Page last updated: 2024-09-27

Classical Niemann-Pick Disease

Synonyms(12)

Synonym
Type A Niemann-Pick Disease
Sphingomyelin Cholesterol Lipidosis
Sphingomyelin Lipidosis
Ophthalmoplegia, Supraoptic Vertical
Niemann-Pick Disease, Acute Neurovisceral Form
Classical Niemann-Pick Disease
Niemann-Pick Disease, Neuronopathic Type
Sphingomyelinase Deficiency
Neuronal Cholesterol Lipidosis
Niemann-Pick Disease, Acute Neuronopathic Form
Niemann-Pick's Disease Type A
Sphingomyelinase Deficiency Disease

Research Excerpts

Research

Studies (40)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's4 (10.00)18.1394
2010's20 (50.00)28.8240
2020's16 (40.00)9.53
DrugIndicatedRelationship StrengthStudiesTrials
carbon monoxide0medium11
choline0low10
phosphorylcholine0medium31
dapi0low10
gentamicin0low10
arginine0low10
d-alpha tocopherol0low10
tocopherols0low20
paraquat0low10
1-deoxynojirimycin0low10
glutamic acid0low10
miglustat0low30
fura-20low10
delta-tocopherol0low20
antibiotic g 4180low10
betadex0low10
sphingosine0medium41
ellagic acid0low10
ceramide 1-phosphate0low10
sphingosine phosphorylcholine0medium41
alpha-synuclein0low10
oligonucleotides0low10
phosphatidylcholines0low10
glycolipids0medium181
interleukin-80medium11
transforming growth factor beta0low10
filipin0low10

Protein Targets (492)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE4004
glucocerebrosidase2002
Alpha-mannosidase0101
alpha-galactosidase3003
Trehalase 0202
lysosomal alpha-glucosidase preproprotein2002
Trehalase0101
Maltase-glucoamylase, intestinal0202
Trehalase 0202
Lysosomal acid glucosylceramidase0404
Alpha-galactosidase A0101
Alpha-glucosidase MAL620101
Lactase-phlorizin hydrolase0202
Lysosomal alpha-glucosidase0404
Beta-glucosidase A0101
Sucrase-isomaltase, intestinal0202
Alpha-1B adrenergic receptor0101
Sucrase-isomaltase, intestinal0202
Alpha-1D adrenergic receptor0101
Beta-glucosidase0101
Protein-lysine 6-oxidase0404
Alpha-mannosidase 20202
Glycogen debranching enzyme0202
Glycogen debranching enzyme0101
Alpha-glucosidase MAL320101
Alpha-1A adrenergic receptor0101
Oligo-1,6-glucosidase IMA10101
Alpha-glucosidase MAL120202
Oxysterols receptor LXR-beta0101
Spike glycoprotein3003
Alpha-amylase 0101
Trehalose synthase/amylase TreS0101
Lactase-phlorizin hydrolase 0202
Oxysterols receptor LXR-alpha0101
Neutral alpha-glucosidase AB0202
Ceramide glucosyltransferase0202
Lysosomal acid glucosylceramidase0101
Probable maltase-glucoamylase 20101
Beta-glucosidase 0101
Lysosomal alpha-glucosidase0202
Cytosolic beta-glucosidase0101
Non-lysosomal glucosylceramidase0202
Putative alpha-glucosidase0202
30S ribosomal protein S60101
30S ribosomal protein S70101
50S ribosomal protein L150101
50S ribosomal protein L100101
50S ribosomal protein L110101
50S ribosomal protein L7/L120101
50S ribosomal protein L190101
50S ribosomal protein L10101
50S ribosomal protein L200101
50S ribosomal protein L270101
50S ribosomal protein L280101
50S ribosomal protein L290101
50S ribosomal protein L310101
50S ribosomal protein L31 type B0101
50S ribosomal protein L320101
50S ribosomal protein L330101
50S ribosomal protein L340101
50S ribosomal protein L350101
50S ribosomal protein L360101
30S ribosomal protein S100101
30S ribosomal protein S110101
30S ribosomal protein S120101
30S ribosomal protein S130101
30S ribosomal protein S160101
30S ribosomal protein S180101
30S ribosomal protein S190101
30S ribosomal protein S200101
30S ribosomal protein S20101
30S ribosomal protein S30101
30S ribosomal protein S40101
30S ribosomal protein S50101
30S ribosomal protein S80101
30S ribosomal protein S90101
50S ribosomal protein L130101
50S ribosomal protein L140101
50S ribosomal protein L160101
50S ribosomal protein L230101
30S ribosomal protein S150101
50S ribosomal protein L170101
50S ribosomal protein L210101
50S ribosomal protein L300101
50S ribosomal protein L60101
30S ribosomal protein S140101
30S ribosomal protein S170101
30S ribosomal protein S10101
50S ribosomal protein L180101
50S ribosomal protein L20101
50S ribosomal protein L30101
50S ribosomal protein L240101
50S ribosomal protein L40101
50S ribosomal protein L220101
50S ribosomal protein L50101
30S ribosomal protein S210101
50S ribosomal protein L250101
50S ribosomal protein L36 20101
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
thioredoxin reductase2002
phosphopantetheinyl transferase6006
NFKB1 protein, partial1001
GLS protein4004
thyroid stimulating hormone receptor2002
euchromatic histone-lysine N-methyltransferase 25005
cytochrome P450 2C19 precursor2002
chromobox protein homolog 12002
flap endonuclease 12002
DNA polymerase iota isoform a (long)3003
muscarinic acetylcholine receptor M12002
lethal factor (plasmid)2002
Cytochrome P450 3A40102
Nitric oxide synthase, endothelial0002
Nitric oxide synthase, brain0001
Nitric oxide synthase, brain 0001
Nitric oxide synthase, inducible0001
Nitric oxide synthase, inducible0013
Cationic amino acid transporter 30101
ATP-dependent phosphofructokinase4004
Chain A, D-MALTODEXTRIN BINDING PROTEIN0011
Chain A, Limit Dextrinase0011
Chain A, Solute-binding protein0011
Chain A, Solute-binding protein0011
Chain B, SusD0011
Chain A, SusD0011
Chain A, SusD0011
Chain A, Alpha-hemolysin0011
Chain B, Alpha-hemolysin0011
Chain C, Alpha-hemolysin0011
Chain D, Alpha-hemolysin0011
Chain E, Alpha-hemolysin0011
Chain F, Alpha-hemolysin0011
Chain G, Alpha-hemolysin0011
AR protein5005
aldehyde dehydrogenase 1 family, member A11001
estrogen receptor 2 (ER beta)1001
glucocorticoid receptor [Homo sapiens]3003
retinoic acid nuclear receptor alpha variant 13003
retinoid X nuclear receptor alpha2002
estrogen-related nuclear receptor alpha4004
farnesoid X nuclear receptor2002
activating transcription factor 63003
potassium voltage-gated channel subfamily H member 2 isoform d2002
Chain A, Acetylcholinesterase0011
Chain A, Acetylcholinesterase0011
Chain A, Acetylcholinesterase0011
Chain A, Acetylcholinesterase0011
Chain A, Acetylcholinesterase0011
Chain A, Acetylcholinesterase0011
Chain A, Acetylcholinesterase0011
Chain A, Putative Glycine Betaine-binding Abc Transporter Protein0011
Chain A, PUTATIVE GLYCINE BETAINE-BINDING ABC TRANSPORTER PROTEIN0011
Chain A, Glycine betaine/carnitine/choline-binding protein0011
Chain A, Glycine betaine/carnitine/choline-binding protein0011
Chain A, Glycine betaine/carnitine/choline-binding protein0011
Chain A, Glycine betaine/carnitine/choline-binding protein0011
Chain A, Choline-binding protein0011
Solute carrier family 22 member 10102
Solute carrier family 22 member 20001
Solute carrier family 22 member 1 0001
Solute carrier family 22 member 20101
Neuronal acetylcholine receptor subunit alpha-30101
Neuronal acetylcholine receptor subunit alpha-40101
Neuronal acetylcholine receptor subunit alpha-20101
Neuronal acetylcholine receptor subunit beta-20101
Neuronal acetylcholine receptor subunit beta-30101
Neuronal acetylcholine receptor subunit beta-40101
Neuronal acetylcholine receptor subunit alpha-50101
Acetylcholinesterase0101
Sodium- and chloride-dependent creatine transporter 10101
Choline O-acetyltransferase 0001
Neuronal acetylcholine receptor subunit alpha-60101
Neuronal acetylcholine receptor subunit alpha-90101
Neuronal acetylcholine receptor subunit alpha-70101
Solute carrier family 22 member 10102
High affinity choline transporter 10101
Neuronal acetylcholine receptor subunit alpha-100101
Solute carrier family 22 member 20102
USP1 protein, partial3003
Microtubule-associated protein tau3003
cytochrome P450 family 3 subfamily A polypeptide 44004
estrogen nuclear receptor alpha5005
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a1001
heat shock protein beta-11001
importin subunit beta-1 isoform 12002
snurportin-12002
GTP-binding nuclear protein Ran isoform 11001
lamin isoform A-delta104004
Rap guanine nucleotide exchange factor 32002
Cellular tumor antigen p533003
Glutathione S-transferase P0202
Alpha-tocopherol transfer protein0011
Prothrombin 0101
Glandular kallikrein0101
Cell division protein FtsZ0012
acetylcholinesterase2002
GLI family zinc finger 33003
G2002
Histone H2A.x3003
peripheral myelin protein 221001
Interferon beta2002
HLA class I histocompatibility antigen, B alpha chain 2002
Inositol hexakisphosphate kinase 12002
cytochrome P450 2C9, partial2002
Chain A, TYROSYL-DNA PHOSPHODIESTERASE2002
Chain A, Beta-lactamase2002
Chain A, Putative fructose-1,6-bisphosphate aldolase2002
Chain A, HADH2 protein1001
Chain B, HADH2 protein1001
Chain A, JmjC domain-containing histone demethylation protein 3A1001
Chain A, 2-oxoglutarate Oxygenase1001
Chain A, ATP-DEPENDENT DNA HELICASE Q12002
Chain A, Casein kinase II subunit alpha0101
Luciferase3003
endonuclease IV2002
15-lipoxygenase, partial1001
Mcl-10101
acetyl-CoA acetyltransferase/HMG-CoA reductase0101
RAR-related orphan receptor gamma3003
TDP1 protein4004
apical membrane antigen 1, AMA12002
regulator of G-protein signaling 42002
bromodomain adjacent to zinc finger domain 2B2002
unnamed protein product0101
IDH12002
heat shock 70kDa protein 1A0101
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)1001
Aldehyde oxidase 10101
serine-protein kinase ATM isoform a1001
Bloom syndrome protein isoform 13003
hemoglobin subunit beta1001
cellular tumor antigen p53 isoform a1001
cytochrome P450 2C9 precursor1001
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 11001
runt-related transcription factor 1 isoform AML1b1001
vitamin D3 receptor isoform VDRA3003
fructose-bisphosphate aldolase A1001
thyroid hormone receptor beta isoform a3003
thyroid hormone receptor beta isoform 22002
core-binding factor subunit beta isoform 21001
glyceraldehyde-3-phosphate dehydrogenase isoform 11001
DNA polymerase beta2002
mitogen-activated protein kinase 12002
dual specificity protein phosphatase 30101
ubiquitin carboxyl-terminal hydrolase 2 isoform a2002
eukaryotic translation initiation factor 4 gamma 1 isoform 40101
serine/threonine-protein kinase PLK11001
mothers against decapentaplegic homolog 3 isoform 10101
histone-lysine N-methyltransferase 2A isoform 2 precursor1001
nuclear factor erythroid 2-related factor 2 isoform 11001
peptidyl-prolyl cis-trans isomerase NIMA-interacting 12002
DNA polymerase eta isoform 12002
heat shock cognate 71 kDa protein isoform 10101
eukaryotic translation initiation factor 4E isoform 10101
nuclear receptor ROR-gamma isoform 11001
geminin2002
DNA polymerase kappa isoform 12002
Vif0101
Tat0101
muscleblind-like protein 1 isoform 11001
histone acetyltransferase KAT2A isoform 12002
DNA dC->dU-editing enzyme APOBEC-3G isoform 10101
dual specificity protein phosphatase 60101
heat shock cognate 71 kDa protein isoform 20101
Serine/threonine-protein kinase PLK40101
Inhibitor of nuclear factor kappa-B kinase subunit beta0101
Aurora kinase A0101
Polyunsaturated fatty acid lipoxygenase ALOX15B1001
Acetylcholinesterase0102
Carbonic anhydrase 120101
NUAK family SNF1-like kinase 10101
Glutathione reductase, mitochondrial0303
cAMP-dependent protein kinase catalytic subunit alpha0101
Epidermal growth factor receptor0101
Renin0101
Carbonic anhydrase 10102
Carbonic anhydrase 20102
Receptor tyrosine-protein kinase erbB-20101
Amyloid-beta precursor protein0101
Insulin receptor0101
Nucleophosmin0101
Carbonic anhydrase 30101
Proto-oncogene tyrosine-protein kinase receptor Ret0101
Insulin-like growth factor 1 receptor0101
Muscarinic acetylcholine receptor M10101
Muscarinic acetylcholine receptor M30101
Muscarinic acetylcholine receptor M40101
Hepatocyte growth factor receptor0101
Muscarinic acetylcholine receptor M50101
Platelet-derived growth factor receptor beta0101
Cytochrome P450 2D60202
Glutathione S-transferase Mu 10101
Muscarinic acetylcholine receptor M20101
Cyclin-dependent kinase 40101
Angiotensin-converting enzyme 0101
Proto-oncogene tyrosine-protein kinase Src0101
Macrophage migration inhibitory factor0202
Serine/threonine-protein kinase B-raf0101
Aldo-keto reductase family 1 member B10101
cAMP-dependent protein kinase catalytic subunit alpha0101
Casein kinase II subunit alpha 0101
Glutamate receptor 11214
Glutamate receptor 22215
Glutamate receptor 31214
Glutamate receptor 41214
Casein kinase II subunit alpha'0101
Cyclin-A20101
Amine oxidase [flavin-containing] A0011
5'-nucleotidase0101
cAMP-dependent protein kinase catalytic subunit gamma0101
cAMP-dependent protein kinase catalytic subunit beta0101
Carbonic anhydrase 40101
Carbonic anhydrase 60101
G1/S-specific cyclin-D10101
Cyclin-dependent kinase 20101
Adenosine receptor A10101
Cruzipain0101
Adenosine receptor A2a0101
RAC-alpha serine/threonine-protein kinase0101
Bifunctional epoxide hydrolase 20101
Carbonic anhydrase 5A, mitochondrial0101
Vascular endothelial growth factor receptor 30101
Vascular endothelial growth factor receptor 20101
Receptor-type tyrosine-protein kinase FLT30101
Mitogen-activated protein kinase kinase kinase 80101
Carbonic anhydrase 70101
Histamine H2 receptor1001
Glycogen synthase kinase-3 beta0101
Squalene monooxygenase 0101
Serine/threonine-protein kinase PLK10101
Ephrin type-B receptor 40101
Ectonucleoside triphosphate diphosphohydrolase 10101
Beta-secretase 10101
Casein kinase II subunit beta0101
Casein kinase II subunit beta0101
Casein kinase II subunit alpha0202
Cyclin-A10101
Lactoperoxidase0001
Cholinesterase0001
Inositol monophosphatase 11001
DNA primase0101
Angiopoietin-1 receptor0101
Focal adhesion kinase 10101
Tyrosine-protein kinase Lyn 0101
Polypeptide N-acetylgalactosaminyltransferase 20112
Dual specificity tyrosine-phosphorylation-regulated kinase 1A0101
ELAV-like protein 30101
Carbonic anhydrase 90101
Thioredoxin reductase 1, cytoplasmic0101
Solute carrier family 22 member 60101
5'-nucleotidase0101
Tyrosine-protein kinase Fgr0101
Integrase 0101
Thioredoxin reductase 30101
Glutathione S-transferase0101
Carbonic anhydrase 130101
Rap guanine nucleotide exchange factor 41001
Aurora kinase B0101
Translin-associated protein X0101
Carbonic anhydrase 130101
G-protein coupled receptor 350112
Thioredoxin reductase 2, mitochondrial0101
Carbonic anhydrase 140101
ALK tyrosine kinase receptor0101
DNA polymerase iota0101
DNA polymerase eta0101
Carbonic anhydrase 5B, mitochondrial0101
Cysteine protease ATG4B0101
phosphoglycerate kinase1001
M17 leucyl aminopeptidase0101
likely tRNA 2'-phosphotransferase0101
Genome polyprotein 0112
chaperonin-containing TCP-1 beta subunit homolog1001
SMAD family member 21001
ATAD5 protein, partial2002
Fumarate hydratase1001
SMAD family member 31001
thioredoxin glutathione reductase1001
hypothetical protein, conserved1001
cytochrome P450 2D61001
polyprotein1001
vitamin D (1,25- dihydroxyvitamin D3) receptor1001
aryl hydrocarbon receptor1001
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a1001
thyroid stimulating hormone receptor1001
thyrotropin-releasing hormone receptor1001
v-jun sarcoma virus 17 oncogene homolog (avian)1001
eyes absent homolog 2 isoform a1001
lethal(3)malignant brain tumor-like protein 1 isoform I1001
relaxin receptor 1 isoform 11001
Voltage-dependent calcium channel gamma-2 subunit1001
Flavin reductase (NADPH)0011
large T antigen0101
Chain A, GLUTAMATE RECEPTOR SUBUNIT 20101
Chain A, Glutamate Receptor Subunit 20101
Chain B, Glutamate Receptor Subunit 20101
Chain A, Slr1257 protein0011
Chain A, Glucosamine--fructose-6-phosphate aminotransferase [isomerizing]0101
glp-1 receptor, partial1001
beta-2 adrenergic receptor1001
Metabotropic glutamate receptor 80202
Metabotropic glutamate receptor 60113
Glutamate receptor ionotropic, NMDA 2D0101
Excitatory amino acid transporter 40101
Glutamate receptor ionotropic, NMDA 3B0101
Bifunctional aspartokinase/homoserine dehydrogenase 10101
Prothrombin0011
Integrin beta-30011
Integrin alpha-IIb0011
ATP-citrate synthase 0101
Glutamate receptor ionotropic, kainate 10213
Metabotropic glutamate receptor 10112
Metabotropic glutamate receptor 20011
Metabotropic glutamate receptor 30011
Metabotropic glutamate receptor 40112
Metabotropic glutamate receptor 50011
Metabotropic glutamate receptor 60011
Metabotropic glutamate receptor 70011
Glutamate receptor ionotropic, NMDA 1 0213
Glutamate receptor ionotropic, kainate 10112
Metabotropic glutamate receptor 50113
Glutamate receptor ionotropic, kainate 20213
Glutamate receptor 10213
Glutamate receptor 20213
Glutamate receptor 30112
Glutamate receptor ionotropic, kainate 30202
Excitatory amino acid transporter 10203
Excitatory amino acid transporter 20203
Excitatory amino acid transporter 30203
Metabotropic glutamate receptor 80011
Glutamate receptor 40213
Excitatory amino acid transporter 3 0001
Glutamate racemase0001
Metabotropic glutamate receptor 80112
Fatty-acid amide hydrolase 10101
Glutamate receptor ionotropic, NMDA 2A 0213
Glutamate receptor ionotropic, NMDA 2B0213
Glutamate receptor ionotropic, NMDA 2C0213
Glutamate receptor ionotropic, kainate 40202
Glutamate carboxypeptidase 20101
Glutamate receptor ionotropic, NMDA 10101
Glutamate receptor ionotropic, NMDA 2A0101
Glutamate receptor ionotropic, kainate 20112
Glutamate receptor ionotropic, kainate 30101
Glutamate receptor ionotropic, NMDA 2B0101
Metabotropic glutamate receptor 10113
Metabotropic glutamate receptor 20113
Metabotropic glutamate receptor 70113
Metabotropic glutamate receptor 30113
Metabotropic glutamate receptor 40113
Glutamate receptor ionotropic, NMDA 2C0101
Glutamate receptor ionotropic, kainate 50101
Carbonic anhydrase-like protein, putative0001
Glutamate receptor ionotropic, NMDA 2D0213
Glutamate receptor ionotropic, kainate 50202
Glutamate racemase0001
Prolyl 4-hydroxylase0101
Glutamate receptor ionotropic, NMDA 3A0101
Glutamate receptor ionotropic, NMDA 3B0213
Alpha-ketoglutarate-dependent dioxygenase FTO0101
Glutamate receptor ionotropic, NMDA 3A0213
Sucrase-isomaltase 0101
Ceramide glucosyltransferase0101
Beta-galactosidase0101
Lysosomal alpha-glucosidase0101
Non-lysosomal glucosylceramidase0101
Photosystem I iron-sulfur center 0001
Chain A, Ferritin light chain1001
Chain A, Cruzipain1001
acid sphingomyelinase1001
C-X-C chemokine receptor type 5 isoform 10101
ubiquitin-conjugating enzyme E2 N0101
C-C chemokine receptor type 60101
apelin receptor0101
bcl-2-related protein A10101
streptokinase A precursor0011
Endoglycoceramidase II 0001
Protein kinase C alpha type0101
Estrogen receptor0011
Protein kinase C delta type0101
Protein kinase C epsilon type0101
Protein kinase C zeta type0101
cAMP-dependent protein kinase catalytic subunit alpha 0101
Protein kinase C gamma type0101
Protein kinase C beta type0101
Estrogen receptor beta0011
Protein kinase C eta type0101
Sphingosine kinase 20101
Sphingosine kinase 10101
Protein kinase C theta type0101
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]