MCID: NMN015
MIFTS: 64

Niemann-Pick Disease, Type C1 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Respiratory diseases, Immune diseases

Aliases & Classifications for Niemann-Pick Disease, Type C1

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

Name: Niemann-Pick Disease, Type C1 51 12 34 67
Niemann-Pick Disease Type D 47 24 69 26
Niemann-Pick Disease, Type C 47 26 67
Niemann-Pick Disease Type C1 34 47 24
Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia 47 69
Niemann-Pick Disease with Cholesterol Esterification Block 47 69
Niemann-Pick Disease Without Sphingomyelinase Deficiency 47 69
Niemann-Pick Disease, Type D 51 67
Niemann-Pick Disease C1 69 26
Npc1 47 69
Niemann-Pick Disease, Chronic Neuronopathic Form 47
 
Niemann-Pick Disease Chronic Neuronopathic Form 69
Niemann-Pick Disease, Subacute Juvenile Form 47
Niemann-Pick Disease Subacute Juvenile Form 69
Nova Scotia Form of Niemann-Pick Disease 47
Niemann-Pick Disease, Nova Scotian Type 47
Niemann-Pick Disease, Nova Scotia Type 24
Niemann-Pick Disease Nova Scotian Type 69
Nova Scotia Niemann-Pick Disease 47
Niemann-Pick Disease Type Ii 69
Niemann-Picks Disease Type C 49
Npc 69

Characteristics:

HPO:

63
niemann-pick disease, type c1:
Inheritance: autosomal recessive inheritance
Onset and clinical course: onset, phenotypic variability

Classifications:



Summaries for Niemann-Pick Disease, Type C1

About this section
OMIM:51 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 d, is related to niemann-pick disease type c, juvenile neurologic onset and niemann-pick disease type c, adult neurologic onset, and has symptoms including vertical supranuclear gaze palsy, psychosis and dementia. An important gene associated with Niemann-Pick Disease, Type C1 is NPC1 (NPC Intracellular Cholesterol Transporter 1), and among its related pathways are Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF) and Fat digestion and absorption. Affiliated tissues include liver, bone marrow and brain, and related mouse phenotypes are taste/olfaction and liver/biliary system.

UniProtKB/Swiss-Prot:69 Niemann-Pick disease C1: 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 C1 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. An allelic variant of Niemann-Pick disease type C1 is found in people with Nova Scotia ancestry. Patients with the Nova Scotian clinical variant are less severely affected.

Related Diseases for Niemann-Pick Disease, Type C1

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Diseases in the Niemann-Pick Disease family:

Niemann-Pick Disease, Type a Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type C2 niemann-pick disease, type c1

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

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1niemann-pick disease type c, juvenile neurologic onset34.3NPC1, NPC2
2niemann-pick disease type c, adult neurologic onset34.2NPC1, NPC2
3pick disease30.1APP, MAPT, SNCA
4niemann-pick disease type c, severe perinatal form12.2
5niemann-pick disease type c, late infantile neurologic onset12.2
6niemann-pick disease type c, severe early infantile neurologic onset12.2
7nasopharyngeal carcinoma11.5
8niemann-pick disease, type c210.8
9niemann-pick disease10.8
10limbic encephalitis with nmda receptor antibodies10.6NPC1, NPC2
11congenital enterovirus infection10.6NPC1, NPC2
12mucopolysaccharidosis type 2, attenuated form10.6NPC1, NPC2
13adult polyglucosan body disease10.5NPC1, SMPD1
14spinal muscular atrophy with progressive myoclonic epilepsy10.4PSAP, SMPD1
15nasopharyngitis10.3
16parovarian cyst10.3NPC1, NPC2, SMPD1
17pediatric infratentorial ependymoma10.3NPC1, NPC2, SMPD1
18mental retardation, autosomal recessive 4310.3PSAP, SMPD1
19neuronitis10.2
20crohn's disease10.1
21leukemia10.1
22lymphoblastic leukemia10.1
23hypothalamic disease10.0NPC1, NPC2, PSAP, SMPD1
24dientamoebiasis10.0NPC1, NPC2, PSAP, SMPD1
25rheumatic disease10.0APP, HCRT
26adrenocortical insufficiency, without ovarian defect9.9APP, MAPT
27glomangiosarcoma9.9HCRT, SNCA
28erythematosquamous dermatosis9.9HCRT, SNCA
29graves disease 19.8PSAP, SNCA
30suppurative thyroiditis9.7MAPT, SNCA
31anti-p200 pemphigoid9.7MAPT, SNCA
32basilar impression, primary9.6MAPT, SNCA
33phka2-related phosphorylase kinase deficiency9.6MAPT, SNCA
34myoclonic encephalopathy of infants9.5MAPT, SNCA
35adult brain stem glioma9.5MAPT, SNCA
36osteochondritis dissecans9.4APOD, NPC1, NPC1L1, NPC2, PSAP, SMPD1
37whiplash9.4MAPT, SNCA
38avoidant personality disorder9.4HCRT, MAPT, SNCA
39mast syndrome9.3APP, MAPT, SNCA
40meier-gorlin syndrome 59.3APP, MAPT, SNCA
41adrenal gland pheochromocytoma9.3APP, MAPT, SNCA
42angiomyolipoma9.3APP, MAPT, SNCA
43chronic intestinal vascular insufficiency9.3APP, MAPT, SNCA
44gemistocytic astrocytoma9.3APP, MAPT, SNCA
45tinea unguium9.2APP, MAPT, SNCA
46perry syndrome9.2MAPT, SNCA
47vaginal tubular adenoma9.1APP, MAPT, NPC1, SNCA
48parkinson disease, late-onset8.9APP, HCRT, MAPT, SNCA
49cardiomyopathy, dilated, 1u8.8MAPT, NPC1, NPC1L1, NPC2, SMPD1, SNCA
50atrial septal defect 96.5ABCA1, APOD, APP, ASAH2, HCRT, MAPT

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

Human phenotypes related to Niemann-Pick Disease, Type C1:

 63 (show all 26)
id Description HPO Frequency HPO Source Accession
1 vertical supranuclear gaze palsy63 HP:0000511
2 psychosis63 HP:0000709
3 dementia63 HP:0000726
4 intellectual disability63 HP:0001249
5 seizures63 HP:0001250
6 ataxia63 HP:0001251
7 muscular hypotonia63 HP:0001252
8 spasticity63 HP:0001257
9 dysarthria63 HP:0001260
10 global developmental delay63 HP:0001263
11 dystonia63 HP:0001332
12 splenomegaly63 HP:0001744
13 fetal ascites63 HP:0001791
14 sea-blue histiocytosis63 HP:0001982
15 dysphagia63 HP:0002015
16 neurofibrillary tangles63 HP:0002185
17 hepatomegaly63 HP:0002240
18 loss of speech63 HP:0002371
19 cataplexy63 HP:0002524
20 neuronal loss in central nervous system63 HP:0002529
21 low cholesterol esterification rates63 HP:0003349
22 abnormal cholesterol homeostasis63 HP:0003464
23 foam cells in visceral organs and cns63 HP:0003640
24 bone-marrow foam cells63 HP:0004333
25 prolonged neonatal jaundice63 HP:0006579
26 fatal liver failure in infancy63 HP:0006583

UMLS symptoms related to Niemann-Pick Disease, Type C1:


cerebellar ataxia, hepatomegaly, muscle spasticity, seizures

Drugs & Therapeutics for Niemann-Pick Disease, Type C1

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Drugs for Niemann-Pick Disease, Type C1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50)    (show all 59)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EzetimibeapprovedPhase 4, Phase 3, Phase 1272163222-33-1150311
Synonyms:
(-)-Sch 58235
(1-(4-fluorophenyl)-(3R)-(3-(4-fluorophenyl)-(3S)-hydroxypropyl)-(4S)-(4-hydroxyphenyl)-2-azetidinone)
(3R,4S)-1-(4-fluorophenyl)-3-[(3S)-3-(4-fluorophenyl)-3-hydroxypropyl]-4-(4-hydroxyphenyl)azetidin-2-one
(3R,4S)-1-(p-Fluorophenyl)-3-((3S)-3-(p-fluorophenyl)-3-hydroxypropyl)-4-(p-hydroxyphenyl)-2-azetidinone
1-(4-fluorophenyl)-3(R)-[3-(4-fluorophenyl)-3(S)-(4-hydroxyphenyl)-2-azetidione
1-(4-fluorophenyl)-3(R)-[3-(4-fluorophenyl)-3(S)-hydroxypropyl]-4(S)-(4-hydroxyphenyl)-2-azetidinone
163222-33-1
AC-1057
AC1L442L
C108606
CHEBI:49040
CHEMBL1138
CID150311
CPD000466334
D01966
DB00973
Essex brand of ezetimibe
Ezedoc
Ezetimiba
Ezetimibe
Ezetimibe (JAN/USAN/INN)
Ezetimibe [USAN:INN]
Ezetimibum
 
Ezetrol
HMS2051K16
LS-181801
MK-0653
MLS000759443
MLS001424125
MSD brand of ezetimibe
Merck brand of ezetimibe
MolPort-005-938-627
S1655_Selleck
SAM001246623
SCH-58235
SCH58235
SMR000466334
STK640490
STOCK6S-73750
Sch 58235
Schering-Plough brand of ezetimibe
UNII-EOR26LQQ24
ZINC03810860
Zetia
Zetia (TN)
Zetia , Ezetrol, Ezetimibe
Zient
ezetimib
2Lipid Regulating AgentsPhase 4, Phase 3, Phase 12702
3Hypolipidemic AgentsPhase 4, Phase 3, Phase 12721
4Anticholesteremic AgentsPhase 4, Phase 3, Phase 11983
5AntimetabolitesPhase 4, Phase 3, Phase 1, Phase 211774
6Liver ExtractsPhase 4, Phase 2, Phase 33868
7
Prednisoloneapproved, vet_approvedPhase 2, Phase 3115350-24-85755
Synonyms:
(11beta)-11,17,21-Trihydroxypregna-1,4-diene-3,20-dione
.DELTA.1-Cortisol
.DELTA.1-Dehydrocortisol
.DELTA.1-Dehydrohydrocortisone
.DELTA.1-Hydrocortisone
.delta.-Cortef
.delta.-Stab
1,2-Dehydrohydrocortisone
1,4-Pregnadiene-11beta,17alpha,21-triol-3,20-dione
1,4-Pregnadiene-3,20-dione-11beta,17alpha,21-triol
1-Dehydrocortisol
1-Dehydrohydrocortisone
3,20-dioxo-11beta,17alpha,21-Trihydroxy-1,4-pregnadiene
46656_FLUKA
46656_RIEDEL
50-24-8
58201-11-9
8056-11-9
AC-1773
AC1L1L2E
Ak-Pred
Ak-Tate
Alphadrol
Articulose-50
BPBio1_000164
BRD-K98039984-001-03-0
BRN 1354103
BSPBio_000148
Bio-0666
Bubbli-Pred
C07369
CCRIS 980
CHEBI:8378
CHEMBL131
CID5755
CO-Hydeltra
CPD000718761
Co-Hydeltra
Codelcortone
Cordrol
Cortalone
Cotogesic
Cotolone
D00472
D011239
DB00860
Decaprednil
Decortin H
Delcortol
Delta F
Delta(1)-dehydrohydrocortisone
Delta-Cortef
Delta-Cortef (TN)
Delta-Ef-Cortelan
Delta-Stab
Delta-stab
Deltacortenol
Deltacortril
Deltacortril Enteric
Deltahydrocortisone
Deltasolone
Deltisilone
Depo-Medrol
Derpo PD
Derpo Pd
Dexa-Cortidelt Hostacortin H
Dexa-Cortidelt hostacortin H
Di Adreson F
Di-Adreson F
Di-Adreson-F
Di-adreson F
DiAdresonF
Dicortol
Donisolone
Dydeltrone
EINECS 200-021-7
Eazolin D
Econopred
Econopred Plus
Erbacort
Erbasona
Estilsona
Fernisolone
Fernisolone P
Fernisolone-P
Flamasone
HMS1568H10
HMS2090J05
HSDB 3385
Hostacortin H
Hydeltra
Hydeltra-Tba
Hydeltrasol
Hydeltrone
Hydrodeltalone
Hydrodeltisone
Hydroretrocortin
Hydroretrocortine
I-Pred
Inflamase Forte
Inflamase Mild
K 1557
Key-Pred
Klismacort
LMST02030179
LS-7669
Lentosone
Lite Pred
M-Predrol
 
MLS001304083
MLS002154250
MLS002207037
Medrol
Medrol Acetate
Metacortandralone
Methylprednisolone Acetate
Meti-Derm
Meticortelone
Metreton
MolPort-002-507-147
NCGC00179649-01
NSC 9120
NSC9120
NSC9900
Neo-Delta-Cortef
Nisolone
Nor-Pred T.B.A.
Ocu-Pred
Ocu-Pred Forte
Ophtho-Tate
Orapred
P0152_SIGMA
P0637
P6004_SIGMA
PRDL
PRED-G
Panafcortelone
Paracortol
Paracotol
Pediapred
Poly-Pred
Precortalon
Precortancyl
Precortilon
Precortisyl
Pred Forte
Pred Mild
Predair
Predair A
Predair Forte
Predalone 50
Predalone T.B.A.
Predate
Predate Tba
Predate-50
Predcor-25
Predcor-50
Predcor-Tba
Predisolone Sodium Phosphate
Predne-Dome
Prednelan
Predni-Dome
Prednicen
Predniliderm
Predniretard
Prednis
Prednisolona
Prednisolona [INN-Spanish]
Prednisolone (JP15/USP/INN)
Prednisolone (anhydrous)
Prednisolone Acetate
Prednisolone Sodium Phosphate
Prednisolone Tebutate
Prednisolone [INN:BAN:JAN]
Prednisolonum
Prednisolonum [INN-Latin]
Predonin
Predonine
Prelone
Prenolone
Prestwick0_000274
Prestwick1_000274
Prestwick2_000274
Prestwick3_000274
Prestwick_404
Rolisone
S1737_Selleck
SAM002264639
SMR000718761
SPBio_002367
Scherisolon
Solone
Steran
Sterane
Sterolone
Supercortisol
UNII-9PHQ9Y1OLM
Ulacort
Ultra Pred
Ultracorten H
Ultracortene H
Ultracortene-H
Ultracortene-Hydrogen
Ultracortene-hydrogen
ZINC03833821
component of Ataraxoid
component of K-Predne-Dome
delta(1)-Cortisol
delta(1)-Dehydrocortisol
delta(1)-Dehydrohydrocortisone
delta(1)-Hydrocortisone
delta(sup 1)-Cortisol
delta(sup 1)-Dehydrocortisol
delta(sup 1)-Dehydrohydrocortisone
delta(sup 1)-Hydrocortisone
delta-dehydrocortisol
delta-dehydrohydrocortisone
delta-hydrocortisone
prednisolone
8
Busulfanapproved, investigationalPhase 2, Phase 354055-98-12478
Synonyms:
1, 4-Dimethanesulfonoxybutane
1, 4-Dimethylsulfonoxybutane
1, {4-Bis[methanesulfonoxy]butane}
1,4-BUTANEDIOL DIMETHANESULFONATE
1,4-Bis(methanesulfonoxy)butane
1,4-Bis(methanesulfonyloxy)butane
1,4-Bis[methanesulfonoxy]butane
1,4-Butanedi yl dimethanesulfonate
1,4-Butanediol dimethanesulfonate
1,4-Butanediol dimethanesulphonate
1,4-Butanediol dimethylsulfonate
1,4-Butanediol, dimethanesulfonate
1,4-Butanediol, dimethanesulphonate
1,4-Butanediyl dimethanesulfonate
1,4-Di(methylsulfonoxy)butane
1,4-Dimesyloxybutane
1,4-Dimethane sulfonyl oxybutane
1,4-Dimethanesulfonoxybutane
1,4-Dimethanesulfonoxylbutane
1,4-Dimethanesulfonyloxybutane
1,4-Dimethanesulphonyloxybutane
1,4-Dimethylsulfonoxybutane
1,4-Dimethylsulfonyloxybutane
2041 C. B
2041 C. B.
2041 C.B
2041 C.B.
4-((Methylsulfonyl)oxy)butyl methanesulfonate
4-methylsulfonyloxybutyl methanesulfonate
55-98-1
AC-198
AC1L1DRQ
AC1Q4GRQ
AI3-25012
AKOS003614975
AN 33501
Ambap55-98-1
B1022
B2635_FLUKA
B2635_SIGMA
BRN 1791786
BSPBio_001920
BUSULFAN (1,4-BUTANEDIOL, DIMETHANESULFONATE)
Bisulfex
Busilvex
Busulfan
Busulfan (JP15/USP/INN)
Busulfan GlaxoSmithKline Brand
Busulfan Orphan Brand
Busulfan Wellcome
Busulfan Wellcome Brand
Busulfan [INN:JAN]
Busulfano
Busulfano [INN-Spanish]
Busulfanum
Busulfanum [INN-Latin]
Busulfex
Busulphan
Busulphane
Butanedioldimethanesulfonate
Buzulfan
C.B. 2041
C6H14O6S2
CB 2041
CCRIS 418
CHEBI:28901
CHEMBL820
CID2478
CPD000058613
Citosulfan
D002066
D00248
DB01008
DivK1c_000847
EINECS 200-250-2
FT-0083567
G.T. 41
GT 2041
GT 41
Glaxo Wellcome Brand of Busulfan
GlaxoSmithKline Brand of Busulfan
Glyzophrol
HMS1920I07
HMS2091O09
HMS502K09
 
HSDB 7605
I09-1371
IDI1_000847
InChI=1/C6H14O6S2/c1-13(7,8)11-5-3-4-6-12-14(2,9)10/h3-6H2,1-2H3
KBio1_000847
KBio2_000512
KBio2_003080
KBio2_005648
KBio3_001420
KBioGR_000698
KBioSS_000512
LS-1358
Leucosulfan
MLS001076666
MYLERAN (TN)
Mablin
Methanesulfonic
Methanesulfonic acid, tetram ethylene ester
Methanesulfonic acid, tetramethylene ester
Mielevcin
Mielosan
Mielucin
Milecitan
Mileran
Misulban
Mitosan
Mitostan
MolPort-001-783-406
Myeleukon
Myeloleukon
Myelosan
Myelosanum
Mylecytan
Myleran
Myleran Tablets
Myleran tablets
Myleran, Busulfex, Busulfan
Mylerlan
NCGC00090905-01
NCGC00090905-02
NCGC00090905-03
NCGC00090905-04
NCGC00090905-05
NCGC00090905-06
NCGC00090905-07
NCI-C01592
NCI60_041640
NCIMech_000192
NINDS_000847
NSC 750
NSC-750
NSC-750sulphabutin
NSC750
Orphan Brand of Busulfan
Prestwick_989
S1692_Selleck
SAM002554887
SMR000058613
SPBio_000253
SPECTRUM1500152
ST50825921
Spectrum2_000067
Spectrum3_000320
Spectrum4_000259
Spectrum5_000928
Spectrum_000092
Sulfabutin
Sulfabutin (VAN)
Sulphabutin
Tetramethylene Dimethane Sulfonate
Tetramethylene bis(methanesulfonate)
Tetramethylene bis[methanesulfonate]
Tetramethylene dimethane sulfonate
Tetramethylene {bis[methanesulfonate]}
Tetramethylenester Kyseliny Methansulfonove
Tetramethylenester kyseliny methansulfonove
Tetramethylenester kyseliny methansulfonove [Czech]
UNII-G1LN9045DK
WLN: WS1&O4OSW1
Wellcome Brand of Busulfan
Wellcome, Busulfan
X 149
acid, tetramethylene ester
alkylating agent: crosslinks guanine residues
busulfan
butane-1,4-diyl dimethanesulfonate
n-Butane-1,3-di(methylsulfonate)
9
Methylprednisoloneapproved, vet_approvedPhase 2, Phase 3115383-43-26741
Synonyms:
(6S,8S,9S,10R,11S,13S,14S,17R)-11,17-dihydroxy-17-(2-hydroxyacetyl)-6,10,13-trimethyl-7,8,9,11,12,14,15,16-octahydro-6H-cyclopenta[a]phenanthren-3-one
(6a,11b)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6alpha,11beta)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6α,11β)-11,17,21-trihydroxy-6-methylpregna-1,4-diene-3,20-dione
.DELTA.1-6.alpha.-Methylhydrocortisone
1-Dehydro-6alpha-methylhydrocortisone
1-dehydro-6alpha-Methylhydrocortisone
1-dehydro-6α-methylhydrocortisone
11-beta,17,21-Trihydroxy-6-alpha-methylpregna-1,4-diene-3,20-dione
11beta,17,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methyl-1,4-pregnadiene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
121673-01-6
4-08-00-03498 (Beilstein Handbook Reference)
46436_FLUKA
46436_RIEDEL
570-35-4
6 Methylprednisolone
6-Methylprednisolone
6-alpha-Methylprednisolone
6.alpha.-Methylprednisolone
6923-42-8
6alpha-Methyl-11beta,17alpha,21-trihydroxy-1,4-pregnadiene-3,20-dione
6alpha-Methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
6alpha-Methylprednisolone
6alpha-methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
83-43-2
AC1L1N7A
Artisone-Wyeth
Artisone-wyeth
BPBio1_000174
BRD-K35240538-001-03-1
BRN 2340300
BSPBio_000158
Besonia
Bio-0658
CHEBI:6888
CHEMBL650
CID6741
CPD000058330
D00407
D008775
DB00959
Depo-Medrol (acetate)
Dopomedrol
EINECS 201-476-4
Esametone
Firmacort
HMS1568H20
HMS2090B13
HSDB 3127
LMST02030178
LS-118498
Lemod
M0639_SIGMA
M1665
MEPRDL
MLS000028541
MLS001148159
MLS002207191
Medesone
Medixon
Medlone 21
 
Medrate
Medrol
Medrol (TN)
Medrol Adt Pak
Medrol Dosepak
Medrol adt pak
Medrol dosepak
Medrol, Solu-Medrol, Medrone, Methylprednisolone
Medrone
Mesopren
Metastab
Methyleneprednisolone
Methylprednisolon
Methylprednisolone
Methylprednisolone (JP15/USP/INN)
Methylprednisolone [USAN:INN:BAN:JAN]
Methylprednisolone, 6-alpha
Methylprednisolonum
Methylprednisolonum [INN-Latin]
Metilbetasone
Metilprednisolona
Metilprednisolona [INN-Spanish]
Metilprednisolone
Metilprednisolone [DCIT]
Metilprednisolone [Dcit]
Metipred
Metrisone
Metrocort
Metysolon
Moderin
MolPort-002-528-554
NCGC00022735-03
NCI60_001657
NSC-19987
NSC19987
Nirypan
Noretona
Predni N Tablinen
Prednol- L
Pregna-1,4-diene-3,20-dione, 11beta,17,21-trihydroxy-6alpha-methyl- (8CI)
Prestwick0_000279
Prestwick1_000279
Prestwick2_000279
Prestwick3_000279
Prestwick_622
Promacortine
Reactenol
S1733_Selleck
SAM002589984
SMR000058330
SPBio_002377
Sieropresol
Solomet
Summicort
Suprametil
U 7532
UNII-X4W7ZR7023
Urbason
Urbasone
Wyacort
ZINC03875560
delta(1)-6alpha-Methylhydrocortisone
delta(sup 1)-6-alpha-Methylhydrocortisone
methylprednisolone
methylprenisolone
10
Cyclophosphamideapproved, investigationalPhase 2, Phase 3282950-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Anhydrous cyclophosphamide
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
 
DB00531
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
11
MiglustatapprovedPhase 3, Phase 2, Phase 12172599-27-051634
Synonyms:
(2R,3R,4R,5S)-1-butyl-2-(hydroxymethyl)piperidine-3,4,5-triol
1,5-Dideoxy-1,5-N-butylimino-D-glucitol
134282-77-2
72599-27-0
AC1L1BHJ
BuDNJ
Butyldeoxynojirimycin
CHEBI:49779
CHEBI:50381
CHEMBL1029
CID51634
D05032
DB00419
HMS2090N20
LS-116261
Miglustat
Miglustat (USAN/INN)
Miglustat [USAN]
Miglustat, Hydrochloride
Miglustatum
N-(N-Butyl)deoxynojirimycin
N-(n-Butyl)deoxynojirimycin
N-(n-butyl)-1,5-dideoxy-1,5-imino-D-glucitol
 
N-Bu-DNJ
N-Butyl deoxynojirimycin
N-Butyl-1-deoxynojirimycin
N-Butyl-DNJ
N-Butyl-deoxynojirimycin
N-Butyldeoxynojirimycin
N-Butylmoranoline
N-butyl-1-deoxynojirimycin
NB-DNJ
NB-dnj
NBV
OGT 918
OGT-918
SC 48334
SC-48334
SC48334
UNII-ADN3S497AZ
Vevesca
Zavesca
Zavesca (TN)
miglustatum
n-Butyl deoxynojirimycin
n-Butyl dnj
nchembio.81-comp12
nchembio850-comp5
12
1-DeoxynojirimycinexperimentalPhase 3, Phase 22619130-96-21374
Synonyms:
(2R,3R,4R,5S)-2-(Hydroxymethyl)piperidine-3,4,5-triol
1 deoxynojirimycin
1,5-Dideoxy-1,5-imino-D-glucitol, 9CI
1,5-deoxy-1,5-imino-D-mannitol
1,5-dideoxy-1,5-imino-D-glucitol
1-DEOXY-NOJIRIMYCIN
1-Deoxymannojirimycin
1-Deoxynojirimycin
1-Deoxynojirimycin (DNJ)
1-deoxy-nojirimycin
 
1-deoxynojirimycin
1hxk
1oim
5-amino-1,5-dideoxy-D-glucopyranose
Antibiotic S-GI
D-1-deoxynojirimycin
DNJ
Deoxynojirimycin
Moranoline
NOJ
S-GI
13Methylprednisolone acetatePhase 2, Phase 31153
14Immunosuppressive AgentsPhase 2, Phase 3, Phase 112770
15Prednisolone phosphatePhase 2, Phase 31153
16Insulin, Globin ZincPhase 34523
17Prednisolone hemisuccinatePhase 2, Phase 31153
18Prednisolone acetatePhase 2, Phase 31153
19Methylprednisolone HemisuccinatePhase 2, Phase 31153
20insulinPhase 34524
21Antiviral AgentsPhase 3, Phase 1, Phase 29732
22Anti-Retroviral AgentsPhase 3, Phase 2, Phase 13232
23Anti-HIV AgentsPhase 3, Phase 2, Phase 13100
24Antirheumatic AgentsPhase 2, Phase 310627
25Cardiac GlycosidesPhase 3, Phase 2, Phase 1148
26Anti-Infective AgentsPhase 3, Phase 1, Phase 221402
27Antilymphocyte SerumPhase 2, Phase 3399
28Antineoplastic Agents, AlkylatingPhase 2, Phase 34474
29Alkylating AgentsPhase 2, Phase 34694
30Hypoglycemic AgentsPhase 3, Phase 2, Phase 15733
31Glycoside Hydrolase InhibitorsPhase 3, Phase 2, Phase 1128
32Pharmaceutical SolutionsPhase 2, Phase 3, Phase 17793
33
Vorinostatapproved, investigationalPhase 1, Phase 2242149647-78-95311
Synonyms:
149647-78-9
1zz1
AC-1923
AC1L1K2K
BRD-K81418486-001-10-3
C111237
CCRIS 8456
CHEBI:45716
CHEMBL98
CID5311
D06320
DB02546
EC-000.2057
FT-0082592
LS-186548
LS-186997
LS-187780
MK-0683
MK0683
MLS001065855
Merck brand of Vorinostat
MolPort-003-850-293
N'-hydroxy-N-phenyloctanediamide
N-Hydroxy-N'-phenyl octanediamide
N-Hydroxy-N'-phenyloctanediamide
N-Hyrdroxy-N'-phenyloctanediamide
N-hydroxy-N'-phenyl-octane-1,8-diotic acid diamide
N-hydroxy-N'-phenyloctanediamide
N1-hydroxy-N8-phenyloctanediamide
NCGC00168085-02
 
NHNPODA
NSC-701852
NSC701852
OCTANEDIOIC ACID HYDROXYAMIDE PHENYLAMIDE
Octanedioic acid hydroxyamide phenylamide
S1047_Selleck
SAHA
SAHA cpd
SAHA, Suberoylanilide hydroxamic acid
SHH
SKI390
SMR000486344
SW-064652
Suberanilohydroxamic acid
SuberoylaN/Aide hydroxamic acid
Suberoylanilide hydroxamic acid
UNII-58IFB293JI
Vorinostat
Vorinostat (JAN/USAN)
Vorinostat MSD
Vorinostat [USAN]
Vorinostatum
WIN64652
ZINC01543873
Zolinza
Zolinza (TN)
Zolinza, MK-0683, SAHA
m344
nchembio.275-comp2
nchembio.313-comp1
nchembio815-comp18
suberoylanilide hydroxamic acid
34
AcetylcysteineapprovedPhase 1, Phase 2316616-91-112035
Synonyms:
(2R)-2-acetylamino-3-Sulfanylpropanoic acid
(R)-2-acetylamino-3-Mercaptopropanoic acid
(R)-Mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
 
Fluprowit
L-Acetylcysteine
L-alpha-acetamido-beta-Mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
35
Paclitaxelapproved, vet_approvedPhase 1, Phase 2275833069-62-436314
Synonyms:
(2AR-(2aalpha,4beta,4abeta,6beta,9alpha(alpha r*,betas*),11alpha,12alpha,12balpha))-beta-(benzoylamino)-alpha-hydroxybenzenepropanoic acid 6,12b-bis(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,11-dihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca(3,4)benz(1,2-b)oxet-9-yl ester
12-benzoate, 9-ester with (2R,3S)-N-benzoyl-3-phenylisoserine
157069-30-2
33069-62-4
5beta,20-Epoxy-1,2-alpha,4,7beta,10beta,13alpha-hexahydroxytax-11-en-9-one 4,10-diacetate 2-benzoate 13-ester with (2R,3S)-N-benzoyl-3-phenylisoserine
7,11-Methano-1H-cyclodeca[3,4]benz[1,2-b]oxete, benzenepropanoic acid deriv.
7,11-Methano-5H-cyclodeca[3,4]benz[1,2-b]oxete,benzenepropanoic acid deriv.
7-Epi-Paclitaxel
7-Epi-Taxol
7-Epipaclitaxel
7-Epitaxol
7-epi-Paclitaxel
7-epi-Taxol
AB00513812
ABI 007
ABI-007
ABI007
AC-675
AC1L1IOG
AC1L1VJI
AC1L9AVF
ACon1_002231
ANX-513
Abraxane
Abraxane (TN)
Abraxane I.V. Suspension
Abraxis BioScience brand of albumin-bound paclitaxel
Ambotz33069-62-4
Anzatax
Asotax
BIDD:PXR0046
BMS 181339-01
BMS-181339
BMS-181339-01
BPBio1_000320
BRD-A23723433-001-01-2
BRD-A28746609-001-04-0
BRD-K62008436-001-03-1
BSPBio_000290
BSPBio_001152
BSPBio_002614
Bio-0076
Bio1_000362
Bio1_000851
Bio1_001340
Bio2_000416
Bio2_000896
Bristaxol
C07394
C466458
C47H51NO14
CCRIS 8143
CHEBI:103439
CHEBI:45863
CHEMBL100910
CHEMBL418410
CHEMBL48
CID36314
CID441276
CID4666
CID6713921
CID6915727
CPD-8718
Capxol
D00491
DB01229
DHP-107
DHP-208
DRG-0190
DTS-301
DivK1c_000441
EU-0101201
Ebetaxel
EmPAC
Epitaxol
Genaxol
Genetaxyl
Genexol
Genexol-PM
HMS1362J13
HMS1568O12
HMS1792J13
HMS1922K08
HMS1990J13
HMS2090D07
HMS2093K15
HMS501G03
HSDB 6839
I06-0014
IDI1_000441
IDI1_002171
Intaxel
KBio1_000441
KBio2_000492
KBio2_002016
KBio2_002509
KBio2_003060
KBio2_004584
KBio2_005077
KBio2_005628
KBio2_007152
KBio2_007645
KBio3_000903
KBio3_000904
KBio3_001834
KBio3_002987
KBioGR_000492
KBioGR_001893
 
KBioGR_002509
KBioSS_000492
KBioSS_002016
KBioSS_002517
LMPR0104390001
LS-31070
LipoPac
Lopac0_001201
MBT 0206
MEGxp0_001940
MLS000863266
MLS001077297
MLS002154218
MLS002172439
MLS002695976
MPI-5018
Micellar Paclitaxel
Mitotax
MolPort-001-742-627
MolPort-003-665-783
MolPort-003-932-365
NCGC00024995-02
NCGC00024995-03
NCGC00024995-04
NCGC00024995-05
NCGC00024995-06
NCGC00024995-07
NCGC00164367-01
NCGC00164367-02
NCGC00164367-03
NCI60_000601
NINDS_000441
NK 105
NP-010981
NSC 125973
NSC-125973
NSC125973
NSC358882
Nanotaxel
Neuro_000060
Nova-12005
OAS-PAC-100
OncoGel
Onxal
Onxol
Onxol, Taxol, Nov-Onxol, Paclitaxel
P1632
Paclical
Pacligel
Paclitaxel
Paclitaxel (JAN/USP)
Paclitaxel (JAN/USP/INN)
Paclitaxel (Taxol)
Paclitaxel [USAN:INN:BAN]
Paxceed
Paxene
Paxoral
Plaxicel
Praxel
Prestwick0_000155
Prestwick1_000155
Prestwick2_000155
Prestwick3_000155
Probes2_000350
QW 8184
S-8184 Paclitaxel Injectable Emulsion
S1150_Selleck
SDCCGMLS-0066823.P001
SDP-013
SMP1_000228
SMR000394086
SMR000857385
SPBio_000943
SPBio_002229
SPECTRUM1503908
ST50306996
Spectrum2_000872
Spectrum3_001057
Spectrum4_001197
Spectrum5_001491
Spectrum_001536
T 7402
T1912_SIGMA
T7191_SIGMA
T7402_SIGMA
TA1
TAXOL (TN)
TAXOL, 10-EPI,
TXL
TaxAlbin
Taxol
Taxol A
Taxol Konzentrat
Taxol.RTM. (Registered Trademark)
UNII-P88XT4IS4D
UPCMLD-DP108:001
UPCMLD-DP108:002
Vascular Wrap
Xorane
Yewtaxan
abi-007
albumin-bound paclitaxel
cMAP_000068
nab-paclitaxel
nchembio.188-comp1
nchembio.2007.34-comp9
nchembio.215-comp9
nchembio853-comp6
paclitaxel
weekly paclitaxel
36
PancrelipaseapprovedPhase 1, Phase 293553608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
37
GemcitabineapprovedPhase 1, Phase 2197495058-81-460750
Synonyms:
103882-84-4
122111-03-9
2',2'-DiF-dC
2',2'-Difluoro-2'-deoxycytidine
2',2'-Difluorodeoxycytidine
2'-Deoxy-.beta.-D-2',2'-difluorocytidine
2'-Deoxy-2',2'-difluorocytidine
4-Amino-1-[(2R,4R,5R)-3,3-difluoro-4-hydroxy-5-(hydroxymethyl)oxolan-2-yl]pyrimidin-2-one
4-Amino-1-[3,3-difluoro-4-hydroxy-5-(hydroxymethyl) tetrahydrofuran-2-yl]-1H-pyrimidin-2-one
4-amino-1-((2R,4R,5R)-3,3-Difluoro-4-hydroxy-5-(hydroxymethyl)-tetrahydrofuran-2-yl)pyrimidin-2(1H)-one
4-amino-1-((2R,4R,5R)-3,3-difluoro-4-hydroxy-5-(hydroxymethyl)-tetrahydrofuran-2-yl)pyrimidin-2(1H)-one
95058-81-4
AB1004842
AC1L1TUQ
C07650
CCRIS 8984
CHEBI:175901
CHEMBL888
CID60750
Cytidine, 2'-deoxy-2',2'-difluoro-2'-Deoxy-.beta.-D-2',2'-difluorocytidine
D02368
DB00441
DDFC
DFDC
DFdC
DFdCyd
Folfugem
GEO
Gamcitabine
GemLip
Gemcel
 
Gemcin
Gemcitabin
Gemcitabina
Gemcitabina [INN-Spanish]
Gemcitabine
Gemcitabine (USAN/INN)
Gemcitabine HCl
Gemcitabine hydrochloride
Gemcitabine stereoisomer
Gemcitabinum
Gemcitabinum [INN-Latin]
Gemtro
Gemzar
Gemzar (hydrochloride)
HMS2089P10
HSDB 7567
Inno-D07001
LS-59139
LY 188011
LY-188011
LY188011
NCGC00168784-01
NChemBio.2007.10-comp25
NSC 613327
NSC613327
TL8005979
UNII-B76N6SBZ8R
ZINC18279854
Zefei
gemcitabine
nchembio.573-comp7
nchembio.90-comp2
38
alemtuzumabapproved, investigationalPhase 2303216503-57-0
Synonyms:
Campath
 
MabCampath
alemtuzumab
39Protective AgentsPhase 1, Phase 27190
40Respiratory System AgentsPhase 1, Phase 24818
41N-monoacetylcystinePhase 1, Phase 2316
42ExpectorantsPhase 1, Phase 2388
43Histone Deacetylase InhibitorsPhase 1, Phase 2566
44AntioxidantsPhase 1, Phase 22928
45AntidotesPhase 1, Phase 21038
46Antineoplastic Agents, PhytogenicPhase 1, Phase 25420
47Antimetabolites, AntineoplasticPhase 1, Phase 27171
48pancreatinPhase 1, Phase 2935
49Albumin-Bound PaclitaxelPhase 1, Phase 22757
50Antimitotic AgentsPhase 1, Phase 25498

Interventional clinical trials:

(show all 44)
idNameStatusNCT IDPhase
1Study of Ezetimibe for Chronic Hepatitis C Virus (HCV) Infection in Liver Transplant Candidates (EZE-2)RecruitingNCT02768545Phase 4
2Application of Miglustat in Patients With Niemann-Pick Type CCompletedNCT01760564Phase 3
3Stem Cell Transplant for Inborn Errors of MetabolismCompletedNCT00176904Phase 2, Phase 3
4Effects of Selective Inhibition of Cholesterol Absorption With Ezetimibe on Intestinal Cholesterol Homeostasis in Dyslipidemic Men With Insulin-resistance - a Pilot StudyCompletedNCT01849068Phase 3
5Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) to Treat Niemann-Pick Type C1 (NPC1) DiseaseRecruitingNCT02534844Phase 2, Phase 3
6Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type CRecruitingNCT02612129Phase 2, Phase 3
7Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase DeficiencyRecruitingNCT02004691Phase 2, Phase 3
8SurVival of Lysosomal Acid Lipase Deficiency (LAL-D) Infants Treated With SebelipAse aLfaActive, not recruitingNCT01371825Phase 2, Phase 3
9ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic DiseasesTerminatedNCT00654433Phase 3
10Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102TerminatedNCT01473875Phase 2, Phase 3
11Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1CompletedNCT02124083Phase 1, Phase 2
12Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl CysteineCompletedNCT00975689Phase 1, Phase 2
13Miglustat in Niemann-Pick Type C DiseaseCompletedNCT00517153Phase 2
14Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood CellsCompletedNCT00730314Phase 1, Phase 2
15Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase DeficiencyRecruitingNCT02292654Phase 1, Phase 2
16A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase DeficiencyRecruitingNCT02004704Phase 2
17QUILT-3.010: A Study of Gemcitabine and Nab-paclitaxel With or Without NPC-1C to Treat Patients With Pancreatic CancerRecruitingNCT01834235Phase 1, Phase 2
18Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic DisordersActive, not recruitingNCT01372228Phase 1, Phase 2
19Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase DeficiencyActive, not recruitingNCT02193867Phase 2
20QUILT-3.019: Phase 2 Study of NPC-1C Chimeric Monoclonal Antibody to Treat Pancreatic and Colorectal CancerActive, not recruitingNCT01040000Phase 1, Phase 2
21Study of Pharmacokinetics and Preliminary Efficacy in Patients With Niemann-Pick C1Not yet recruitingNCT02912793Phase 1, Phase 2
22Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of MetabolismTerminatedNCT00668564Phase 2
23Tolerability and Safety Study of Recombinant Human Acid Sphingomyelinase in Acid Sphingomyelinase Deficiency PatientsCompletedNCT01722526Phase 1
24Saccadic Eye Movements in Patients With Niemann-Pick Type C DiseaseCompletedNCT00316498Phase 1
25UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like CellsRecruitingNCT02254863Phase 1
26Human Placental-Derived Stem Cell TransplantationRecruitingNCT01586455Phase 1
27Pilot Study of Ezetimibe for Chronic Hepatitis C Virus (HCV) InfectionRecruitingNCT02126137Phase 1
28Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 DiseaseActive, not recruitingNCT01747135Phase 1
29Study of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1)Not yet recruitingNCT02939547Phase 1
30Safety Study of rhASM Enzyme Replacement Therapy in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease)TerminatedNCT00410566Phase 1
31Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell TransplantationUnknown statusNCT00005900
32Study of Changes in Total Cholesterol Levels as a Function of Consuming a Supplement Designed to Improve Cardiovascular HealthUnknown statusNCT01890889
33Longitudinal Study of Cognition With Niemann-Pick Disease, Type CCompletedNCT01899950
34PET Scan of Brain Metabolism in Relation to Age and DiseaseCompletedNCT00001972
35Impact of a Short-Term High Fat or Low Fat Diet on Intestinal Genes Expression Involved in the Cholesterol and Fatty Acid MetabolismCompletedNCT01806441
36Plant Stanols and Gene Expression ProfileCompletedNCT01574417
37Effects of N-3 Polyunsaturated Fatty Acids On Chylomicron Secretion And Expression Of Genes That Regulate Intestinal Lipid Metabolism In Men With Type 2 DiabetesCompletedNCT01449773
38Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type CRecruitingNCT00344331
39A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type CRecruitingNCT02435030
40Biomarker for Niemann Pick Type C DiseaseRecruitingNCT01306604
41Genetic Characterization of Movement Disorders and DementiasRecruitingNCT02014246
42Investigating Lysosomal Storage Diseases in Minority GroupsRecruitingNCT02120235
43Molecular and Cellular Mechanisms of Lysosomal Storage DiseasesRecruitingNCT02000310
44Screening of Niemann-Pick Disease, Type C in a Psychiatric PopulationTerminatedNCT02841358

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

Genetic Tests for Niemann-Pick Disease, Type C1

About this section

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

id Genetic test Affiliating Genes
1 Niemann-Pick Disease, Type C26
2 Niemann-Pick Disease Type C126 24 NPC1
3 Niemann-Pick Disease, Type D26

Anatomical Context for Niemann-Pick Disease, Type C1

About this section

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

35
Liver, Bone marrow, Brain, Eye, Bone, Lung, Olfactory bulb

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

About this section

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

40 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.1MAPT, NPC1, SNCA
2MP:00053708.9ABCA1, NPC1, NPC1L1, NPC2, PSAP, SMPD1
3MP:00053888.7ABCA1, HCRT, NPC1, NPC2, PSAP, SMPD1
4MP:00053798.4ABCA1, NPC1, NPC1L1, NPC2, PSAP, SNCA
5MP:00053898.1ABCA1, APP, NPC1, PSAP, SMPD1, SNCA
6MP:00053977.9ABCA1, APP, MAPT, NPC1, NPC2, PSAP
7MP:00053847.2ABCA1, APP, MAPT, NPC1, NPC2, PSAP
8MP:00053877.1ABCA1, APP, MAPT, NPC1, NPC2, PSAP
9MP:00053856.9ABCA1, APOD, HCRT, MAPT, NPC1, NPC2
10MP:00107686.6ABCA1, APOD, APP, MAPT, NPC1, NPC2
11MP:00053866.5APOD, APP, HCRT, MAPT, NPC1, NPC2
12MP:00053786.1ABCA1, APP, HCRT, MAPT, NPC1, NPC1L1
13MP:00036316.0ABCA1, APOD, APP, HCRT, MAPT, NPC1
14MP:00053764.9ABCA1, APOD, APP, ASAH2, HCRT, MAPT

Publications for Niemann-Pick Disease, Type C1

About this section

Articles related to Niemann-Pick Disease, Type C1:

(show all 28)
idTitleAuthorsYear
1
Niemann-Pick disease type C1(NPC1) is involved in resistance against imatinib in the imatinib-resistant Ph+ acute lymphoblastic leukemia cell line SUP-B15/RI. (26818574)
2016
2
Cathepsin S contributes to microglia-mediated olfactory dysfunction through the regulation of Cx3cl1-Cx3cr1 axis in a Niemann-Pick disease type C1 model. (27687148)
2016
3
Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease. (26953272)
2016
4
Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1. (27798114)
2016
5
Necroptosis in Niemann-Pick disease, type C1: a potential therapeutic target. (26986514)
2016
6
Misexpression of the Niemann-Pick disease type C1 (NPC1)-like protein in Arabidopsis causes sphingolipid accumulation and reproductive defects. (26007685)
2015
7
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. (25764212)
2015
8
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
9
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
10
Improved neuroprotection using miglustat, curcumin and ibuprofen as a triple combination therapy in Niemann-Pick disease type C1 mice. (24631719)
2014
11
Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1. (23653225)
2014
12
Niemann-Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: An autopsy case. (23711246)
2014
13
Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1. (24235134)
2014
14
Auditory phenotype of niemann-pick disease, type c1. (24225652)
2014
15
The role of the niemann-pick disease, type c1 protein in adipocyte insulin action. (24752197)
2014
16
Corpus Callosum Diffusion Tensor Imaging and Volume Measures Are Associated With Disease Severity in Pediatric Niemann-Pick Disease Type C1. (25194719)
2014
17
NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish. (23010472)
2013
18
Altered transition metal homeostasis in Niemann-Pick disease, type C1. (24343124)
2013
19
Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1. (23666527)
2013
20
Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1. (23023945)
2012
21
Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight. (23144710)
2012
22
Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1. (22619379)
2012
23
Morphological alterations of the cornea in the mouse model of niemann-pick disease type c1. (21317782)
2011
24
Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1. (19632328)
2009
25
Niemann-Pick disease type C1 presenting with psychosis in an adolescent male. (19267177)
2009
26
Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. (18953351)
2008
27
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
28
Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage. (16086131)
2005

Variations for Niemann-Pick Disease, Type C1

About this section

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

69 (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_008822rs483352886
6NPC1p.Val889MetVAR_008826rs120074130
7NPC1p.Gln928ProVAR_008827rs28940897
8NPC1p.Arg934GlnVAR_008828rs786204714
9NPC1p.Ser940LeuVAR_008829rs143124972
10NPC1p.Asp948AsnVAR_008830
11NPC1p.Ser954LeuVAR_008831rs543206298
12NPC1p.Cys956TyrVAR_008832
13NPC1p.Gly992TrpVAR_008833rs80358254
14NPC1p.Pro1007AlaVAR_008834rs80358257
15NPC1p.Thr1036MetVAR_008835rs28942104
16NPC1p.Ile1061ThrVAR_008836rs80358259
17NPC1p.Tyr1088CysVAR_008837rs28942106
18NPC1p.Asn1156SerVAR_008838rs28942105
19NPC1p.Phe1167LeuVAR_008839
20NPC1p.Arg1186HisVAR_008840rs200444084
21NPC1p.Leu1213PheVAR_008841rs120074131
22NPC1p.Leu1213ValVAR_008842rs766178353
23NPC1p.Cys177TyrVAR_015561rs80358252
24NPC1p.Val378AlaVAR_015562rs120074134
25NPC1p.Val950MetVAR_015563rs120074135
26NPC1p.Arg958GlnVAR_015564rs120074132
27NPC1p.Arg978CysVAR_015565rs28942108
28NPC1p.Gly992ArgVAR_015566rs80358254
29NPC1p.Ala1035ValVAR_015567rs28942107
30NPC1p.Cys63ArgVAR_043172rs747049347
31NPC1p.Cys74TyrVAR_043173
32NPC1p.Gln92ArgVAR_043174
33NPC1p.Cys113ArgVAR_043175rs120074136
34NPC1p.Thr137MetVAR_043176rs372947142
35NPC1p.Pro166SerVAR_043178rs866966704
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_043194rs139751448
50NPC1p.Arg404TrpVAR_043195
51NPC1p.Pro433LeuVAR_043196
52NPC1p.Pro434LeuVAR_043197rs774333145
53NPC1p.Glu451LysVAR_043199rs781065429
54NPC1p.Pro474LeuVAR_043200rs372445155
55NPC1p.Cys479TyrVAR_043201
56NPC1p.Tyr509SerVAR_043202
57NPC1p.His512ArgVAR_043204
58NPC1p.Arg518TrpVAR_043205rs377515417
59NPC1p.Ala521SerVAR_043206rs138184115
60NPC1p.Phe537LeuVAR_043207
61NPC1p.Pro543LeuVAR_043208rs369368181
62NPC1p.Thr574LysVAR_043209
63NPC1p.Lys576ArgVAR_043210rs761660695
64NPC1p.Ala605ValVAR_043211
65NPC1p.Glu612AspVAR_043212
66NPC1p.Arg615CysVAR_043213rs745777805
67NPC1p.Arg615LeuVAR_043214rs773351341
68NPC1p.Met631ArgVAR_043215
69NPC1p.Gly640ArgVAR_043216
70NPC1p.Ser652TrpVAR_043217
71NPC1p.Gly660SerVAR_043218
72NPC1p.Val664MetVAR_043219rs376213990
73NPC1p.Ser666AsnVAR_043220rs750480579
74NPC1p.Cys670TrpVAR_043221
75NPC1p.Gly673ValVAR_043222
76NPC1p.Leu684PheVAR_043223
77NPC1p.Pro691LeuVAR_043224
78NPC1p.Leu695ValVAR_043225rs370323921
79NPC1p.Asp700AsnVAR_043226
80NPC1p.Phe703SerVAR_043227
81NPC1p.Leu724ProVAR_043228
82NPC1p.Val727PheVAR_043229
83NPC1p.Ser734IleVAR_043230rs757475924
84NPC1p.Glu742LysVAR_043231
85NPC1p.Ala745GluVAR_043232rs752386083
86NPC1p.Met754LysVAR_043233
87NPC1p.Phe763LeuVAR_043234
88NPC1p.Ala767ValVAR_043235
89NPC1p.Gln775ProVAR_043236rs80358253
90NPC1p.Arg789CysVAR_043237
91NPC1p.Arg789GlyVAR_043238
92NPC1p.Tyr825CysVAR_043239rs550562774
93NPC1p.Ser849IleVAR_043240
94NPC1p.Gln862LeuVAR_043241
95NPC1p.Ser865LeuVAR_043242
96NPC1p.Tyr871CysVAR_043243
97NPC1p.Asp874ValVAR_043245rs372030650
98NPC1p.Pro888SerVAR_043246
99NPC1p.Tyr890CysVAR_043247
100NPC1p.Tyr899AspVAR_043248
101NPC1p.Gly910SerVAR_043249rs768999208
102NPC1p.Asp917TyrVAR_043250
103NPC1p.Ala926ThrVAR_043251rs564631426
104NPC1p.Ala927ValVAR_043252rs753768576
105NPC1p.Leu929ProVAR_043253
106NPC1p.Trp942CysVAR_043254
107NPC1p.Ile943MetVAR_043255
108NPC1p.Asp944AsnVAR_043256rs748837410
109NPC1p.Asp945AsnVAR_043257
110NPC1p.Asp948HisVAR_043258
111NPC1p.Asp948TyrVAR_043259
112NPC1p.Arg958LeuVAR_043260
113NPC1p.Val959GluVAR_043261
114NPC1p.Asn961SerVAR_043263rs34084984
115NPC1p.Asn968SerVAR_043264rs773767253
116NPC1p.Cys976ArgVAR_043266
117NPC1p.Gly986SerVAR_043267
118NPC1p.Gly992AlaVAR_043268rs757534240
119NPC1p.Met996ArgVAR_043269
120NPC1p.Ser1004LeuVAR_043270rs150334966
121NPC1p.Gly1012AspVAR_043271
122NPC1p.Gly1015ValVAR_043272rs761773567
123NPC1p.His1016ArgVAR_043273rs140211089
124NPC1p.Val1023GlyVAR_043274
125NPC1p.Gly1034ArgVAR_043275
126NPC1p.Thr1036LysVAR_043276
127NPC1p.Ala1054ThrVAR_043278rs80358258
128NPC1p.Arg1059GlnVAR_043279rs771000314
129NPC1p.Ala1062ValVAR_043280
130NPC1p.Thr1066AsnVAR_043281rs772622214
131NPC1p.Phe1087LeuVAR_043282rs746715353
132NPC1p.Glu1089LysVAR_043283rs374526072
133NPC1p.Ile1094ThrVAR_043284
134NPC1p.Asp1097AsnVAR_043285rs758829443
135NPC1p.Asn1137IleVAR_043286
136NPC1p.Gly1140ValVAR_043287
137NPC1p.Met1142ThrVAR_043288rs778878523
138NPC1p.Asn1150LysVAR_043289
139NPC1p.Asn1156IleVAR_043290rs28942105
140NPC1p.Val1165MetVAR_043291rs748862167
141NPC1p.Cys1168TyrVAR_043292
142NPC1p.Ala1174ValVAR_043293rs780175800
143NPC1p.Glu1189GlyVAR_043294rs369098773
144NPC1p.Thr1205LysVAR_043295rs758902805
145NPC1p.Thr1205ArgVAR_043296
146NPC1p.Val1212LeuVAR_043297rs753419933
147NPC1p.Ala1216ValVAR_043298
148NPC1p.Phe1224LeuVAR_043299
149NPC1p.Gly1236GluVAR_043300rs761653115
150NPC1p.Gly1240ArgVAR_043301rs745892286
151NPC1p.Ser1249GlyVAR_043302

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

5 (show all 88)
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)SNVPathogenicrs483352885GRCh38Chr 18, 23554809: 23554809
3NPC1NM_000271.4(NPC1): c.1553G> A (p.Arg518Gln)SNVLikely pathogenic, Pathogenicrs483352886GRCh38Chr 18, 23554758: 23554758
4NPC1NM_000271.4(NPC1): c.1800delC (p.Ile601Phefs)deletionPathogenicrs483352879GRCh38Chr 18, 23545107: 23545107
5NPC1NM_000271.4(NPC1): c.1832A> G (p.Asp611Gly)SNVPathogenicrs483352887GRCh38Chr 18, 23545075: 23545075
6NPC1NM_000271.4(NPC1): c.2054T> C (p.Ile685Thr)SNVPathogenicrs483352888GRCh38Chr 18, 23544420: 23544420
7NPC1NM_000271.4(NPC1): c.2128C> T (p.Gln710Ter)SNVPathogenicrs483352889GRCh38Chr 18, 23544346: 23544346
8NPC1NM_000271.4(NPC1): c.2177G> C (p.Arg726Thr)SNVPathogenicrs483352890GRCh38Chr 18, 23543523: 23543523
9NPC1NM_000271.4(NPC1): c.2230_2231delGT (p.Val744Serfs)deletionLikely pathogenic, Pathogenicrs483352882GRCh38Chr 18, 23543469: 23543470
10NPC1NM_000271.4(NPC1): c.2302dupG (p.Val768Glyfs)duplicationPathogenicrs483352881GRCh38Chr 18, 23541377: 23541377
11NPC1NM_000271.4(NPC1): c.2366G> A (p.Arg789His)SNVPathogenicrs483352891GRCh38Chr 18, 23541313: 23541313
12NPC1NM_000271.4(NPC1): c.2795dupA (p.Tyr932Terfs)duplicationPathogenicrs483352884GRCh38Chr 18, 23539811: 23539811
13NPC1NM_000271.4(NPC1): c.2912-3C> GSNVPathogenicrs483352892GRCh38Chr 18, 23538674: 23538674
14NPC1NM_000271.4(NPC1): c.416dupC (p.Asn140Lysfs)duplicationPathogenicrs483352880GRCh38Chr 18, 23568870: 23568870
15NPC1NM_000271.4(NPC1): c.1628C> T (p.Pro543Leu)SNVLikely pathogenic, Pathogenicrs369368181GRCh38Chr 18, 23551653: 23551653
16NPC1NM_000271.4(NPC1): c.2777C> T (p.Ala926Val)SNVPathogenicrs730880963GRCh38Chr 18, 23539829: 23539829
17NPC1NM_000271.4(NPC1): c.2861C> T (p.Ser954Leu)SNVLikely pathogenic, Pathogenicrs543206298GRCh38Chr 18, 23539405: 23539405
18NPC1NM_000271.4(NPC1): c.3265G> A (p.Glu1089Lys)SNVPathogenicrs374526072GRCh37Chr 18, 21115645: 21115645
19NPC1NM_000271.4(NPC1): c.3505A> C (p.Ser1169Arg)SNVLikely pathogenicrs730880964GRCh38Chr 18, 23534532: 23534532
20NPC1NM_000271.4(NPC1): c.2819C> T (p.Ser940Leu)SNVLikely pathogenicrs143124972GRCh37Chr 18, 21119411: 21119411
21NPC1NM_000271.4(NPC1): c.3614C> A (p.Thr1205Lys)SNVLikely pathogenic, Pathogenicrs758902805GRCh38Chr 18, 23533495: 23533495
22NPC1NM_000271.4(NPC1): c.3175C> T (p.Arg1059Ter)SNVLikely pathogenicrs786204455GRCh38Chr 18, 23536743: 23536743
23NPC1NM_000271.4(NPC1): c.1211G> A (p.Arg404Gln)SNVLikely pathogenic, Pathogenicrs139751448GRCh37Chr 18, 21136322: 21136322
24NPC1NM_000271.4(NPC1): c.2761C> T (p.Gln921Ter)SNVLikely pathogenicrs786204512GRCh37Chr 18, 21119809: 21119809
25NPC1NM_000271.4(NPC1): c.2972_2973delAG (p.Gln991Argfs)deletionLikely pathogenicrs756815030GRCh37Chr 18, 21118574: 21118575
26NPC1NM_000271.4(NPC1): c.2893C> T (p.Gln965Ter)SNVLikely pathogenicrs786204586GRCh37Chr 18, 21119337: 21119337
27NPC1NM_000271.4(NPC1): c.2764C> T (p.Gln922Ter)SNVLikely pathogenicrs786204641GRCh38Chr 18, 23539842: 23539842
28NPC1NM_000271.4(NPC1): c.2801G> A (p.Arg934Gln)SNVLikely pathogenicrs786204714GRCh38Chr 18, 23539465: 23539465
29NPC1NM_000271.4(NPC1): c.3557G> A (p.Arg1186His)SNVLikely pathogenicrs200444084GRCh38Chr 18, 23534480: 23534480
30NPC1NM_000271.4(NPC1): c.1947+2T> GSNVLikely pathogenicrs764472245GRCh38Chr 18, 23544958: 23544958
31NPC1NM_000271.4(NPC1): c.2621A> T (p.Asp874Val)SNVPathogenicrs372030650GRCh37Chr 18, 21119949: 21119949
32NPC1NM_000271.4(NPC1): c.1142G> A (p.Trp381Ter)SNVLikely pathogenic, Pathogenicrs794727897GRCh37Chr 18, 21136391: 21136391
33NPC1NM_000271.4(NPC1): c.2324A> C (p.Gln775Pro)SNVPathogenicrs80358253GRCh37Chr 18, 21121319: 21121319
34NPC1NM_000271.4(NPC1): c.2974G> A (p.Gly992Arg)SNVLikely pathogenic, Pathogenicrs80358254GRCh37Chr 18, 21118573: 21118573
35NPC1NM_000271.4(NPC1): c.3160G> A (p.Ala1054Thr)SNVPathogenicrs80358258GRCh37Chr 18, 21116722: 21116722
36NPC2NM_006432.3(NPC2): c.332delA (p.Asn111Ilefs)deletionPathogenicrs80358265GRCh37Chr 14, 74951149: 74951149
37NPC1NM_000271.4(NPC1): c.3127A> G (p.Thr1043Ala)SNVPathogenicrs876661319GRCh38Chr 18, 23536791: 23536791
38NPC1NM_000271.4(NPC1): c.3573_3574insACTT (p.Ala1192Thrfs)insertionPathogenicrs750323164GRCh37Chr 18, 21114427: 21114428
39NPC1NM_000271.4(NPC1): c.3246-2A> GSNVPathogenicrs886042268GRCh37Chr 18, 21115666: 21115666
40NPC1NM_000271.4(NPC1): c.1920delG (p.His641Thrfs)deletionLikely pathogenic, Pathogenicrs886042270GRCh37Chr 18, 21124951: 21124951
41NPC1NM_000271.4(NPC1): c.67delC (p.Gln23Serfs)deletionPathogenicrs886043131GRCh37Chr 18, 21153529: 21153529
42NPC1NM_000271.4(NPC1): c.3671T> G (p.Phe1224Cys)SNVLikely pathogenicrs886043744GRCh37Chr 18, 21113402: 21113402
43NPC1NM_000271.4(NPC1): c.2872C> T (p.Arg958Ter)SNVPathogenicrs759826138GRCh37Chr 18, 21119358: 21119358
44NPC1NM_000271.4(NPC1): c.1065delC (p.Phe356Serfs)deletionPathogenicrs886043871GRCh38Chr 18, 23556504: 23556504
45NPC1NM_000271.4(NPC1): c.3229C> T (p.Arg1077Ter)SNVPathogenicrs750095738GRCh37Chr 18, 21116653: 21116653
46NPC1NM_000271.4(NPC1): c.974_975insGA (p.Asp325Glufs)insertionPathogenicrs886044580GRCh37Chr 18, 21136558: 21136559
47NPC1NM_000271.4(NPC1): c.2783A> C (p.Gln928Pro)SNVPathogenicrs28940897GRCh37Chr 18, 21119787: 21119787
48NPC1NM_000271.4(NPC1): c.3107C> T (p.Thr1036Met)SNVLikely pathogenic, Pathogenicrs28942104GRCh37Chr 18, 21116775: 21116775
49NPC1NM_000271.4(NPC1): c.3467A> G (p.Asn1156Ser)SNVPathogenicrs28942105GRCh37Chr 18, 21115443: 21115443
50NPC1NM_000271.4(NPC1): c.2974G> T (p.Gly992Trp)SNVPathogenicrs80358254GRCh37Chr 18, 21118573: 21118573
51NPC1NPC1, 1553G-ASNVPathogenicChr na, -1: -1
52NPC1NM_000271.4(NPC1): c.3019C> G (p.Pro1007Ala)SNVPathogenicrs80358257GRCh37Chr 18, 21118528: 21118528
53NPC1NM_000271.4(NPC1): c.3182T> C (p.Ile1061Thr)SNVPathogenicrs80358259GRCh37Chr 18, 21116700: 21116700
54NPC1NM_000271.4(NPC1): c.2873G> A (p.Arg958Gln)SNVPathogenicrs120074132GRCh37Chr 18, 21119357: 21119357
55NPC1NM_000271.4(NPC1): c.2974G> C (p.Gly992Arg)SNVLikely pathogenic, Pathogenicrs80358254GRCh37Chr 18, 21118573: 21118573
56NPC1NM_000271.4(NPC1): c.1133T> C (p.Val378Ala)SNVPathogenicrs120074134GRCh37Chr 18, 21136400: 21136400
57NPC1NM_000271.4(NPC1): c.2848G> A (p.Val950Met)SNVLikely pathogenic, Pathogenicrs120074135GRCh37Chr 18, 21119382: 21119382
58NPC1NM_000271.4(NPC1): c.3104C> T (p.Ala1035Val)SNVLikely pathogenic, Pathogenicrs28942107GRCh37Chr 18, 21116778: 21116778
59NPC1NM_000271.4(NPC1): c.3591+1G> ASNVLikely pathogenic, Pathogenicrs786200877GRCh38Chr 18, 23534445: 23534445
60NPC1NM_000271.4(NPC1): c.530G> A (p.Cys177Tyr)SNVLikely pathogenic, Pathogenicrs80358252GRCh37Chr 18, 21141425: 21141425
61NPC1NPC1, IVS16, G-A, -82SNVPathogenicChr na, -1: -1
62NPC1NM_000271.4(NPC1): c.2932C> T (p.Arg978Cys)SNVLikely pathogenic, Pathogenicrs28942108GRCh37Chr 18, 21118615: 21118615
63NPC1NM_000271.4(NPC1): c.3662delT (p.Phe1221Serfs)deletionPathogenicrs786200878GRCh38Chr 18, 23533447: 23533447
64NPC1NM_000271.4(NPC1): c.337T> C (p.Cys113Arg)SNVPathogenicrs120074136GRCh37Chr 18, 21148913: 21148913
65NPC1NM_000271.4(NPC1): c.3611_3614delTTAC (p.Leu1204Glnfs)deletionPathogenicrs786200879GRCh38Chr 18, 23533495: 23533498
66NPC1NM_000271.4: c.629delCdeletionLikely pathogenicChr na, -1: -1
67NPC1NM_000271.4: c.352_353delAGdeletionPathogenicChr na, -1: -1
68NPC1NM_000271.4: c.2474A> GSNVLikely pathogenicChr na, -1: -1
69NPC1NM_000271.4: c.395delCdeletionLikely pathogenicChr na, -1: -1
70NPC1NM_000271.4: c.956-1G> ASNVLikely pathogenicChr na, -1: -1
71NPC1NM_000271.4: c.2775delCdeletionLikely pathogenicChr na, -1: -1
72NPC1NM_000271.4: c.1990G> ASNVLikely pathogenicChr na, -1: -1
73NPC1NM_000271.4: c.3417_3423del7deletionLikely pathogenicChr na, -1: -1
74NPC1NM_000271.4: c.433C> TSNVLikely pathogenicChr na, -1: -1
75NPC1NM_000271.4: c.500C> GSNVLikely pathogenicChr na, -1: -1
76NPC1NM_000271.4: c.1327-1G> CSNVLikely pathogenicChr na, -1: -1
77NPC1NM_000271.4: c.1033_1034delTTdeletionLikely pathogenicChr na, -1: -1
78NPC1NM_000271.4: c.3566A> GSNVLikely pathogenicChr na, -1: -1
79NPC1NM_000271.4: c.1A> GSNVLikely pathogenicChr na, -1: -1
80NPC1NM_000271.4: c.852delTdeletionPathogenicChr na, -1: -1
81NPC1NM_000271.4: c.1339C> TSNVLikely pathogenicChr na, -1: -1
82NPC1NM_000271.4: c.3325delAdeletionLikely pathogenicChr na, -1: -1
83NPC1NM_000271.4: c.397delGdeletionLikely pathogenicChr na, -1: -1
84NPC1NM_000271.4: c.3309dupTduplicationLikely pathogenicChr na, -1: -1
85NPC1NM_000271.4: c.1761delTdeletionLikely pathogenicChr na, -1: -1
86NPC1NM_000271.4: c.3056A> GSNVLikely pathogenicChr na, -1: -1
87NPC1NM_000271.4: c.1711delTdeletionLikely pathogenicChr na, -1: -1
88NPC1NM_000271.4(NPC1): c.2196dupT (p.Pro733Serfs)duplicationPathogenicrs398123284GRCh37Chr 18, 21123468: 21123468

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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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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endosomeGO:00057689.7APP, NPC1, SMPD1
2postsynapseGO:00987949.6HCRT, SNCA
3membrane raftGO:00451219.5ABCA1, APP, NPC1
4rough endoplasmic reticulumGO:00057919.3APP, HCRT, SNCA
5lysosomeGO:00057649.1NPC1, NPC2, SMPD1, SNCA
6growth coneGO:00304268.6APP, MAPT, SNCA
7perinuclear region of cytoplasmGO:00484717.9ABCA1, APOD, APP, HCRT, NPC1, SNCA
8extracellular regionGO:00055767.9APOD, APP, HCRT, NPC1, PSAP, SNCA
9plasma membraneGO:00058866.7ABCA1, APP, ASAH2, MAPT, NPC1, NPC1L1

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1intracellular cholesterol transportGO:003236710.3ABCA1, NPC2
2phospholipid transportGO:001591410.3ABCA1, NPC2
3glycosphingolipid metabolic processGO:000668710.2PSAP, SMPD1
4lipoprotein metabolic processGO:004215710.2ABCA1, NPC1L1
5cholesterol effluxGO:003334410.1ABCA1, NPC1, NPC2
6axo-dendritic transportGO:00080889.9APP, MAPT
7negative regulation of platelet-derived growth factor receptor signaling pathwayGO:00106429.9APOD, SNCA
8cholesterol homeostasisGO:00426329.9ABCA1, NPC1, NPC2
9cholesterol transportGO:00303019.7ABCA1, NPC1, NPC1L1, NPC2
10regulation of neurotransmitter secretionGO:00469289.7HCRT, SNCA
11excitatory postsynaptic potentialGO:00600799.5HCRT, SNCA
12adult walking behaviorGO:00076289.5MAPT, NPC1
13cholesterol metabolic processGO:00082039.3ABCA1, APP, NPC1, NPC2
14response to cocaineGO:00422209.0SMPD1, SNCA
15response to drugGO:00424938.0ABCA1, APOD, NPC1, NPC1L1, SMPD1, SNCA

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

idNameGO IDScoreTop Affiliating Genes
1apolipoprotein bindingGO:00341859.9ABCA1, MAPT
2cholesterol bindingGO:00154859.5ABCA1, APOD, NPC1, NPC2
3enzyme bindingGO:00198998.2APP, MAPT, NPC2, SNCA

Sources for Niemann-Pick Disease, Type C1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet