MCID: NMN002
MIFTS: 63

Niemann-Pick Disease malady

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

Aliases & Classifications for Niemann-Pick Disease

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Aliases & Descriptions for Niemann-Pick Disease:

Name: Niemann-Pick Disease 34 11 70 25 48 13
Niemann-Pick Disease Type C 11 23 24
Niemann-Pick Disease Type a 11 47 24
Niemann-Pick Disease Type B 11 47 24
Sphingomyelin Lipidosis 11 47 25
Niemann-Pick Diseases 49 38 67
Sphingomyelin/cholesterol Lipidosis 25 26
Juvenile Niemann-Pick Disease 23 24
Niemann-Pick Disease, Type C 38 67
Sphingomyelinase Deficiency 47 25
Lipoid Histiocytosis 11 67
Niemann-Pick Disease with Cholesterol Esterification Block 11
Niemann-Pick Disease, Subacute Juvenile Form 11
 
Sphingomyelinase Deficiency Disease 11
Neuronal Cholesterol Lipidosis 25
Niemann-Pick Disease, Type a 67
Niemann-Pick Disease, Type B 67
Niemann Pick Disease Type B 47
Type a Niemann-Pick Disease 11
Lipid Histiocytosis 25
Neuronal Lipidosis 25
Niemann-Pick 70
Npd Type B 24
Npd Type a 24
Npd 25

Classifications:



External Ids:

Disease Ontology11 DOID:14504
SNOMED-CT61 58459009, 66751000

Summaries for Niemann-Pick Disease

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Genetics Home Reference:25 Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic cause and the signs and symptoms of the condition.

MalaCards based summary: Niemann-Pick Disease, also known as niemann-pick disease type c, is related to niemann-pick disease, type b and niemann-pick disease type c, juvenile neurologic onset, and has symptoms including constipation, hepatomegaly and vomiting. An important gene associated with Niemann-Pick Disease is SMPD1 (Sphingomyelin Phosphodiesterase 1), and among its related pathways are Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF) and Lysosome. Affiliated tissues include liver, bone and brain, and related mouse phenotypes are endocrine/exocrine gland and liver/biliary system.

NINDS:48 Niemann-Pick disease (NP) refers to a group of inherited metabolic disorders known as lipid storage diseases.

GeneReviews for NBK1296

Related Diseases for Niemann-Pick Disease

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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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 96)
idRelated DiseaseScoreTop Affiliating Genes
1niemann-pick disease, type b34.6CHIT1, SMPD1, UGT8
2niemann-pick disease type c, juvenile neurologic onset34.1NPC1, NPC2
3niemann-pick disease type c, adult neurologic onset34.1NPC1, NPC2
4gaucher disease, type i31.8CHIT1, GBA, PSAP, UGCG
5niemann-pick disease, type c112.9
6niemann-pick disease, type a12.8
7niemann-pick disease, type c212.7
8niemann-pick disease type c, severe perinatal form12.1
9niemann-pick disease type c, late infantile neurologic onset12.1
10niemann-pick disease type c, severe early infantile neurologic onset12.1
11acid sphingomyelinase deficiency11.7
12sphingolipidosis11.5
13pick disease11.3
14sea-blue histiocyte disease11.1
15narcissistic personality disorder10.9
16limbic encephalitis with nmda receptor antibodies10.6NPC1, NPC2
17congenital enterovirus infection10.5NPC1, NPC2
18mucopolysaccharidosis type 2, attenuated form10.5NPC1, NPC2
19neuronitis10.5
20adult polyglucosan body disease10.4NPC1, SMPD1
21parovarian cyst10.4NPC1, NPC2, SMPD1
22hepatitis10.3
23histiocytosis10.3
24pediatric infratentorial ependymoma10.3NPC1, NPC2, SMPD1
25cholestasis, familial intrahepatic, of pregnancy 110.3CHIT1, GBA
26colorectal cancer, hereditary nonpolyposis, type 710.2MIR4709, NPC2
27phototoxic dermatitis10.2GBA, SMPD1
28lysosomal storage disease10.2
29gaucher disease, type iii10.2GBA, PSAP
30liver disease10.1
31cerebritis10.1
32splenomegaly10.1
33gaucher disease, type ii10.1GBA, PSAP
34mental retardation, autosomal recessive 4310.1M6PR, PSAP, SMPD1
35hepatocellular carcinoma10.0
36crohn's disease10.0
37glycogen storage disease10.0
38leukemia10.0
39osteomyelitis10.0
40pulmonary alveolar proteinosis10.0
41epilepsy10.0
42juvenile xanthogranuloma10.0
43dysphagia10.0
44myoclonus10.0
45tremor10.0
46reproductive organ cancer10.0CHIT1, GBA, PSAP
47spinal muscular atrophy with progressive myoclonic epilepsy10.0PSAP, SMPD1
48cardiomyopathy, dilated, 1u10.0MIR4709, NPC1, NPC1L1, NPC2, SMPD1
49schizophrenia9.9
50breast cancer9.9

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



Diseases related to niemann-pick disease

Symptoms for Niemann-Pick Disease

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UMLS symptoms related to Niemann-Pick Disease:


constipation, hepatomegaly, vomiting, muscle weakness, dyspnea

Drugs & Therapeutics for Niemann-Pick Disease

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

(show top 50)    (show all 92)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EzetimibeapprovedPhase 3, Phase 1272163222-33-1150311
Synonyms:
(-)-Sch 58235
(1-(4-fluorophenyl)-(3R)-(3-(4-fluorophenyl)-(3S)-hydroxypropyl)-(4S)-(4-hydroxyphenyl)-2-azetidinone)
(3R,4S)-1-(4-fluorophenyl)-3-[(3S)-3-(4-fluorophenyl)-3-hydroxypropyl]-4-(4-hydroxyphenyl)azetidin-2-one
(3R,4S)-1-(p-Fluorophenyl)-3-((3S)-3-(p-fluorophenyl)-3-hydroxypropyl)-4-(p-hydroxyphenyl)-2-azetidinone
1-(4-fluorophenyl)-3(R)-[3-(4-fluorophenyl)-3(S)-(4-hydroxyphenyl)-2-azetidione
1-(4-fluorophenyl)-3(R)-[3-(4-fluorophenyl)-3(S)-hydroxypropyl]-4(S)-(4-hydroxyphenyl)-2-azetidinone
163222-33-1
AC-1057
AC1L442L
C108606
CHEBI:49040
CHEMBL1138
CID150311
CPD000466334
D01966
DB00973
Essex brand of ezetimibe
Ezedoc
Ezetimiba
Ezetimibe
Ezetimibe (JAN/USAN/INN)
Ezetimibe [USAN:INN]
Ezetimibum
 
Ezetrol
HMS2051K16
LS-181801
MK-0653
MLS000759443
MLS001424125
MSD brand of ezetimibe
Merck brand of ezetimibe
MolPort-005-938-627
S1655_Selleck
SAM001246623
SCH-58235
SCH58235
SMR000466334
STK640490
STOCK6S-73750
Sch 58235
Schering-Plough brand of ezetimibe
UNII-EOR26LQQ24
ZINC03810860
Zetia
Zetia (TN)
Zetia , Ezetrol, Ezetimibe
Zient
ezetimib
2
Prednisoloneapproved, vet_approvedPhase 2, Phase 3115350-24-85755
Synonyms:
(11beta)-11,17,21-Trihydroxypregna-1,4-diene-3,20-dione
.DELTA.1-Cortisol
.DELTA.1-Dehydrocortisol
.DELTA.1-Dehydrohydrocortisone
.DELTA.1-Hydrocortisone
.delta.-Cortef
.delta.-Stab
1,2-Dehydrohydrocortisone
1,4-Pregnadiene-11beta,17alpha,21-triol-3,20-dione
1,4-Pregnadiene-3,20-dione-11beta,17alpha,21-triol
1-Dehydrocortisol
1-Dehydrohydrocortisone
3,20-dioxo-11beta,17alpha,21-Trihydroxy-1,4-pregnadiene
46656_FLUKA
46656_RIEDEL
50-24-8
58201-11-9
8056-11-9
AC-1773
AC1L1L2E
Ak-Pred
Ak-Tate
Alphadrol
Articulose-50
BPBio1_000164
BRD-K98039984-001-03-0
BRN 1354103
BSPBio_000148
Bio-0666
Bubbli-Pred
C07369
CCRIS 980
CHEBI:8378
CHEMBL131
CID5755
CO-Hydeltra
CPD000718761
Co-Hydeltra
Codelcortone
Cordrol
Cortalone
Cotogesic
Cotolone
D00472
D011239
DB00860
Decaprednil
Decortin H
Delcortol
Delta F
Delta(1)-dehydrohydrocortisone
Delta-Cortef
Delta-Cortef (TN)
Delta-Ef-Cortelan
Delta-Stab
Delta-stab
Deltacortenol
Deltacortril
Deltacortril Enteric
Deltahydrocortisone
Deltasolone
Deltisilone
Depo-Medrol
Derpo PD
Derpo Pd
Dexa-Cortidelt Hostacortin H
Dexa-Cortidelt hostacortin H
Di Adreson F
Di-Adreson F
Di-Adreson-F
Di-adreson F
DiAdresonF
Dicortol
Donisolone
Dydeltrone
EINECS 200-021-7
Eazolin D
Econopred
Econopred Plus
Erbacort
Erbasona
Estilsona
Fernisolone
Fernisolone P
Fernisolone-P
Flamasone
HMS1568H10
HMS2090J05
HSDB 3385
Hostacortin H
Hydeltra
Hydeltra-Tba
Hydeltrasol
Hydeltrone
Hydrodeltalone
Hydrodeltisone
Hydroretrocortin
Hydroretrocortine
I-Pred
Inflamase Forte
Inflamase Mild
K 1557
Key-Pred
Klismacort
LMST02030179
LS-7669
Lentosone
Lite Pred
M-Predrol
 
MLS001304083
MLS002154250
MLS002207037
Medrol
Medrol Acetate
Metacortandralone
Methylprednisolone Acetate
Meti-Derm
Meticortelone
Metreton
MolPort-002-507-147
NCGC00179649-01
NSC 9120
NSC9120
NSC9900
Neo-Delta-Cortef
Nisolone
Nor-Pred T.B.A.
Ocu-Pred
Ocu-Pred Forte
Ophtho-Tate
Orapred
P0152_SIGMA
P0637
P6004_SIGMA
PRDL
PRED-G
Panafcortelone
Paracortol
Paracotol
Pediapred
Poly-Pred
Precortalon
Precortancyl
Precortilon
Precortisyl
Pred Forte
Pred Mild
Predair
Predair A
Predair Forte
Predalone 50
Predalone T.B.A.
Predate
Predate Tba
Predate-50
Predcor-25
Predcor-50
Predcor-Tba
Predisolone Sodium Phosphate
Predne-Dome
Prednelan
Predni-Dome
Prednicen
Predniliderm
Predniretard
Prednis
Prednisolona
Prednisolona [INN-Spanish]
Prednisolone (JP15/USP/INN)
Prednisolone (anhydrous)
Prednisolone Acetate
Prednisolone Sodium Phosphate
Prednisolone Tebutate
Prednisolone [INN:BAN:JAN]
Prednisolonum
Prednisolonum [INN-Latin]
Predonin
Predonine
Prelone
Prenolone
Prestwick0_000274
Prestwick1_000274
Prestwick2_000274
Prestwick3_000274
Prestwick_404
Rolisone
S1737_Selleck
SAM002264639
SMR000718761
SPBio_002367
Scherisolon
Solone
Steran
Sterane
Sterolone
Supercortisol
UNII-9PHQ9Y1OLM
Ulacort
Ultra Pred
Ultracorten H
Ultracortene H
Ultracortene-H
Ultracortene-Hydrogen
Ultracortene-hydrogen
ZINC03833821
component of Ataraxoid
component of K-Predne-Dome
delta(1)-Cortisol
delta(1)-Dehydrocortisol
delta(1)-Dehydrohydrocortisone
delta(1)-Hydrocortisone
delta(sup 1)-Cortisol
delta(sup 1)-Dehydrocortisol
delta(sup 1)-Dehydrohydrocortisone
delta(sup 1)-Hydrocortisone
delta-dehydrocortisol
delta-dehydrohydrocortisone
delta-hydrocortisone
prednisolone
3
Busulfanapproved, investigationalPhase 2, Phase 354055-98-12478
Synonyms:
1, 4-Dimethanesulfonoxybutane
1, 4-Dimethylsulfonoxybutane
1, {4-Bis[methanesulfonoxy]butane}
1,4-BUTANEDIOL DIMETHANESULFONATE
1,4-Bis(methanesulfonoxy)butane
1,4-Bis(methanesulfonyloxy)butane
1,4-Bis[methanesulfonoxy]butane
1,4-Butanedi yl dimethanesulfonate
1,4-Butanediol dimethanesulfonate
1,4-Butanediol dimethanesulphonate
1,4-Butanediol dimethylsulfonate
1,4-Butanediol, dimethanesulfonate
1,4-Butanediol, dimethanesulphonate
1,4-Butanediyl dimethanesulfonate
1,4-Di(methylsulfonoxy)butane
1,4-Dimesyloxybutane
1,4-Dimethane sulfonyl oxybutane
1,4-Dimethanesulfonoxybutane
1,4-Dimethanesulfonoxylbutane
1,4-Dimethanesulfonyloxybutane
1,4-Dimethanesulphonyloxybutane
1,4-Dimethylsulfonoxybutane
1,4-Dimethylsulfonyloxybutane
2041 C. B
2041 C. B.
2041 C.B
2041 C.B.
4-((Methylsulfonyl)oxy)butyl methanesulfonate
4-methylsulfonyloxybutyl methanesulfonate
55-98-1
AC-198
AC1L1DRQ
AC1Q4GRQ
AI3-25012
AKOS003614975
AN 33501
Ambap55-98-1
B1022
B2635_FLUKA
B2635_SIGMA
BRN 1791786
BSPBio_001920
BUSULFAN (1,4-BUTANEDIOL, DIMETHANESULFONATE)
Bisulfex
Busilvex
Busulfan
Busulfan (JP15/USP/INN)
Busulfan GlaxoSmithKline Brand
Busulfan Orphan Brand
Busulfan Wellcome
Busulfan Wellcome Brand
Busulfan [INN:JAN]
Busulfano
Busulfano [INN-Spanish]
Busulfanum
Busulfanum [INN-Latin]
Busulfex
Busulphan
Busulphane
Butanedioldimethanesulfonate
Buzulfan
C.B. 2041
C6H14O6S2
CB 2041
CCRIS 418
CHEBI:28901
CHEMBL820
CID2478
CPD000058613
Citosulfan
D002066
D00248
DB01008
DivK1c_000847
EINECS 200-250-2
FT-0083567
G.T. 41
GT 2041
GT 41
Glaxo Wellcome Brand of Busulfan
GlaxoSmithKline Brand of Busulfan
Glyzophrol
HMS1920I07
HMS2091O09
HMS502K09
 
HSDB 7605
I09-1371
IDI1_000847
InChI=1/C6H14O6S2/c1-13(7,8)11-5-3-4-6-12-14(2,9)10/h3-6H2,1-2H3
KBio1_000847
KBio2_000512
KBio2_003080
KBio2_005648
KBio3_001420
KBioGR_000698
KBioSS_000512
LS-1358
Leucosulfan
MLS001076666
MYLERAN (TN)
Mablin
Methanesulfonic
Methanesulfonic acid, tetram ethylene ester
Methanesulfonic acid, tetramethylene ester
Mielevcin
Mielosan
Mielucin
Milecitan
Mileran
Misulban
Mitosan
Mitostan
MolPort-001-783-406
Myeleukon
Myeloleukon
Myelosan
Myelosanum
Mylecytan
Myleran
Myleran Tablets
Myleran tablets
Myleran, Busulfex, Busulfan
Mylerlan
NCGC00090905-01
NCGC00090905-02
NCGC00090905-03
NCGC00090905-04
NCGC00090905-05
NCGC00090905-06
NCGC00090905-07
NCI-C01592
NCI60_041640
NCIMech_000192
NINDS_000847
NSC 750
NSC-750
NSC-750sulphabutin
NSC750
Orphan Brand of Busulfan
Prestwick_989
S1692_Selleck
SAM002554887
SMR000058613
SPBio_000253
SPECTRUM1500152
ST50825921
Spectrum2_000067
Spectrum3_000320
Spectrum4_000259
Spectrum5_000928
Spectrum_000092
Sulfabutin
Sulfabutin (VAN)
Sulphabutin
Tetramethylene Dimethane Sulfonate
Tetramethylene bis(methanesulfonate)
Tetramethylene bis[methanesulfonate]
Tetramethylene dimethane sulfonate
Tetramethylene {bis[methanesulfonate]}
Tetramethylenester Kyseliny Methansulfonove
Tetramethylenester kyseliny methansulfonove
Tetramethylenester kyseliny methansulfonove [Czech]
UNII-G1LN9045DK
WLN: WS1&O4OSW1
Wellcome Brand of Busulfan
Wellcome, Busulfan
X 149
acid, tetramethylene ester
alkylating agent: crosslinks guanine residues
busulfan
butane-1,4-diyl dimethanesulfonate
n-Butane-1,3-di(methylsulfonate)
4
Cyclophosphamideapproved, investigationalPhase 2, Phase 3282950-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Anhydrous cyclophosphamide
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
 
DB00531
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
5
Methylprednisoloneapproved, vet_approvedPhase 2, Phase 3115383-43-26741
Synonyms:
(6S,8S,9S,10R,11S,13S,14S,17R)-11,17-dihydroxy-17-(2-hydroxyacetyl)-6,10,13-trimethyl-7,8,9,11,12,14,15,16-octahydro-6H-cyclopenta[a]phenanthren-3-one
(6a,11b)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6alpha,11beta)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6α,11β)-11,17,21-trihydroxy-6-methylpregna-1,4-diene-3,20-dione
.DELTA.1-6.alpha.-Methylhydrocortisone
1-Dehydro-6alpha-methylhydrocortisone
1-dehydro-6alpha-Methylhydrocortisone
1-dehydro-6α-methylhydrocortisone
11-beta,17,21-Trihydroxy-6-alpha-methylpregna-1,4-diene-3,20-dione
11beta,17,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methyl-1,4-pregnadiene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
121673-01-6
4-08-00-03498 (Beilstein Handbook Reference)
46436_FLUKA
46436_RIEDEL
570-35-4
6 Methylprednisolone
6-Methylprednisolone
6-alpha-Methylprednisolone
6.alpha.-Methylprednisolone
6923-42-8
6alpha-Methyl-11beta,17alpha,21-trihydroxy-1,4-pregnadiene-3,20-dione
6alpha-Methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
6alpha-Methylprednisolone
6alpha-methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
83-43-2
AC1L1N7A
Artisone-Wyeth
Artisone-wyeth
BPBio1_000174
BRD-K35240538-001-03-1
BRN 2340300
BSPBio_000158
Besonia
Bio-0658
CHEBI:6888
CHEMBL650
CID6741
CPD000058330
D00407
D008775
DB00959
Depo-Medrol (acetate)
Dopomedrol
EINECS 201-476-4
Esametone
Firmacort
HMS1568H20
HMS2090B13
HSDB 3127
LMST02030178
LS-118498
Lemod
M0639_SIGMA
M1665
MEPRDL
MLS000028541
MLS001148159
MLS002207191
Medesone
Medixon
Medlone 21
 
Medrate
Medrol
Medrol (TN)
Medrol Adt Pak
Medrol Dosepak
Medrol adt pak
Medrol dosepak
Medrol, Solu-Medrol, Medrone, Methylprednisolone
Medrone
Mesopren
Metastab
Methyleneprednisolone
Methylprednisolon
Methylprednisolone
Methylprednisolone (JP15/USP/INN)
Methylprednisolone [USAN:INN:BAN:JAN]
Methylprednisolone, 6-alpha
Methylprednisolonum
Methylprednisolonum [INN-Latin]
Metilbetasone
Metilprednisolona
Metilprednisolona [INN-Spanish]
Metilprednisolone
Metilprednisolone [DCIT]
Metilprednisolone [Dcit]
Metipred
Metrisone
Metrocort
Metysolon
Moderin
MolPort-002-528-554
NCGC00022735-03
NCI60_001657
NSC-19987
NSC19987
Nirypan
Noretona
Predni N Tablinen
Prednol- L
Pregna-1,4-diene-3,20-dione, 11beta,17,21-trihydroxy-6alpha-methyl- (8CI)
Prestwick0_000279
Prestwick1_000279
Prestwick2_000279
Prestwick3_000279
Prestwick_622
Promacortine
Reactenol
S1733_Selleck
SAM002589984
SMR000058330
SPBio_002377
Sieropresol
Solomet
Summicort
Suprametil
U 7532
UNII-X4W7ZR7023
Urbason
Urbasone
Wyacort
ZINC03875560
delta(1)-6alpha-Methylhydrocortisone
delta(sup 1)-6-alpha-Methylhydrocortisone
methylprednisolone
methylprenisolone
6
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
7
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
8Lipid Regulating AgentsPhase 3, Phase 12702
9Hypolipidemic AgentsPhase 3, Phase 12721
10Anticholesteremic AgentsPhase 3, Phase 11983
11AntimetabolitesPhase 3, Phase 2, Phase 111774
12Insulin, Globin ZincPhase 34523
13Methylprednisolone HemisuccinatePhase 2, Phase 31153
14Prednisolone acetatePhase 2, Phase 31153
15Methylprednisolone acetatePhase 2, Phase 31153
16Prednisolone hemisuccinatePhase 2, Phase 31153
17insulinPhase 34524
18Prednisolone phosphatePhase 2, Phase 31153
19Cardiac GlycosidesPhase 3, Phase 2, Phase 1148
20Glycoside Hydrolase InhibitorsPhase 3, Phase 2, Phase 1128
21Antiviral AgentsPhase 3, Phase 1, Phase 29732
22Anti-Retroviral AgentsPhase 3, Phase 2, Phase 13232
23Anti-Infective AgentsPhase 3, Phase 1, Phase 221402
24Immunosuppressive AgentsPhase 2, Phase 312770
25Hypoglycemic AgentsPhase 3, Phase 2, Phase 15733
26Antirheumatic AgentsPhase 2, Phase 310627
27Antineoplastic Agents, AlkylatingPhase 2, Phase 34474
28Antilymphocyte SerumPhase 2, Phase 3399
29Alkylating AgentsPhase 2, Phase 34694
30Anti-HIV AgentsPhase 3, Phase 2, Phase 13100
31Pharmaceutical SolutionsPhase 2, Phase 3, Phase 17793
32Liver ExtractsPhase 2, Phase 33868
33
AcetylcysteineapprovedPhase 1, Phase 2316616-91-112035
Synonyms:
(2R)-2-acetylamino-3-Sulfanylpropanoic acid
(R)-2-acetylamino-3-Mercaptopropanoic acid
(R)-Mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
 
Fluprowit
L-Acetylcysteine
L-alpha-acetamido-beta-Mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
34
Vorinostatapproved, investigationalPhase 1, Phase 2242149647-78-95311
Synonyms:
149647-78-9
1zz1
AC-1923
AC1L1K2K
BRD-K81418486-001-10-3
C111237
CCRIS 8456
CHEBI:45716
CHEMBL98
CID5311
D06320
DB02546
EC-000.2057
FT-0082592
LS-186548
LS-186997
LS-187780
MK-0683
MK0683
MLS001065855
Merck brand of Vorinostat
MolPort-003-850-293
N'-hydroxy-N-phenyloctanediamide
N-Hydroxy-N'-phenyl octanediamide
N-Hydroxy-N'-phenyloctanediamide
N-Hyrdroxy-N'-phenyloctanediamide
N-hydroxy-N'-phenyl-octane-1,8-diotic acid diamide
N-hydroxy-N'-phenyloctanediamide
N1-hydroxy-N8-phenyloctanediamide
NCGC00168085-02
 
NHNPODA
NSC-701852
NSC701852
OCTANEDIOIC ACID HYDROXYAMIDE PHENYLAMIDE
Octanedioic acid hydroxyamide phenylamide
S1047_Selleck
SAHA
SAHA cpd
SAHA, Suberoylanilide hydroxamic acid
SHH
SKI390
SMR000486344
SW-064652
Suberanilohydroxamic acid
SuberoylaN/Aide hydroxamic acid
Suberoylanilide hydroxamic acid
UNII-58IFB293JI
Vorinostat
Vorinostat (JAN/USAN)
Vorinostat MSD
Vorinostat [USAN]
Vorinostatum
WIN64652
ZINC01543873
Zolinza
Zolinza (TN)
Zolinza, MK-0683, SAHA
m344
nchembio.275-comp2
nchembio.313-comp1
nchembio815-comp18
suberoylanilide hydroxamic acid
35
Celecoxibapproved, investigationalPhase 2435169590-42-52662
Synonyms:
169590-42-5
184007-95-2
1oq5
4-(5-(4-Methylphenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl)benzenesulfonamide
4-[5-(4-METHYLPHENYL)-3-(TRIFLUOROMETHYL)-1H-PYRAZOL-1-YL]BENZENESULFONAMIDE
4-[5-(4-methylphenyl)-3-(trifluoromethyl)-1Hpyrazol-1-yl] benzenesulfonamide
4-[5-(4-methylphenyl)-3-(trifluoromethyl)pyrazol-1-yl]benzenesulfonamide
AC-4228
AC1L1E6K
AI-525
BIDD:GT0408
BRD-K02637541-001-02-4
BSPBio_003596
Benzenesulfonamide,4-(5-(4-methylphenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl)
C07589
C105934
C17H14F3N3O2S
CCRIS 8679
CEL
CEP-33222
CHEBI:41423
CHEMBL118
CID2662
CPD000550473
Celebra
Celebrex
Celebrex (TN)
Celebrex, Celebra, Celecoxib
Celecox
Celecoxi
Celecoxib
Celecoxib (JAN/USAN/INN)
Celecoxib (SC-58635)
Celecoxib [Old RN]
Celecoxib [USAN]
Celecoxibum
Celocoxib
Célécoxib
D00567
DB00482
DivK1c_000893
Eurocox
FT-0080064
HMS1922G14
HMS2089L18
HMS2093I07
HMS502M15
HSDB 7038
I01-1033
IDI1_000893
KBio1_000893
KBio2_000912
 
KBio2_002351
KBio2_003480
KBio2_004919
KBio2_006048
KBio2_007487
KBio3_002830
KBio3_003037
KBioGR_000723
KBioGR_002351
KBioSS_000912
KBioSS_002354
LS-31667
MLS001165684
MLS001195656
MLS001304708
Medicoxib
MolPort-002-885-815
NCGC00091455-01
NCGC00091455-02
NCGC00091455-03
NCGC00091455-04
NCI60_041049
NINDS_000893
NSC719627
Onsenal
P-(5-P-Tolyl-3-(trifluoromethyl)pyrazol-1-yl)benzenesulfonamide
Pfizer brand of celecoxib
S1261_Selleck
SAM002589995
SC 58635
SC-58553, SC-58635
SC-58635
SC58635
SMR000550473
SPBio_001512
SPECTRUM1503678
Solexa
Spectrum2_001576
Spectrum3_001996
Spectrum4_000182
Spectrum5_001324
Spectrum_000432
TL8001323
TPI-336
UNM-0000305813
Xilebao
YM 177
YM-177
YM177
ZINC02570895
cMAP_000027
celecoxib
p-(5-p-Tolyl-3-(trifluoromethyl)pyrazol-1-yl)benzenesulfonamide
36
Mycophenolate mofetilapproved, investigationalPhase 2939128794-94-55281078
Synonyms:
115007-34-6
128794-94-5
140401-05-4
2-Morpholinoethyl (4E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (e)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-morpholin-4-ylethyl (4E)-6-[4-hydroxy-7-methyl-6-(methyloxy)-3-oxo-1,3-dihydro-2-benzofuran-5-yl]-4-methylhex-4-enoate
2-morpholin-4-ylethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)-4-methylhex-4-enoate
4-Hexenoic acid, 6-(1,3-dihydro-4-hydroxy-6-methoxy-7-methyl -3-oxo-5-isobenzofuranyl)-4-methyl-, 2-(4-morpholinyl)ethyl ester, (4E)
AC-1562
AC1NQXZW
AC1Q6O6X
AR-1J6939
BB_NC-2566
C07908
C23H31NO7
CHEMBL1456
CID5281078
CellCept
CellCept, RS 61443, TM-MMF, Mycophenolate mofetil
Cellcept
Cellcept (TN)
D00752
DB00688
HMS2090A03
 
HSDB 7436
I01-0898
I06-1947
LS-172272
LS-75572
ME-MPA
MMF
MMF CellCept(TM)
MolPort-000-883-800
Munoloc
Mycophenolate mofetil (JAN/USAN)
Mycophenolic acid morpholinoethyl ester
Mycophenylate mofetil
NCGC00159459-02
NCGC00159459-03
NSC724229
R-99
RS 61443
RS-61443
RS-61443-190
S1501_Selleck
TL8000648
TM-MMF
UNII-9242ECW6R0
ZINC21297660
mycophenolate mofetil
37
VidarabineapprovedPhase 251224356-66-932326, 21704
Synonyms:
(+)-Cyclaradine
.beta.-Adenosine
.beta.-D-Adenosine
1odi
2-(6-AMINO-purin-9-yl)-5-hydroxymethyl-tetrahydro-furan-3,4-diol
2946-52-3
2fqy
2gl0
30143-02-3
3080-29-3
3228-71-5
4005-33-8
46946-45-6
46969-16-8
524-69-6
5536-17-4
58-61-7
9-Arabinosyladenine
9-beta-D-Arabinofuranosyl-9H-purin-6-amine
9-beta-D-Arabinofuranosyl-adenine
9-beta-D-Arabinofuranosyladenine
9-beta-D-arabinofuranosyl-adenine
9-β-D-arabinofuranosyl-9H-purin-6-amine
9-β-D-arabinofuranosyladenine
A 9251
A0152
A4036_SIGMA
A4676_SIGMA
A5762_SIGMA
A9251_SIGMA
AC1L18OL
AC1L1U8O
AC1L2IWM
AC1L2SCM
AC1O4WIN
AC1O8PY7
AC1Q1ID3
AC1Q4Y1Z
AC1Q52XU
ADENOSINE, U.S.P.
ADN
AI3-52413
AI3-52821
AR-1H6029
ARA-A NSC 247519
Ade-Rib
Adenine Arabinoside
Adenine arabinoside
Adenine nucleoside
Adenine riboside
Adenine xyloside
Adenocard
Adenocard (TN)
Adenocard, Adenosine
Adenocor
Adenoscan
Adenoscan (TN)
Adenosin
Adenosin [German]
Adenosine (JAN/USP)
Adenosine [USAN:BAN]
Adenosine arabinose
Adenosine-8-14C
Adensoine
Ambap5536-17-4
Ara A
Ara-A
Ara-ATP
Araadenosine
Arabinoside Adenine
Arabinoside adenine
Arabinosyl Adenine
Arabinosyl adenine
Arabinosyl-adenine
Arabinosyladenine
Arasena-A
Armes
Armes (TN)
BB_NC-0565
BPBio1_000898
BRN 0624881
BSPBio_000816
BSPBio_001796
BSPBio_002000
Bio1_000437
Bio1_000926
Bio1_001415
Boniton
C00212
CAS-5536-17-4
CCRIS 2557
CCRIS 3383
CHEBI:136932
CHEBI:16335
CHEBI:45327
CHEMBL1090
CHEMBL20247
CHEMBL477
CI 673
CI-673
CID102198
CID191
CID21704
CID60961
CID6420052
CID6713976
CPD000471872
Caswell No. 010B
D000241
D00045
D06298
DB00640
DivK1c_000191
EINECS 200-389-9
EINECS 217-911-6
EINECS 226-893-9
EU-0100123
FT-0082881
HMS1570I18
HMS1920A13
HMS1921K05
HMS2090F06
HMS2091G13
HMS2092C16
HMS500J13
HSDB 6514
 
I01-1121
IDI1_000191
KBio1_000191
KBio2_002418
KBio2_004986
KBio2_007554
KBio3_001296
KBio3_001500
KBioGR_001224
KBioSS_002424
L000094
LS-15059
LS-15085
Lopac0_000123
MEDR-640
MLS000069638
MLS000699527
MLS001066352
MLS001333133
MLS001333134
MLS002153227
MLS002153992
MolPort-001-785-903
MolPort-001-838-229
MolPort-003-666-308
Myocol
NCGC00016656-01
NCGC00023673-03
NCGC00023673-04
NCGC00023673-05
NCGC00023673-06
NCGC00023673-07
NCGC00094579-01
NCGC00094579-02
NCGC00094579-03
NCGC00094579-04
NCGC00178869-01
NCGC00179417-01
NCI60_003823
NCI60_037192
NCIOpen2_003303
NCIOpen2_005376
NINDS_000191
NSC 247519
NSC 404241
NSC 627048
NSC 7359
NSC 7652
NSC-404241
NSC247519
NSC404241
NSC627048
NSC70422
NSC7359
NSC7652
NSC80832
NSC87676
NSC91041
Nucleocardyl
PDSP1_001036
PDSP2_001020
Pallacor
Polyadenosine
Polyriboadenosine
Prestwick0_000768
Prestwick1_000768
Prestwick2_000768
Prestwick3_000768
Prestwick_983
RAB
S1647_Selleck
S1784_Selleck
SAM002564191
SMP1_000312
SMR000058216
SMR000225041
SMR000471872
SMR001233326
SPBio_001194
SPBio_001491
SPBio_002755
SPECTRUM1500107
SPECTRUM1500609
SR 96225
SR-96225
STK361815
SUN-Y4001
Sandesin
Spectrum2_001257
Spectrum2_001336
Spectrum3_000288
Spectrum3_000580
Spectrum4_000782
Spectrum5_001429
Spectrum_001894
Spongoadenosine
TL8003749
UNII-3XQD2MEW34
UNII-K72T3FS567
USAF CB-10
V0098
VIRDARABINE
Vidarabin
Vidarabina
Vidarabina [DCIT]
Vidarabine
Vidarabine (JAN)
Vidarabine anhydrous
Vidarabinum
Vira ATM
Vira-A
Vira-A, Vidarabine
XA
Xylosyl A
Xylosyladenine
ZINC00970363
ZINC02169830
adenine-D-ribose
adenosine
alpha-Ara A
beta-Adenosine
beta-Ara A
beta-D-Adenosine
bmse000061
nchembio.143-comp9
nchembio.186-comp109
nchembio.64-comp4
nchembio706-5
38
Miconazoleapproved, investigational, vet_approvedPhase 2362422916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
39
Mycophenolic acidapprovedPhase 293924280-93-1446541
Synonyms:
(e)-6-(4-Hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoic acid
Acide mycophenolique
Acido micofenolico
Acidum mycophenolicum
 
Melbex
Micofenolico acido
Mycophenoic acid
Mycophenolate
Mycophenolsäure
Myfortic
40
Cyclosporineapproved, investigational, vet_approvedPhase 291579217-60-0, 59865-13-35284373, 6435893
Synonyms:
1c5f
1cyn
30024_FLUKA
30024_SIGMA
59865-13-3
79217-60-0
AC1L1EQW
AC1NQXJE
AC1NR4C4
AC1NUQK3
AC1NUZNC
AC1O5KOG
AC1Q2UDG
Ambap59865-13-3
Ambotz59865-13-3
Antibiotic S 7481F1
BMT-ABA-SAR-MLE-VAL-MLE-ALA-ALA-MLE-MLE-MVA
BMT-ABA-SAR-MLE-VAL-MLE-ALA-DAL-MLE-MLE-MVA
BPBio1_000496
BRD-A64290322-001-01-6
BRD-A69815203-001-04-3
BRD-K13533483-001-03-0
BSPBio_000450
BSPBio_001596
BSPBio_003186
C 3662
C05086
C1832_SIGMA
C3662_SIGMA
C62H111N11O12
CB-01-09 MMX
CHEBI:106343
CHEBI:328305
CHEBI:4031
CHEMBL160
CHEMBL386389
CHEMBL532318
CID2909
CID5280754
CID5284373
CID5458585
CID5497195
CID6435893
CSA
CYCLOSPORIN A (SEE ALSO TRANSGENIC MODEL EVALUATION (CYCLOSPORIN A))
CYCLOSPORIN A, USP
Ciclosporin
Ciclosporin (JP15)
Ciclosporina
Ciclosporine
Ciclosporinum
Cipol N
Cipol-N
Consupren
Consupren S
CsA
CsA & IFN.alpha.
CyA
Cyclokat
Cyclosporin
Cyclosporin A
Cyclosporin A & IFN.alpha.
Cyclosporin A Implant
Cyclosporin A, Tolypocladium inflatum
Cyclosporine (USP)
Cyclosporine A
Cyclosporine [USAN]
D00184
DE-076
DivK1c_000871
EU-0100242
Equoral
GNF-Pf-2808
Gengraf
Gengraf (TN)
HMS1569G12
HMS1791P18
HMS1921L20
HMS1989P18
HMS2089A09
HMS2092F06
HMS502L13
Helv Chim Acta 60: 1568 (1977)
 
I06-0379
I06-0966
IDI1_000871
KBio1_000871
KBio2_000780
KBio2_003348
KBio2_005916
KBio3_002686
KBioGR_001898
KBioSS_000780
LMPK14000003
LS-257
LS-58836
Lopac0_000242
MLS000028376
MLS001333756
MLS002153454
MLS002207033
Mitogard
Modusik-A
MolPort-000-760-988
MolPort-005-934-008
MolPort-006-705-994
NCGC00093704-01
NCGC00093704-02
NCGC00093704-03
NCGC00093704-04
NCGC00093704-05
NCGC00093704-06
NCGC00093704-07
NCGC00093704-08
NCGC00164258-01
NCGC00164258-02
NINDS_000871
NSC290193
Neoplanta
Neoral
Neoral (TN)
NeuroSTAT
Nova-22007
OL 27-400
OL-27400
OLO-400
Papilock
Prestwick2_000435
Prestwick3_000435
Prestwick_731
Pulminiq
Ramihyphin A
Restasis
Restasis (TN)
S-Neoral
S1514_Selleck
SDZ-OXL 400
SMR000058578
SPBio_001467
SPECTRUM1502202
ST-603
Sandimmun
Sandimmun Neoral
Sandimmune
Sandimmune (TN)
Sandimmune, Gengraf, Restasis, Atopica, Sangcya, Cyclosporine
Sang-2000
Sang-35
SangCyA
Sangcya
Sigmasporin
Sigmasporin Microoral
Spectrum2_001484
Spectrum3_001593
Spectrum4_001279
Spectrum5_001628
Spectrum_000300
TRANSGENIC MODEL EVALUATION (CYCLOSPORIN A)
Vekacia
Zyclorin
cyclophorine
cyclosporin A
cyclosporine
from Tolypocladium inflatum (Trichoderma polysporin)
nchembio.184-comp6
nchembio.301-comp5
nchembio.342-comp1
41
MesnaapprovedPhase 225819767-45-4, 3375-50-6598
Synonyms:
2-Mercaptoethanesulfonate
2-Mercaptoethanesulfonic acid
 
2-mercaptoethane sulfonate Na
CoM
Coenzyme M
HS-CoM
42
FludarabineapprovedPhase 2111321679-14-1, 75607-67-930751
Synonyms:
(2R,3S,4S,5R)-2-(6-amino-2-fluoro-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3S,4S,5R)-2-(6-amino-2-fluoropurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
2-F-ARAA
2-F-ara-A
2-Fluoro Ara-A
2-Fluoro-9-beta-D-arabinofuranosyladenine
2-fluoro ARA-A
21679-14-1
9-beta-D-Arabinofuranosyl-2-fluoroadenine
9-beta-D-arabinofuranosyl-2-fluoro-9H-purin-6-amine
9H-Purin-6-amine, 9-beta-D-arabinofuranosyl-2-fluoro- (9CI)
AC1LCW8I
AC1Q51CF
C10H12FN5O4
CCRIS 3382
CHEMBL1568
CID657237
CPD000058874
D07966
EINECS 244-525-5
F-Ara-A
FAMP
FT-0082766
FaraA
Fludara
Fludara, Fludarabine
 
Fludarabina
Fludarabina [Spanish]
Fludarabine
Fludarabine (INN)
Fludarabine 5'-monophosphate
Fludarabine [INN]
Fludarabine monophosphate
Fludarabine phosphate
Fludarabinum
Fludarabinum [Latin]
Fludura
Fluradosa
Fluradosa (TN)
HSDB 6964
I14-4978
LS-15061
MLS000028687
NSC 118218
NSC 118218H
NSC-118218
S1491_Selleck
SAM002548956
SMR000058874
SQ Fludarabine
UNII-1X9VK9O1SC
UNII-P2K93U8740
ZINC04216238
43
LenograstimapprovedPhase 21202135968-09-1
Synonyms:
G-CSF (CHO cell derived)
Glycosylated recombinant G-CSF
Glycosylated recombinant granulocyte colony stimulating factor
 
Granulocyte colony stimulating factor 3 (CHO cell derived)
Granulocyte colony-stimulating factor lenograstim
Lenograstim (genetical recombination)
Lenograstim rDNA
44
alemtuzumabapproved, investigationalPhase 2303216503-57-0
Synonyms:
Campath
 
MabCampath
alemtuzumab
45
Folic Acidapproved, nutraceutical, vet_approvedPhase 2427959-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
46
Vitamin Eapproved, nutraceutical, vet_approvedPhase 240659-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-Tocopherol
(+)-α-tocopherol
(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-TRIMETHYLTRIDECYL]CHROMAN-6-OL
(2R)-3,4-Dihydro-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol
(2R,4'R,8'R)-a-Tocopherol
(2R,4'R,8'R)-alpha-Tocopherol
(2R,4'R,8'R)-α-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
5,7,8-trimethyltocol
Amino-Opti-E
Aquasol E
D-alpha-Tocopherol
Daltose
Denamone
E-200 I.U. Softgels
 
E-Complex-600
E-Ferol
E-Vitamin succinate
Eprolin
Gordo-Vite E
Phytogermin
Phytogermine
RRR-alpha-tocopherol
RRR-alpha-tocopheryl
Tocopherol
Vitamin E
Vitamin Ea
Vitamin Plus E Softgells
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
47Histone Deacetylase InhibitorsPhase 1, Phase 2566
48N-monoacetylcystinePhase 1, Phase 2316
49ExpectorantsPhase 1, Phase 2388
50AntioxidantsPhase 1, Phase 22928

Interventional clinical trials:

(show all 41)
idNameStatusNCT IDPhase
1Application of Miglustat in Patients With Niemann-Pick Type CCompletedNCT01760564Phase 3
2Stem Cell Transplant for Inborn Errors of MetabolismCompletedNCT00176904Phase 2, Phase 3
3Effects of Selective Inhibition of Cholesterol Absorption With Ezetimibe on Intestinal Cholesterol Homeostasis in Dyslipidemic Men With Insulin-resistance - a Pilot StudyCompletedNCT01849068Phase 3
4Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type CRecruitingNCT02612129Phase 2, Phase 3
5Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase DeficiencyRecruitingNCT02004691Phase 2, Phase 3
6Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) to Treat Niemann-Pick Type C1 (NPC1) DiseaseRecruitingNCT02534844Phase 2, Phase 3
7SurVival of Lysosomal Acid Lipase Deficiency (LAL-D) Infants Treated With SebelipAse aLfaActive, not recruitingNCT01371825Phase 2, Phase 3
8ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic DiseasesTerminatedNCT00654433Phase 3
9Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102TerminatedNCT01473875Phase 2, Phase 3
10Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1CompletedNCT02124083Phase 1, Phase 2
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
13Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood CellsCompletedNCT00730314Phase 1, Phase 2
14A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase DeficiencyRecruitingNCT02004704Phase 2
15Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase DeficiencyRecruitingNCT02292654Phase 1, Phase 2
16MT2013-31: Allo HCT for Metabolic Disorders and Severe OsteopetrosisRecruitingNCT02171104Phase 2
17Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic DisordersActive, not recruitingNCT01372228Phase 1, Phase 2
18Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase DeficiencyActive, not recruitingNCT02193867Phase 2
19Study of Pharmacokinetics and Preliminary Efficacy in Patients With Niemann-Pick C1Not yet recruitingNCT02912793Phase 1, Phase 2
20Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of MetabolismTerminatedNCT00668564Phase 2
21Tolerability and Safety Study of Recombinant Human Acid Sphingomyelinase in Acid Sphingomyelinase Deficiency PatientsCompletedNCT01722526Phase 1
22Saccadic Eye Movements in Patients With Niemann-Pick Type C DiseaseCompletedNCT00316498Phase 1
23Human Placental-Derived Stem Cell TransplantationRecruitingNCT01586455Phase 1
24UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like CellsRecruitingNCT02254863Phase 1
25Pilot Study of Ezetimibe for Chronic Hepatitis C Virus (HCV) InfectionRecruitingNCT02126137Phase 1
26Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 DiseaseActive, not recruitingNCT01747135Phase 1
27Study of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1)Not yet recruitingNCT02939547Phase 1
28Safety Study of rhASM Enzyme Replacement Therapy in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease)TerminatedNCT00410566Phase 1
29Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell TransplantationUnknown statusNCT00005900
30Study of Changes in Total Cholesterol Levels as a Function of Consuming a Supplement Designed to Improve Cardiovascular HealthUnknown statusNCT01890889
31Longitudinal Study of Cognition With Niemann-Pick Disease, Type CCompletedNCT01899950
32PET Scan of Brain Metabolism in Relation to Age and DiseaseCompletedNCT00001972
33Plant Stanols and Gene Expression ProfileCompletedNCT01574417
34Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type CRecruitingNCT00344331
35Biomarker for Niemann Pick Type C DiseaseRecruitingNCT01306604
36A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type CRecruitingNCT02435030
37Investigating Lysosomal Storage Diseases in Minority GroupsRecruitingNCT02120235
38Molecular and Cellular Mechanisms of Lysosomal Storage DiseasesRecruitingNCT02000310
39Genetic Characterization of Movement Disorders and DementiasRecruitingNCT02014246
40Screening of Niemann-Pick Disease, Type C in a Psychiatric PopulationTerminatedNCT02841358
41A Study to Identify and Characterize LAL-D Patients in High-risk PopulationsTerminatedNCT02345421

Search NIH Clinical Center for Niemann-Pick Disease

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Niemann-Pick Disease cell therapies at LifeMap Discovery.

Genetic Tests for Niemann-Pick Disease

About this section

Genetic tests related to Niemann-Pick Disease:

id Genetic test Affiliating Genes
1 Sphingomyelin/cholesterol Lipidosis26
2 Niemann-Pick Disease Type C24

Anatomical Context for Niemann-Pick Disease

About this section

MalaCards organs/tissues related to Niemann-Pick Disease:

35
Liver, Bone, Brain, Bone marrow, Skin, Lung, Testes

Animal Models for Niemann-Pick Disease or affiliated genes

About this section

MGI Mouse Phenotypes related to Niemann-Pick Disease:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.5CES1, GAD1, GBA, LCAT, NPC1, NPC1L1
2MP:00053708.3CES1, GBA, LCAT, NPC1, NPC1L1, NPC2
3MP:00053888.2GAD1, GBA, NPC1, NPC2, PSAP, SMPD1
4MP:00053847.9GAD1, GBA, M6PR, NPC1, NPC2, PSAP
5MP:00036317.5APOD, GAD1, GBA, NPC1, NPC2, PSAP
6MP:00053787.3GAD1, GBA, M6PR, NPC1, NPC1L1, NPC2
7MP:00107687.2APOD, GAD1, GBA, M6PR, NPC1, NPC2
8MP:00053866.6APOD, CES1, GAD1, GBA, M6PR, NPC1
9MP:00053765.9APOD, CES1, GAD1, GBA, LCAT, M6PR

Publications for Niemann-Pick Disease

About this section

Articles related to Niemann-Pick Disease:

(show top 50)    (show all 602)
idTitleAuthorsYear
1
The new obesity-associated protein, neuronal growth regulator 1 (NEGR1), is implicated in Niemann-Pick disease Type C (NPC2)-mediated cholesterol trafficking. (27940359)
2017
2
Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C. (28092091)
2017
3
Niemann-Pick Disease Type B in a 21 Year Old Male. (27277377)
2016
4
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
5
Altered Clathrin-Independent Endocytosis in Type A Niemann-Pick Disease Cells and Rescue by ICAM-1-Targeted Enzyme Delivery. (25849869)
2015
6
Hearing loss is an early consequence of Npc1 gene deletion in the mouse model of Niemann-Pick disease, type C. (24839095)
2014
7
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
8
Improved neuroprotection using miglustat, curcumin and ibuprofen as a triple combination therapy in Niemann-Pick disease type C1 mice. (24631719)
2014
9
Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients. (24915861)
2014
10
The useful preliminary diagnosis of Niemann-Pick disease type C by filipin test in blood smear. (24001525)
2013
11
Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B. (22718274)
2013
12
Effects of miglustat on stabilization of neurological disorder in niemann-pick disease type C: Iranian pediatric case series. (23143717)
2013
13
Teaching video neuroimages: gelastic cataplexy as the first neurologic manifestation of Niemann-Pick disease type C. (23183285)
2012
14
Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C. (22326530)
2012
15
Plasma cell myeloma with intracytoplasmic crystalloid inclusions, mimicking a Niemann-Pick disease. (22591329)
2012
16
Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B). (22613999)
2012
17
Defining natural history: assessment of the ability of college students to aid in characterizing clinical progression of Niemann-Pick disease, type C. (21984891)
2011
18
Response: Sample size and statistical comparisons of GVHD rates in pediatric Niemann-Pick disease patients. (20075176)
2010
19
A case of a Korean adult affected by type B Niemann-Pick disease: secondary sea-blue histiocytosis and molecular characterization]. (19411774)
2009
20
Chemical synthesis of 3beta-sulfooxy-7beta-hydroxy-24-nor-5-cholenoic acid: an internal standard for mass spectrometric analysis of the abnormal delta5-bile acids occurring in Niemann-Pick disease. (19394355)
2009
21
Treatment of a child diagnosed with Niemann-Pick disease type C with miglustat: a case report in Brazil. (18937049)
2008
22
Prenatal revelation of Niemann-Pick disease type C in siblings. (18554276)
2008
23
Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann-Pick disease. (15702402)
2005
24
Substance P immunoreactive cell reductions in cerebral cortex of Niemann-Pick disease type C mouse. (15862536)
2005
25
Comparative effects of recombinant acid sphingomyelinase administration by different routes in niemann-pick disease mice. (15516789)
2004
26
Signaling pathway for radiation-induced apoptosis in the lymphoblasts from neuronopathic (type A) and non-neuronopathic (type B) forms of Niemann-Pick disease. (12084440)
2002
27
Sites and temporal changes of gangliosides GM1/GM2 storage in the Niemann-Pick disease type C mouse brain. (11578853)
2001
28
An enzymatic assay for quantifying sphingomyelin in tissues and plasma from humans and mice with Niemann-Pick disease. (11399033)
2001
29
Accumulation of cholesterol and GM2 ganglioside in cells cultured in the presence of progesterone: an implication for the basic defect in Niemann-Pick disease type C. (9533562)
1998
30
Phenotypic and genetic heterogeneity in Niemann-Pick disease type C: current knowledge and practical implications. (9060145)
1997
31
Neurofibrillary tangles in Niemann-Pick disease type C. (7754743)
1995
32
Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease). (7600574)
1995
33
Marked heterogeneity in Niemann-Pick disease, type C. Clinical and ultrastructural findings. (7789012)
1995
34
Complementation studies in Niemann-Pick disease type C indicate the existence of a second group. (8071958)
1994
35
Sphingomyelinase enzyme assay in Niemann-Pick disease. (8262595)
1993
36
Type C Niemann-Pick disease in a boxer dog. (8460536)
1993
37
Linkage of Niemann-Pick disease type C to human chromosome 18. (8446622)
1993
38
Filipin test for diagnosis of Niemann-Pick disease type C. (7992006)
1993
39
Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann- Pick disease patients. (1391960)
1992
40
Sea-blue histiocytosis in a family with Niemann-Pick disease. A clinical, morphological and biochemical study. (1585241)
1992
41
Niemann-Pick disease types C and D. (2646522)
1989
42
Niemann-Pick disease in the Chinese. A report of four cases in three Chinese families. (2626275)
1989
43
Niemann-Pick disease type C could result from a genetic deficiency of cholesterol egress from the lysosomes. (2516179)
1989
44
Clinical improvement with DMSO treatment in a patient with Niemann-Pick disease (type C). (3150242)
1988
45
Pseudo-osteomyelitis in Niemann-Pick disease. (3402156)
1988
46
Niemann-Pick disease type C. Skin biopsies in parents. (3014367)
1986
47
Juvenile dystonic lipidosis (variant of Niemann-Pick disease type C). (6520612)
1984
48
Liver findings in Niemann-Pick disease type C. (6150908)
1984
49
Niemann-Pick disease: lipid storage in bone marrow macrophages. (6654690)
1983
50
Antenatal diagnosis of Niemann-Pick disease in a twin pregnancy. (7328615)
1981

Variations for Niemann-Pick Disease

About this section

Clinvar genetic disease variations for Niemann-Pick Disease:

5 (show all 38)
id Gene Variation Type Significance SNP ID Assembly Location
1SMPD1NM_000543.4(SMPD1): c.739G> A (p.Gly247Ser)SNVLikely pathogenic, Pathogenicrs587779408GRCh37Chr 11, 6413034: 6413034
2SMPD1NM_000543.4(SMPD1): c.354delC (p.Ile119Serfs)deletionLikely pathogenic, Pathogenicrs727504165GRCh37Chr 11, 6412649: 6412649
3SMPD1NM_000543.4(SMPD1): c.475T> C (p.Cys159Arg)SNVPathogenicrs727504166GRCh37Chr 11, 6412770: 6412770
4SMPD1NM_000543.4(SMPD1): c.573delT (p.Ser192Alafs)deletionPathogenicrs727504167GRCh37Chr 11, 6412868: 6412868
5SMPD1NM_000543.4(SMPD1): c.785_807del23 (p.Leu262Argfs)deletionPathogenicrs794727252GRCh37Chr 11, 6413080: 6413102
6SMPD1NM_000543.4(SMPD1): c.558_559insT (p.Pro187Serfs)insertionPathogenicrs756366019GRCh37Chr 11, 6412853: 6412854
7SMPD1NM_000543.4(SMPD1): c.1829_1831delGCC (p.Arg610del)deletionPathogenicrs120074118GRCh37Chr 11, 6415770: 6415772
8NPC2NM_006432.3(NPC2): c.332delA (p.Asn111Ilefs)deletionPathogenicrs80358265GRCh37Chr 14, 74951149: 74951149
9SMPD1NM_000543.4(SMPD1): c.1426C> T (p.Arg476Trp)SNV, CompoundHeterozygoteLikely pathogenic, Pathogenicrs182812968GRCh37Chr 11, 6415211: 6415211
10SMPD1NM_001007593.2(SMPD1): c.792delG (p.Leu265Trpfs)deletionPathogenicrs875989832GRCh38Chr 11, 6391860: 6391860
11SMPD1NM_001007593.2(SMPD1): c.518_519insT (p.Ser174Ilefs)insertionPathogenicrs875989833GRCh37Chr 11, 6412816: 6412817
12SMPD1NM_001007593.2(SMPD1): c.1488_1500delCCGTGTGTACCAA (p.Tyr496Terfs)deletionPathogenicrs875989834GRCh38Chr 11, 6394202: 6394214
13SMPD1NM_001007593.2(SMPD1): c.562_563insC (p.Lys188Thrfs)insertionPathogenicrs875989835GRCh37Chr 11, 6412860: 6412861
14SMPD1NM_001007593.2(SMPD1): c.1670T> C (p.Leu557Pro)SNVPathogenicrs875989836GRCh38Chr 11, 6394384: 6394384
15SMPD1NM_001007593.2(SMPD1): c.949G> A (p.Val317Met)SNVPathogenicrs875989837GRCh38Chr 11, 6392017: 6392017
16SMPD1NM_001007593.2(SMPD1): c.1495T> A (p.Tyr499Asn)SNVPathogenicrs771336819GRCh38Chr 11, 6394209: 6394209
17SMPD1NM_000543.4(SMPD1): c.114delG (p.Leu39Trpfs)deletionLikely pathogenic, Pathogenicrs886043098GRCh37Chr 11, 6411942: 6411942
18NPC1NM_000271.4(NPC1): c.3019C> G (p.Pro1007Ala)SNVPathogenicrs80358257GRCh37Chr 18, 21118528: 21118528
19SMPD1NM_000543.4(SMPD1): c.1493G> T (p.Arg498Leu)SNVPathogenicrs120074117GRCh37Chr 11, 6415434: 6415434
20SMPD1NM_000543.4(SMPD1): c.1735G> A (p.Gly579Ser)SNVPathogenicrs120074119GRCh37Chr 11, 6415676: 6415676
21SMPD1NM_000543.4(SMPD1): c.1314C> A (p.Ser438Arg)SNVPathogenicrs267607073GRCh37Chr 11, 6414897: 6414897
22SMPD1NM_000543.4(SMPD1): c.788T> A (p.Leu263Ter)SNVPathogenicrs120074120GRCh37Chr 11, 6413083: 6413083
23SMPD1SMPD1, 2-BP DEL, LEU178FSdeletionPathogenicChr na, -1: -1
24SMPD1NM_000543.4(SMPD1): c.1152G> A (p.Met384Ile)SNVPathogenicrs120074121GRCh37Chr 11, 6414506: 6414506
25SMPD1NM_000543.4(SMPD1): c.730G> A (p.Gly244Arg)SNVPathogenicrs120074122GRCh37Chr 11, 6413025: 6413025
26SMPD1NM_000543.4(SMPD1): c.1154A> G (p.Asn385Ser)SNVPathogenicrs120074123GRCh37Chr 11, 6414508: 6414508
27SMPD1NM_000543.4(SMPD1): c.911T> C (p.Leu304Pro)SNVPathogenicrs120074124GRCh37Chr 11, 6413206: 6413206
28SMPD1NM_000543.4(SMPD1): c.996delC (p.Phe333Serfs)deletionPathogenicrs387906289GRCh37Chr 11, 6413291: 6413291
29SMPD1NM_000543.4(SMPD1): c.1267C> T (p.His423Tyr)SNVPathogenicrs120074126GRCh37Chr 11, 6414850: 6414850
30SMPD1NM_000543.4(SMPD1): c.1327C> T (p.Arg443Ter)SNVPathogenicrs120074127GRCh37Chr 11, 6414910: 6414910
31SMPD1NM_000543.4(SMPD1): c.880C> A (p.Gln294Lys)SNVPathogenicrs120074128GRCh37Chr 11, 6413175: 6413175
32SMPD1NM_000543.4(SMPD1): c.1451C> A (p.Ala484Glu)SNVPathogenicrs267607075GRCh37Chr 11, 6415236: 6415236
33SMPD1NM_000543.4(SMPD1): c.1406A> C (p.Tyr469Ser)SNVPathogenicrs267607074GRCh37Chr 11, 6415191: 6415191
34SMPD1NM_000543.4(SMPD1): c.1092-1G> CSNVLikely pathogenic, Pathogenicrs398123474GRCh37Chr 11, 6414445: 6414445
35SMPD1NM_000543.4(SMPD1): c.1420_1421delCT (p.Leu474Glufs)deletionPathogenicrs398123476GRCh37Chr 11, 6415205: 6415206
36SMPD1NM_000543.4(SMPD1): c.1624C> T (p.Arg542Ter)SNVPathogenicrs398123478GRCh37Chr 11, 6415565: 6415565
37SMPD1NM_000543.4(SMPD1): c.757G> C (p.Asp253His)SNVPathogenicrs398123479GRCh37Chr 11, 6413052: 6413052
38SMPD1NM_000543.4(SMPD1): c.842_849dupTCCCCGCA (p.His284Serfs)duplicationPathogenicrs281860677GRCh37Chr 11, 6413137: 6413144

Expression for genes affiliated with Niemann-Pick Disease

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Search GEO for disease gene expression data for Niemann-Pick Disease.

Pathways for genes affiliated with Niemann-Pick Disease

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GO Terms for genes affiliated with Niemann-Pick Disease

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Cellular components related to Niemann-Pick Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:004320210.1GBA, PSAP, SMPD1
2lysosomeGO:00057649.2CHIT1, MIR4709, NPC1, NPC2, SMPD1
3lysosomal membraneGO:00057659.0GBA, M6PR, NPC1, PSAP
4extracellular spaceGO:00056157.5APOD, CCL18, CES1, CHIT1, GBA, LCAT

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1regulation of isoprenoid metabolic processGO:001974710.6MIR4709, NPC2
2intracellular sterol transportGO:003236610.6MIR4709, NPC2
3termination of signal transductionGO:002302110.5GBA, SMPD1
4intracellular cholesterol transportGO:003236710.5MIR4709, NPC2
5phospholipid transportGO:001591410.5MIR4709, NPC2
6glycolipid transportGO:004683610.4MIR4709, NPC2
7cholesterol effluxGO:003334410.4MIR4709, NPC1, NPC2
8ceramide biosynthetic processGO:004651310.2GBA, SMPD1
9response to bacteriumGO:000961710.1CHIT1, TLR4
10positive regulation of protein dephosphorylationGO:003530710.1GBA, SMPD1
11negative regulation of interleukin-6 productionGO:003271510.0GBA, TLR4
12cholesterol transportGO:00303019.6LCAT, MIR4709, NPC1, NPC1L1, NPC2
13cholesterol homeostasisGO:00426329.6LCAT, MIR4709, NPC1, NPC2
14cholesterol metabolic processGO:00082039.5LCAT, MIR4709, NPC1, NPC2
15response to drugGO:00424939.0APOD, GAD1, NPC1, NPC1L1, SMPD1
16glycosphingolipid metabolic processGO:00066878.9GBA, PSAP, SMPD1, UGCG, UGT8

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

idNameGO IDScoreTop Affiliating Genes
1cholesterol bindingGO:00154859.5APOD, MIR4709, NPC1, NPC2

Sources for Niemann-Pick Disease

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