MCID: NMN002
MIFTS: 59

Niemann-Pick Disease malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Respiratory diseases, Metabolic diseases, Immune diseases categories

Aliases & Classifications for Niemann-Pick Disease

About this section
Sources:
65UMLS, 36MeSH, 32LifeMap Discovery®, 10Disease Ontology, 68Wikipedia, 23Genetics Home Reference, 46NINDS, 12DISEASES, 45NIH Rare Diseases, 51Orphanet, 22GeneTests, 21GeneReviews, 24GTR, 47Novoseek, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Niemann-Pick Disease:

Name: Niemann-Pick Disease 32 10 68 23 46 12
Sphingomyelinase Deficiency 45 23 65
Niemann-Pick Disease Type B 10 45 51
Niemann-Pick Disease Type a 10 45 51
Sphingomyelin Lipidosis 10 45 23
Niemann-Pick Diseases 47 65 36
Sphingomyelin/cholesterol Lipidosis 23 24
Juvenile Niemann-Pick Disease 21 22
Niemann-Pick Disease, Type C 22 65
Niemann-Pick Disease, Type a 65 36
Niemann-Pick Disease, Type B 65 36
Type a Niemann-Pick Disease 10 22
Niemann-Pick Disease Type C 10 21
 
Niemann Pick Disease Type B 45 22
Lipoid Histiocytosis 10 65
Niemann-Pick Disease with Cholesterol Esterification Block 10
Niemann-Pick Disease, Subacute Juvenile Form 10
Sphingomyelinase Deficiency Disease 10
Neuronal Cholesterol Lipidosis 23
Niemann-Picks Disease Type B 47
Lipid Histiocytosis 23
Neuronal Lipidosis 23
Niemann-Pick 68
Npd Type B 22
Npd Type a 22
Npd 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
niemann-pick disease type b:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: young Adult
niemann-pick disease type a:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood


External Ids:

Disease Ontology10 DOID:14504
NCIt42 C61269
Orphanet51 77293, 77292
SNOMED-CT59 58459009, 66751000
ICD10 via Orphanet28 E75.2
MESH via Orphanet37 D052537, D052536
UMLS via Orphanet66 C0268243, C0268242

Summaries for Niemann-Pick Disease

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NIH Rare Diseases:45 Niemann-pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body. in people with this condition, abnormal lipid metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain. niemann-pick disease type a appears during infancy and is characterized by an enlarged liver and spleen (hepatosplenomegaly), failure to gain weight and grow at the expected rate (failure to thrive), and progressive deterioration of the nervous system. due to the involvement of the nervous system, niemann-pick disease type a is also known as the neurological type. there is currently no effective treatment for this condition and those who are affected generally do not survive past early childhood. niemann-pick disease type a is caused by mutations in the smpd1 gene. it is inherited in an autosomal recessive pattern.  last updated: 4/17/2014

MalaCards based summary: Niemann-Pick Disease, also known as sphingomyelinase deficiency, is related to niemann-pick disease, type a and niemann-pick disease type c, adult neurologic onset. An important gene associated with Niemann-Pick Disease is SMPD1 (Sphingomyelin Phosphodiesterase 1, Acid Lysosomal), and among its related pathways are Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF) and Sphingolipid metabolism. Affiliated tissues include bone, liver and bone marrow, and related mouse phenotypes are respiratory system and cardiovascular system.

Genetics Home Reference:23 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.

NINDS:46 Niemann-Pick disease (NP) refers to a group of inherited metabolic disorders known as lipid storage diseases.

GeneReviews summary for npc

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
Niemann-Pick Disease Type E

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

(show top 50)    (show all 238)
idRelated DiseaseScoreTop Affiliating Genes
1niemann-pick disease, type a31.6CHIT1, SMPD1, UGT8
2niemann-pick disease type c, adult neurologic onset31.1NPC1, NPC2
3niemann-pick disease type c, juvenile neurologic onset31.1NPC1, NPC2
4niemann-pick disease type c, severe early infantile neurologic onset31.0NPC1, NPC2
5mucolipidosis ii alpha/beta30.4M6PR, PSAP, SMPD1
6hypoalphalipoproteinemia30.0GBA, LCAT
7pick disease11.6
8niemann-pick disease, type c111.1
9niemann-pick disease, type b11.1
10acid sphingomyelinase deficiency10.9
11niemann-pick disease, type c210.8
12histiocytosis10.8
13neuronitis10.7
14lysosomal storage disease10.7
15sphingolipidosis10.7
16hepatitis10.6
17dementia10.6
18neurologic diseases10.6
19dementia, frontotemporal10.6
20frontotemporal lobar degeneration with ubiquitin-positive inclusions10.6
21speech and communication disorders10.6
22cerebral lipidosis10.6
23subacute delirium10.6
24metabolic syndrome x10.6
25amnestic disorder10.6
26aphasia10.6
27central nervous system disease10.6
28cerebral degeneration10.6
29lipid metabolism disorder10.6
30lipid storage disease10.6
31lymphatic system disease10.6
32nervous system disease10.6
33non-langerhans-cell histiocytosis10.6
34nutritional deficiency disease10.6
35prion disease10.6
36speech disorder10.6
37degenerative nerve diseases10.6
38genetic brain disorders10.6
39grn-related frontotemporal dementia10.6
40semantic dementia10.6
41frontotemporal dementia with parkinsonism-1710.6
42encephalopathy10.6
43niemann-pick disease type e10.6
44dysphagia10.5
45spinal and bulbar muscular atrophy of kennedy10.4
46liver disease10.4
47cerebritis10.4
48disease of mental health10.4
49physical disorder10.4
50developmental dysphasia familial10.4

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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Drugs & Therapeutics for Niemann-Pick Disease

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

(show all 42)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MethylprednisoloneapprovedPhase 2, Phase 3103383-43-26741
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
2
PrednisoloneapprovedPhase 2, Phase 3103350-24-85755
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
3
MiglustatapprovedPhase 3, Phase 2, Phase 12072599-27-051634
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
4
Cyclophosphamideapproved, investigationalPhase 2, Phase 3252550-18-0, 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
5
Busulfanapproved, investigationalPhase 2, Phase 348655-98-12478
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)
6
EzetimibeapprovedPhase 3, Phase 1252163222-33-1150311
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
7Prednisolone phosphatePhase 2, Phase 31033
8Prednisolone hemisuccinatePhase 2, Phase 31033
9Prednisolone acetatePhase 2, Phase 31033
10Antilymphocyte SerumPhase 2, Phase 3376
11Methylprednisolone acetatePhase 2, Phase 31033
12Methylprednisolone HemisuccinatePhase 2, Phase 31033
13Insulin, Globin ZincPhase 34069
14insulinPhase 34069
15
AcetylcysteineapprovedPhase 1, Phase 2280616-91-112035
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
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
 
Flumucetin
Fluprowit
L-Acetylcysteine
L-alpha-acetamido-beta-Mercaptopropionic acid
Mercapturic acid
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
Sodium 2-acetamido-3-mercaptopropionate
16
FludarabineapprovedPhase 2100821679-14-1, 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-ara-A
2-Fluoro Ara-A
2-Fluoro-9-beta-D-arabinofuranosyladenine
2-Fluoro-ara AMP
2-Fluoroadenine arabinoside 5'-monophosphate
21679-14-1
2F-Ara-AMP
9-beta-Arabinofuranosyl-2-fluoroadenine-5'-phosphate
9-beta-D-Arabinofuranosyl-2-fluoroadenine
9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphate)
9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-monophosphate
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 Phosphate
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
Oforta
S1491_Selleck
SAM002548956
SMR000058874
SQ Fludarabine
UNII-1X9VK9O1SC
UNII-P2K93U8740
ZINC04216238
17
Mycophenolic acidapprovedPhase 286424280-93-1446541
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
Mycophenolic Acid
Mycophenolsaeure
Myfortic
18
Mycophenolate mofetilapproved, investigationalPhase 2864128794-94-55281078
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
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
19
Celecoxibapproved, investigationalPhase 2395169590-42-52662
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
20
Vorinostatapproved, investigationalPhase 1, Phase 2234149647-78-95311
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
21
alemtuzumabapproved, investigationalPhase 2293216503-57-0
Synonyms:
Campath
 
Lemtrada
Mabcampath
alemtuzumab
22
Folic Acidapproved, nutraceuticalPhase 2285159-30-36037
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
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
23
Vitamin Eapproved, nutraceuticalPhase 235059-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-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)-alpha-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-alpha-tocopherol
(R,R,R)-α-tocopherol
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
Vitamin e
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
d-alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
24N-monoacetylcystinePhase 1, Phase 2280
25ExpectorantsPhase 1, Phase 2320
26Thioctic AcidPhase 297
27Vitamin B ComplexPhase 22775
28TocopherolsPhase 2355
29KrestinPhase 2184
30CyclosporinsPhase 2849
31Fludarabine phosphatePhase 2100830751
32TocotrienolsPhase 2352
33lenograstimPhase 21108
34
MesnaPhase 22333375-50-6598
Synonyms:
2-Mercaptoethanesulfonate
2-Mercaptoethanesulfonic acid
 
CoM
Coenzyme M
HS-CoM
35cysteineNutraceuticalPhase 1, Phase 2143
36FolateNutraceuticalPhase 22851
37TocotrienolNutraceuticalPhase 2352
38Alpha-lipoic AcidNutraceuticalPhase 297
39Vitamin B9NutraceuticalPhase 22851
40TocopherolNutraceuticalPhase 2355
41
BetadexPhase 1127585-39-9320761
Synonyms:
Betadex, INN, USAN
Cyclo-hepta-amylose
Cycloheptaamylose
Cycloheptaglucan
Cycloheptaglucosan
Cycloheptakis-(1->4)-(a-D-glucopyranose)
Cycloheptamaltose
 
Cycloheptapentylose
Cyclomaltoheptaose
E459
b-Schardinger dextran
beta -cycloamylose
beta -cyclodextrin
beta -cycloheptaamylose
beta Cyclodextrin, USAN
beta-Cyclodextrin
42PhytosterolNutraceutical85

Interventional clinical trials:

(show all 37)
idNameStatusNCT IDPhase
1Application of Miglustat in Patients With Niemann-Pick Type CCompletedNCT01760564Phase 3
2Stem Cell Transplant for Inborn Errors of MetabolismCompletedNCT00176904Phase 2, Phase 3
3Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase DeficiencyRecruitingNCT02004691Phase 2, Phase 3
4Study of 2-hydroxypropyl-β-cyclodextrin (VTS-270) to Treat Niemann-Pick Type C1 (NPC1) DiseaseRecruitingNCT02534844Phase 2, Phase 3
5Effects of Selective Inhibition of Cholesterol Absorption With Ezetimibe on Intestinal Cholesterol Homeostasis in Dyslipidemic Men With Insulin-resistance - a Pilot StudyRecruitingNCT01849068Phase 3
6Trial in Children With Growth Failure Due to Early Onset Lysosomal Acid Lipase (LAL) Deficiency/Wolman DiseaseActive, not recruitingNCT01371825Phase 2, Phase 3
7Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type CNot yet recruitingNCT02612129Phase 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
10Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl CysteineCompletedNCT00975689Phase 1, Phase 2
11Miglustat in Niemann-Pick Type C DiseaseCompletedNCT00517153Phase 2
12Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1RecruitingNCT02124083Phase 1, Phase 2
13A Long-Term Study of Recombinant Human Acid Sphingomyelinase in Patients With Acid Sphingomyelinase DeficiencyRecruitingNCT02004704Phase 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
15Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood CellsRecruitingNCT00730314Phase 1, Phase 2
16Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase DeficiencyRecruitingNCT02193867Phase 2
17MT2013-31: Allo HCT for Metabolic Disorders and Severe OsteopetrosisRecruitingNCT02171104Phase 2
18Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic DisordersActive, not recruitingNCT01372228Phase 1, Phase 2
19Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of MetabolismTerminatedNCT00668564Phase 2
20Tolerability and Safety Study of Recombinant Human Acid Sphingomyelinase in Acid Sphingomyelinase Deficiency PatientsCompletedNCT01722526Phase 1
21Saccadic Eye Movements in Patients With Niemann-Pick Type C DiseaseCompletedNCT00316498Phase 1
22Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 DiseaseRecruitingNCT01747135Phase 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
26Safety Study of rhASM Enzyme Replacement Therapy in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease)TerminatedNCT00410566Phase 1
27Longitudinal Study of Cognition With Niemann-Pick Disease, Type CCompletedNCT01899950
28PET Scan of Brain Metabolism in Relation to Age and DiseaseCompletedNCT00001972
29Plant Stanols and Gene Expression ProfileCompletedNCT01574417
30A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type CRecruitingNCT02435030
31Biomarker for Niemann Pick Type C DiseaseRecruitingNCT01306604
32Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type CRecruitingNCT00344331
33Investigating Lysosomal Storage Diseases in Minority GroupsRecruitingNCT02120235
34Molecular and Cellular Mechanisms of Lysosomal Storage DiseasesRecruitingNCT02000310
35A Study to Identify and Characterize LAL-D Patients in High-risk PopulationsRecruitingNCT02345421
36Study of Changes in Total Cholesterol Levels as a Function of Consuming a Supplement Designed to Improve Cardiovascular HealthRecruitingNCT01890889
37Study 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

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

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Genetic tests related to Niemann-Pick Disease:

id Genetic test Affiliating Genes
1 Niemann-Pick Disease Type C22
2 Niemann-Pick Disease Type a22 SMPD1
3 Niemann-Pick Disease Type B22 SMPD1
4 Sphingomyelin/cholesterol Lipidosis24

Anatomical Context for Niemann-Pick Disease

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MalaCards organs/tissues related to Niemann-Pick Disease:

33
Bone, Liver, Bone marrow, Brain, Lung, Spleen, Skin

Animal Models for Niemann-Pick Disease or affiliated genes

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MGI Mouse Phenotypes related to Niemann-Pick Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.7GBA, NPC1, NPC2, PSAP, SMPD1
2MP:00053858.1APOD, GBA, LCAT, NPC1, NPC2, PSAP
3MP:00053708.0GBA, LCAT, NPC1, NPC1L1, NPC2, PSAP
4MP:00053877.6CHIT1, GBA, NPC1, NPC2, PSAP, SMPD1
5MP:00036317.5APOD, GBA, NPC1, NPC2, PSAP, SMPD1
6MP:00053787.1GBA, M6PR, NPC1, NPC1L1, NPC2, PSAP
7MP:00107687.0APOD, GBA, M6PR, NPC1, NPC2, PSAP
8MP:00053866.7APOD, GBA, M6PR, NPC1, NPC2, PSAP
9MP:00053765.6APOD, GBA, LCAT, M6PR, NPC1, NPC1L1

Publications for Niemann-Pick Disease

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Articles related to Niemann-Pick Disease:

(show top 50)    (show all 550)
idTitleAuthorsYear
1
Adult Niemann-Pick disease type B with myositis ossificans: a case report. (26338042)
2015
2
Altered Clathrin-Independent Endocytosis in Type A Niemann-Pick Disease Cells and Rescue by ICAM-1-Targeted Enzyme Delivery. (25849869)
2015
3
Hearing loss is an early consequence of Npc1 gene deletion in the mouse model of Niemann-Pick disease, type C. (24839095)
2014
4
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
5
The useful preliminary diagnosis of Niemann-Pick disease type C by filipin test in blood smear. (24001525)
2013
6
Altered transition metal homeostasis in Niemann-Pick disease, type C1. (24343124)
2013
7
Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B. (22718274)
2013
8
Effects of miglustat on stabilization of neurological disorder in niemann-pick disease type C: Iranian pediatric case series. (23143717)
2013
9
Teaching video neuroimages: gelastic cataplexy as the first neurologic manifestation of Niemann-Pick disease type C. (23183285)
2012
10
Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C. (22326530)
2012
11
Plasma cell myeloma with intracytoplasmic crystalloid inclusions, mimicking a Niemann-Pick disease. (22591329)
2012
12
Niemann-Pick disease type A presenting as unilateral tremors. (23255701)
2012
13
Defining natural history: assessment of the ability of college students to aid in characterizing clinical progression of Niemann-Pick disease, type C. (21984891)
2011
14
Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series. (20056559)
2010
15
Response: Sample size and statistical comparisons of GVHD rates in pediatric Niemann-Pick disease patients. (20075176)
2010
16
A case of a Korean adult affected by type B Niemann-Pick disease: secondary sea-blue histiocytosis and molecular characterization]. (19411774)
2009
17
A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease. (19050888)
2009
18
Treatment of a child diagnosed with Niemann-Pick disease type C with miglustat: a case report in Brazil. (18937049)
2008
19
Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child. (17876723)
2007
20
Treatment of hyperlipidemia associated with Niemann-Pick disease type B by fenofibrate. (16211396)
2006
21
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. (17011332)
2006
22
Bipolar disorder and Niemann-Pick disease type C. (15863815)
2005
23
Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann-Pick disease. (15702402)
2005
24
Comparative effects of recombinant acid sphingomyelinase administration by different routes in niemann-pick disease mice. (15516789)
2004
25
Sleep disturbances and hypocretin deficiency in Niemann-Pick disease type C. (12841368)
2003
26
Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K. (14681755)
2003
27
Hematopoietic stem cell gene therapy for Niemann-Pick disease and other lysosomal storage diseases. (11001572)
1999
28
The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1. (9634529)
1998
29
GABAergic neuroaxonal dystrophy and other cytopathological alterations in feline Niemann-Pick disease type C. (9255392)
1997
30
Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C. (9245994)
1997
31
Deficient ferritin immunoreactivity in visceral organs from four patients with Niemann-Pick disease type C. (7582867)
1995
32
Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. (7670466)
1995
33
Neurofibrillary tangles in Niemann-Pick disease type C. (7754743)
1995
34
Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease. (7762557)
1995
35
Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease). (7600574)
1995
36
Niemann-Pick disease type C presenting as neonatal hepatitis: report of one case. (7618476)
1995
37
Specific skin lesions in a patient with Niemann-Pick disease. (7857847)
1994
38
Magnetic resonance spectroscopy in Niemann-Pick disease type C: correlation with diagnosis and clinical response to cholestyramine and lovastatin. (8060425)
1994
39
Sphingomyelinase enzyme assay in Niemann-Pick disease. (8262595)
1993
40
Type C Niemann-Pick disease in a boxer dog. (8460536)
1993
41
Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease. (7688422)
1993
42
Type C Niemann-Pick disease: cellular uncoupling of cholesterol homeostasis is linked to the severity of disruption in the intracellular transport of exogenously derived cholesterol. (2065103)
1991
43
Niemann-Pick disease types C and D. (2646522)
1989
44
Niemann-Pick disease in the Chinese. A report of four cases in three Chinese families. (2626275)
1989
45
Clinical improvement with DMSO treatment in a patient with Niemann-Pick disease (type C). (3150242)
1988
46
Biochemical and ultrastructural studies on an Epstein-Barr virus-transformed lymphoid cell line from a Niemann-Pick disease type C patient. (3015220)
1986
47
Niemann-Pick disease type C. Skin biopsies in parents. (3014367)
1986
48
Juvenile dystonic lipidosis (variant of Niemann-Pick disease type C). (6520612)
1984
49
Liver findings in Niemann-Pick disease type C. (6150908)
1984
50
Uptake and metabolism of radioactively labeled sphingomyelin in cultured skin fibroblasts from controls and patients with Niemann-Pick disease and other lysosomal storage diseases. (6626569)
1983

Variations for Niemann-Pick Disease

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Clinvar genetic disease variations for Niemann-Pick Disease:

5 (show all 43)
id Gene Variation Type Significance SNP ID Assembly Location
1SMPD1NM_000543.4(SMPD1): c.739G> A (p.Gly247Ser)single nucleotide variantLikely pathogenic, Pathogenicrs587779408GRCh37Chr 11, 6413034: 6413034
2SMPD1NM_000543.4(SMPD1): c.354delC (p.Ile119Serfs)deletionPathogenicrs727504165GRCh37Chr 11, 6412649: 6412649
3SMPD1NM_000543.4(SMPD1): c.475T> C (p.Cys159Arg)single nucleotide variantPathogenicrs727504166GRCh38Chr 11, 6391540: 6391540
4SMPD1NM_000543.4(SMPD1): c.573delT (p.Ser192Alafs)deletionPathogenicrs727504167GRCh37Chr 11, 6412868: 6412868
5SMPD1NM_000543.4(SMPD1): c.1493G> A (p.Arg498His)single nucleotide variantLikely pathogenicrs120074117GRCh37Chr 11, 6415434: 6415434
6SMPD1NM_000543.4(SMPD1): c.96G> A (p.Trp32Ter)single nucleotide variantLikely pathogenicrs786204506GRCh38Chr 11, 6390694: 6390694
7SMPD1NM_000543.4(SMPD1): c.1111_1112delCT (p.Leu371Phefs)deletionLikely pathogenicrs786204514GRCh38Chr 11, 6393235: 6393236
8SMPD1NM_000543.4(SMPD1): c.1805G> A (p.Arg602His)single nucleotide variantLikely pathogenicrs370129081GRCh37Chr 11, 6415746: 6415746
9SMPD1NM_000543.4(SMPD1): c.1430C> T (p.Pro477Leu)single nucleotide variantLikely pathogenicrs753508874GRCh38Chr 11, 6393985: 6393985
10SMPD1NM_000543.4(SMPD1): c.538_539delTT (p.Leu180Alafs)deletionLikely pathogenicrs786204694GRCh38Chr 11, 6391603: 6391604
11SMPD1NM_000543.4(SMPD1): c.518dupT (p.Ser174Leufs)duplicationLikely pathogenicrs786204733GRCh38Chr 11, 6391583: 6391583
12SMPD1NM_000543.4(SMPD1): c.785_807del23 (p.Leu262Argfs)deletionPathogenicrs794727252GRCh37Chr 11, 6413080: 6413102
13SMPD1NM_000543.4(SMPD1): c.558_559insT (p.Pro187Serfs)insertionPathogenicrs756366019GRCh37Chr 11, 6412853: 6412854
14SMPD1NM_000543.4(SMPD1): c.1829_1831delGCC (p.Arg610del)deletionPathogenicrs794727780GRCh37Chr 11, 6415770: 6415772
15SMPD1NM_000543.4(SMPD1): c.1492C> T (p.Arg498Cys)single nucleotide variantLikely pathogenicrs769904764GRCh37Chr 11, 6415433: 6415433
16SMPD1NM_000543.4(SMPD1): c.416T> C (p.Leu139Pro)single nucleotide variantPathogenicrs797044797GRCh38Chr 11, 6391481: 6391481
17SMPD1NM_000543.4(SMPD1): c.592G> C (p.Ala198Pro)single nucleotide variantPathogenicrs797044798GRCh38Chr 11, 6391657: 6391657
18SMPD1NM_000543.4(SMPD1): c.874C> A (p.Gln292Lys)single nucleotide variantPathogenicrs797044799GRCh38Chr 11, 6391939: 6391939
19SMPD1NM_000543.4(SMPD1): c.1076C> A (p.Ala359Asp)single nucleotide variantPathogenicrs797044800GRCh38Chr 11, 6392141: 6392141
20SMPD1NM_000543.4(SMPD1): c.1734G> C (p.Lys578Asn)single nucleotide variantPathogenicrs747342458GRCh38Chr 11, 6394445: 6394445
21SMPD1NM_000543.4(SMPD1): c.1493G> T (p.Arg498Leu)single nucleotide variantPathogenicrs120074117GRCh37Chr 11, 6415434: 6415434
22SMPD1NM_000543.4(SMPD1): c.1828_1830delCGC (p.Arg610del)deletionPathogenicrs120074118GRCh37Chr 11, 6415769: 6415771
23SMPD1NM_000543.4(SMPD1): c.1735G> A (p.Gly579Ser)single nucleotide variantPathogenicrs120074119GRCh37Chr 11, 6415676: 6415676
24SMPD1NM_000543.4(SMPD1): c.1314C> A (p.Ser438Arg)single nucleotide variantPathogenicrs267607073GRCh37Chr 11, 6414897: 6414897
25SMPD1NM_000543.4(SMPD1): c.788T> A (p.Leu263Ter)single nucleotide variantPathogenicrs120074120GRCh37Chr 11, 6413083: 6413083
26SMPD1SMPD1, 2-BP DEL, LEU178FSdeletionPathogenic
27SMPD1NM_000543.4(SMPD1): c.1152G> A (p.Met384Ile)single nucleotide variantPathogenicrs120074121GRCh37Chr 11, 6414506: 6414506
28SMPD1NM_000543.4(SMPD1): c.730G> A (p.Gly244Arg)single nucleotide variantPathogenicrs120074122GRCh37Chr 11, 6413025: 6413025
29SMPD1NM_000543.4(SMPD1): c.1154A> G (p.Asn385Ser)single nucleotide variantPathogenicrs120074123GRCh37Chr 11, 6414508: 6414508
30SMPD1NM_000543.4(SMPD1): c.911T> C (p.Leu304Pro)single nucleotide variantPathogenicrs120074124GRCh37Chr 11, 6413206: 6413206
31SMPD1NM_000543.4(SMPD1): c.996delC (p.Phe333Serfs)deletionPathogenicrs387906289GRCh37Chr 11, 6413291: 6413291
32SMPD1NM_000543.4(SMPD1): c.1267C> T (p.His423Tyr)single nucleotide variantPathogenicrs120074126GRCh37Chr 11, 6414850: 6414850
33SMPD1NM_000543.4(SMPD1): c.1327C> T (p.Arg443Ter)single nucleotide variantPathogenicrs120074127GRCh37Chr 11, 6414910: 6414910
34SMPD1NM_000543.4(SMPD1): c.880C> A (p.Gln294Lys)single nucleotide variantPathogenicrs120074128GRCh37Chr 11, 6413175: 6413175
35SMPD1NM_000543.4(SMPD1): c.1451C> A (p.Ala484Glu)single nucleotide variantPathogenicrs267607075GRCh37Chr 11, 6415236: 6415236
36SMPD1NM_000543.4(SMPD1): c.1406A> C (p.Tyr469Ser)single nucleotide variantPathogenicrs267607074GRCh37Chr 11, 6415191: 6415191
37SMPD1NM_000543.4(SMPD1): c.1092-1G> Csingle nucleotide variantPathogenicrs398123474GRCh37Chr 11, 6414445: 6414445
38SMPD1NM_000543.4(SMPD1): c.1299T> G (p.Cys433Trp)single nucleotide variantLikely pathogenicrs398123475GRCh37Chr 11, 6414882: 6414882
39SMPD1NM_000543.4(SMPD1): c.1420_1421delCT (p.Leu474Glufs)deletionPathogenicrs398123476GRCh37Chr 11, 6415205: 6415206
40SMPD1NM_000543.4(SMPD1): c.1426C> T (p.Arg476Trp)single nucleotide variantLikely pathogenic, Pathogenicrs182812968GRCh37Chr 11, 6415211: 6415211
41SMPD1NM_000543.4(SMPD1): c.1624C> T (p.Arg542Ter)single nucleotide variantPathogenicrs398123478GRCh37Chr 11, 6415565: 6415565
42SMPD1NM_000543.4(SMPD1): c.757G> C (p.Asp253His)single nucleotide variantPathogenicrs398123479GRCh37Chr 11, 6413052: 6413052
43SMPD1NM_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:00432029.6GBA, PSAP, SMPD1
2endosomeGO:00057689.1M6PR, NPC1, SMPD1
3lysosomeGO:00057648.9CHIT1, NPC1, NPC2, PSAP, SMPD1
4lysosomal membraneGO:00057658.6GBA, M6PR, NPC1, PSAP
5extracellular spaceGO:00056158.1APOD, CHIT1, LCAT, PSAP, SMPD1
6extracellular exosomeGO:00700627.6APOD, GBA, LCAT, NPC1, NPC2, PSAP

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1cholesterol effluxGO:003334410.4NPC1, NPC2
2termination of signal transductionGO:002302110.2GBA, SMPD1
3lipoprotein metabolic processGO:004215710.2LCAT, NPC1L1
4positive regulation of protein dephosphorylationGO:003530710.1GBA, SMPD1
5ceramide biosynthetic processGO:004651310.1GBA, SMPD1
6negative regulation of MAP kinase activityGO:00434079.7GBA, SMPD1
7cholesterol metabolic processGO:00082039.6LCAT, NPC1, NPC2
8glycosphingolipid metabolic processGO:00066879.6GBA, PSAP, SMPD1
9sphingolipid metabolic processGO:00066659.6GBA, PSAP, SMPD1
10cholesterol homeostasisGO:00426329.5LCAT, NPC1, NPC1L1, NPC2
11cholesterol transportGO:00303019.5LCAT, NPC1, NPC1L1, NPC2
12lipid metabolic processGO:00066299.4APOD, LCAT, PSAP
13response to drugGO:00424939.1APOD, NPC1, NPC1L1, SMPD1
14small molecule metabolic processGO:00442818.0GBA, LCAT, NPC1L1, PSAP, SMPD1

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

idNameGO IDScoreTop Affiliating Genes
1hedgehog receptor activityGO:00081589.8NPC1, NPC1L1
2cholesterol bindingGO:00154859.1APOD, NPC1, NPC2

Sources for Niemann-Pick Disease

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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