MCID: NMN015
MIFTS: 59

Niemann-Pick Disease, Type C1 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Respiratory diseases, Metabolic 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 49 11 65
Niemann-Pick Disease Type D 45 22 67 24
Niemann-Pick Disease Type C1 32 45 22
Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia 45 67
Niemann-Pick Disease with Cholesterol Esterification Block 45 67
Niemann-Pick Disease Without Sphingomyelinase Deficiency 45 67
Niemann-Pick Disease, Type C 45 65
Niemann-Pick Disease, Type D 49 65
Niemann-Picks Disease Type C 47 24
Niemann-Pick Disease C1 67 24
Npc1 45 67
 
Niemann-Pick Disease, Chronic Neuronopathic Form 45
Niemann-Pick Disease Chronic Neuronopathic Form 67
Niemann-Pick Disease, Subacute Juvenile Form 45
Niemann-Pick Disease Subacute Juvenile Form 67
Nova Scotia Form of Niemann-Pick Disease 45
Niemann-Pick Disease, Nova Scotian Type 45
Niemann-Pick Disease, Nova Scotia Type 22
Niemann-Pick Disease Nova Scotian Type 67
Nova Scotia Niemann-Pick Disease 45
Niemann-Pick Disease Type Ii 67
Npc 67

Characteristics:

HPO:

61
niemann-pick disease, type c1:
Onset and clinical course: phenotypic variability, onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 257220
MeSH36 D052556
UMLS65 C3179455, C0268247

Summaries for Niemann-Pick Disease, Type C1

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OMIM:49 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 early infantile neurologic onset, and has symptoms including fatal liver failure in infancy, prolonged neonatal jaundice and bone-marrow foam cells. An important gene associated with Niemann-Pick Disease, Type C1 is NPC1 (Niemann-Pick Disease, Type C1), and among its related pathways are Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF) and Fat digestion and absorption. Affiliated tissues include liver, eye and bone, and related mouse phenotypes are taste/olfaction and liver/biliary system.

UniProtKB/Swiss-Prot:67 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
Niemann-Pick Disease Type E

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

(show top 50)    (show all 125)
idRelated DiseaseScoreTop Affiliating Genes
1niemann-pick disease type c, juvenile neurologic onset34.9NPC1, NPC2
2niemann-pick disease type c, severe early infantile neurologic onset34.8NPC1, NPC2
3niemann-pick disease type c, adult neurologic onset34.8NPC1, NPC2
4niemann-pick disease type c, severe perinatal form12.8
5niemann-pick disease type c, late infantile neurologic onset12.8
6niemann-pick disease12.0
7renal cell carcinoma, papillary11.1
8colorectal adenoma11.1
9nasopharyngeal carcinoma10.6
10bockenheimer syndrome10.4NPC1, NPC2
11glycogen storage disease due to glut2 deficiency10.4NPC1, NPC2
12adult-onset leukoencephalopathy with axonal spheroids and pigmented glia10.4NPC1, SMPD1
13lung cancer10.4
14prostate cancer10.4
15breast cancer10.4
16lipoid adrenal hyperplasia10.4
17rubinstein-taybi syndrome10.4
18angina pectoris10.4
19cataract10.4
20keratoconus10.4
21leukemia10.4
22peripheral neuropathy10.4
23lymphoblastic leukemia10.4
24tetanus10.4
25pulsating exophthalmos10.4
26prostatitis10.4
27ovarian cancer10.4
28transitional cell carcinoma10.4
29endometrial adenocarcinoma10.4
30adenocarcinoma10.4
31hypersplenism10.4
32peritonitis10.4
33neuropathy10.4
34genital herpes10.4
35exophthalmos10.4
36growth hormone deficiency10.4
37retroperitoneal fibrosis10.4
38splenomegaly10.4
39niemann-pick disease, type c210.3
40congenital lobar emphysema10.3
41peptic ulcer disease10.2NPC1, NPC2, SMPD1
42hepatitis10.2
43cornelia de lange syndrome10.2
44angiomyolipoma10.2
45hepatic angiomyolipoma10.2
46mental retardation, autosomal recessive 4310.2PSAP, SMPD1
47burning mouth syndrome10.1NPC1, NPC1L1, NPC2, SMPD1
48myocardial infarction10.0
49atopy10.0
50asthma10.0

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



Diseases related to niemann-pick disease, type c1

Symptoms for Niemann-Pick Disease, Type C1

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Symptoms by clinical synopsis from OMIM:

257220

Clinical features from OMIM:

257220

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

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

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 58)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EzetimibeapprovedPhase 4, Phase 3, Phase 1266163222-33-1150311
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
2Hypolipidemic AgentsPhase 4, Phase 3, Phase 12228
3Anticholesteremic AgentsPhase 4, Phase 3, Phase 11732
4AntimetabolitesPhase 4, Phase 3, Phase 1, Phase 29454
5Liver ExtractsPhase 4, Phase 2, Phase 33572
6
PrednisoloneapprovedPhase 2, Phase 3108250-24-85755
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
Flo-pred
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
Millipred
MolPort-002-507-147
NCGC00179649-01
NSC 9120
NSC9120
NSC9900
Neo-Delta-Cortef
Nisolone
Nor-Pred T.B.A.
Ocu-Pred
Ocu-Pred Forte
Omnipred
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
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
7
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 Hydrochloride
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
8
MethylprednisoloneapprovedPhase 2, Phase 3108283-43-26741
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
A-methapred
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)
Depo-medrol
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
Solu-medrol
Summicort
Suprametil
U 7532
UNII-X4W7ZR7023
Urbason
Urbasone
Wyacort
ZINC03875560
delta(1)-6alpha-Methylhydrocortisone
delta(sup 1)-6-alpha-Methylhydrocortisone
methylprednisolone
methylprenisolone
9
Busulfanapproved, investigationalPhase 2, Phase 350655-98-12478
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)
10
Cyclophosphamideapproved, investigationalPhase 2, Phase 3264350-18-0, 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
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
11Methylprednisolone acetatePhase 2, Phase 31082
12Immunosuppressive AgentsPhase 2, Phase 3, Phase 110422
13Prednisolone hemisuccinatePhase 2, Phase 31082
14insulinPhase 34278
15Prednisolone phosphatePhase 2, Phase 31082
16Immunologic FactorsPhase 2, Phase 3, Phase 118483
17Prednisolone acetatePhase 2, Phase 31082
18Methylprednisolone HemisuccinatePhase 2, Phase 31082
19Insulin, Globin ZincPhase 34278
20Cardiac GlycosidesPhase 3, Phase 2128
21Antirheumatic AgentsPhase 2, Phase 38496
22Anti-Retroviral AgentsPhase 3, Phase 22794
23Anti-Infective AgentsPhase 3, Phase 1, Phase 217220
24Glycoside Hydrolase InhibitorsPhase 3, Phase 2111
25Antiviral AgentsPhase 3, Phase 1, Phase 28071
26Antineoplastic Agents, AlkylatingPhase 2, Phase 33406
27Antilymphocyte SerumPhase 2, Phase 3388
28Alkylating AgentsPhase 2, Phase 33582
29Hypoglycemic AgentsPhase 3, Phase 24503
30Pharmaceutical SolutionsPhase 2, Phase 3, Phase 17004
31
AcetylcysteineapprovedPhase 1, Phase 2293616-91-112035
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
32
GemcitabineapprovedPhase 1, Phase 2188195058-81-460750
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 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
33
PancrelipaseapprovedPhase 1, Phase 288053608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
Creon
PA
Pancreatic alpha-amylase precursor
Pancreaze
 
Pancrelipase
Pertzye
Polocaine-mpf
Ultresa
Viokace
Zenpep
34
PaclitaxelapprovedPhase 1, Phase 2262133069-62-436314
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
nchembio.188-comp1
nchembio.2007.34-comp9
nchembio.215-comp9
nchembio853-comp6
paclitaxel
weekly paclitaxel
35
Vorinostatapproved, investigationalPhase 1, Phase 2238149647-78-95311
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
alemtuzumabapproved, investigationalPhase 2302216503-57-0
Synonyms:
Campath
 
Lemtrada
Mabcampath
alemtuzumab
37Protective AgentsPhase 1, Phase 25651
38ExpectorantsPhase 1, Phase 2337
39AntioxidantsPhase 1, Phase 22442
40Respiratory System AgentsPhase 1, Phase 23931
41N-monoacetylcystinePhase 1, Phase 2293
42Histone Deacetylase InhibitorsPhase 1, Phase 2532
43Tubulin ModulatorsPhase 1, Phase 24279
44Albumin-Bound PaclitaxelPhase 1, Phase 22621
45pancreatinPhase 1, Phase 2880
46Antimetabolites, AntineoplasticPhase 1, Phase 25770
47Antimitotic AgentsPhase 1, Phase 24296
48Antineoplastic Agents, PhytogenicPhase 1, Phase 24294
49ImmunoglobulinsPhase 1, Phase 24477
50AntibodiesPhase 1, Phase 24477

Interventional clinical trials:

(show all 40)
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 2-hydroxypropyl-β-cyclodextrin (VTS-270) 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
7Trial in Children With Growth Failure Due to Early Onset Lysosomal Acid Lipase (LAL) Deficiency/Wolman DiseaseActive, not recruitingNCT01371825Phase 2, Phase 3
8Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type CNot yet recruitingNCT02612129Phase 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
11Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl CysteineCompletedNCT00975689Phase 1, Phase 2
12Miglustat in Niemann-Pick Type C DiseaseCompletedNCT00517153Phase 2
13Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1RecruitingNCT02124083Phase 1, Phase 2
14Safety, 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
15A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase DeficiencyRecruitingNCT02004704Phase 2
16Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood CellsRecruitingNCT00730314Phase 1, Phase 2
17Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase DeficiencyRecruitingNCT02193867Phase 2
18A Study of Gemcitabine and Nab-paclitaxel With or Without NPC-1C to Treat Patients With Pancreatic CancerRecruitingNCT01834235Phase 1, Phase 2
19Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic DisordersActive, not recruitingNCT01372228Phase 1, Phase 2
20Phase 2 Study of NPC-1C Chimeric Monoclonal Antibody to Treat Pancreatic and Colorectal CancerActive, not recruitingNCT01040000Phase 1, Phase 2
21Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of MetabolismTerminatedNCT00668564Phase 2
22Tolerability and Safety Study of Recombinant Human Acid Sphingomyelinase in Acid Sphingomyelinase Deficiency PatientsCompletedNCT01722526Phase 1
23Saccadic Eye Movements in Patients With Niemann-Pick Type C DiseaseCompletedNCT00316498Phase 1
24Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 DiseaseRecruitingNCT01747135Phase 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
28Safety Study of rhASM Enzyme Replacement Therapy in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease)TerminatedNCT00410566Phase 1
29Longitudinal Study of Cognition With Niemann-Pick Disease, Type CCompletedNCT01899950
30PET Scan of Brain Metabolism in Relation to Age and DiseaseCompletedNCT00001972
31Impact of a Short-Term High Fat or Low Fat Diet on Intestinal Genes Expression Involved in the Cholesterol and Fatty Acid MetabolismCompletedNCT01806441
32Plant Stanols and Gene Expression ProfileCompletedNCT01574417
33Effects of N-3 Polyunsaturated Fatty Acids On Chylomicron Secretion And Expression Of Genes That Regulate Intestinal Lipid Metabolism In Men With Type 2 DiabetesCompletedNCT01449773
34Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type CRecruitingNCT00344331
35A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type CRecruitingNCT02435030
36Biomarker for Niemann Pick Type C DiseaseRecruitingNCT01306604
37Investigating Lysosomal Storage Diseases in Minority GroupsRecruitingNCT02120235
38Molecular and Cellular Mechanisms of Lysosomal Storage DiseasesRecruitingNCT02000310
39Study of Changes in Total Cholesterol Levels as a Function of Consuming a Supplement Designed to Improve Cardiovascular HealthRecruitingNCT01890889
40Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell TransplantationActive, not recruitingNCT00005900

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 C122 NPC1

Anatomical Context for Niemann-Pick Disease, Type C1

About this section

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

33
Liver, Eye, Bone, Brain, Bone marrow, Prostate, T cells

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

About this section

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

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.2MAPT, NPC1, SNCA
2MP:00053709.0ABCA1, NPC1, NPC1L1, NPC2, PSAP, SMPD1
3MP:00053888.7ABCA1, HCRT, NPC1, NPC2, PSAP, SMPD1
4MP:00053898.1ABCA1, APP, NPC1, PSAP, SMPD1, SNCA
5MP:00053977.7ABCA1, APP, MAPT, NPC1, NPC2, PSAP
6MP:00053847.2ABCA1, APP, MAPT, NPC1, NPC2, PSAP
7MP:00053856.8ABCA1, APOD, HCRT, MAPT, NPC1, NPC2
8MP:00053866.8APOD, APP, HCRT, MAPT, NPC1, NPC2
9MP:00107686.6ABCA1, APOD, APP, MAPT, NPC1, NPC2
10MP:00053876.6ABCA1, APP, MAPT, NPC1, NPC2, PSAP
11MP:00036316.3ABCA1, APOD, APP, HCRT, MAPT, NPC1
12MP:00053786.2ABCA1, APP, HCRT, MAPT, NPC1, NPC1L1
13MP:00053765.4ABCA1, 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 23)
idTitleAuthorsYear
1
Long-term outcome and preprocedural predictors of atrial tachyarrhythmia recurrence following pulmonary vein antrum isolation-based catheter ablation in patients with non-paroxysmal atrial fibrillation. (24373867)
2013
2
Poliovirus receptor (CD155) regulates a step in transendothelial migration between PECAM and CD99. (23333754)
2013
3
Induction of endoplasmic reticulum stress genes, BiP and chop, in genetic and environmental models of retinal degeneration. (23074209)
2012
4
Analysis of bilirubin UDP-glucuronosyltransferase gene mutations in an unusual Crigler-Najjar syndrome patient. (22710376)
2012
5
Progress in the treatment of lymphangioleiomyomatosis: from bench to bedside. (22480994)
2012
6
Effects of omeprazole on symptoms and quality of life in Japanese patients with reflux esophagitis: final results of OMAREE, a large-scale clinical experience investigation. (21356058)
2011
7
Novel metastasis-related gene CIM functions in the regulation of multiple cellular stress-response pathways. (21118962)
2010
8
Herpes simplex virus type 2 tegument protein UL56 relocalizes ubiquitin ligase Nedd4 and has a role in transport and/or release of virions. (19835589)
2009
9
Anti-IgE therapy in persistent allergic asthma]. (19689039)
2009
10
Respiratory failure, juvenile myelomonocytic leukemia, and neonatal Noonan syndrome. (17414570)
2007
11
Modulation of D-serine levels via ubiquitin-dependent proteasomal degradation of serine racemase. (16714286)
2006
12
The collecting duct carcinoma of the kidney: a cytogenetical study. (12767370)
2003
13
Replication-mediated DNA damage by camptothecin induces phosphorylation of RPA by DNA-dependent protein kinase and dissociates RPA:DNA-PK complexes. (10064605)
1999
14
Expression and purification of prostate-specific membrane antigen in the baculovirus expression system and recognition by prostate-specific membrane antigen-specific T cells. (10404436)
1999
15
Cryptochromes: blue light receptors for plants and animals. (10221900)
1999
16
Long-term treatment of refractory thrombocytopenia in a patient with Wiskott-Aldrich syndrome with vincristine, immunoglobulin, and methylprednisolone. (10539885)
1999
17
Cytoplasmic accumulation of alpha-catenin is associated with aggressive features in laryngeal squamous-cell carcinoma. (9761128)
1998
18
In vitro prevention and reversal of lipopolysaccharide desensitization by IFN-gamma, IL-12, and granulocyte-macrophage colony-stimulating factor. (9058829)
1997
19
Adoptive immunotherapy with vaccine-primed lymph node cells secondarily activated with anti-CD3 and interleukin-2. (9053507)
1997
20
Antibiotic resistance and production of extended-spectrum beta-lactamases amongst Klebsiella spp. from intensive care units in Europe. (8889716)
1996
21
Neuropeptides and asthma. (1706152)
1991
22
Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state. (3712389)
1986
23
Fetal hydrocele detected in utero by ultrasound. (573649)
1979

Variations for Niemann-Pick Disease, Type C1

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

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

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

5 (show all 57)
id Gene Variation Type Significance SNP ID Assembly Location
1NPC1NM_000271.4(NPC1): c.1030delT (p.Ser344Leufs)deletionPathogenicrs483352883GRCh38Chr 18, 23556539: 23556539
2NPC1NM_000271.4(NPC1): c.1502A> T (p.Asp501Val)single nucleotide variantPathogenicrs483352885GRCh38Chr 18, 23554809: 23554809
3NPC1NM_000271.4(NPC1): c.1553G> A (p.Arg518Gln)single nucleotide variantLikely 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)single nucleotide variantPathogenicrs483352887GRCh38Chr 18, 23545075: 23545075
6NPC1NM_000271.4(NPC1): c.2054T> C (p.Ile685Thr)single nucleotide variantPathogenicrs483352888GRCh38Chr 18, 23544420: 23544420
7NPC1NM_000271.4(NPC1): c.2128C> T (p.Gln710Ter)single nucleotide variantPathogenicrs483352889GRCh38Chr 18, 23544346: 23544346
8NPC1NM_000271.4(NPC1): c.2177G> C (p.Arg726Thr)single nucleotide variantPathogenicrs483352890GRCh38Chr 18, 23543523: 23543523
9NPC1NM_000271.4(NPC1): c.2230_2231delGT (p.Val744Serfs)deletionPathogenicrs483352882GRCh38Chr 18, 23543469: 23543470
10NPC1NM_000271.4(NPC1): c.2302dupG (p.Val768Glyfs)duplicationPathogenicrs483352881GRCh38Chr 18, 23541377: 23541377
11NPC1NM_000271.4(NPC1): c.2366G> A (p.Arg789His)single nucleotide variantPathogenicrs483352891GRCh38Chr 18, 23541313: 23541313
12NPC1NM_000271.4(NPC1): c.2795dupA (p.Tyr932Terfs)duplicationPathogenicrs483352884GRCh38Chr 18, 23539811: 23539811
13NPC1NM_000271.4(NPC1): c.2912-3C> Gsingle nucleotide variantPathogenicrs483352892GRCh38Chr 18, 23538674: 23538674
14NPC1NM_000271.4(NPC1): c.416dupC (p.Asn140Lysfs)duplicationPathogenicrs483352880GRCh38Chr 18, 23568870: 23568870
15NPC1NM_000271.4(NPC1): c.481C> T (p.Arg161Trp)single nucleotide variantLikely pathogenicrs141243713GRCh37Chr 18, 21141474: 21141474
16NPC1NM_000271.4(NPC1): c.1628C> T (p.Pro543Leu)single nucleotide variantLikely pathogenic, Pathogenicrs369368181GRCh38Chr 18, 23551653: 23551653
17NPC1NM_000271.4(NPC1): c.2777C> T (p.Ala926Val)single nucleotide variantPathogenicrs730880963GRCh38Chr 18, 23539829: 23539829
18NPC1NM_000271.4(NPC1): c.2861C> T (p.Ser954Leu)single nucleotide variantLikely pathogenic, Pathogenicrs543206298GRCh38Chr 18, 23539405: 23539405
19NPC1NM_000271.4(NPC1): c.3265G> A (p.Glu1089Lys)single nucleotide variantPathogenicrs374526072GRCh37Chr 18, 21115645: 21115645
20NPC1NM_000271.4(NPC1): c.3505A> C (p.Ser1169Arg)single nucleotide variantLikely pathogenicrs730880964GRCh38Chr 18, 23534532: 23534532
21NPC1NM_000271.4(NPC1): c.2819C> T (p.Ser940Leu)single nucleotide variantLikely pathogenicrs143124972GRCh38Chr 18, 23539447: 23539447
22NPC1NM_000271.4(NPC1): c.3614C> A (p.Thr1205Lys)single nucleotide variantLikely pathogenicrs758902805GRCh38Chr 18, 23533495: 23533495
23NPC1NM_000271.4(NPC1): c.3175C> T (p.Arg1059Ter)single nucleotide variantLikely pathogenicrs786204455GRCh38Chr 18, 23536743: 23536743
24NPC1NM_000271.4(NPC1): c.1211G> A (p.Arg404Gln)single nucleotide variantLikely pathogenicrs139751448GRCh37Chr 18, 21136322: 21136322
25NPC1NM_000271.4(NPC1): c.2761C> T (p.Gln921Ter)single nucleotide variantLikely pathogenicrs786204512GRCh38Chr 18, 23539845: 23539845
26NPC1NM_000271.4(NPC1): c.2972_2973delAG (p.Gln991Argfs)deletionLikely pathogenicrs756815030GRCh37Chr 18, 21118574: 21118575
27NPC1NM_000271.4(NPC1): c.2893C> T (p.Gln965Ter)single nucleotide variantLikely pathogenicrs786204586GRCh37Chr 18, 21119337: 21119337
28NPC1NM_000271.4(NPC1): c.2764C> T (p.Gln922Ter)single nucleotide variantLikely pathogenicrs786204641GRCh38Chr 18, 23539842: 23539842
29NPC1NM_000271.4(NPC1): c.2801G> A (p.Arg934Gln)single nucleotide variantLikely pathogenicrs786204714GRCh38Chr 18, 23539465: 23539465
30NPC1NM_000271.4(NPC1): c.3557G> A (p.Arg1186His)single nucleotide variantLikely pathogenicrs200444084GRCh38Chr 18, 23534480: 23534480
31NPC1NM_000271.4(NPC1): c.1947+2T> Gsingle nucleotide variantLikely pathogenicrs764472245GRCh38Chr 18, 23544958: 23544958
32NPC1NM_000271.4(NPC1): c.2621A> T (p.Asp874Val)single nucleotide variantPathogenicrs372030650GRCh37Chr 18, 21119949: 21119949
33NPC1NM_000271.4(NPC1): c.1142G> A (p.Trp381Ter)single nucleotide variantPathogenicrs794727897GRCh37Chr 18, 21136391: 21136391
34NPC1NM_000271.4(NPC1): c.2324A> C (p.Gln775Pro)single nucleotide variantPathogenicrs80358253GRCh37Chr 18, 21121319: 21121319
35NPC1NM_000271.4(NPC1): c.2974G> A (p.Gly992Arg)single nucleotide variantLikely pathogenic, Pathogenicrs80358254GRCh37Chr 18, 21118573: 21118573
36NPC1NM_000271.4(NPC1): c.3160G> A (p.Ala1054Thr)single nucleotide variantPathogenicrs80358258GRCh37Chr 18, 21116722: 21116722
37NPC1NM_000271.4(NPC1): c.3234_3237dupATTT (p.Pro1080Ilefs)duplicationLikely pathogenicrs863224902GRCh38Chr 18, 23536681: 23536684
38NPC1NM_000271.4(NPC1): c.2783A> C (p.Gln928Pro)single nucleotide variantPathogenicrs28940897GRCh37Chr 18, 21119787: 21119787
39NPC1NM_000271.4(NPC1): c.3107C> T (p.Thr1036Met)single nucleotide variantLikely pathogenic, Pathogenicrs28942104GRCh37Chr 18, 21116775: 21116775
40NPC1NM_000271.4(NPC1): c.3467A> G (p.Asn1156Ser)single nucleotide variantPathogenicrs28942105GRCh37Chr 18, 21115443: 21115443
41NPC1NM_000271.4(NPC1): c.2974G> T (p.Gly992Trp)single nucleotide variantPathogenicrs80358254GRCh37Chr 18, 21118573: 21118573
42NPC1NPC1, 1553G-Asingle nucleotide variantPathogenic
43NPC1NM_000271.4(NPC1): c.3019C> G (p.Pro1007Ala)single nucleotide variantPathogenicrs80358257GRCh37Chr 18, 21118528: 21118528
44NPC1NM_000271.4(NPC1): c.3182T> C (p.Ile1061Thr)single nucleotide variantPathogenicrs80358259GRCh37Chr 18, 21116700: 21116700
45NPC1NM_000271.4(NPC1): c.2873G> A (p.Arg958Gln)single nucleotide variantPathogenicrs120074132GRCh37Chr 18, 21119357: 21119357
46NPC1NM_000271.4(NPC1): c.2974G> C (p.Gly992Arg)single nucleotide variantLikely pathogenic, Pathogenicrs80358254GRCh37Chr 18, 21118573: 21118573
47NPC1NM_000271.4(NPC1): c.1133T> C (p.Val378Ala)single nucleotide variantPathogenicrs120074134GRCh37Chr 18, 21136400: 21136400
48NPC1NM_000271.4(NPC1): c.2848G> A (p.Val950Met)single nucleotide variantLikely pathogenic, Pathogenicrs120074135GRCh37Chr 18, 21119382: 21119382
49NPC1NM_000271.4(NPC1): c.3104C> T (p.Ala1035Val)single nucleotide variantPathogenicrs28942107GRCh37Chr 18, 21116778: 21116778
50NPC1NM_000271.4(NPC1): c.3591+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs786200877GRCh38Chr 18, 23534445: 23534445
51NPC1NM_000271.4(NPC1): c.530G> A (p.Cys177Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs80358252GRCh37Chr 18, 21141425: 21141425
52NPC1NPC1, IVS16, G-A, -82single nucleotide variantPathogenic
53NPC1NM_000271.4(NPC1): c.2932C> T (p.Arg978Cys)single nucleotide variantPathogenicrs28942108GRCh37Chr 18, 21118615: 21118615
54NPC1NM_000271.4(NPC1): c.3662delT (p.Phe1221Serfs)deletionPathogenicrs786200878GRCh38Chr 18, 23533447: 23533447
55NPC1NM_000271.4(NPC1): c.337T> C (p.Cys113Arg)single nucleotide variantPathogenicrs120074136GRCh37Chr 18, 21148913: 21148913
56NPC1NM_000271.4(NPC1): c.3611_3614delTTAC (p.Leu1204Glnfs)deletionPathogenicrs786200879GRCh38Chr 18, 23533495: 23533498
57NPC1NM_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
1rough endoplasmic reticulumGO:00057919.4APP, HCRT
2endosomeGO:00057689.4APP, NPC1, SMPD1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1phospholipid transportGO:001591410.1ABCA1, NPC2
2intracellular cholesterol transportGO:003236710.0ABCA1, NPC2
3sphingolipid metabolic processGO:000666510.0PSAP, SMPD1
4cholesterol metabolic processGO:00082039.9APP, NPC2
5lipoprotein metabolic processGO:00421579.8ABCA1, NPC1L1
6lipid transportGO:00068699.8APOD, PSAP
7cholesterol effluxGO:00333449.7ABCA1, NPC1, NPC2
8cholesterol homeostasisGO:00426329.5ABCA1, NPC1
9response to cocaineGO:00422209.3SMPD1, SNCA

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

idNameGO IDScoreTop Affiliating Genes
1lipid bindingGO:00082899.8APOD, PSAP

Sources for Niemann-Pick Disease, Type C1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet