NPC1
MCID: NMN015
MIFTS: 63

Niemann-Pick Disease, Type C1 (NPC1) 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 52 12 35 68
Niemann-Pick Disease Type D 48 24 70 27
Niemann-Pick Disease, Type C 48 27 68
Niemann-Pick Disease Type C1 35 48 24
Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia 48 70
Niemann-Pick Disease with Cholesterol Esterification Block 48 70
Niemann-Pick Disease Without Sphingomyelinase Deficiency 48 70
Niemann-Pick Disease, Type D 52 68
Niemann-Pick Disease C1 70 27
Npc1 48 70
Niemann-Pick Disease, Chronic Neuronopathic Form 48
 
Niemann-Pick Disease Chronic Neuronopathic Form 70
Niemann-Pick Disease, Subacute Juvenile Form 48
Niemann-Pick Disease Subacute Juvenile Form 70
Nova Scotia Form of Niemann-Pick Disease 48
Niemann-Pick Disease, Nova Scotian Type 48
Niemann-Pick Disease, Nova Scotia Type 24
Niemann-Pick Disease Nova Scotian Type 70
Nova Scotia Niemann-Pick Disease 48
Niemann-Pick Disease Type Ii 70
Niemann-Picks Disease Type C 50
Npc 70

Characteristics:

HPO:

64
niemann-pick disease, type c1:
Inheritance: autosomal recessive inheritance, heterogeneous
Onset and clinical course: onset, phenotypic variability

Classifications:



Summaries for Niemann-Pick Disease, Type C1

About this section
OMIM:52 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, severe perinatal form, and has symptoms including cerebellar ataxia, cerebellar ataxia and muscle spasticity. 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 and bone marrow, and related mouse phenotypes are liver/biliary system and respiratory system.

UniProtKB/Swiss-Prot:70 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 onset12.3
2niemann-pick disease type c, severe perinatal form12.2
3niemann-pick disease type c, late infantile neurologic onset12.2
4niemann-pick disease type c, severe early infantile neurologic onset12.2
5niemann-pick disease type c, adult neurologic onset12.2
6nasopharyngeal carcinoma11.5
7pick disease10.8
8niemann-pick disease10.8
9niemann-pick disease, type c210.8
10nasopharyngitis10.3
11neuronitis10.3
12pouchitis10.3NPC1, NPC2
135-fluorouracil poisoning10.3NPC1, NPC2
14neuroendocrine cell hyperplasia of infancy10.3NPC1, NPC2
15pulmonary interstitial glycogenosis10.3NPC1, NPC2
16atypical coarctation of aorta10.3NPC1, NPC2
17autosomal dominant tubulointerstitial kidney disease, ren-related10.3NPC1, SMPD1
18tinea favosa10.2NPC1, NPC2, SMPD1
19lumbar spinal canal and spinal cord meningioma10.1NPC1, NPC2, SMPD1
20lockwood feingold syndrome10.1ASAH2, PSAP
21leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism10.1PSAP, SMPD1
22crohn's disease10.1
23leukemia10.1
24lymphoblastic leukemia10.1
25mononeuritis of lower limb10.0NPC1, NPC2, PSAP, SMPD1
26mitochondrial dna depletion syndrome 14, cardioencephalomyopathic type10.0APP, MAPT
27intracranial structure hemangioma10.0APP, MAPT
28hemangioblastoma9.9HCRT, SNCA
29lower gum cancer9.9HCRT, SNCA
30spink1-related hereditary pancreatitis9.9MAPT, SNCA
31deafness, autosomal recessive 1019.9MAPT, SNCA
3247,xyy syndrome9.8ASAH2, NPC1, NPC2, PSAP, SMPD1
33dysostosis9.8ASAH2, NPC1, NPC2, PSAP, SMPD1
34riedel's fibrosing thyroiditis9.8MAPT, SNCA
35bone dysplasia azouz type9.8APP, MAPT
36benign partial epilepsy with secondarily generalized seizures in infancy9.8MAPT, SNCA
37osteochondrosis9.8APOD, NPC1, NPC1L1, NPC2, PSAP, SMPD1
38cyprus facial neuromusculoskeletal syndrome9.8MAPT, SNCA
39juvenile amyotrophic lateral sclerosis with dementia9.7APP, MAPT, SNCA
40hypoproteinemia, hypercatabolic9.7APP, MAPT, SNCA
41meier-gorlin syndrome 59.7APP, MAPT, SNCA
42personality disorder9.7HCRT, MAPT, SNCA
43coenzyme q10 deficiency, primary, 19.7APP, MAPT, SNCA
44gallbladder adenoma9.7APP, MAPT, SNCA
45cardiomyopathy, dilated, 1u9.7APP, MAPT, SNCA
46eumycotic mycetoma9.7APP, MAPT, SNCA
47substance-induced psychosis9.7APP, MAPT, SNCA
48epithelioid type angiomyolipoma9.6APP, HCRT, MAPT, SNCA
49acne inversa, familial, 39.5MAPT, NPC1, NPC1L1, NPC2, SMPD1, SNCA
50atrial septal defect 98.5ABCA1, 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 & Phenotypes 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:

 64 (show all 26)
id Description HPO Frequency HPO Source Accession
1 vertical supranuclear gaze palsy64 HP:0000511
2 psychosis64 HP:0000709
3 dementia64 HP:0000726
4 intellectual disability64 HP:0001249
5 seizures64 HP:0001250
6 ataxia64 HP:0001251
7 muscular hypotonia64 HP:0001252
8 spasticity64 HP:0001257
9 dysarthria64 HP:0001260
10 global developmental delay64 HP:0001263
11 dystonia64 HP:0001332
12 splenomegaly64 HP:0001744
13 fetal ascites64 HP:0001791
14 sea-blue histiocytosis64 HP:0001982
15 dysphagia64 HP:0002015
16 neurofibrillary tangles64 HP:0002185
17 hepatomegaly64 HP:0002240
18 loss of speech64 HP:0002371
19 cataplexy64 HP:0002524
20 neuronal loss in central nervous system64 HP:0002529
21 low cholesterol esterification rates64 HP:0003349
22 abnormal cholesterol homeostasis64 HP:0003464
23 foam cells in visceral organs and cns64 HP:0003640
24 bone-marrow foam cells64 HP:0004333
25 prolonged neonatal jaundice64 HP:0006579
26 fatal liver failure in infancy64 HP:0006583

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


cerebellar ataxia, muscle spasticity, seizures

MGI Mouse Phenotypes related to Niemann-Pick Disease, Type C1 according to GeneCards Suite gene sharing:

41 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.4ABCA1, NPC1, NPC1L1, NPC2, PSAP, SMPD1
2MP:00053889.0ABCA1, HCRT, NPC1, NPC2, PSAP, SMPD1
3MP:00053948.8MAPT, NPC1, SNCA
4MP:00053857.8ABCA1, APOD, HCRT, MAPT, NPC1, NPC2
5MP:00053847.7ABCA1, APP, MAPT, NPC1, NPC2, PSAP
6MP:00053877.7ABCA1, APP, MAPT, NPC1, NPC2, PSAP
7MP:00053867.3APOD, APP, HCRT, MAPT, NPC1, NPC2
8MP:00107687.3ABCA1, APOD, APP, MAPT, NPC1, NPC2
9MP:00053787.0ABCA1, APP, HCRT, MAPT, NPC1, NPC1L1
10MP:00036316.8ABCA1, APOD, APP, HCRT, MAPT, NPC1
11MP:00053766.1ABCA1, APOD, APP, ASAH2, HCRT, MAPT

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 1279163222-33-1150311
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 12766
3Hypolipidemic AgentsPhase 4, Phase 3, Phase 12785
4Anticholesteremic AgentsPhase 4, Phase 3, Phase 12025
5AntimetabolitesPhase 4, Phase 3, Phase 1, Phase 212054
6Liver ExtractsPhase 4, Phase 2, Phase 34067
7
Prednisoloneapproved, vet_approvedPhase 2, Phase 3119350-24-85755
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 354555-98-12478
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 3119383-43-26741
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 3293550-18-0, 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 31193
14Immunosuppressive AgentsPhase 2, Phase 3, Phase 113086
15Prednisolone phosphatePhase 2, Phase 31193
16Insulin, Globin ZincPhase 34645
17Prednisolone hemisuccinatePhase 2, Phase 31193
18Prednisolone acetatePhase 2, Phase 31193
19Methylprednisolone HemisuccinatePhase 2, Phase 31193
20insulinPhase 34646
21Antiviral AgentsPhase 3, Phase 1, Phase 29967
22Anti-Retroviral AgentsPhase 3, Phase 2, Phase 13296
23Anti-Infective AgentsPhase 3, Phase 1, Phase 222062
24Antirheumatic AgentsPhase 2, Phase 310956
25Cardiac GlycosidesPhase 3, Phase 2, Phase 1148
26Anti-HIV AgentsPhase 3, Phase 2, Phase 13162
27Glycoside Hydrolase InhibitorsPhase 3, Phase 2, Phase 1128
28Antineoplastic Agents, AlkylatingPhase 2, Phase 34603
29Antilymphocyte SerumPhase 2, Phase 3408
30Alkylating AgentsPhase 2, Phase 34827
31Hypoglycemic AgentsPhase 3, Phase 2, Phase 15896
32Pharmaceutical SolutionsPhase 2, Phase 3, Phase 18192
33
Acetylcysteineapproved, investigationalPhase 1, Phase 2330616-91-112035
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-acetylcysteine
L-α-acetamido-β-mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetyl-L-(+)-cysteine
N-acetyl-L-cysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
34
PancrelipaseapprovedPhase 1, Phase 297053608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
35
Vorinostatapproved, investigationalPhase 1, Phase 2247149647-78-95311
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
36
GemcitabineapprovedPhase 1, Phase 2201895058-81-460750
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
37
Paclitaxelapproved, vet_approvedPhase 1, Phase 2286433069-62-436314
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
38
alemtuzumabapproved, investigationalPhase 2310216503-57-0
Synonyms:
Campath
 
MabCampath
alemtuzumab
39ImmunoglobulinsPhase 1, Phase 26394
40pancreatinPhase 1, Phase 2970
41Antibodies, MonoclonalPhase 1, Phase 24039
42
BetadexPhase 1, Phase 2207585-39-9320761
Synonyms:
Betadex, INN, USAN
Cyclo-hepta-amylose
Cycloheptaamylose
Cycloheptaglucan
Cycloheptaglucosan
Cycloheptakis-(1->4)-(a-D-glucopyranose)
Cycloheptamaltose
 
Cycloheptapentylose
Cyclomaltoheptaose
E459
b-Schardinger dextran
beta -cycloamylose
beta -cyclodextrin
beta -cycloheptaamylose
beta Cyclodextrin, USAN
beta-Cyclodextrin
43N-monoacetylcystinePhase 1, Phase 2330
44AntidotesPhase 1, Phase 21071
45AntioxidantsPhase 1, Phase 23050
46AntibodiesPhase 1, Phase 26394
47ExpectorantsPhase 1, Phase 2404
48Protective AgentsPhase 1, Phase 27443
49Histone Deacetylase InhibitorsPhase 1, Phase 2569
50Respiratory System AgentsPhase 1, Phase 24997

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
6Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase DeficiencyRecruitingNCT02004691Phase 2, Phase 3
7Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type CActive, not recruitingNCT02612129Phase 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
15QUILT-3.019: Phase 2 Study of NPC-1C Chimeric Monoclonal Antibody to Treat Pancreatic and Colorectal CancerCompletedNCT01040000Phase 1, Phase 2
16Study of Pharmacokinetics and Preliminary Efficacy in Patients With Niemann-Pick C1RecruitingNCT02912793Phase 1, Phase 2
17Safety, 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
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-3.010: A Study of Gemcitabine and Nab-paclitaxel With or Without NPC-1C to Treat Patients With Pancreatic CancerActive, not recruitingNCT01834235Phase 1, Phase 2
21A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase DeficiencyEnrolling by invitationNCT02004704Phase 2
22Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of MetabolismTerminatedNCT00668564Phase 2
23Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 DiseaseCompletedNCT01747135Phase 1
24Tolerability and Safety Study of Recombinant Human Acid Sphingomyelinase in Acid Sphingomyelinase Deficiency PatientsCompletedNCT01722526Phase 1
25Saccadic Eye Movements in Patients With Niemann-Pick Type C DiseaseCompletedNCT00316498Phase 1
26Study of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1)RecruitingNCT02939547Phase 1
27UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like CellsRecruitingNCT02254863Phase 1
28Human Placental-Derived Stem Cell TransplantationRecruitingNCT01586455Phase 1
29Pilot Study of Ezetimibe for Chronic Hepatitis C Virus (HCV) InfectionRecruitingNCT02126137Phase 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
34A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type CCompletedNCT02435030
35PET Scan of Brain Metabolism in Relation to Age and DiseaseCompletedNCT00001972
36Impact of a Short-Term High Fat or Low Fat Diet on Intestinal Genes Expression Involved in the Cholesterol and Fatty Acid MetabolismCompletedNCT01806441
37Plant Stanols and Gene Expression ProfileCompletedNCT01574417
38Effects of N-3 Polyunsaturated Fatty Acids On Chylomicron Secretion And Expression Of Genes That Regulate Intestinal Lipid Metabolism In Men With Type 2 DiabetesCompletedNCT01449773
39Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type CRecruitingNCT00344331
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

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

id Genetic test Affiliating Genes
1 Niemann-Pick Disease, Type C27
2 Niemann-Pick Disease Type C127 24 NPC1
3 Niemann-Pick Disease, Type D27

Anatomical Context for Niemann-Pick Disease, Type C1

About this section

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

36
Liver, Bone, Bone marrow, Olfactory bulb, Lung, Adipocyte, Cerebellum

Publications for Niemann-Pick Disease, Type C1

About this section

Articles related to Niemann-Pick Disease, Type C1:

(show all 33)
idTitleAuthorsYear
1
Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1. (28414792)
2017
2
Dataset in support of the generation of Niemann-Pick disease Type C1 patient-specific iPS cell lines carrying the novel NPC1 mutation c.1180T>C or the prevalent c.3182T>C mutation - Analysis of pluripotency and neuronal differentiation. (28413817)
2017
3
Increased Regenerative Capacity of the Olfactory Epithelium in Niemann-Pick Disease Type C1. (28383485)
2017
4
Phenanthridin-6-one derivatives as the first class of non-steroidal pharmacological chaperones for Niemann-Pick disease type C1 protein. (28465104)
2017
5
Association of NPC1 variant p.P237S with a pathogenic splice variant in two Niemann-Pick disease type C1 patients. (28328115)
2017
6
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
7
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
8
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
9
Necroptosis in Niemann-Pick disease, type C1: a potential therapeutic target. (26986514)
2016
10
Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1. (27798114)
2016
11
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
12
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. (25764212)
2015
13
Misexpression of the Niemann-Pick disease type C1 (NPC1)-like protein in Arabidopsis causes sphingolipid accumulation and reproductive defects. (26007685)
2015
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
Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1. (24235134)
2014
17
Improved neuroprotection using miglustat, curcumin and ibuprofen as a triple combination therapy in Niemann-Pick disease type C1 mice. (24631719)
2014
18
Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1. (23653225)
2014
19
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
20
Corpus Callosum Diffusion Tensor Imaging and Volume Measures Are Associated With Disease Severity in Pediatric Niemann-Pick Disease Type C1. (25194719)
2014
21
Niemann-Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: An autopsy case. (23711246)
2014
22
NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish. (23010472)
2013
23
Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1. (23666527)
2013
24
Altered transition metal homeostasis in Niemann-Pick disease, type C1. (24343124)
2013
25
Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight. (23144710)
2012
26
Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1. (22619379)
2012
27
Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1. (23023945)
2012
28
Morphological alterations of the cornea in the mouse model of niemann-pick disease type c1. (21317782)
2011
29
Niemann-Pick disease type C1 presenting with psychosis in an adolescent male. (19267177)
2009
30
Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1. (19632328)
2009
31
Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. (18953351)
2008
32
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
33
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:

70 (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 84)
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)SNVPathogenic/ Likely 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)deletionPathogenic/ Likely 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 pathogenicrs369368181GRCh38Chr 18, 23551653: 23551653
16NPC1NM_ 000271.4(NPC1): c.2861C> T (p.Ser954Leu)SNVPathogenic/ Likely pathogenicrs543206298GRCh38Chr 18, 23539405: 23539405
17NPC1NM_ 000271.4(NPC1): c.2819C> T (p.Ser940Leu)SNVLikely pathogenicrs143124972GRCh37Chr 18, 21119411: 21119411
18NPC1NM_ 000271.4(NPC1): c.3614C> A (p.Thr1205Lys)SNVPathogenic/ Likely pathogenicrs758902805GRCh38Chr 18, 23533495: 23533495
19NPC1NM_ 000271.4(NPC1): c.3175C> T (p.Arg1059Ter)SNVPathogenic/ Likely pathogenicrs786204455GRCh38Chr 18, 23536743: 23536743
20NPC1NM_ 000271.4(NPC1): c.1211G> A (p.Arg404Gln)SNVPathogenic/ Likely pathogenicrs139751448GRCh37Chr 18, 21136322: 21136322
21NPC1NM_ 000271.4(NPC1): c.2761C> T (p.Gln921Ter)SNVLikely pathogenicrs786204512GRCh37Chr 18, 21119809: 21119809
22NPC1NM_ 000271.4(NPC1): c.2893C> T (p.Gln965Ter)SNVLikely pathogenicrs786204586GRCh37Chr 18, 21119337: 21119337
23NPC1NM_ 000271.4(NPC1): c.2764C> T (p.Gln922Ter)SNVLikely pathogenicrs786204641GRCh38Chr 18, 23539842: 23539842
24NPC1NM_ 000271.4(NPC1): c.2801G> A (p.Arg934Gln)SNVLikely pathogenicrs786204714GRCh38Chr 18, 23539465: 23539465
25NPC1NM_ 000271.4(NPC1): c.3557G> A (p.Arg1186His)SNVPathogenic/ Likely pathogenicrs200444084GRCh38Chr 18, 23534480: 23534480
26NPC1NM_ 000271.4(NPC1): c.1947+2T> GSNVLikely pathogenicrs764472245GRCh38Chr 18, 23544958: 23544958
27NPC1NM_ 000271.4(NPC1): c.2621A> T (p.Asp874Val)SNVPathogenicrs372030650GRCh37Chr 18, 21119949: 21119949
28NPC1NM_ 000271.4(NPC1): c.1142G> A (p.Trp381Ter)SNVPathogenic/ Likely pathogenicrs794727897GRCh37Chr 18, 21136391: 21136391
29NPC1NM_ 000271.4(NPC1): c.2324A> C (p.Gln775Pro)SNVPathogenicrs80358253GRCh37Chr 18, 21121319: 21121319
30NPC1NM_ 000271.4(NPC1): c.2974G> A (p.Gly992Arg)SNVPathogenic/ Likely pathogenicrs80358254GRCh37Chr 18, 21118573: 21118573
31NPC1NM_ 000271.4(NPC1): c.3160G> A (p.Ala1054Thr)SNVPathogenicrs80358258GRCh37Chr 18, 21116722: 21116722
32NPC1NM_ 000271.4(NPC1): c.3127A> G (p.Thr1043Ala)SNVPathogenicrs876661319GRCh38Chr 18, 23536791: 23536791
33NPC1NM_ 000271.4(NPC1): c.3573_ 3574insACTT (p.Ala1192Thrfs)insertionPathogenicrs750323164GRCh37Chr 18, 21114427: 21114428
34NPC1NM_ 000271.4(NPC1): c.3246-2A> GSNVPathogenicrs886042268GRCh37Chr 18, 21115666: 21115666
35NPC1NM_ 000271.4(NPC1): c.1920delG (p.His641Thrfs)deletionPathogenic/ Likely pathogenicrs886042270GRCh37Chr 18, 21124951: 21124951
36NPC1NM_ 000271.4(NPC1): c.67delC (p.Gln23Serfs)deletionPathogenicrs886043131GRCh37Chr 18, 21153529: 21153529
37NPC1NM_ 000271.4(NPC1): c.3671T> G (p.Phe1224Cys)SNVLikely pathogenicrs886043744GRCh37Chr 18, 21113402: 21113402
38NPC1NM_ 000271.4(NPC1): c.2872C> T (p.Arg958Ter)SNVPathogenicrs759826138GRCh37Chr 18, 21119358: 21119358
39NPC1NM_ 000271.4(NPC1): c.1065delC (p.Phe356Serfs)deletionPathogenicrs886043871GRCh38Chr 18, 23556504: 23556504
40NPC1NM_ 000271.4(NPC1): c.3229C> T (p.Arg1077Ter)SNVPathogenicrs750095738GRCh37Chr 18, 21116653: 21116653
41NPC1NM_ 000271.4(NPC1): c.974_ 975insGA (p.Asp325Glufs)insertionPathogenicrs886044580GRCh37Chr 18, 21136558: 21136559
42NPC1NM_ 000271.4(NPC1): c.2783A> C (p.Gln928Pro)SNVPathogenicrs28940897GRCh37Chr 18, 21119787: 21119787
43NPC1NM_ 000271.4(NPC1): c.3467A> G (p.Asn1156Ser)SNVPathogenicrs28942105GRCh37Chr 18, 21115443: 21115443
44NPC1NM_ 000271.4(NPC1): c.2974G> T (p.Gly992Trp)SNVPathogenicrs80358254GRCh37Chr 18, 21118573: 21118573
45NPC1NPC1, 1553G-ASNVPathogenic
46NPC1NM_ 000271.4(NPC1): c.3019C> G (p.Pro1007Ala)SNVPathogenicrs80358257GRCh37Chr 18, 21118528: 21118528
47NPC1NM_ 000271.4(NPC1): c.3182T> C (p.Ile1061Thr)SNVPathogenicrs80358259GRCh37Chr 18, 21116700: 21116700
48NPC1NM_ 000271.4(NPC1): c.2873G> A (p.Arg958Gln)SNVPathogenicrs120074132GRCh37Chr 18, 21119357: 21119357
49NPC1NM_ 000271.4(NPC1): c.2974G> C (p.Gly992Arg)SNVPathogenic/ Likely pathogenicrs80358254GRCh37Chr 18, 21118573: 21118573
50NPC1NM_ 000271.4(NPC1): c.1133T> C (p.Val378Ala)SNVPathogenicrs120074134GRCh37Chr 18, 21136400: 21136400
51NPC1NM_ 000271.4(NPC1): c.2848G> A (p.Val950Met)SNVPathogenic/ Likely pathogenicrs120074135GRCh37Chr 18, 21119382: 21119382
52NPC1NM_ 000271.4(NPC1): c.3104C> T (p.Ala1035Val)SNVPathogenic/ Likely pathogenicrs28942107GRCh37Chr 18, 21116778: 21116778
53NPC1NM_ 000271.4(NPC1): c.3591+1G> ASNVPathogenic/ Likely pathogenicrs786200877GRCh38Chr 18, 23534445: 23534445
54NPC1NM_ 000271.4(NPC1): c.530G> A (p.Cys177Tyr)SNVPathogenic/ Likely pathogenicrs80358252GRCh37Chr 18, 21141425: 21141425
55NPC1NPC1, IVS16, G-A, -82SNVPathogenic
56NPC1NM_ 000271.4(NPC1): c.2932C> T (p.Arg978Cys)SNVPathogenic/ Likely pathogenicrs28942108GRCh37Chr 18, 21118615: 21118615
57NPC1NM_ 000271.4(NPC1): c.3662delT (p.Phe1221Serfs)deletionPathogenicrs786200878GRCh38Chr 18, 23533447: 23533447
58NPC1NM_ 000271.4(NPC1): c.337T> C (p.Cys113Arg)SNVPathogenicrs120074136GRCh37Chr 18, 21148913: 21148913
59NPC1NM_ 000271.4(NPC1): c.3611_ 3614delTTAC (p.Leu1204Glnfs)deletionPathogenicrs786200879GRCh38Chr 18, 23533495: 23533498
60NPC1NM_ 000271.4(NPC1): c.629delC (p.Ser210Terfs)deletionLikely pathogenicrs1057516260GRCh37Chr 18, 21141326: 21141326
61NPC1NM_ 000271.4(NPC1): c.352_ 353delAG (p.Gln119Valfs)deletionPathogenicrs759075595GRCh38Chr 18, 23568933: 23568934
62NPC1NM_ 000271.4(NPC1): c.2474A> G (p.Tyr825Cys)SNVLikely pathogenicrs550562774GRCh37Chr 18, 21121072: 21121072
63NPC1NM_ 000271.4(NPC1): c.395delC (p.Pro132Leufs)deletionLikely pathogenicrs1057516462GRCh37Chr 18, 21148855: 21148855
64NPC1NM_ 000271.4(NPC1): c.956-1G> ASNVLikely pathogenicrs756853895GRCh37Chr 18, 21136578: 21136578
65NPC1NM_ 000271.4(NPC1): c.2775delC (p.Asn925Lysfs)deletionLikely pathogenicrs1057516603GRCh38Chr 18, 23539831: 23539831
66NPC1NM_ 000271.4(NPC1): c.1990G> A (p.Val664Met)SNVLikely pathogenicrs376213990GRCh38Chr 18, 23544484: 23544484
67NPC1NM_ 000271.4(NPC1): c.3417_ 3423delTGGAGTT (p.Phe1139Leufs)deletionLikely pathogenicrs1057516647GRCh38Chr 18, 23535523: 23535529
68NPC1NM_ 000271.4(NPC1): c.433C> T (p.Gln145Ter)SNVLikely pathogenicrs1057516749GRCh38Chr 18, 23568853: 23568853
69NPC1NM_ 000271.4(NPC1): c.500C> G (p.Ser167Ter)SNVLikely pathogenicrs752409181GRCh37Chr 18, 21141455: 21141455
70NPC1NM_ 000271.4(NPC1): c.1327-1G> CSNVLikely pathogenicrs1057516813GRCh37Chr 18, 21134949: 21134949
71NPC1NM_ 000271.4(NPC1): c.1033_ 1034delTT (p.Phe345Leufs)deletionLikely pathogenicrs1057516950GRCh37Chr 18, 21136499: 21136500
72NPC1NM_ 000271.4(NPC1): c.3566A> G (p.Glu1189Gly)SNVLikely pathogenicrs369098773GRCh38Chr 18, 23534471: 23534471
73NPC1NM_ 000271.4(NPC1): c.1A> G (p.Met1Val)SNVLikely pathogenicrs1057517005GRCh38Chr 18, 23586343: 23586343
74NPC1NM_ 000271.4(NPC1): c.852delT (p.Phe284Leufs)deletionPathogenicrs1057517074GRCh37Chr 18, 21140224: 21140224
75NPC1NM_ 000271.4(NPC1): c.1339C> T (p.Gln447Ter)SNVLikely pathogenicrs1057517077GRCh38Chr 18, 23554972: 23554972
76NPC1NM_ 000271.4(NPC1): c.3325delA (p.Ile1109Tyrfs)deletionLikely pathogenicrs1057517149GRCh37Chr 18, 21115585: 21115585
77NPC1NM_ 000271.4(NPC1): c.397delG (p.Val133Leufs)deletionLikely pathogenicrs1057517186GRCh38Chr 18, 23568889: 23568889
78NPC1NM_ 000271.4(NPC1): c.3309dupT (p.Val1104Cysfs)duplicationLikely pathogenicrs1057517194GRCh38Chr 18, 23535637: 23535637
79NPC1NM_ 000271.4(NPC1): c.1761delT (p.Phe587Leufs)deletionLikely pathogenicrs1057517197GRCh38Chr 18, 23545146: 23545146
80NPC1NM_ 000271.4(NPC1): c.3056A> G (p.Tyr1019Cys)SNVLikely pathogenicrs781261962GRCh38Chr 18, 23536862: 23536862
81NPC1NM_ 000271.4(NPC1): c.1711delT (p.Tyr571Ilefs)deletionLikely pathogenicrs1057517455GRCh38Chr 18, 23548052: 23548052
82NPC1NM_ 000271.4(NPC1): c.839delT (p.Leu280Cysfs)deletionPathogenicrs1057518711GRCh38Chr 18, 23560273: 23560273
83NPC1NM_ 000271.4(NPC1): c.2713C> T (p.Gln905Ter)SNVLikely pathogenicrs917070773GRCh38Chr 18, 23539893: 23539893
84NPC1NM_ 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.

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
1lysosomal lumenGO:004320210.3NPC2, PSAP, SMPD1
2membrane raftGO:004512110.1ABCA1, APP, NPC1
3postsynapseGO:00987949.7HCRT, SNCA
4growth coneGO:00304269.3APP, MAPT, SNCA
5lysosomeGO:00057649.2NPC1, NPC2, PSAP, SMPD1, SNCA
6rough endoplasmic reticulumGO:00057918.7APP, HCRT, SNCA
7extracellular spaceGO:00056158.6APOD, APP, NPC2, PSAP, SMPD1, SNCA
8perinuclear region of cytoplasmGO:00484718.4ABCA1, APOD, APP, HCRT, NPC1, SNCA
9extracellular regionGO:00055767.9APOD, APP, HCRT, NPC1, NPC2, PSAP
10plasma membraneGO:00058866.9ABCA1, APP, ASAH2, MAPT, NPC1, NPC1L1

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1low-density lipoprotein particle clearanceGO:003438310.6NPC1, NPC2
2intracellular cholesterol transportGO:003236710.5ABCA1, NPC2
3phospholipid transportGO:001591410.4ABCA1, NPC2
4cholesterol effluxGO:003334410.2ABCA1, NPC1, NPC2
5cholesterol homeostasisGO:004263210.2ABCA1, NPC1, NPC2
6sphingolipid metabolic processGO:000666510.2ASAH2, PSAP
7amyloid fibril formationGO:199000010.1APP, MAPT
8response to cocaineGO:004222010.0SMPD1, SNCA
9negative regulation of platelet-derived growth factor receptor signaling pathwayGO:00106429.9APOD, SNCA
10cholesterol transportGO:00303019.9ABCA1, NPC1, NPC1L1, NPC2
11lipid transportGO:00068699.9APOD, NPC1, NPC1L1, PSAP
12regulation of neurotransmitter secretionGO:00469289.9HCRT, SNCA
13microglial cell activationGO:00017749.7MAPT, SNCA
14steroid metabolic processGO:00082029.7ABCA1, NPC1, NPC1L1, NPC2
15supramolecular fiber organizationGO:00974359.5MAPT, SNCA
16cholesterol metabolic processGO:00082039.4ABCA1, APP, NPC1, NPC1L1, NPC2
17lipid metabolic processGO:00066298.7ABCA1, APOD, ASAH2, NPC1, NPC1L1, NPC2
18response to drugGO:00424938.6ABCA1, APOD, NPC1, NPC1L1, SMPD1, SNCA
19synapse organizationGO:00508088.5APP, MAPT, SNCA

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

idNameGO IDScoreTop Affiliating Genes
1lipid transporter activityGO:000531910.3APOD, NPC1
2apolipoprotein bindingGO:003418510.1ABCA1, MAPT
3cholesterol bindingGO:00154859.8ABCA1, APOD, NPC1, NPC2
4phospholipid bindingGO:00055438.9ABCA1, PSAP, SNCA
5enzyme bindingGO:00198998.8APP, MAPT, NPC2, SNCA

Sources for Niemann-Pick Disease, Type C1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet