MCID: HYP081
MIFTS: 42

Hypolipoproteinemia

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Hypolipoproteinemia

MalaCards integrated aliases for Hypolipoproteinemia:

Name: Hypolipoproteinemia 12 50 14
Lipoprotein Deficiencies 12 52
Lipoprotein Disorder 52 69
Hypolipoproteinaemia 12
Hypolipoproteinemias 42

Classifications:



External Ids:

Disease Ontology 12 DOID:1387
ICD10 33 E78.6
ICD9CM 35 272.5
MeSH 42 D007009
UMLS 69 C0020623

Summaries for Hypolipoproteinemia

NIH Rare Diseases : 50 hypolipoproteinemia refers to unusually low levels of fats (lipids) in the blood. low lipid levels may be caused by rare genetic conditions, or be a sign of another disorder such as overactive thyroid, anemia, undernutrition, cancer, chronic infection, or impaired absorption of foods from the digestive tract. associated genetic disorders includes abetalipoproteinemia, familial hypobetalipoproteinemia, and chylomicron retention disease. signs and symptoms in the the genetic or familial form of hypolipoproteinemia vary. in hypobetalipoproteinemia the low density lipoprotein (ldl) cholesterol levels are very low, yet people with this syndrome typically have no symptoms nor require treatment. other forms result in absent or near absent ldl levels and can cause serious symptoms in infancy and early childhood. treatment for hypoproteinemia varies depending on the underlying cause and signs and symptoms present in each individual.  last updated: 12/1/2016

MalaCards based summary : Hypolipoproteinemia, also known as lipoprotein deficiencies, is related to hypobetalipoproteinemia and fish-eye disease. An important gene associated with Hypolipoproteinemia is ABCA1 (ATP Binding Cassette Subfamily A Member 1), and among its related pathways/superpathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The drugs Folic Acid and Niacin have been mentioned in the context of this disorder. Affiliated tissues include liver, thyroid and endothelial, and related phenotypes are Decreased free cholesterol and Increased LDL uptake

Wikipedia : 72 Hypolipoproteinemia, hypolipidemia, or hypolipidaemia (British English) is a form of dyslipidemia that... more...

Related Diseases for Hypolipoproteinemia

Diseases related to Hypolipoproteinemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
id Related Disease Score Top Affiliating Genes
1 hypobetalipoproteinemia 29.0 ANGPTL3 APOB APOE LCAT MTTP SAR1B
2 fish-eye disease 28.2 APOA1 APOA2 APOB APOE LCAT LPA
3 tangier disease 12.1
4 abca1-associated familial high density lipoprotein deficiency 11.8
5 abca1-related familial high density lipoprotein deficiency 11.8
6 apoa1-associated familial high density lipoprotein deficiency 11.8
7 hypoalphalipoproteinemia 11.8
8 abetalipoproteinemia 10.8
9 xk aprosencephaly 10.5 APOB APOE
10 abducens nerve neoplasm 10.5 APOB LPL
11 hypercholesterolemia, due to ligand-defective apo b 10.5 APOB APOE
12 immunodeficiency 19 10.5 APOE LPL
13 lipoprotein glomerulopathy 10.4 APOE LCAT
14 cataract, autosomal dominant congenital 4 10.4 APOB APOE
15 cirrhotic cardiomyopathy 10.4 APOE LPL
16 aquagenic syringeal acrokeratoderm 10.3 APOA1 LCAT
17 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression 10.3 APOB APOE LPL
18 delta-1-pyrroline-5-carboxylate dehydrogenase deficiency 10.2 APOB APOE LCAT
19 pars planitis 10.2 APOA1 APOE
20 hemochromatosis, type 5 10.2 ABCA1 APOE
21 otospondylomegaepiphyseal dysplasia 10.2 APOA1 APOB
22 norum disease 10.2
23 arthritis 10.1 ABCA1 APOE LPA
24 joubert syndrome 21 10.1 ABCA1 APOA1 APOB
25 choreoacanthocytosis 10.1
26 legg-calve-perthes disease 10.1 APOA1 APOB
27 amelogenesis imperfecta, type iia3 10.1 APOA1 APOE LPL
28 fetal parvovirus syndrome 10.0 APOA1 APOB LCAT
29 pontocerebellar hypoplasia 10.0 APOA1 APOB APOE
30 melorheostosis 10.0 APOA1 APOB APOE
31 amyloidosis nodular localized cutaneous 9.9 APOA1 LCAT LPA
32 dental anomalies and short stature 9.9 APOA1 APOB LPA
33 malignant type ab thymoma 9.9 APOA1 APOB APOE
34 angina pectoris 9.9 APOA1 APOB LPA
35 hereditary congenital facial paresis 9.9 APOA1 APOA2
36 malignant fibrous histiocytoma of bone 9.8 APOB APOE LPA LPL
37 stroke, ischemic 9.8 APOB APOE LPA
38 brain injury 9.8
39 hepatitis 9.8
40 traumatic brain injury 9.8
41 short stature, brachydactyly, intellectual developmental disability, and seizures 9.8 APOA1 APOA2 LCAT
42 islet cell tumor 9.8 APOA1 APOB APOE LPL
43 afibrinogenemia, congenital 9.6 APOA1 APOA2 LPA
44 autoimmune hepatitis 9.6 APOB APOE LPA
45 glossopharyngeal nerve disease 9.6 APOA1 APOB APOE LPA
46 hypertension, essential 9.6 APOA1 APOB LPA LPL
47 macular degeneration, age-related, 1 9.6 ABCA1 APOB APOE
48 myelophthisic anemia 9.6 APOA1 APOB APOE LPA
49 carnitine deficiency, systemic primary 9.5 APOA1 APOB MTTP SAR1B
50 familial osteochondritis dissecans 9.4 APOA1 APOA2 APOE LCAT

Graphical network of the top 20 diseases related to Hypolipoproteinemia:



Diseases related to Hypolipoproteinemia

Symptoms & Phenotypes for Hypolipoproteinemia

GenomeRNAi Phenotypes related to Hypolipoproteinemia according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.43 ABCA1 APOA1 APOB APOE LPA LPL
2 Increased LDL uptake GR00340-A-1 8.8 APOA1 APOE LPL

MGI Mouse Phenotypes related to Hypolipoproteinemia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 ABCA1 APOA1 APOB APOE LCAT LPL
2 homeostasis/metabolism MP:0005376 9.65 ABCA1 ANGPTL3 APOA1 APOA2 APOB APOE
3 liver/biliary system MP:0005370 9.23 ABCA1 ANGPTL3 APOA1 APOB APOE LCAT

Drugs & Therapeutics for Hypolipoproteinemia

Drugs for Hypolipoproteinemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 37)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
2
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
3
Nicotinamide Approved, Nutraceutical Phase 4 98-92-0 936
4 Antimetabolites Phase 4,Phase 2
5 Hypolipidemic Agents Phase 4,Phase 2
6 Lipid Regulating Agents Phase 4,Phase 2
7 Micronutrients Phase 4,Phase 3
8 Nicotinic Acids Phase 4
9 Trace Elements Phase 4,Phase 3
10 Vasodilator Agents Phase 4
11 Vitamin B Complex Phase 4
12 Vitamins Phase 4,Phase 3
13 Folate Nutraceutical Phase 4
14 Vitamin B3 Nutraceutical Phase 4
15 Vitamin B9 Nutraceutical Phase 4
16 Tocopherol Approved, Nutraceutical Phase 3
17
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
18 Antioxidants Phase 3
19 Protective Agents Phase 3
20 Tocopherols Phase 3
21 Tocotrienols Phase 3
22 Tocotrienol Investigational, Nutraceutical Phase 3 6829-55-6
23
Mipomersen Approved Phase 2 1000120-98-8
24 Anticholesteremic Agents Phase 2
25 Liver Extracts Phase 2
26
Fenofibrate Approved 49562-28-9 3339
27
Adenosine Approved, Investigational 58-61-7 60961
28
Lycopene Approved, Nutraceutical 502-65-8 446925
29 Tomato Approved, Nutraceutical
30
Vitamin A Approved, Nutraceutical, Vet_approved 11103-57-4, 68-26-8 445354
31 Atorvastatin Calcium 134523-03-8
32 Calcium, Dietary
33 Clofibric Acid 882-09-7
34 Hydroxymethylglutaryl-CoA Reductase Inhibitors
35 Retinol palmitate
36 Pharmaceutical Solutions
37 retinol Nutraceutical

Interventional clinical trials:

(show all 19)

id Name Status NCT ID Phase Drugs
1 Exercise Versus Niacin in Patients With Coronary Artery Disease (CAD) and Low High-Density Lipoproteins (HDL) Completed NCT00298909 Phase 4 niaspan (extended-release niacin);niacin
2 Short-term Effect of Extended-release Niacin on Endothelial Function. Completed NCT01942291 Phase 4 Niacin
3 Study of the Absorption of Vitamin E Water-soluble Form (Pegylated) in the Familial Hypocholesterolemia With Chylomicron Retention Completed NCT01457690 Phase 3 Tocofersolan;tocopherol alpha;Tocofersolan and tocopherol alpha
4 Effect of High Protein Diet on Adiponectin and Inflammation Among Overweight and Obese Children Completed NCT01886495 Phase 3
5 Effect of High Protein Diet on Cardiovascular Diseases Risk Factors Among Overweight and Obese Children Completed NCT01886482 Phase 3
6 High Protein Weight Loss Diet, High Sensitivity C-Reactive Protein and Cardiovascular Risks Among Obese Women Completed NCT01763528 Phase 3
7 CER-001 Therapy as a Novel Approach to Treat Genetic Orphan Diseases Recruiting NCT02697136 Phase 3 CER-001;Placebo
8 Measure Liver Fat Content After ISIS 301012 (Mipomersen) Administration Completed NCT00362180 Phase 2 mipomersen;Placebo
9 High-Density Lipoprotein (HDL) Treatment Study Completed NCT00458055 Atorvastatin; Fenofibrate; Niacin
10 Prevalence Assessment and Characterization of Psychological Disorders Associated With Hypobetalipoproteinemia Completed NCT02889614
11 Tomato Consumption and High Density Lipoprotein-cholesterol Completed NCT01342666
12 Mechanisms of Low Levels of Apolipoprotein B Completed NCT00005565
13 Vitamin Replacement in Abetalipoproteinemia Completed NCT00004574
14 Quantitative Genetic Analysis of Lipid Research Clinic Family Data Completed NCT00005188
15 Evaluation of Lipoproteins Recruiting NCT00001168
16 HYPOCHOL : A Genetically-based Strategy to Identify New Targets in Cholesterol Metabolism Recruiting NCT02354079
17 Lipoprotein Metabolism in Normal Volunteers and Patients With High Levels of Lipoproteins Recruiting NCT00001154
18 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
19 Mendelian Reverse Cholesterol Transport Study Suspended NCT01782027 3H-cholesterol bound to albumin

Search NIH Clinical Center for Hypolipoproteinemia

Cochrane evidence based reviews: hypolipoproteinemias

Genetic Tests for Hypolipoproteinemia

Anatomical Context for Hypolipoproteinemia

MalaCards organs/tissues related to Hypolipoproteinemia:

39
Liver, Thyroid, Endothelial, Brain

Publications for Hypolipoproteinemia

Articles related to Hypolipoproteinemia:

id Title Authors Year
1
Significant association between hypolipoproteinemia(a) and lifetime risk of cancer: an autopsy study from a community-based Geriatric Hospital. ( 25164551 )
2014
2
Hypolipoproteinemia and hyperinflammatory cytokines in serum of severe and moderate traumatic brain injury (TBI) patients. ( 17993453 )
2007
3
Acquired hypolipoproteinemia. ( 1582035 )
1992
4
Autoantibodies with antilipoprotein specificity and hypolipoproteinemia in patients with cancer. ( 163682 )
1975
5
Hepatitis secondary to pyrazinamide toxicity: accompaniments of transient hypolipoproteinemia, acanthocytosis, and changes in stomach and small bowel. ( 5411920 )
1970
6
Wolman's disease with hypolipoproteinemia and acanthocytosis: clinical and biochemical observations. ( 5504079 )
1970

Variations for Hypolipoproteinemia

Expression for Hypolipoproteinemia

Search GEO for disease gene expression data for Hypolipoproteinemia.

Pathways for Hypolipoproteinemia

Pathways related to Hypolipoproteinemia according to GeneCards Suite gene sharing:

(show all 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.63 ABCA1 ANGPTL3 APOA1 APOA2 APOB APOE
2
Show member pathways
12.58 ABCA1 APOA1 APOA2 LPL
3
Show member pathways
12.41 APOA1 APOA2 APOB APOE LPL
4
Show member pathways
12.23 ABCA1 ANGPTL3 APOA1 APOA2 APOB APOE
5
Show member pathways
12.05 APOA1 APOA2 APOB APOE LPL
6
Show member pathways
11.65 APOA1 APOB APOE
7 11.47 APOA1 APOA2 LPL
8
Show member pathways
11.1 ABCA1 APOA1 APOB MTTP
9
Show member pathways
11.06 ABCA1 APOA1 APOA2 APOB APOE LCAT
10 10.91 APOA1 APOA2
11 10.86 APOA1 APOB
12 10.82 ABCA1 APOA1 APOA2

GO Terms for Hypolipoproteinemia

Cellular components related to Hypolipoproteinemia according to GeneCards Suite gene sharing:

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.95 ABCA1 ANGPTL3 APOE MTTP SAR1B
2 cell surface GO:0009986 9.84 ABCA1 ANGPTL3 APOA1 LPL
3 endoplasmic reticulum lumen GO:0005788 9.83 APOA1 APOA2 APOB APOE MTTP
4 early endosome GO:0005769 9.8 ANGPTL3 APOA1 APOA2 APOB APOE
5 blood microparticle GO:0072562 9.7 APOA1 APOA2 APOE
6 clathrin-coated endocytic vesicle membrane GO:0030669 9.56 APOB APOE
7 high-density lipoprotein particle GO:0034364 9.55 ABCA1 APOA1 APOA2 APOE LCAT
8 endocytic vesicle lumen GO:0071682 9.54 APOA1 APOB APOE
9 spherical high-density lipoprotein particle GO:0034366 9.51 APOA1 APOA2
10 low-density lipoprotein particle GO:0034362 9.5 APOA1 APOB APOE
11 intermediate-density lipoprotein particle GO:0034363 9.43 APOA1 APOB APOE
12 very-low-density lipoprotein particle GO:0034361 9.35 APOA1 APOA2 APOB APOE LPL
13 discoidal high-density lipoprotein particle GO:0034365 9.16 APOA1
14 chylomicron GO:0042627 9.02 APOA1 APOA2 APOB APOE LPL
15 extracellular region GO:0005576 10.08 ANGPTL3 APOA1 APOA2 APOB APOE LCAT
16 extracellular space GO:0005615 10.04 ANGPTL3 APOA1 APOA2 APOB APOE LCAT

Biological processes related to Hypolipoproteinemia according to GeneCards Suite gene sharing:

(show top 50) (show all 57)
id Name GO ID Score Top Affiliating Genes
1 steroid metabolic process GO:0008202 9.98 ABCA1 APOA1 APOB APOE LCAT
2 cellular protein metabolic process GO:0044267 9.97 APOA1 APOA2 APOB APOE
3 lipid transport GO:0006869 9.97 APOA1 APOA2 APOB APOE LPA MTTP
4 retinoid metabolic process GO:0001523 9.95 APOA1 APOA2 APOB APOE LPL
5 phospholipid metabolic process GO:0006644 9.93 ANGPTL3 APOA1 LCAT LPL
6 receptor-mediated endocytosis GO:0006898 9.9 APOA1 APOB APOE
7 triglyceride metabolic process GO:0006641 9.89 APOA2 APOE LPL MTTP
8 triglyceride homeostasis GO:0070328 9.88 ANGPTL3 APOA1 APOE LPL
9 cholesterol transport GO:0030301 9.88 ABCA1 APOA1 APOA2 APOB LCAT
10 regulation of lipid metabolic process GO:0019216 9.87 ABCA1 APOA1 APOA2
11 triglyceride catabolic process GO:0019433 9.87 APOA1 APOB APOE LPL
12 high-density lipoprotein particle remodeling GO:0034375 9.86 APOA1 APOA2 APOE LCAT
13 cholesterol efflux GO:0033344 9.85 ABCA1 APOA1 APOA2 APOB APOE
14 high-density lipoprotein particle assembly GO:0034380 9.84 ABCA1 APOA1 APOA2 APOE
15 phospholipid transport GO:0015914 9.83 ABCA1 APOA1 MTTP
16 low-density lipoprotein particle remodeling GO:0034374 9.83 APOA2 APOB APOE LPA
17 reverse cholesterol transport GO:0043691 9.83 ABCA1 APOA1 APOA2 APOE LCAT
18 phosphatidylcholine biosynthetic process GO:0006656 9.82 APOA1 APOA2 LCAT
19 artery morphogenesis GO:0048844 9.81 ANGPTL3 APOB APOE
20 phospholipid efflux GO:0033700 9.81 ABCA1 APOA1 APOA2 APOE
21 phospholipid homeostasis GO:0055091 9.8 ABCA1 ANGPTL3 APOA1
22 cholesterol metabolic process GO:0008203 9.8 ABCA1 ANGPTL3 APOA1 APOA2 APOB APOE
23 positive regulation of cholesterol esterification GO:0010873 9.79 APOA1 APOA2 APOE
24 high-density lipoprotein particle clearance GO:0034384 9.79 APOA1 APOA2 APOE
25 regulation of Cdc42 protein signal transduction GO:0032489 9.78 ABCA1 APOA1 APOE
26 very-low-density lipoprotein particle remodeling GO:0034372 9.77 APOE LCAT LPL
27 chylomicron assembly GO:0034378 9.77 APOA1 APOA2 APOB APOE MTTP
28 lipid homeostasis GO:0055088 9.72 ANGPTL3 APOE
29 lipid storage GO:0019915 9.72 ANGPTL3 APOA1
30 lipoprotein transport GO:0042953 9.72 APOB MTTP
31 chylomicron remodeling GO:0034371 9.72 APOA1 APOA2 APOB APOE LPL
32 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.71 APOB LPL
33 phospholipid catabolic process GO:0009395 9.71 ANGPTL3 APOA2
34 positive regulation of cholesterol efflux GO:0010875 9.71 ABCA1 APOE
35 protein lipidation GO:0006497 9.71 ABCA1 MTTP
36 regulation of lipoprotein lipase activity GO:0051004 9.7 ANGPTL3 LPL
37 very-low-density lipoprotein particle assembly GO:0034379 9.7 APOB MTTP
38 chylomicron remnant clearance GO:0034382 9.69 APOB APOE
39 neuron projection regeneration GO:0031102 9.69 APOA1 APOE
40 positive regulation of cholesterol storage GO:0010886 9.69 APOB LPL
41 positive regulation of lipid catabolic process GO:0050996 9.68 ANGPTL3 APOA2
42 negative regulation of cytokine secretion involved in immune response GO:0002740 9.68 APOA1 APOA2
43 peptidyl-methionine modification GO:0018206 9.68 APOA1 APOA2
44 very-low-density lipoprotein particle clearance GO:0034447 9.68 APOB APOE
45 regulation of intestinal cholesterol absorption GO:0030300 9.67 APOA1 APOA2
46 negative regulation of lipase activity GO:0060192 9.67 APOA1 APOA2
47 lipoprotein catabolic process GO:0042159 9.66 APOB APOE
48 protein oxidation GO:0018158 9.65 APOA1 APOA2
49 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.65 APOA1 APOA2
50 regulation of high-density lipoprotein particle assembly GO:0090107 9.64 ABCA1 LCAT

Molecular functions related to Hypolipoproteinemia according to GeneCards Suite gene sharing:

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.85 APOA1 APOA2 APOB APOE MTTP
2 heparin binding GO:0008201 9.8 ANGPTL3 APOB APOE LPA LPL
3 cholesterol binding GO:0015485 9.67 ABCA1 APOA1 APOA2 APOE
4 phospholipid binding GO:0005543 9.65 ABCA1 APOA1 APOA2 APOB APOE
5 phospholipid transporter activity GO:0005548 9.61 ABCA1 APOA1 MTTP
6 phosphatidylcholine binding GO:0031210 9.57 APOA1 APOA2
7 low-density lipoprotein particle receptor binding GO:0050750 9.56 APOB APOE
8 high-density lipoprotein particle binding GO:0008035 9.55 APOA1 APOA2
9 lipase inhibitor activity GO:0055102 9.54 APOA1 APOA2
10 lipoprotein particle binding GO:0071813 9.52 APOA1 APOE
11 apolipoprotein A-I binding GO:0034186 9.51 ABCA1 LCAT
12 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.5 APOA1 APOA2 APOE
13 high-density lipoprotein particle receptor binding GO:0070653 9.49 APOA1 APOA2
14 apolipoprotein receptor binding GO:0034190 9.48 APOA1 APOA2
15 apolipoprotein binding GO:0034185 9.46 ABCA1 LPA LPL MTTP
16 lipid transporter activity GO:0005319 9.35 APOA1 APOA2 APOB APOE MTTP
17 cholesterol transporter activity GO:0017127 9.02 ABCA1 APOA1 APOA2 APOB APOE

Sources for Hypolipoproteinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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