Page last updated: 2024-09-27

Hypobetalipoproteinemias

Conditions with abnormally low levels of BETA-LIPOPROTEINS (low density lipoproteins or LDL) in the blood. It is defined as LDL values equal to or less than the 5th percentile for the population. They include the autosomal dominant form involving mutation of the APOLIPOPROTEINS B gene, and the autosomal recessive form involving mutation of the microsomal triglyceride transfer protein. All are characterized by low LDL and dietary fat malabsorption.

Synonyms(1)

Synonym
Hypobetalipoproteinemias

Research

Studies (117)

TimeframeStudies, This Condition (%)All Conditions %
pre-199033 (28.21)23.3326
1990's42 (35.90)12.5806
2000's21 (17.95)18.1394
2010's18 (15.38)28.8240
2020's3 (2.56)9.53
DrugIndicatedRelationship StrengthStudiesTrials
adenine0low10
niacin0low10
palmitic acid0medium11
thymine0low30
1-anilino-8-naphthalenesulfonate0low60
carbamazepine0low10
gemfibrozil0low10
probucol0low20
sulfasalazine0low10
estriol0low10
trichlorfon0low10
estrone0low10
galactose0low10
tyrosine0low20
leucine0medium31
methionine0low10
arginine0low10
d-alpha tocopherol0medium211
tocopherols0low10
technetium0low10
acetylglucosamine0low10
deuterium0medium21
phytanic acid0low10
ursodeoxycholic acid0low10
glutamic acid0low10
acetylgalactosamine0low10
lovastatin0low20
colestipol0low10
lathosterol0low10
tyloxapol0low10
tocophersolan0low10
fibrinogen0low20
gamma-tocopherol0low10
2-amino-5-hydroxyvaleric acid0low10
campesterol0low10
leupeptins0low10
mevalonic acid0low10
acetylleucyl-leucyl-norleucinal0low10
retinol0medium81
sodium dodecyl sulfate0low10
17-ketosteroids0low10
retinol palmitate0low10
phosphocreatine0low10
phytosterols0low10
cosyntropin0low10
ubiquinone0low10
mannans0medium11
eliglustat tartrate0low10
globotriaosylceramide0low10
technetium tc 99m sulfur colloid0low10
guanine0low20
cholestyramine resin0low10

Protein Targets (479)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain B, pheromone binding protein0011
Chain A, pheromone binding protein0011
Chain A, JmjC domain-containing histone demethylation protein 3A2002
Chain A, RNA-directed RNA polymerase NS50101
acid sphingomyelinase2002
thioredoxin reductase4004
USP1 protein, partial120012
TDP1 protein110011
vitamin D3 receptor isoform VDRA4004
importin subunit beta-1 isoform 15005
flap endonuclease 12002
serine/threonine-protein kinase PLK11001
snurportin-15005
peptidyl-prolyl cis-trans isomerase NIMA-interacting 12002
GTP-binding nuclear protein Ran isoform 13003
DNA polymerase eta isoform 11001
DNA polymerase iota isoform a (long)4004
urokinase-type plasminogen activator precursor3003
plasminogen precursor3003
urokinase plasminogen activator surface receptor precursor3003
geminin100010
DNA polymerase kappa isoform 12002
fibroblast growth factor 22 isoform 1 precursor0001
Mitogen-activated protein kinase 130101
Beta-lactamase0101
Transthyretin0022
Fatty acid-binding protein, intestinal0213
Fatty acid-binding protein, adipocyte0325
Cyclin-A20101
Cannabinoid receptor 10112
Cyclin-dependent kinase 20112
Choline O-acetyltransferase0101
Mitogen-activated protein kinase 120101
Guanine nucleotide-binding protein G3003
Fatty acid-binding protein 50224
Fatty acid-binding protein 50011
Mitogen-activated protein kinase 110101
Mitogen-activated protein kinase 140101
Fibrinogen C domain-containing protein 10101
Putative glycosyltransferase WbgO0001
Cytochrome P450 3A40102
Killer cell lectin-like receptor subfamily B member 1A0101
Early activation antigen CD690101
Chain A, Cruzipain4004
nuclear receptor ROR-gamma isoform 15005
survival motor neuron protein isoform d3003
Calpain small subunit 10101
Calpain-1 catalytic subunit0101
Cathepsin B0101
ATP-dependent translocase ABCB10113
Replicase polyprotein 1ab0101
Replicase polyprotein 1ab0101
Calpain-1 catalytic subunit0101
Inositol monophosphatase 12002
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE6006
Chain A, MTA/SAH nucleosidase0101
Chain A, Ribosome-inactivating protein alpha-trichosanthin0011
Chain A, Ricin A chain0011
Chain A, Ribosome-inactivating protein 30011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
RAR-related orphan receptor gamma8008
AR protein160016
nuclear receptor subfamily 1, group I, member 37007
cytochrome P450 family 3 subfamily A polypeptide 48008
glucocorticoid receptor [Homo sapiens]8008
estrogen-related nuclear receptor alpha140014
pregnane X nuclear receptor9009
estrogen nuclear receptor alpha180018
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a5005
nuclear factor erythroid 2-related factor 2 isoform 24004
heat shock protein beta-16006
tumor susceptibility gene 101 protein1001
lamin isoform A-delta108008
Voltage-dependent calcium channel gamma-2 subunit4004
Bile salt export pump010010
Cyclin-dependent kinase 10101
Heat shock protein HSP 90-beta0101
Glutamate receptor 24217
Xanthine dehydrogenase/oxidase0202
TAR DNA-binding protein 434004
Protein mono-ADP-ribosyltransferase PARP150101
Leucine-rich repeat serine/threonine-protein kinase 20202
ATPase family AAA domain-containing protein 51001
Ataxin-21001
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
phosphopantetheinyl transferase5005
NFKB1 protein, partial2002
GLS protein2002
thyroid stimulating hormone receptor8008
alpha-galactosidase3003
euchromatic histone-lysine N-methyltransferase 24004
cytochrome P450 2C19 precursor1001
chromobox protein homolog 15005
muscarinic acetylcholine receptor M11001
lethal factor (plasmid)2002
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 phosphofructokinase3003
Chain A, Beta-lactamase4004
acetylcholinesterase5005
retinoic acid nuclear receptor alpha variant 1120012
IDH13003
thyroid hormone receptor beta isoform a2002
mitogen-activated protein kinase 13003
Vpr1001
ATP-binding cassette sub-family C member 30404
Multidrug resistance-associated protein 40405
Bile salt export pump0101
Albumin0011
Major prion protein0011
Cellular tumor antigen p538008
Sodium channel protein type 1 subunit alpha0101
Sodium channel protein type 2 subunit alpha0101
Sodium channel protein type 3 subunit alpha0101
Cytochrome P450 2C9 0415
UDP-glucuronosyltransferase 2B70002
Cytochrome P450 2B60011
Sodium channel protein type 4 subunit alpha0102
Cytochrome P450 2J20303
Potassium voltage-gated channel subfamily H member 20101
Sodium channel protein type 9 subunit alpha0202
Frizzled-80011
Canalicular multispecific organic anion transporter 10202
P2X purinoceptor 40101
Microtubule-associated protein tau5005
activating transcription factor 65005
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a7007
Rap guanine nucleotide exchange factor 33003
Glutathione S-transferase P0101
Alpha-tocopherol transfer protein0011
GLI family zinc finger 39009
estrogen receptor 2 (ER beta)4004
progesterone receptor4004
thyroid hormone receptor beta isoform 26006
Estrogen receptor0416
Glucocorticoid receptor0213
Sex hormone-binding globulin0022
Glycine receptor subunit alpha-10202
Corticosteroid-binding globulin0202
Polyunsaturated fatty acid lipoxygenase ALOX150202
Androgen receptor0707
Glycine receptor subunit beta0202
Glycine receptor subunit alpha-20202
Glycine receptor subunit alpha-30202
Sodium-dependent serotonin transporter0404
Alpha-synuclein2305
Solute carrier organic anion transporter family member 1A10202
Lanosterol 14-alpha demethylase0011
Olfactory receptor 51E20022
UDP-glucuronosyltransferase 1A100001
Chain A, HADH2 protein2002
Chain B, HADH2 protein2002
endonuclease IV1001
ATAD5 protein, partial2002
GALC protein1001
nonstructural protein 11001
retinoid X nuclear receptor alpha8008
G5005
peroxisome proliferator activated receptor gamma6006
vitamin D (1,25- dihydroxyvitamin D3) receptor6006
arylsulfatase A1001
Bloom syndrome protein isoform 11001
hexokinase-4 isoform 11001
peripheral myelin protein 22 isoform 11001
parathyroid hormone/parathyroid hormone-related peptide receptor precursor3003
glucokinase regulatory protein1001
cytochrome P450 3A4 isoform 13003
Gamma-aminobutyric acid receptor subunit pi3003
Interferon beta5005
HLA class I histocompatibility antigen, B alpha chain 5005
Steryl-sulfatase0101
Aromatase0101
17-beta-hydroxysteroid dehydrogenase type 10203
Gamma-aminobutyric acid receptor subunit beta-13003
Gamma-aminobutyric acid receptor subunit delta3003
Gamma-aminobutyric acid receptor subunit gamma-23003
Gamma-aminobutyric acid receptor subunit alpha-53003
Gamma-aminobutyric acid receptor subunit alpha-33003
Gamma-aminobutyric acid receptor subunit gamma-13003
Gamma-aminobutyric acid receptor subunit alpha-23003
Gamma-aminobutyric acid receptor subunit alpha-43003
Gamma-aminobutyric acid receptor subunit gamma-33003
Gamma-aminobutyric acid receptor subunit alpha-63003
Mu-type opioid receptor0011
5-hydroxytryptamine receptor 2B0202
Gamma-aminobutyric acid receptor subunit alpha-13003
Gamma-aminobutyric acid receptor subunit beta-33003
Gamma-aminobutyric acid receptor subunit beta-23003
Mu-type opioid receptor0011
Cytochrome P450 1B10101
GABA theta subunit3003
Inositol hexakisphosphate kinase 15005
Estrogen receptor beta0113
Ghrelin O-acyltransferase0101
Gamma-aminobutyric acid receptor subunit epsilon3003
Broad substrate specificity ATP-binding cassette transporter ABCG20202
cytochrome P450 2C9, partial5005
Chain A, TYROSYL-DNA PHOSPHODIESTERASE3003
Chain A, Dihydrofolate reductase0011
Chain A, Putative fructose-1,6-bisphosphate aldolase2002
Chain A, 2-oxoglutarate Oxygenase2002
Chain A, Ferritin light chain2002
glp-1 receptor, partial3003
aldehyde dehydrogenase 1 family, member A15005
glucocerebrosidase1001
lysosomal alpha-glucosidase preproprotein2002
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 13003
DNA polymerase beta1001
Thymidylate synthase0202
Thymidylate synthase0101
Dihydrofolate reductase0011
Aldo-keto reductase family 1 member B10101
Folylpolyglutamate synthase, mitochondrial0001
Solute carrier organic anion transporter family member 1A30101
Folylpolyglutamate synthase, mitochondrial0001
Multidrug resistance associated protein0001
histone acetyltransferase KAT2A isoform 13003
Beta-galactosidase0101
Lipopolysaccharide heptosyltransferase 10101
PA-I galactophilic lectin0011
Jacalin0011
Luciferase3003
interleukin 83003
Smad32002
EWS/FLI fusion protein3003
aryl hydrocarbon receptor1001
cytochrome P450 2C9 precursor2002
histone deacetylase 9 isoform 32002
nuclear factor erythroid 2-related factor 2 isoform 18008
muscleblind-like protein 1 isoform 12002
Fatty acid-binding protein, liver0202
Cytochrome P450 2C80101
Peroxisome proliferator-activated receptor gamma0011
Histamine H2 receptor2002
Cannabinoid receptor 20011
Guanylate cyclase soluble subunit alpha-10011
Guanylate cyclase soluble subunit beta-10011
Peroxisome proliferator-activated receptor alpha2024
Solute carrier organic anion transporter family member 1B30303
CDGSH iron-sulfur domain-containing protein 10404
Solute carrier organic anion transporter family member 1B10404
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
regulator of G-protein signaling 41001
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
Glutathione reductase, mitochondrial0202
Bifunctional aspartokinase/homoserine dehydrogenase 10101
Prothrombin0011
Carbonic anhydrase 10204
Carbonic anhydrase 20204
Integrin beta-30011
Integrin alpha-IIb0011
ATP-citrate synthase 0101
Glutamate receptor 10213
Glutamate receptor 30213
Glutamate receptor 40213
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 0214
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 0214
Glutamate receptor ionotropic, NMDA 2B0214
Glutamate receptor ionotropic, NMDA 2C0214
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, putative0002
Glutamate receptor ionotropic, NMDA 2D0214
Glutamate receptor ionotropic, kainate 50202
Glutamate racemase0001
Prolyl 4-hydroxylase0101
Glutamate receptor ionotropic, NMDA 3A0101
Glutamate receptor ionotropic, NMDA 3B0214
Alpha-ketoglutarate-dependent dioxygenase FTO0101
Glutamate receptor ionotropic, NMDA 3A0214
Purine nucleoside phosphorylase0202
Hypoxanthine-guanine phosphoribosyltransferase0001
Ricin0101
2-amino-4-hydroxy-6-hydroxymethyldihydropteridine pyrophosphokinase0011
Purine nucleoside phosphorylase 0012
Shiga toxin subunit A0101
Guanine deaminase0001
Chain A, AMINOPEPTIDASE0101
Chain A, AMINOPEPTIDASE0101
Chain A, Leucine Aminopeptidase0101
Alkaline phosphatase, tissue-nonspecific isozyme0101
Intestinal-type alkaline phosphatase0101
Large neutral amino acids transporter small subunit 10303
Proton-coupled amino acid transporter 10102
Phospholipase A-2-activating protein0101
Chain A, Antigen Cd11a (p180)0101
15-lipoxygenase, partial2002
pregnane X receptor2002
hypoxia-inducible factor 1 alpha subunit3003
SMAD family member 24004
SMAD family member 34004
thioredoxin glutathione reductase2002
caspase 7, apoptosis-related cysteine protease1001
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)2002
PINK11001
isocitrate dehydrogenase 1, partial1001
farnesoid X nuclear receptor5005
cytochrome P450 2D61001
Parkin1001
peroxisome proliferator-activated receptor delta5005
caspase-31001
thyrotropin-releasing hormone receptor2002
v-jun sarcoma virus 17 oncogene homolog (avian)3003
nuclear receptor subfamily 1, group I, member 22002
potassium voltage-gated channel subfamily H member 2 isoform d2002
bcl-2-related protein A10101
3-hydroxy-3-methylglutaryl-coenzyme A reductase0101
Integrin beta-20101
Intercellular adhesion molecule 10101
Aldo-keto reductase family 1 member B10202
Neutrophil elastase0101
Insulin receptor 0101
Integrin alpha-L0112
Substance-K receptor0202
Sodium-dependent noradrenaline transporter 0202
Adenosine receptor A10202
Prostaglandin G/H synthase 20101
Nuclear receptor ROR-gamma2002
3-hydroxy-3-methylglutaryl-coenzyme A reductase 0101
Spike glycoprotein3003
Sodium-dependent dopamine transporter 0202
Histone deacetylase 10101
Lanosterol 14-alpha demethylase0101
Rap guanine nucleotide exchange factor 41001
Histone deacetylase 20101
Acyl-CoA:cholesterol acyltransferase 0101
Histone deacetylase 60101
Chain A, Methionyl-tRNA synthetase0011
Chain A, Methionyl-tRNA synthetase0011
Chain A, Aminopeptidase0101
Chain A, Methionine aminopeptidase0101
S-ribosylhomocysteine lyase0101
Adenylate cyclase type 50001
S-adenosylmethionine synthase isoform type-10001
S-adenosylmethionine synthase isoform type-20001
Fatty acid synthase0101
bromodomain adjacent to zinc finger domain 2B1001
Polyphenol oxidase 20102
Amyloid-beta precursor protein0202
Neuronal acetylcholine receptor subunit alpha-41001
Cholesteryl ester transfer protein0101
Neuronal acetylcholine receptor subunit beta-21001
D-amino-acid oxidase0101
Hydroxycarboxylic acid receptor 30011
Nicotinamidase0101
Hydroxycarboxylic acid receptor 20011
Hydroxycarboxylic acid receptor 20213
Multidrug and toxin extrusion protein 10101
D-aspartate oxidase0101
Hydroxycarboxylic acid receptor 20112
Chain A, Fatty acid-binding protein, adipocyte0101
peripheral myelin protein 222002
Acetylcholinesterase0101
Toll-like receptor 20101
Prostaglandin G/H synthase 1 0101
Tyrosine-protein phosphatase non-receptor type 10101
Prostaglandin G/H synthase 20101
Transient receptor potential cation channel subfamily V member 20101
Fatty acid-binding protein, liver0101
Polyunsaturated fatty acid lipoxygenase ALOX150101
Vascular cell adhesion protein 10101
NAD-dependent protein deacylase sirtuin-5, mitochondrial0101
Chain A, PLASMA RETINOL-BINDING PROTEIN PRECURSOR0011
thyroid stimulating hormone receptor3003
ubiquitin carboxyl-terminal hydrolase 2 isoform a2002
Retinol-binding protein 40011
Beta-lactoglobulin0011
Disintegrin and metalloproteinase domain-containing protein 172002
Chain A, ATP-DEPENDENT DNA HELICASE Q11001
Bifunctional epoxide hydrolase 20101
Chain A, Glutathione S-transferase0101
Histone H2A.x1001
Replicase polyprotein 1ab0011
Solute carrier organic anion transporter family member 2B1 0202
Tumor necrosis factor0011
Interstitial collagenase0101
Fibroblast growth factor 10011
Thromboxane-A synthase 0101
Mitogen-activated protein kinase 10101
Caspase-10101
Flavin reductase (NADPH)0011
Bifunctional purine biosynthesis protein ATIC0101
Sodium/bile acid cotransporter0202
Cystine/glutamate transporter0101
Thymidine phosphorylase0101
Chain A, CHORISMATE MUTASE0101
Chain A, TYROSYL-tRNA SYNTHETASE0011
Carbonic anhydrase 120001
Plasma kallikrein0001
Carbonic anhydrase 30001
Carbonic anhydrase 40001
Carbonic anhydrase 60001
Adenosine receptor A10001
Adenosine receptor A2a0001
Carbonic anhydrase 5A, mitochondrial0001
Carbonic anhydrase0001
Carbonic anhydrase 70001
Carbonic anhydrase0001
SLC16A10 protein0001
Carbonic anhydrase 90001
Carbonic anhydrase 0001
Carbonic anhydrase0001
Carbonic anhydrase0001
Carbonic anhydrase 0001
Tubulin--tyrosine ligase0101
Monocarboxylate transporter 100001
Carbonic anhydrase 150001
Taste receptor type 2 member 140001
Carbonic anhydrase 140001
Carbonic anhydrase 5B, mitochondrial0001
Ubiquitin carboxyl-terminal hydrolase 20101
Vitamin D3 receptor0112
Ileal sodium/bile acid cotransporter0101
G-protein coupled bile acid receptor 10011
Bile acid receptor0011
M1-family alanyl aminopeptidase0101
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]