NPD
MCID: NMN002
MIFTS: 65

Niemann-Pick Disease (NPD) 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 35 11 25 49 13
Niemann-Pick Disease Type B 11 48 24
Niemann-Pick Disease Type C 11 23 24
Niemann-Pick Disease Type a 11 48 24
Sphingomyelin Lipidosis 11 48 25
Sphingomyelin/cholesterol Lipidosis 25 27
Juvenile Niemann-Pick Disease 23 24
Niemann-Pick Disease, Type C 39 68
Sphingomyelinase Deficiency 48 25
Niemann-Pick Diseases 39 68
Lipoid Histiocytosis 11 68
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 68
Niemann-Pick Disease, Type B 68
Niemann Pick Disease Type B 48
Type a Niemann-Pick Disease 11
Lipid Histiocytosis 25
Neuronal Lipidosis 25
Npd Type a 24
Npd Type B 24
Npd 25

Classifications:



External Ids:

Disease Ontology11 DOID:14504
SNOMED-CT62 58459009, 66751000

Summaries for Niemann-Pick Disease

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NINDS:49 Niemann-Pick disease (NP) refers to a group of inherited metabolic disorders known as lipid storage diseases.  Lipids (fatty materials such as waxes, fatty acids, oils, and cholesterol) and proteins are usually broken down into smaller components to provide energy for the body.  In Niemann-Pick disease, harmful quantities of lipids accumulate in the brain, spleen, liver, lungs, and bone marrow. Neurological symptoms may include ataxia (lack of muscle control during voluntary movements such as walking), loss of muscle tone, brain degeneration,  increased sensitivity to touch, spasticity (stiff muscles and awkward movement), and slurred speech. Other symptoms may include feeding and swallowing difficulties, eye paralysis, learning problems, and an enlarged liver and spleen. There may be clouding of the cornea and a characteristic cherry-red halo develops around the center of the retina. The disease has three categories. Type A, the most severe form, occurs in early infancy and is seen primarily in Jewish families. It is characterized by progressive weakness, an enlarged liver and spleen, swollen lymph nodes, and profound brain damage by six months of age. Children with this type rarely live beyond 18 months.   usually occurs in the pre-teen years, with symptoms that include ataxia and peripheral neuropathy. The brain is generally not affected. Other symptoms include enlarged liver and spleen, and pulmonary difficulties.  In types  and , insufficient activity of an enzyme called  causes the build up of toxic amounts of , a fatty substance present in every cell of the body.  may appear early in life or develop in the teen or adult years. It is caused by a lack of the NPC1 or NPC2 proteins.  Affected individuals may have extensive brain damage that can cause an inability to look up and down, difficulty in walking and swallowing, and progressive loss of vision and hearing.  There may be moderate enlargement of the spleen and liver.  Individuals wit Type C who share a common ancestral background in Nova Scotia were previously referred to as Type D. 

MalaCards based summary: Niemann-Pick Disease, also known as niemann-pick disease type b, is related to niemann-pick disease, type c1 and niemann-pick disease, type b, and has symptoms including constipation, vomiting and muscle weakness. An important gene associated with Niemann-Pick Disease is NPC1 (NPC Intracellular Cholesterol Transporter 1), and among its related pathways are Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF) and Irinotecan Pathway. Affiliated tissues include bone, liver and bone marrow, and related mouse phenotypes are endocrine/exocrine gland and hematopoietic system.

NIH Rare Diseases:48 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

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.

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 102)
idRelated DiseaseScoreTop Affiliating Genes
1niemann-pick disease, type c112.8
2niemann-pick disease, type b12.8
3niemann-pick disease, type a12.8
4niemann-pick disease, type c212.7
5niemann-pick disease type c, juvenile neurologic onset12.2
6niemann-pick disease type c, severe perinatal form12.1
7niemann-pick disease type c, late infantile neurologic onset12.1
8niemann-pick disease type c, severe early infantile neurologic onset12.1
9niemann-pick disease type c, adult neurologic onset12.1
10acid sphingomyelinase deficiency11.7
11niemann–pick disease11.3
12pick disease11.3
13sea-blue histiocyte disease11.1
14narcissistic personality disorder10.9
15neuronitis10.5
16hepatitis10.3
17histiocytosis10.3
18pouchitis10.2NPC1, NPC2
195-fluorouracil poisoning10.2NPC1, NPC2
20neuroendocrine cell hyperplasia of infancy10.2NPC1, NPC2
21pulmonary interstitial glycogenosis10.2NPC1, NPC2
22atypical coarctation of aorta10.2NPC1, NPC2
23lysosomal storage disease10.2
24autosomal dominant tubulointerstitial kidney disease, ren-related10.2NPC1, SMPD1
25tinea favosa10.1NPC1, NPC2, SMPD1
26liver disease10.1
27cerebritis10.1
28splenomegaly10.1
29lumbar spinal canal and spinal cord meningioma10.1NPC1, NPC2, SMPD1
30chromosome breakage syndromes10.1CHIT1, GBA
31leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism10.1PSAP, SMPD1
32hepatocellular carcinoma10.0
33crohn's disease10.0
34glycogen storage disease10.0
35leukemia10.0
36osteomyelitis10.0
37pulmonary alveolar proteinosis10.0
38epilepsy10.0
39juvenile xanthogranuloma10.0
40dysphagia10.0
41myoclonus10.0
42tremor10.0
43gaucher disease, type iii10.0GBA, PSAP
44gaucher disease, type iiic10.0GBA, PSAP
45hypertelorism, preauricular sinus, punctal pits, and deafness10.0CHIT1, MBP, PSAP
46clear cell adenoma10.0GBA, MBP
47hepatitis e9.9GBA, SMPD1
48hypothalamic disease9.9CHIT1, GBA, PSAP
49schizophrenia9.9
50breast cancer9.9

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



Diseases related to niemann-pick disease

Symptoms & Phenotypes for Niemann-Pick Disease

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Human phenotypes related to Niemann-Pick Disease:

 64 (show all 19)
id Description HPO Frequency HPO Source Accession
1 jaundice64 HP:0000952
2 seizures64 HP:0001250
3 ataxia64 HP:0001251
4 dysarthria64 HP:0001260
5 global developmental delay64 HP:0001263
6 gait disturbance64 HP:0001288
7 dystonia64 HP:0001332
8 tremor64 HP:0001337
9 ascites64 HP:0001541
10 dysphonia64 HP:0001618
11 splenomegaly64 HP:0001744
12 dysphagia64 HP:0002015
13 chorea64 HP:0002072
14 hepatomegaly64 HP:0002240
15 sleep disturbance64 HP:0002360
16 developmental regression64 HP:0002376
17 abnormal pyramidal signs64 HP:0007256
18 aplasia/hypoplasia of the abdominal wall musculature64 HP:0010318
19 cognitive impairment64 HP:0100543

UMLS symptoms related to Niemann-Pick Disease:


constipation, vomiting, muscle weakness, dyspnea

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.7CES1, GBA, NPC1, NPC1L1, NPC2, PSAP
2MP:00053978.4GBA, MBP, NPC1, NPC2, PSAP, SMPD1
3MP:00053888.1GBA, NPC1, NPC2, PSAP, SMPD1, TLR4
4MP:00053707.7CES1, GBA, NPC1, NPC1L1, NPC2, PSAP
5MP:00053787.6GBA, MBP, NPC1, NPC1L1, NPC2, PSAP
6MP:00053877.6CHIT1, GBA, MBP, NPC1, NPC2, PSAP
7MP:00107687.5APOD, GBA, MBP, NPC1, NPC2, PSAP
8MP:00036317.4APOD, GBA, MBP, NPC1, NPC2, PSAP
9MP:00053866.8APOD, CES1, GBA, MBP, NPC1, NPC2
10MP:00053766.4APOD, CES1, GBA, MBP, NPC1, NPC1L1

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 58)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EzetimibeapprovedPhase 3, Phase 1279163222-33-1150311
Synonyms:
(-)-Sch 58235
(1-(4-fluorophenyl)-(3R)-(3-(4-fluorophenyl)-(3S)-hydroxypropyl)-(4S)-(4-hydroxyphenyl)-2-azetidinone)
(3R,4S)-1-(4-fluorophenyl)-3-[(3S)-3-(4-fluorophenyl)-3-hydroxypropyl]-4-(4-hydroxyphenyl)azetidin-2-one
(3R,4S)-1-(p-Fluorophenyl)-3-((3S)-3-(p-fluorophenyl)-3-hydroxypropyl)-4-(p-hydroxyphenyl)-2-azetidinone
1-(4-fluorophenyl)-3(R)-[3-(4-fluorophenyl)-3(S)-(4-hydroxyphenyl)-2-azetidione
1-(4-fluorophenyl)-3(R)-[3-(4-fluorophenyl)-3(S)-hydroxypropyl]-4(S)-(4-hydroxyphenyl)-2-azetidinone
163222-33-1
AC-1057
AC1L442L
C108606
CHEBI:49040
CHEMBL1138
CID150311
CPD000466334
D01966
DB00973
Essex brand of ezetimibe
Ezedoc
Ezetimiba
Ezetimibe
Ezetimibe (JAN/USAN/INN)
Ezetimibe [USAN:INN]
Ezetimibum
 
Ezetrol
HMS2051K16
LS-181801
MK-0653
MLS000759443
MLS001424125
MSD brand of ezetimibe
Merck brand of ezetimibe
MolPort-005-938-627
S1655_Selleck
SAM001246623
SCH-58235
SCH58235
SMR000466334
STK640490
STOCK6S-73750
Sch 58235
Schering-Plough brand of ezetimibe
UNII-EOR26LQQ24
ZINC03810860
Zetia
Zetia (TN)
Zetia , Ezetrol, Ezetimibe
Zient
ezetimib
2
Prednisoloneapproved, vet_approvedPhase 2, Phase 3119350-24-85755
Synonyms:
(11beta)-11,17,21-Trihydroxypregna-1,4-diene-3,20-dione
.DELTA.1-Cortisol
.DELTA.1-Dehydrocortisol
.DELTA.1-Dehydrohydrocortisone
.DELTA.1-Hydrocortisone
.delta.-Cortef
.delta.-Stab
1,2-Dehydrohydrocortisone
1,4-Pregnadiene-11beta,17alpha,21-triol-3,20-dione
1,4-Pregnadiene-3,20-dione-11beta,17alpha,21-triol
1-Dehydrocortisol
1-Dehydrohydrocortisone
3,20-dioxo-11beta,17alpha,21-Trihydroxy-1,4-pregnadiene
46656_FLUKA
46656_RIEDEL
50-24-8
58201-11-9
8056-11-9
AC-1773
AC1L1L2E
Ak-Pred
Ak-Tate
Alphadrol
Articulose-50
BPBio1_000164
BRD-K98039984-001-03-0
BRN 1354103
BSPBio_000148
Bio-0666
Bubbli-Pred
C07369
CCRIS 980
CHEBI:8378
CHEMBL131
CID5755
CO-Hydeltra
CPD000718761
Co-Hydeltra
Codelcortone
Cordrol
Cortalone
Cotogesic
Cotolone
D00472
D011239
DB00860
Decaprednil
Decortin H
Delcortol
Delta F
Delta(1)-dehydrohydrocortisone
Delta-Cortef
Delta-Cortef (TN)
Delta-Ef-Cortelan
Delta-Stab
Delta-stab
Deltacortenol
Deltacortril
Deltacortril Enteric
Deltahydrocortisone
Deltasolone
Deltisilone
Depo-Medrol
Derpo PD
Derpo Pd
Dexa-Cortidelt Hostacortin H
Dexa-Cortidelt hostacortin H
Di Adreson F
Di-Adreson F
Di-Adreson-F
Di-adreson F
DiAdresonF
Dicortol
Donisolone
Dydeltrone
EINECS 200-021-7
Eazolin D
Econopred
Econopred Plus
Erbacort
Erbasona
Estilsona
Fernisolone
Fernisolone P
Fernisolone-P
Flamasone
HMS1568H10
HMS2090J05
HSDB 3385
Hostacortin H
Hydeltra
Hydeltra-Tba
Hydeltrasol
Hydeltrone
Hydrodeltalone
Hydrodeltisone
Hydroretrocortin
Hydroretrocortine
I-Pred
Inflamase Forte
Inflamase Mild
K 1557
Key-Pred
Klismacort
LMST02030179
LS-7669
Lentosone
Lite Pred
M-Predrol
 
MLS001304083
MLS002154250
MLS002207037
Medrol
Medrol Acetate
Metacortandralone
Methylprednisolone Acetate
Meti-Derm
Meticortelone
Metreton
MolPort-002-507-147
NCGC00179649-01
NSC 9120
NSC9120
NSC9900
Neo-Delta-Cortef
Nisolone
Nor-Pred T.B.A.
Ocu-Pred
Ocu-Pred Forte
Ophtho-Tate
Orapred
P0152_SIGMA
P0637
P6004_SIGMA
PRDL
PRED-G
Panafcortelone
Paracortol
Paracotol
Pediapred
Poly-Pred
Precortalon
Precortancyl
Precortilon
Precortisyl
Pred Forte
Pred Mild
Predair
Predair A
Predair Forte
Predalone 50
Predalone T.B.A.
Predate
Predate Tba
Predate-50
Predcor-25
Predcor-50
Predcor-Tba
Predisolone Sodium Phosphate
Predne-Dome
Prednelan
Predni-Dome
Prednicen
Predniliderm
Predniretard
Prednis
Prednisolona
Prednisolona [INN-Spanish]
Prednisolone (JP15/USP/INN)
Prednisolone (anhydrous)
Prednisolone Acetate
Prednisolone Sodium Phosphate
Prednisolone Tebutate
Prednisolone [INN:BAN:JAN]
Prednisolonum
Prednisolonum [INN-Latin]
Predonin
Predonine
Prelone
Prenolone
Prestwick0_000274
Prestwick1_000274
Prestwick2_000274
Prestwick3_000274
Prestwick_404
Rolisone
S1737_Selleck
SAM002264639
SMR000718761
SPBio_002367
Scherisolon
Solone
Steran
Sterane
Sterolone
Supercortisol
UNII-9PHQ9Y1OLM
Ulacort
Ultra Pred
Ultracorten H
Ultracortene H
Ultracortene-H
Ultracortene-Hydrogen
Ultracortene-hydrogen
ZINC03833821
component of Ataraxoid
component of K-Predne-Dome
delta(1)-Cortisol
delta(1)-Dehydrocortisol
delta(1)-Dehydrohydrocortisone
delta(1)-Hydrocortisone
delta(sup 1)-Cortisol
delta(sup 1)-Dehydrocortisol
delta(sup 1)-Dehydrohydrocortisone
delta(sup 1)-Hydrocortisone
delta-dehydrocortisol
delta-dehydrohydrocortisone
delta-hydrocortisone
prednisolone
3
Busulfanapproved, investigationalPhase 2, Phase 354555-98-12478
Synonyms:
1, 4-Dimethanesulfonoxybutane
1, 4-Dimethylsulfonoxybutane
1, {4-Bis[methanesulfonoxy]butane}
1,4-BUTANEDIOL DIMETHANESULFONATE
1,4-Bis(methanesulfonoxy)butane
1,4-Bis(methanesulfonyloxy)butane
1,4-Bis[methanesulfonoxy]butane
1,4-Butanedi yl dimethanesulfonate
1,4-Butanediol dimethanesulfonate
1,4-Butanediol dimethanesulphonate
1,4-Butanediol dimethylsulfonate
1,4-Butanediol, dimethanesulfonate
1,4-Butanediol, dimethanesulphonate
1,4-Butanediyl dimethanesulfonate
1,4-Di(methylsulfonoxy)butane
1,4-Dimesyloxybutane
1,4-Dimethane sulfonyl oxybutane
1,4-Dimethanesulfonoxybutane
1,4-Dimethanesulfonoxylbutane
1,4-Dimethanesulfonyloxybutane
1,4-Dimethanesulphonyloxybutane
1,4-Dimethylsulfonoxybutane
1,4-Dimethylsulfonyloxybutane
2041 C. B
2041 C. B.
2041 C.B
2041 C.B.
4-((Methylsulfonyl)oxy)butyl methanesulfonate
4-methylsulfonyloxybutyl methanesulfonate
55-98-1
AC-198
AC1L1DRQ
AC1Q4GRQ
AI3-25012
AKOS003614975
AN 33501
Ambap55-98-1
B1022
B2635_FLUKA
B2635_SIGMA
BRN 1791786
BSPBio_001920
BUSULFAN (1,4-BUTANEDIOL, DIMETHANESULFONATE)
Bisulfex
Busilvex
Busulfan
Busulfan (JP15/USP/INN)
Busulfan GlaxoSmithKline Brand
Busulfan Orphan Brand
Busulfan Wellcome
Busulfan Wellcome Brand
Busulfan [INN:JAN]
Busulfano
Busulfano [INN-Spanish]
Busulfanum
Busulfanum [INN-Latin]
Busulfex
Busulphan
Busulphane
Butanedioldimethanesulfonate
Buzulfan
C.B. 2041
C6H14O6S2
CB 2041
CCRIS 418
CHEBI:28901
CHEMBL820
CID2478
CPD000058613
Citosulfan
D002066
D00248
DB01008
DivK1c_000847
EINECS 200-250-2
FT-0083567
G.T. 41
GT 2041
GT 41
Glaxo Wellcome Brand of Busulfan
GlaxoSmithKline Brand of Busulfan
Glyzophrol
HMS1920I07
HMS2091O09
HMS502K09
 
HSDB 7605
I09-1371
IDI1_000847
InChI=1/C6H14O6S2/c1-13(7,8)11-5-3-4-6-12-14(2,9)10/h3-6H2,1-2H3
KBio1_000847
KBio2_000512
KBio2_003080
KBio2_005648
KBio3_001420
KBioGR_000698
KBioSS_000512
LS-1358
Leucosulfan
MLS001076666
MYLERAN (TN)
Mablin
Methanesulfonic
Methanesulfonic acid, tetram ethylene ester
Methanesulfonic acid, tetramethylene ester
Mielevcin
Mielosan
Mielucin
Milecitan
Mileran
Misulban
Mitosan
Mitostan
MolPort-001-783-406
Myeleukon
Myeloleukon
Myelosan
Myelosanum
Mylecytan
Myleran
Myleran Tablets
Myleran tablets
Myleran, Busulfex, Busulfan
Mylerlan
NCGC00090905-01
NCGC00090905-02
NCGC00090905-03
NCGC00090905-04
NCGC00090905-05
NCGC00090905-06
NCGC00090905-07
NCI-C01592
NCI60_041640
NCIMech_000192
NINDS_000847
NSC 750
NSC-750
NSC-750sulphabutin
NSC750
Orphan Brand of Busulfan
Prestwick_989
S1692_Selleck
SAM002554887
SMR000058613
SPBio_000253
SPECTRUM1500152
ST50825921
Spectrum2_000067
Spectrum3_000320
Spectrum4_000259
Spectrum5_000928
Spectrum_000092
Sulfabutin
Sulfabutin (VAN)
Sulphabutin
Tetramethylene Dimethane Sulfonate
Tetramethylene bis(methanesulfonate)
Tetramethylene bis[methanesulfonate]
Tetramethylene dimethane sulfonate
Tetramethylene {bis[methanesulfonate]}
Tetramethylenester Kyseliny Methansulfonove
Tetramethylenester kyseliny methansulfonove
Tetramethylenester kyseliny methansulfonove [Czech]
UNII-G1LN9045DK
WLN: WS1&O4OSW1
Wellcome Brand of Busulfan
Wellcome, Busulfan
X 149
acid, tetramethylene ester
alkylating agent: crosslinks guanine residues
busulfan
butane-1,4-diyl dimethanesulfonate
n-Butane-1,3-di(methylsulfonate)
4
Cyclophosphamideapproved, investigationalPhase 2, Phase 3293550-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Anhydrous cyclophosphamide
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
 
DB00531
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
5
Methylprednisoloneapproved, vet_approvedPhase 2, Phase 3119383-43-26741
Synonyms:
(6S,8S,9S,10R,11S,13S,14S,17R)-11,17-dihydroxy-17-(2-hydroxyacetyl)-6,10,13-trimethyl-7,8,9,11,12,14,15,16-octahydro-6H-cyclopenta[a]phenanthren-3-one
(6a,11b)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6alpha,11beta)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6α,11β)-11,17,21-trihydroxy-6-methylpregna-1,4-diene-3,20-dione
.DELTA.1-6.alpha.-Methylhydrocortisone
1-Dehydro-6alpha-methylhydrocortisone
1-dehydro-6alpha-Methylhydrocortisone
1-dehydro-6α-methylhydrocortisone
11-beta,17,21-Trihydroxy-6-alpha-methylpregna-1,4-diene-3,20-dione
11beta,17,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methyl-1,4-pregnadiene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
121673-01-6
4-08-00-03498 (Beilstein Handbook Reference)
46436_FLUKA
46436_RIEDEL
570-35-4
6 Methylprednisolone
6-Methylprednisolone
6-alpha-Methylprednisolone
6.alpha.-Methylprednisolone
6923-42-8
6alpha-Methyl-11beta,17alpha,21-trihydroxy-1,4-pregnadiene-3,20-dione
6alpha-Methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
6alpha-Methylprednisolone
6alpha-methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
83-43-2
AC1L1N7A
Artisone-Wyeth
Artisone-wyeth
BPBio1_000174
BRD-K35240538-001-03-1
BRN 2340300
BSPBio_000158
Besonia
Bio-0658
CHEBI:6888
CHEMBL650
CID6741
CPD000058330
D00407
D008775
DB00959
Depo-Medrol (acetate)
Dopomedrol
EINECS 201-476-4
Esametone
Firmacort
HMS1568H20
HMS2090B13
HSDB 3127
LMST02030178
LS-118498
Lemod
M0639_SIGMA
M1665
MEPRDL
MLS000028541
MLS001148159
MLS002207191
Medesone
Medixon
Medlone 21
 
Medrate
Medrol
Medrol (TN)
Medrol Adt Pak
Medrol Dosepak
Medrol adt pak
Medrol dosepak
Medrol, Solu-Medrol, Medrone, Methylprednisolone
Medrone
Mesopren
Metastab
Methyleneprednisolone
Methylprednisolon
Methylprednisolone
Methylprednisolone (JP15/USP/INN)
Methylprednisolone [USAN:INN:BAN:JAN]
Methylprednisolone, 6-alpha
Methylprednisolonum
Methylprednisolonum [INN-Latin]
Metilbetasone
Metilprednisolona
Metilprednisolona [INN-Spanish]
Metilprednisolone
Metilprednisolone [DCIT]
Metilprednisolone [Dcit]
Metipred
Metrisone
Metrocort
Metysolon
Moderin
MolPort-002-528-554
NCGC00022735-03
NCI60_001657
NSC-19987
NSC19987
Nirypan
Noretona
Predni N Tablinen
Prednol- L
Pregna-1,4-diene-3,20-dione, 11beta,17,21-trihydroxy-6alpha-methyl- (8CI)
Prestwick0_000279
Prestwick1_000279
Prestwick2_000279
Prestwick3_000279
Prestwick_622
Promacortine
Reactenol
S1733_Selleck
SAM002589984
SMR000058330
SPBio_002377
Sieropresol
Solomet
Summicort
Suprametil
U 7532
UNII-X4W7ZR7023
Urbason
Urbasone
Wyacort
ZINC03875560
delta(1)-6alpha-Methylhydrocortisone
delta(sup 1)-6-alpha-Methylhydrocortisone
methylprednisolone
methylprenisolone
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
8Hypolipidemic AgentsPhase 3, Phase 12785
9Lipid Regulating AgentsPhase 3, Phase 12766
10Anticholesteremic AgentsPhase 3, Phase 12025
11AntimetabolitesPhase 3, Phase 2, Phase 112054
12Methylprednisolone HemisuccinatePhase 2, Phase 31193
13insulinPhase 34646
14Prednisolone acetatePhase 2, Phase 31193
15Methylprednisolone acetatePhase 2, Phase 31193
16Prednisolone phosphatePhase 2, Phase 31193
17Prednisolone hemisuccinatePhase 2, Phase 31193
18Insulin, Globin ZincPhase 34645
19Antiviral AgentsPhase 3, Phase 1, Phase 29967
20Cardiac GlycosidesPhase 3, Phase 2, Phase 1148
21Anti-Retroviral AgentsPhase 3, Phase 2, Phase 13296
22Anti-Infective AgentsPhase 3, Phase 1, Phase 222062
23Immunosuppressive AgentsPhase 2, Phase 313086
24Glycoside Hydrolase InhibitorsPhase 3, Phase 2, Phase 1128
25Anti-HIV AgentsPhase 3, Phase 2, Phase 13162
26Antirheumatic AgentsPhase 2, Phase 310956
27Antineoplastic Agents, AlkylatingPhase 2, Phase 34603
28Antilymphocyte SerumPhase 2, Phase 3408
29Hypoglycemic AgentsPhase 3, Phase 2, Phase 15896
30Alkylating AgentsPhase 2, Phase 34827
31Pharmaceutical SolutionsPhase 2, Phase 3, Phase 18192
32Liver ExtractsPhase 2, Phase 34067
33
Acetylcysteineapproved, investigationalPhase 1, Phase 2330616-91-112035
Synonyms:
(2R)-2-acetylamino-3-sulfanylpropanoic acid
(R)-2-acetylamino-3-mercaptopropanoic acid
(R)-mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
Fluprowit
 
L-Acetylcysteine
L-acetylcysteine
L-α-acetamido-β-mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetyl-L-(+)-cysteine
N-acetyl-L-cysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
34
Vorinostatapproved, investigationalPhase 1, Phase 2247149647-78-95311
Synonyms:
149647-78-9
1zz1
AC-1923
AC1L1K2K
BRD-K81418486-001-10-3
C111237
CCRIS 8456
CHEBI:45716
CHEMBL98
CID5311
D06320
DB02546
EC-000.2057
FT-0082592
LS-186548
LS-186997
LS-187780
MK-0683
MK0683
MLS001065855
Merck brand of Vorinostat
MolPort-003-850-293
N'-hydroxy-N-phenyloctanediamide
N-Hydroxy-N'-phenyl octanediamide
N-Hydroxy-N'-phenyloctanediamide
N-Hyrdroxy-N'-phenyloctanediamide
N-hydroxy-N'-phenyl-octane-1,8-diotic acid diamide
N-hydroxy-N'-phenyloctanediamide
N1-hydroxy-N8-phenyloctanediamide
NCGC00168085-02
 
NHNPODA
NSC-701852
NSC701852
OCTANEDIOIC ACID HYDROXYAMIDE PHENYLAMIDE
Octanedioic acid hydroxyamide phenylamide
S1047_Selleck
SAHA
SAHA cpd
SAHA, Suberoylanilide hydroxamic acid
SHH
SKI390
SMR000486344
SW-064652
Suberanilohydroxamic acid
SuberoylaN/Aide hydroxamic acid
Suberoylanilide hydroxamic acid
UNII-58IFB293JI
Vorinostat
Vorinostat (JAN/USAN)
Vorinostat MSD
Vorinostat [USAN]
Vorinostatum
WIN64652
ZINC01543873
Zolinza
Zolinza (TN)
Zolinza, MK-0683, SAHA
m344
nchembio.275-comp2
nchembio.313-comp1
nchembio815-comp18
suberoylanilide hydroxamic acid
35
FludarabineapprovedPhase 2115421679-14-1, 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
36
alemtuzumabapproved, investigationalPhase 2310216503-57-0
Synonyms:
Campath
 
MabCampath
alemtuzumab
37
ThiotepaapprovedPhase 222652-24-45453
Synonyms:
 
Thioplex
38
Celecoxibapproved, investigationalPhase 2444169590-42-52662
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
39
rituximabapprovedPhase 21692174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
40
Vitamin Eapproved, nutraceutical, vet_approvedPhase 241459-02-914985
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
41
BetadexPhase 1, Phase 2207585-39-9320761
Synonyms:
Betadex, INN, USAN
Cyclo-hepta-amylose
Cycloheptaamylose
Cycloheptaglucan
Cycloheptaglucosan
Cycloheptakis-(1->4)-(a-D-glucopyranose)
Cycloheptamaltose
 
Cycloheptapentylose
Cyclomaltoheptaose
E459
b-Schardinger dextran
beta -cycloamylose
beta -cyclodextrin
beta -cycloheptaamylose
beta Cyclodextrin, USAN
beta-Cyclodextrin
42AntidotesPhase 1, Phase 21071
43Respiratory System AgentsPhase 1, Phase 24997
44AntioxidantsPhase 1, Phase 23050
45Histone Deacetylase InhibitorsPhase 1, Phase 2569
46N-monoacetylcystinePhase 1, Phase 2330
47ExpectorantsPhase 1, Phase 2404
48Protective AgentsPhase 1, Phase 27443
49TocopherolsPhase 2414
50TocotrienolsPhase 2410

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
4Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase DeficiencyRecruitingNCT02004691Phase 2, Phase 3
5Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) to Treat Niemann-Pick Type C1 (NPC1) DiseaseRecruitingNCT02534844Phase 2, Phase 3
6Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type CActive, not recruitingNCT02612129Phase 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
14Study of Pharmacokinetics and Preliminary Efficacy in Patients With Niemann-Pick C1RecruitingNCT02912793Phase 1, Phase 2
15Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase DeficiencyRecruitingNCT02292654Phase 1, Phase 2
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
19A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase DeficiencyEnrolling by invitationNCT02004704Phase 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
23Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 DiseaseCompletedNCT01747135Phase 1
24Study of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1)RecruitingNCT02939547Phase 1
25Human Placental-Derived Stem Cell TransplantationRecruitingNCT01586455Phase 1
26UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like CellsRecruitingNCT02254863Phase 1
27Pilot Study of Ezetimibe for Chronic Hepatitis C Virus (HCV) InfectionRecruitingNCT02126137Phase 1
28Safety Study of rhASM Enzyme Replacement Therapy in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease)TerminatedNCT00410566Phase 1
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
32A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type CCompletedNCT02435030
33PET Scan of Brain Metabolism in Relation to Age and DiseaseCompletedNCT00001972
34Plant Stanols and Gene Expression ProfileCompletedNCT01574417
35Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type CRecruitingNCT00344331
36Biomarker for Niemann Pick Type C DiseaseRecruitingNCT01306604
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 Lipidosis27
2 Niemann-Pick Disease Type C24

Anatomical Context for Niemann-Pick Disease

About this section

MalaCards organs/tissues related to Niemann-Pick Disease:

36
Bone, Liver, Bone marrow, Brain, Lung, Spleen, Retina

Publications for Niemann-Pick Disease

About this section

Articles related to Niemann-Pick Disease:

(show top 50)    (show all 614)
idTitleAuthorsYear
1
Severe demyelination in a patient with a late infantile form of Niemann-Pick disease type C. (28387450)
2017
2
Niemann-Pick Disease Type C Initially Misdiagnosed as Gaucher Disease in a 6 Year Old Kazakh Girl. (28480683)
2017
3
Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1. (28414792)
2017
4
The new obesity-associated protein, neuronal growth regulator 1 (NEGR1), is implicated in Niemann-Pick disease Type C (NPC2)-mediated cholesterol trafficking. (27940359)
2017
5
Dataset in support of the generation of Niemann-Pick disease Type C1 patient-specific iPS cell lines carrying the novel NPC1 mutation c.1180T>C or the prevalent c.3182T>C mutation - Analysis of pluripotency and neuronal differentiation. (28413817)
2017
6
Increased Regenerative Capacity of the Olfactory Epithelium in Niemann-Pick Disease Type C1. (28383485)
2017
7
Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study. (28222799)
2017
8
Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult. (28421028)
2017
9
Abnormal dopamine transporter imaging in adult-onset Niemann-Pick disease type C. (28063684)
2017
10
Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C. (28092091)
2017
11
Types A and B Niemann-Pick disease. (28164782)
2017
12
Phenanthridin-6-one derivatives as the first class of non-steroidal pharmacological chaperones for Niemann-Pick disease type C1 protein. (28465104)
2017
13
Association of NPC1 variant p.P237S with a pathogenic splice variant in two Niemann-Pick disease type C1 patients. (28328115)
2017
14
Characterization of cholesterol homeostasis in sphingosine-1-phosphate lyase-deficient fibroblasts reveals a Niemann-Pick disease type C-like phenotype with enhanced lysosomal Ca(2+) storage. (28262793)
2017
15
Pearls & Oy-sters: Niemann-Pick disease type C in a 65-year-old patient. (27550898)
2016
16
Seven novel mutations of the SMPD1 gene in four Chinese patients with Niemann-Pick disease type A and prenatal diagnosis for four fetuses. (26851525)
2016
17
Anesthetic Management in a Child With Niemann-Pick Disease. (28203333)
2016
18
Niemann-Pick Disease Type B in a 21 Year Old Male. (27277377)
2016
19
Visceral symptoms as a key diagnostic sign for the early infantile form of Niemann-Pick disease type C in a Russian patient: a case report. (27250337)
2016
20
An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family. (27549128)
2016
21
Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases. (27198631)
2016
22
A case of variant biochemical phenotype of Niemann-Pick disease type C accompanying savant syndrome. (27181747)
2016
23
Development of a bile acid-based newborn screen for Niemann-Pick disease type C. (27147587)
2016
24
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
25
Pulmonary Involvement in Niemann-Pick Disease: A State-of-the-Art Review. (27164983)
2016
26
Types A and B Niemann-Pick Disease. (27491215)
2016
27
Cathepsin S contributes to microglia-mediated olfactory dysfunction through the regulation of Cx3cl1-Cx3cr1 axis in a Niemann-Pick disease type C1 model. (27687148)
2016
28
Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat. (26984608)
2016
29
Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages. (27993458)
2016
30
Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C. (27193329)
2016
31
Human acid sphingomyelinase structures provide insight to molecular basis of Niemann-Pick disease. (27725636)
2016
32
Pulmonary alveolar proteinosis and Niemann Pick disease type B: An unexpected combination. (27408787)
2016
33
Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C. (27271431)
2016
34
Hepatic Primary and Secondary Cholesterol Deposition and Damage in Niemann-Pick Disease. (26784526)
2016
35
Reduced Myelin Water in the White Matter Tracts of Patients with Niemann-Pick Disease Type C. (26939636)
2016
36
Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann-Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report. (27599728)
2016
37
Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C. (26910362)
2016
38
Sphingomyelin-induced inhibition of the plasma membrane calcium ATPase causes neurodegeneration in type A Niemann-Pick disease. (27620840)
2016
39
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. (27338287)
2016
40
Niemann-Pick disease, type C and Roscoe Brady. (27923544)
2016
41
Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease. (26953272)
2016
42
Necroptosis in Niemann-Pick disease, type C1: a potential therapeutic target. (26986514)
2016
43
Identification of Two Sulfated Cholesterol Metabolites Found in the Urine of a Patient with Niemann-Pick Disease Type C as Novel Candidate Diagnostic Markers. (27900236)
2016
44
Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3I^,5I+,6I^-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations. (26790753)
2016
45
Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review. (27339554)
2016
46
Teaching Video NeuroImages: The "round the houses" sign as a clinical clue for Niemann-Pick disease type C. (27164722)
2016
47
Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea. (27366019)
2016
48
A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C). (27449637)
2016
49
Cholesterol-dependent increases in glucosylceramide synthase activity in Niemann-Pick disease type C model cells: Abnormal trafficking of endogenously formed ceramide metabolites by inhibition of the enzyme. (27539961)
2016
50
Otorhinolaryngological, audiovestibular and swallowing manifestations of patients with Niemann-Pick disease Type C. (26746602)
2016

Variations for Niemann-Pick Disease

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Clinvar genetic disease variations for Niemann-Pick Disease:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NPC1NM_ 000271.4(NPC1): c.3019C> G (p.Pro1007Ala)SNVPathogenicrs80358257GRCh37Chr 18, 21118528: 21118528

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, NPC2, PSAP, SMPD1
2extracellular spaceGO:00056158.9APOD, CHIT1, GBA, NPC2, PSAP, SMPD1
3lysosomeGO:00057648.3CHIT1, GBA, NPC1, NPC2, PSAP, SMPD1

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1cholesterol effluxGO:003334410.7NPC1, NPC2
2low-density lipoprotein particle clearanceGO:003438310.6NPC1, NPC2
3ceramide biosynthetic processGO:004651310.4GBA, SMPD1
4cholesterol metabolic processGO:000820310.3NPC1, NPC1L1, NPC2
5cholesterol transportGO:003030110.3NPC1, NPC1L1, NPC2
6negative regulation of MAP kinase activityGO:004340710.3GBA, SMPD1
7positive regulation of protein dephosphorylationGO:003530710.3GBA, SMPD1
8response to bacteriumGO:000961710.2CHIT1, TLR4
9cholesterol biosynthetic processGO:000669510.1CES1, NPC1L1
10negative regulation of interleukin-6 productionGO:003271510.0GBA, TLR4
11lipid transportGO:00068699.8APOD, NPC1, NPC1L1, PSAP
12response to drugGO:00424939.8APOD, NPC1, NPC1L1, SMPD1
13termination of signal transductionGO:00230219.7GBA, SMPD1
14sphingolipid metabolic processGO:00066659.6GBA, PSAP, UGT8
15steroid metabolic processGO:00082029.6NPC1, NPC1L1, NPC2
16glycosphingolipid metabolic processGO:00066879.5GBA, PSAP, SMPD1, UGT8
17metabolic processGO:00081528.7CES1, CHIT1, GBA, SMPD1, UGT8
18lipid metabolic processGO:00066298.6APOD, GBA, NPC1, NPC1L1, NPC2, PSAP

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

idNameGO IDScoreTop Affiliating Genes
1cholesterol bindingGO:001548510.1APOD, NPC1, NPC2
2lipid transporter activityGO:00053199.8APOD, NPC1
3hydrolase activity, acting on glycosyl bondsGO:00167989.7CHIT1, GBA, SMPD1

Sources for Niemann-Pick Disease

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