MCID: NMN004
MIFTS: 51

Niemann-Pick Disease Type C1 malady

Neuronal diseases, Eye diseases, Respiratory diseases, Metabolic diseases categories

Summaries for Niemann-Pick Disease Type C1

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46OMIM, 32MalaCards
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MalaCards: Niemann-Pick Disease Type C1, also known as niemann-pick disease, type c, is related to niemann–pick disease and niemann-pick disease, and has symptoms including sleep and vigilance disorders, speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia and psychic/behavioural troubles. An important gene associated with Niemann-Pick Disease Type C1 is NPC1 (Niemann-Pick disease, type C1). The compounds cholesterol and sterol have been mentioned in the context of this disorder. Affiliated tissues include liver and eye.

Description from OMIM:46 257220,607625

Aliases & Classifications for Niemann-Pick Disease Type C1

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Sources:
48Orphanet, 42NIH Rare Diseases, 60UMLS, 20GeneTests, 22GTR, 46OMIM, 57SNOMED-CT via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

niemann-pick disease type c1 42 20 22
niemann-pick disease, type c 42 60
neurovisceral storage disease with vertical supranuclear ophthalmoplegia 42
niemann-pick disease with cholesterol esterification block 42
niemann-pick disease, chronic neuronopathic form 42
niemann-pick disease, subacute juvenile form 42
niemann-pick disease, type c1 46
niemann-pick disease, type a 60
niemann-pick disease, type d 60
niemann-pick disease type c 48


External Ids:

SNOMED-CT via Orphanet57 18927009, 66751000
MESH via Orphanet35 D052556
ICD10 via Orphanet26 E75.2
UMLS via Orphanet61 C0220756

Related Diseases for Niemann-Pick Disease Type C1

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Sources:
17GeneCards, 18GeneDecks
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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

Clinical Features for Niemann-Pick Disease Type C1

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

257220,607625

Clinical synopsis from OMIM:

257220

Symptoms:

48 (show all 20)
  • 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
  • motor deficit/trouble
  • splenomegaly
  • 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
  • hepatitis/icterus/cholestasis

Drugs & Therapeutics for Niemann-Pick Disease Type C1

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Niemann-Pick Disease Type C1

Drug clinical trials:

Search ClinicalTrials for Niemann-Pick Disease Type C1

Search NIH Clinical Center for Niemann-Pick Disease Type C1

Search CenterWatch for Niemann-Pick Disease Type C1

Genetic Tests for Niemann-Pick Disease Type C1

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Niemann-Pick Disease Type C1:

id Genetic test Affiliating Genes
1 Niemann-Pick Disease Type C120 22 NPC1

Anatomical Context for Niemann-Pick Disease Type C1

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Sources:
32MalaCards
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MalaCards organs/tissues related to Niemann-Pick Disease Type C1:

32
Liver, Eye

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

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Publications for Niemann-Pick Disease Type C1

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Genetic Variations for Niemann-Pick Disease Type C1

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Sources:
62UniProtKB/Swiss-Prot
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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

Expression for genes affiliated with Niemann-Pick Disease Type C1

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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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Compounds for genes affiliated with Niemann-Pick Disease Type C1

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Niemann-Pick Disease Type C1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cholesterol44 28 11 2412.0NPC1L1, NPC1
2sterol448.7NPC1L1, NPC1

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

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Sources:
16Gene Ontology
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Biological processes related to Niemann-Pick Disease Type C1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to drugGO:0424939.0NPC1L1, NPC1
2cholesterol transportGO:0303018.9NPC1L1, NPC1
3cholesterol homeostasisGO:0426328.7NPC1L1, NPC1

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

idNameGO IDScoreTop Affiliating Genes
1hedgehog receptor activityGO:0081589.0NPC1L1, NPC1

Products for genes affiliated with Niemann-Pick Disease Type C1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet