValVAR_043293
143NPC1p.Glu1189GlyVAR_043294
144NPC1p.Thr1205LysVAR_043295
145NPC1p.Thr1205ArgVAR_043296
146NPC1p.Val1212LeuVAR_043297
147NPC1p.Ala1216ValVAR_043298
148NPC1p.Phe1224LeuVAR_043299
149NPC1p.Gly1236GluVAR_043300
150NPC1p.Gly1240ArgVAR_043301
151NPC1p.Ser1249GlyVAR_043302

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

6 (show all 36)
id Gene Variation Type Significance SNP ID Assembly Location
1NPC1NM_000271.4(NPC1): c.1030delT (p.Ser344Leufs)deletionPathogenicrs483352883GRCh38Chr 18, 23556539: 23556539
2NPC1NM_000271.4(NPC1): c.1502A> T (p.Asp501Val)single nucleotide variantPathogenicrs483352885GRCh38Chr 18, 23554809: 23554809
3NPC1NM_000271.4(NPC1): c.1553G> A (p.Arg518Gln)single nucleotide variantPathogenicrs483352886GRCh38Chr 18, 23554758: 23554758
4NPC1NM_000271.4(NPC1): c.1800delC (p.Ile601Phefs)deletionPathogenicrs483352879GRCh38Chr 18, 23545107: 23545107
5NPC1NM_000271.4(NPC1): c.1832A> G (p.Asp611Gly)single nucleotide variantPathogenicrs483352887GRCh38Chr 18, 23545075: 23545075
6NPC1NM_000271.4(NPC1): c.2054T> C (p.Ile685Thr)single nucleotide variantPathogenicrs483352888GRCh38Chr 18, 23544420: 23544420
7NPC1NM_000271.4(NPC1): c.2128C> T (p.Gln710Ter)single nucleotide variantPathogenicrs483352889GRCh38Chr 18, 23544346: 23544346
8NPC1NM_000271.4(NPC1): c.2177G> C (p.Arg726Thr)single nucleotide variantPathogenicrs483352890GRCh38Chr 18, 23543523: 23543523
9NPC1NM_000271.4(NPC1): c.2230_2231delGT (p.Val744Serfs)deletionPathogenicrs483352882GRCh38Chr 18, 23543469: 23543470
10NPC1NM_000271.4(NPC1): c.2302dupG (p.Val768Glyfs)duplicationPathogenicrs483352881GRCh38Chr 18, 23541377: 23541377
11NPC1NM_000271.4(NPC1): c.2366G> A (p.Arg789His)single nucleotide variantPathogenicrs483352891GRCh38Chr 18, 23541313: 23541313
12NPC1NM_000271.4(NPC1): c.2795dupA (p.Tyr932Terfs)duplicationPathogenicrs483352884GRCh38Chr 18, 23539811: 23539811
13NPC1NM_000271.4(NPC1): c.2912-3C> Gsingle nucleotide variantPathogenicrs483352892GRCh38Chr 18, 23538674: 23538674
14NPC1NM_000271.4(NPC1): c.416dupC (p.Asn140Lysfs)duplicationPathogenicrs483352880GRCh38Chr 18, 23568870: 23568870
15NPC1NM_000271.4(NPC1): c.2324A> C (p.Gln775Pro)single nucleotide variantPathogenicrs80358253GRCh37Chr 18, 21121319: 21121319
16NPC1NM_000271.4(NPC1): c.2974G> A (p.Gly992Arg)single nucleotide variantPathogenicrs80358254GRCh37Chr 18, 21118573: 21118573
17NPC1NM_000271.4(NPC1): c.3160G> A (p.Ala1054Thr)single nucleotide variantPathogenicrs80358258GRCh37Chr 18, 21116722: 21116722
18NPC1NM_000271.4(NPC1): c.2783A> C (p.Gln928Pro)single nucleotide variantPathogenicrs28940897GRCh37Chr 18, 21119787: 21119787
19NPC1NM_000271.4(NPC1): c.3107C> T (p.Thr1036Met)single nucleotide variantPathogenicrs28942104GRCh37Chr 18, 21116775: 21116775
20NPC1NM_000271.4(NPC1): c.3467A> G (p.Asn1156Ser)single nucleotide variantPathogenicrs28942105GRCh37Chr 18, 21115443: 21115443
21NPC1NM_000271.4(NPC1): c.2974G> T (p.Gly992Trp)single nucleotide variantPathogenicrs80358254GRCh37Chr 18, 21118573: 21118573
22NPC1NPC1, 1553G-Asingle nucleotide variantPathogenic
23NPC1NM_000271.4(NPC1): c.3019C> G (p.Pro1007Ala)single nucleotide variantPathogenicrs80358257GRCh37Chr 18, 21118528: 21118528
24NPC1NM_000271.4(NPC1): c.3182T> C (p.Ile1061Thr)single nucleotide variantPathogenicrs80358259GRCh37Chr 18, 21116700: 21116700
25NPC1NM_000271.4(NPC1): c.2873G> A (p.Arg958Gln)single nucleotide variantPathogenicrs120074132GRCh37Chr 18, 21119357: 21119357
26NPC1NM_000271.4(NPC1): c.2974G> C (p.Gly992Arg)single nucleotide variantPathogenicrs80358254GRCh37Chr 18, 21118573: 21118573
27NPC1NM_000271.4(NPC1): c.1133T> C (p.Val378Ala)single nucleotide variantPathogenicrs120074134GRCh37Chr 18, 21136400: 21136400
28NPC1NM_000271.4(NPC1): c.2848G> A (p.Val950Met)single nucleotide variantPathogenicrs120074135GRCh37Chr 18, 21119382: 21119382
29NPC1NM_000271.4(NPC1): c.3104C> T (p.Ala1035Val)single nucleotide variantPathogenicrs28942107GRCh37Chr 18, 21116778: 21116778
30NPC1NPC1, IVS23, G-A, +1single nucleotide variantPathogenic
31NPC1NM_000271.4(NPC1): c.530G> A (p.Cys177Tyr)single nucleotide variantPathogenicrs80358252GRCh37Chr 18, 21141425: 21141425
32NPC1NPC1, IVS16, G-A, -82single nucleotide variantPathogenic
33NPC1NM_000271.4(NPC1): c.2932C> T (p.Arg978Cys)single nucleotide variantPathogenicrs28942108GRCh37Chr 18, 21118615: 21118615
34NPC1NPC1, 1-BP DEL, 3662TdeletionPathogenic
35NPC1NM_000271.4(NPC1): c.337T> C (p.Cys113Arg)single nucleotide variantPathogenicrs120074136GRCh37Chr 18, 21148913: 21148913
36NPC1NPC1, 4-BP DEL, 3611-3614deletionPathogenic

Expression for genes affiliated with Niemann-Pick Disease, Type C1

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Search GEO for disease gene expression data for Niemann-Pick Disease, Type C1.

Pathways for genes affiliated with Niemann-Pick Disease, Type C1

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Compounds for genes affiliated with Niemann-Pick Disease, Type C1

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Sources:
43Novoseek, 28IUPHAR, 24HMDB, 12DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1sterol439.1NPC1L1, NPC1
2lipid439.1NPC1L1, NPC1
3cholesterol43 28 24 1212.0NPC1L1, NPC1
4atp43 289.8NPC1L1, NPC1

GO Terms for genes affiliated with Niemann-Pick Disease, Type C1

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

idNameGO IDScoreTop Affiliating Genes
1response to drugGO:00424939.1NPC1L1, NPC1
2cholesterol transportGO:00303018.8NPC1L1, NPC1

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

idNameGO IDScoreTop Affiliating Genes
1hedgehog receptor activityGO:00081589.1NPC1L1, NPC1

Products for genes affiliated with Niemann-Pick Disease, Type C1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Niemann-Pick Disease, Type C1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet