NPC1
MCID: NMN004
MIFTS: 67

Niemann-Pick Disease Type C1 (NPC1) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Respiratory diseases, Metabolic diseases, Immune diseases categories
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Summaries for Niemann-Pick Disease Type C1

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MalaCards based summary: Niemann-Pick Disease Type C1, also known as niemann-pick disease, type c1, is related to niemann-pick disease and acid sphingomyelinase deficiency, and has symptoms including hepatitis/icterus/cholestasis, hepatomegaly/liver enlargement (excluding storage disease) and abnormal gait. An important gene associated with Niemann-Pick Disease Type C1 is NPC1 (Niemann-Pick disease, type C1), and among its related pathways are Cholesterol and Sphingolipids transport Distribution to the intracellular membrane compartments normal and CF and Lysosome. The compounds SM(d18:1/12:0) and SM(d18:1/14:0) have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and cerebellum, and related mouse phenotypes are liver/biliary system and behavior/neurological.

Descriptions from OMIM:46 257220,607625

Aliases & Classifications for Niemann-Pick Disease Type C1

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Sources:
30LifeMap Discovery®, 42NIH Rare Diseases, 62UMLS, 48Orphanet, 9diseasecard, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 63UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Niemann-Pick Disease Type C1, Aliases & Descriptions:

Name: Niemann-Pick Disease Type C1 30 42
Niemann-Pick Disease, Type C1 9 20 22 46
Niemann-Pick Disease, Type C 42 20 22 62
Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia 42 62
Niemann-Pick Disease with Cholesterol Esterification Block 42 62
Npc1 42 62
 
Niemann-Pick Disease, Chronic Neuronopathic Form 42
Niemann-Pick Disease, Subacute Juvenile Form 42
Niemann-Pick's Disease Type C 62
Niemann-Pick Disease, Type a 62
Niemann-Picks Disease Type C 44
Niemann-Pick Disease Type C 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
niemann-pick disease type c:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Variable


External Ids:

UMLS via Orphanet63 C0220756
MESH via Orphanet35 D052556
ICD10 via Orphanet26 E75.2

Related Diseases for Niemann-Pick Disease Type C1

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Diseases in the Niemann-Pick Disease family:

niemann-pick disease type c1 Niemann-Pick Disease Type C2
Niemann-Pick Disease Type D

Diseases related to Niemann-Pick Disease Type C1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1niemann-pick disease31.1NPC1, NPC2, SMPD1
2acid sphingomyelinase deficiency30.7SMPD1
3lysosomal storage disease30.4NPC1, SMPD1
4dementia30.1NPC1, NPC2
5niemann-pick disease type c, juvenile neurologic onset10.6
6hepatitis10.5
7liver disease10.5
8cerebritis10.5
9splenomegaly10.5
10dysphagia10.5
11myoclonus10.5
12niemann-pick disease type c, severe perinatal form10.5
13niemann-pick disease type c, late infantile neurologic onset10.5
14niemann-pick disease type c, severe early infantile neurologic onset10.5
15niemann-pick disease type c, adult neurologic onset10.5
16pick's disease10.5
17neuronitis10.4
18neurologic diseases10.4
19alzheimer's disease10.4
20bipolar disorder10.4
21brain injury10.4
22crohn's disease10.4
23cystic fibrosis10.4
24glomerulonephritis10.4
25hepatocellular carcinoma10.4
26multiple sclerosis10.4
27schizophrenia10.4
28membranoproliferative glomerulonephritis10.4
29neuroaxonal dystrophy10.4
30gaucher's disease10.4
31progressive supranuclear palsy10.4
32cholestasis10.4
33sphingolipidosis10.4
34myoclonus epilepsy10.4
35niemann-pick disease type d10.4
36tremor10.4
37tangier disease10.3
38sandhoff disease10.1
39mucolipidosis ii10.1
40atherosclerosis10.0
41niemann-pick disease type c210.0
42nasopharyngeal carcinoma 110.0
43insulin resistance10.0
44metabolic syndrome x10.0SMPD1, NPC1

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:

257220,607625

Symptoms:

48 (show all 20)
  • hepatitis/icterus/cholestasis
  • hepatomegaly/liver enlargement (excluding storage disease)
  • abnormal gait
  • ataxia/incoordination/trouble of the equilibrium
  • dystonia/torticollis/writer's cramp/blepharospasms
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • psychic/psychomotor regression/dementia/intellectual decline
  • autosomal recessive inheritance
  • absent/hypotonic/flaccid abdominal wall muscles
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • splenomegaly
  • motor deficit/trouble
  • sleep and vigilance disorders
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • psychic/behavioural troubles
  • ascitis
  • tremor
  • chorea/athetosis/choreoathetosis/choreic syndrome
  • pyramidal syndrome
  • seizures/epilepsy/absences/spasms/status epilepticus

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

(show all 44)
id Description Frequency HPO Source Accession
1 gait disturbance hallmark (90%) HP:0001288
2 hepatomegaly hallmark (90%) HP:0002240
3 incoordination hallmark (90%) HP:0002311
4 developmental regression hallmark (90%) HP:0002376
5 cognitive impairment hallmark (90%) HP:0100543
6 splenomegaly typical (50%) HP:0001744
7 neurological speech impairment typical (50%) HP:0002167
8 sleep disturbance typical (50%) HP:0002360
9 feeding difficulties in infancy typical (50%) HP:0008872
10 aplasia/hypoplasia of the abdominal wall musculature typical (50%) HP:0010318
11 seizures occasional (7.5%) HP:0001250
12 tremor occasional (7.5%) HP:0001337
13 ascites occasional (7.5%) HP:0001541
14 chorea occasional (7.5%) HP:0002072
15 abnormality of pyramidal motor function occasional (7.5%) HP:0007256
16 autosomal recessive inheritance HP:0000007
17 vertical supranuclear gaze palsy HP:0000511
18 psychosis HP:0000709
19 dementia HP:0000726
20 intellectual disability HP:0001249
21 seizures HP:0001250
22 ataxia HP:0001251
23 muscular hypotonia HP:0001252
24 spasticity HP:0001257
25 dysarthria HP:0001260
26 global developmental delay HP:0001263
27 dystonia HP:0001332
28 splenomegaly HP:0001744
29 fetal ascites HP:0001791
30 sea-blue histiocytosis HP:0001982
31 dysphagia HP:0002015
32 neurofibrillary tangles HP:0002185
33 hepatomegaly HP:0002240
34 loss of speech HP:0002371
35 cataplexy HP:0002524
36 neuronal loss in central nervous system HP:0002529
37 low cholesterol esterification rates HP:0003349
38 abnormal cholesterol homeostasis HP:0003464
39 foam cells in visceral organs and cns HP:0003640
40 onset HP:0003674
41 phenotypic variability HP:0003812
42 bone-marrow foam cells HP:0004333
43 prolonged neonatal jaundice HP:0006579
44 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:

32
Eye, 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:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5NPC1, NPC2, SMPD1
2MP:00053868.5NPC1, NPC2, SMPD1
3MP:00053888.4NPC1, NPC2, SMPD1
4MP:00053978.2SMPD1, NPC2, NPC1

Publications for Niemann-Pick Disease Type C1

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Articles related to Niemann-Pick Disease Type C1:

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

64 (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 60)
id Gene Name Type Significance SNP ID Assembly Location
1NPC2NM_006432.3(NPC2): c.441+1G> Asingle nucleotide variantPathogenicGRCh37Chr 14, 74947404: 74947404
2NPC1NM_000271.4(NPC1): c.1030delT (p.Ser344Leufs)deletionPathogenicrs483352883GRCh38Chr 18, 23556539: 23556539
3NPC1NM_000271.4(NPC1): c.1502A> T (p.Asp501Val)single nucleotide variantPathogenicrs483352885GRCh38Chr 18, 23554809: 23554809
4NPC1NM_000271.4(NPC1): c.1553G> A (p.Arg518Gln)single nucleotide variantPathogenicrs483352886GRCh38Chr 18, 23554758: 23554758
5NPC1NM_000271.4(NPC1): c.1800delC (p.Ile601Phefs)deletionPathogenicrs483352879GRCh38Chr 18, 23545107: 23545107
6NPC1NM_000271.4(NPC1): c.1832A> G (p.Asp611Gly)single nucleotide variantPathogenicrs483352887GRCh38Chr 18, 23545075: 23545075
7NPC1NM_000271.4(NPC1): c.2054T> C (p.Ile685Thr)single nucleotide variantPathogenicrs483352888GRCh38Chr 18, 23544420: 23544420
8NPC1NM_000271.4(NPC1): c.2128C> T (p.Gln710Ter)single nucleotide variantPathogenicrs483352889GRCh38Chr 18, 23544346: 23544346
9NPC1NM_000271.4(NPC1): c.2177G> C (p.Arg726Thr)single nucleotide variantPathogenicrs483352890GRCh38Chr 18, 23543523: 23543523
10NPC1NM_000271.4(NPC1): c.2230_2231delGT (p.Val744Serfs)deletionPathogenicrs483352882GRCh38Chr 18, 23543469: 23543470
11NPC1NM_000271.4(NPC1): c.2302dupG (p.Val768Glyfs)duplicationPathogenicrs483352881GRCh38Chr 18, 23541377: 23541377
12NPC1NM_000271.4(NPC1): c.2366G> A (p.Arg789His)single nucleotide variantPathogenicrs483352891GRCh38Chr 18, 23541313: 23541313
13NPC1NM_000271.4(NPC1): c.2795dupA (p.Tyr932Terfs)duplicationPathogenicrs483352884GRCh38Chr 18, 23539811: 23539811
14NPC1NM_000271.4(NPC1): c.2912-3C> Gsingle nucleotide variantPathogenicrs483352892GRCh38Chr 18, 23538674: 23538674
15NPC1NM_000271.4(NPC1): c.416dupC (p.Asn140Lysfs)duplicationPathogenicrs483352880GRCh38Chr 18, 23568870: 23568870
16NPC2NM_006432.3(NPC2): c.3G> C (p.Met1Ile)single nucleotide variantPathogenicrs483352893GRCh37Chr 14, 74959975: 74959975
17NPC1NM_000271.4(NPC1): c.2324A> C (p.Gln775Pro)single nucleotide variantPathogenicrs80358253GRCh37Chr 18, 21121319: 21121319
18NPC1NM_000271.4(NPC1): c.2974G> A (p.Gly992Arg)single nucleotide variantPathogenicrs80358254GRCh37Chr 18, 21118573: 21118573
19NPC1NM_000271.4(NPC1): c.3160G> A (p.Ala1054Thr)single nucleotide variantPathogenicrs80358258GRCh37Chr 18, 21116722: 21116722
20NPC2NM_006432.3(NPC2): c.133C> T (p.Gln45Ter)single nucleotide variantPathogenicrs80358262GRCh37Chr 14, 74953089: 74953089
21NPC2NM_006432.3(NPC2): c.141C> A (p.Cys47Ter)single nucleotide variantPathogenicrs80358263GRCh37Chr 14, 74953081: 74953081
22NPC2NM_006432.3(NPC2): c.27delG (p.Leu10Serfs)deletionPathogenicrs80358267GRCh37Chr 14, 74959951: 74959951
23NPC2NM_006432.3(NPC2): c.295T> C (p.Cys99Arg)single nucleotide variantPathogenicrs80358264GRCh37Chr 14, 74951186: 74951186
24NPC2NM_006432.3(NPC2): c.332delA (p.Asn111Ilefs)deletionPathogenicrs80358265GRCh37Chr 14, 74951149: 74951149
25NPC1NM_000271.4(NPC1): c.2783A> C (p.Gln928Pro)single nucleotide variantPathogenicrs28940897GRCh37Chr 18, 21119787: 21119787
26NPC1NM_000271.4(NPC1): c.3107C> T (p.Thr1036Met)single nucleotide variantPathogenicrs28942104GRCh37Chr 18, 21116775: 21116775
27NPC1NM_000271.4(NPC1): c.3467A> G (p.Asn1156Ser)single nucleotide variantPathogenicrs28942105GRCh37Chr 18, 21115443: 21115443
28NPC1NM_000271.4(NPC1): c.2974G> T (p.Gly992Trp)single nucleotide variantPathogenicrs80358254GRCh37Chr 18, 21118573: 21118573
29NPC1NPC1, 1553G-Asingle nucleotide variantPathogenic
30NPC1NM_000271.4(NPC1): c.3019C> G (p.Pro1007Ala)single nucleotide variantPathogenicrs80358257GRCh37Chr 18, 21118528: 21118528
31NPC1NM_000271.4(NPC1): c.3182T> C (p.Ile1061Thr)single nucleotide variantPathogenicrs80358259GRCh37Chr 18, 21116700: 21116700
32NPC1NM_000271.4(NPC1): c.2873G> A (p.Arg958Gln)single nucleotide variantPathogenicrs120074132GRCh37Chr 18, 21119357: 21119357
33NPC1NM_000271.4(NPC1): c.2974G> C (p.Gly992Arg)single nucleotide variantPathogenicrs80358254GRCh37Chr 18, 21118573: 21118573
34NPC1NM_000271.4(NPC1): c.1133T> C (p.Val378Ala)single nucleotide variantPathogenicrs120074134GRCh37Chr 18, 21136400: 21136400
35NPC1NM_000271.4(NPC1): c.2848G> A (p.Val950Met)single nucleotide variantPathogenicrs120074135GRCh37Chr 18, 21119382: 21119382
36NPC1NM_000271.4(NPC1): c.3104C> T (p.Ala1035Val)single nucleotide variantPathogenicrs28942107GRCh37Chr 18, 21116778: 21116778
37NPC1NPC1, IVS23, G-A, +1single nucleotide variantPathogenic
38NPC1NM_000271.4(NPC1): c.530G> A (p.Cys177Tyr)single nucleotide variantPathogenicrs80358252GRCh37Chr 18, 21141425: 21141425
39NPC1NPC1, IVS16, G-A, -82single nucleotide variantPathogenic
40NPC1NM_000271.4(NPC1): c.2932C> T (p.Arg978Cys)single nucleotide variantPathogenicrs28942108GRCh37Chr 18, 21118615: 21118615
41NPC1NPC1, 1-BP DEL, 3662TdeletionPathogenic
42NPC1NM_000271.4(NPC1): c.337T> C (p.Cys113Arg)single nucleotide variantPathogenicrs120074136GRCh37Chr 18, 21148913: 21148913
43NPC1NPC1, 4-BP DEL, 3611-3614deletionPathogenic
44SMPD1NM_000543.4(SMPD1): c.1493G> T (p.Arg498Leu)single nucleotide variantPathogenicrs120074117GRCh37Chr 11, 6415434: 6415434
45SMPD1NM_000543.4(SMPD1): c.1735G> A (p.Gly579Ser)single nucleotide variantPathogenicrs120074119GRCh37Chr 11, 6415676: 6415676
46SMPD1NM_000543.4(SMPD1): c.788T> A (p.Leu263Ter)single nucleotide variantPathogenicrs120074120GRCh37Chr 11, 6413083: 6413083
47SMPD1NM_000543.4(SMPD1): c.1152G> A (p.Met384Ile)single nucleotide variantPathogenicrs120074121GRCh37Chr 11, 6414506: 6414506
48SMPD1NM_000543.4(SMPD1): c.996delC (p.Phe333Serfs)deletionPathogenicrs387906289GRCh37Chr 11, 6413291: 6413291
49SMPD1NM_000543.4(SMPD1): c.1451C> A (p.Ala484Glu)single nucleotide variantPathogenicrs267607075GRCh37Chr 11, 6415236: 6415236
50SMPD1NM_000543.4(SMPD1): c.1406A> C (p.Tyr469Ser)single nucleotide variantPathogenicrs267607074GRCh37Chr 11, 6415191: 6415191
51NPC2NM_006432.3(NPC2): c.58G> T (p.Glu20Ter)single nucleotide variantPathogenicrs80358260GRCh37Chr 14, 74959920: 74959920
52NPC2NPC2, 1-BP DEL, 111AdeletionPathogenic
53NPC2NM_006432.3(NPC2): c.190+5G> Asingle nucleotide variantPathogenicrs80358268GRCh37Chr 14, 74953027: 74953027
54NPC2NM_006432.3(NPC2): c.352G> T (p.Glu118Ter)single nucleotide variantPathogenicrs80358266GRCh37Chr 14, 74951129: 74951129
55NPC2NPC2, 1-BP DEL, 27GdeletionPathogenic
56NPC2NM_006432.3(NPC2): c.199T> C (p.Ser67Pro)single nucleotide variantPathogenicrs11694GRCh37Chr 14, 74951282: 74951282
57NPC2NM_006432.3(NPC2): c.115G> A (p.Val39Met)single nucleotide variantPathogenicrs80358261GRCh37Chr 14, 74953107: 74953107
58NPC2NPC2, IVS1DS, T-C, +2single nucleotide variantPathogenic
59NPC2NM_006432.3(NPC2): c.436C> T (p.Gln146Ter)single nucleotide variantPathogenicrs104894457GRCh37Chr 14, 74947410: 74947410
60NPC2NM_006432.3(NPC2): c.358C> T (p.Pro120Ser)single nucleotide variantPathogenicrs104894458GRCh37Chr 14, 74951123: 74951123

Expression for genes affiliated with Niemann-Pick Disease Type C1

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Expression patterns in normal tissues for genes affiliated with Niemann-Pick Disease Type C1

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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Pathways related to Niemann-Pick Disease Type C1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0NPC1, NPC2
28.5NPC1, NPC2, SMPD1

Compounds for genes affiliated with Niemann-Pick Disease Type C1

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Sources:
24HMDB, 44Novoseek, 28IUPHAR, 11DrugBank
See all sources

Compounds related to Niemann-Pick Disease Type C1 according to GeneCards/GeneDecks:

(show top 50)    (show all 156)
idCompoundScoreTop Affiliating Genes
1SM(d18:1/12:0)249.6NPC2, SMPD1
2SM(d18:1/14:0)249.6NPC2, SMPD1
3SM(d18:1/18:1(11Z))249.6NPC2, SMPD1
4SM(d18:1/18:1(9Z))249.6NPC2, SMPD1
5SM(d18:0/24:1(15Z))249.6SMPD1, NPC2
6SM(d18:0/24:0)249.6SMPD1, NPC2
7SM(d18:0/23:0)249.6SMPD1, NPC2
8SM(d18:0/22:1(13Z))249.6SMPD1, NPC2
9SM(d18:0/22:0)249.6SMPD1, NPC2
10SM(d18:1/20:0)249.6NPC2, SMPD1
11SM(d19:1/24:1(15Z))249.6SMPD1, NPC2
12SM(d18:1/26:0)249.5SMPD1, NPC2
13SM(d18:1/24:1(15Z))249.5SMPD1, NPC2
14SM(d18:1/24:0)249.5SMPD1, NPC2
15SM(d18:1/23:0)249.5SMPD1, NPC2
16SM(d18:1/22:1(13Z))249.5SMPD1, NPC2
17SM(d18:1/22:0)249.5SMPD1, NPC2
18SM(d16:1/24:1(15Z))249.5NPC2, SMPD1
19SM(d18:0/14:0)249.5SMPD1, NPC2
20SM(d18:0/18:0)249.5NPC2, SMPD1
21SM(d18:0/12:0)249.5SMPD1, NPC2
22SM(d18:0/18:1(11Z))249.5NPC2, SMPD1
23SM(d18:0/18:1(9Z))249.5NPC2, SMPD1
24SM(d17:1/24:1(15Z))249.5SMPD1, NPC2
25SM(d18:0/20:0)249.5SMPD1, NPC2
26SM(d17:1/24:0)249.5NPC2, SMPD1
27SM(d18:0/14:1(9Z)(OH))249.5NPC2, SMPD1
28SM(d18:1/16:0)249.5NPC2, SMPD1
29SM(d18:0/16:0)249.5SMPD1, NPC2
30SM(d18:1/18:0)249.5SMPD1, NPC2
31SM(d18:0/20:2(11Z,14Z))249.5SMPD1, NPC2
32SM(d18:0/22:1(13Z)(OH))249.4NPC2, SMPD1
33SM(d18:0/22:2(13Z,16Z)(OH))249.4NPC2, SMPD1
34SM(d18:0/22:3(10Z,13Z,16Z))249.4NPC2, SMPD1
35SM(d18:0/24:1(15Z)(OH))249.4NPC2, SMPD1
36SM(d18:0/16:1(9Z)(OH))249.4NPC2, SMPD1
37SM(d18:0/16:1(9Z))249.4NPC2, SMPD1
38SM(d18:0/26:1(17Z))249.4SMPD1, NPC2
39Tetrahexosylceramide (d18:1/24:0)249.4SMPD1, NPC2
40Tetrahexosylceramide (d18:1/24:1(15Z))249.3NPC2, SMPD1
41Tetrahexosylceramide (d18:1/25:0)249.3NPC2, SMPD1
42Tetrahexosylceramide (d18:1/26:0)249.3NPC2, SMPD1
43Tetrahexosylceramide (d18:1/26:1(17Z))249.2NPC2, SMPD1
44Tetrahexosylceramide (d18:1/22:0)249.2SMPD1, NPC2
45Mannosyl-inositol-phosphorylceramide249.1SMPD1, NPC2
46Tetrahexosylceramide (d18:1/20:0)249.1NPC2, SMPD1
47Mannosyl-diinositol-phosphorylceramide249.0SMPD1, NPC2
48ganglioside449.0NPC1, NPC2, SMPD1
49cholesterol44 28 24 1112.0NPC1, NPC2, SMPD1
50Inositol-P-ceramide248.8SMPD1, NPC2

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

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Cellular components related to Niemann-Pick Disease Type C1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.0NPC1, NPC2

Biological processes related to Niemann-Pick Disease Type C1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to drugGO:0424939.3NPC1, SMPD1
2cholesterol transportGO:0303019.1NPC1, NPC2
3cholesterol effluxGO:0333449.0NPC2, NPC1
4cholesterol homeostasisGO:0426328.9NPC1, NPC2
5cholesterol metabolic processGO:0082038.7NPC2, NPC1

Molecular functions related to Niemann-Pick Disease Type C1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cholesterol bindingGO:0154859.0NPC1, NPC2

Products for genes affiliated with Niemann-Pick Disease Type C1

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  • Antibodies
  • Proteins
  • Lysates

Sources for Niemann-Pick Disease Type C1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet