ABL
MCID: ABT001
MIFTS: 73

Abetalipoproteinemia (ABL) malady

Neuronal diseases, Eye diseases, Gastrointestinal diseases, Metabolic diseases, Endocrine diseases, Blood diseases, Genetic diseases categories

Summaries for Abetalipoproteinemia

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 3CDC, 63Wikipedia, 46OMIM, 32MalaCards
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Genetics Home Reference:21 Abetalipoproteinemia is an inherited disorder that affects the absorption of dietary fats, cholesterol, and fat-soluble vitamins. People affected by this disorder are not able to make certain lipoproteins, which are particles that carry fats and fat-like substances (such as cholesterol) in the blood. Specifically, people with abetalipoproteinemia are missing a group of lipoproteins called beta-lipoproteins. An inability to make beta-lipoproteins causes severely reduced absorption (malabsorption) of dietary fats and fat-soluble vitamins (vitamins A, D, E, and K) from the digestive tract into the bloodstream. Sufficient levels of fats, cholesterol, and vitamins are necessary for normal growth, development, and maintenance of the body's cells and tissues, particularly nerve cells and tissues in the eye.

MalaCards: Abetalipoproteinemia, also known as familial hypobetalipoproteinemia, is related to hypobetalipoproteinemia and fatty liver disease, and has symptoms including areflexia/hyporeflexia, movement disorder and visual loss/blindness/amblyopia. An important gene associated with Abetalipoproteinemia is MTTP (microsomal triglyceride transfer protein), and among its related pathways are LDL-mediated lipid transport and Acyl chain remodeling of CL. The compounds xbai and alpha tocopherol have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and skeletal muscle, and related mouse phenotypes are cardiovascular system and liver/biliary system.

Disease Ontology:8 A hypolipoprotenemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has physical basis in an autosomal recessive disorder of lipid metabolism caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (triglycerides; cholesterol esters; phospholipids) and is required in the secretion of beta-lipoproteins (low density lipoproteins or ldl).

NIH Rare Diseases:42 Abetalipoproteinemia is a disease in which a person is unable to fully absorb dietary fats, cholesterol and fat-soluble vitamins. signs and symptoms appear in the first few months of life and can include failure to gain weight and grow at the expected rate (failure to thrive); diarrhea; acanthocytosis; and stool abnormalities. other features of this disorder may develop later in childhood and often impair the function of the nervous system, potentially causing poor muscle coordination, ataxia, and an eye disorder called retinitis pigmentosa. abetalipoproteinemia is usually caused by mutations in the mttp gene and is inherited in an autosomal recessive manner. treatment may include dietary modification and various dietary supplements. last updated: 3/26/2012

CDC:3 The ABLES program is a state-based surveillance program of laboratory-reported adult blood lead levels. The program objective is to build state capacity to initiate, expand, or improve adult blood lead surveillance programs which can accurately measure trends in adult blood lead levels and which can effectively intervene to prevent lead over-exposures. More information about the ABLES program.

Wikipedia:63 Abetalipoproteinemia, or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder that... more...

Description from OMIM:46 200100

Aliases & Classifications for Abetalipoproteinemia

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 56SNOMED-CT, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
abetalipoproteinemia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

abetalipoproteinemia 8 9 42 20 21 46 10 44 48 60
familial hypobetalipoproteinemia 8 42 21 60
abetalipoproteinemia neuropathy 42 21 60
microsomal triglyceride transfer protein deficiency disease 8 21
betalipoprotein deficiency disease 42 21
apolipoprotein b deficiency 42 21
congenital betalipoprotein deficiency syndrome 21
homozygous familial hypobetalipoproteinemia 48
hypobetalipoproteinemia, familial 42
bassen-kornzweig syndrome 21
bassen kornzweig syndrome 42
bassen-kornzweig disease 48
hypobetalipoproteinemias 60
hypobetalipoproteinemia 21
acanthocytosis 21
fhbl 21
abl 42


External Ids:

Disease Ontology8 DOID:1386
MeSH34 D000012
OMIM46 200100
NCIt39 C84525
MESH via Orphanet35 D000012
ICD10 via Orphanet26 E78.6
SNOMED-CT via Orphanet57 190787008
UMLS via Orphanet61 C0000744

Related Diseases for Abetalipoproteinemia

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17GeneCards, 18GeneDecks
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Diseases related to Abetalipoproteinemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 378)
idRelated DiseaseScoreTop Affiliating Genes
1hypobetalipoproteinemia30.6PCSK9, ANGPTL3, MTTP, APOB, APOE, APOA1
2fatty liver disease30.4MTTP
3lung cancer30.3PCSK9
4dilated cardiomyopathy30.1CPT2, PLA2G7, LPL, HADHA
5chylomicron retention disease30.1APOB, SAR1B
6hypothyroidism30.0CETP, APOB
7diabetes mellitus30.0LCAT, APOA1, APOE, APOA2, APOC2, APOB
8atherosclerosis30.0CETP, APOE, APOA2, APOC2, APOB, LPL
9alzheimer's disease30.0CETP, TTPA, P4HB, APOB, APOC2, APOE
10ataxia with vitamin e deficiency29.8APOB, TTPA
11familial hypercholesterolemia29.8CETP, PCSK9, APOB
12obesity29.8LCAT, APOA1, APOE, APOA2, APOB, LPL
13steatorrhea29.8MTTP
14alcohol abuse29.6LCAT
15hyperthyroidism29.6APOA2
16hepatitis c29.6MTTP, LPL
17cholestasis29.6LCAT, HADHA, CETP
18peripheral vascular disease29.6CETP, APOB, APOA1
19pancreatitis29.6APOC2, LPL
20dementia29.6CETP, LPL, APOE
21hypertension29.6LPL, APOB, APOE, APOA1
22multiple sclerosis29.6APOC2, APOE, APOA1
23amyloidosis29.6LPL, APOA2, APOE, APOA1
24cadasil29.6APOE, APOB, LPL, PLA2G7, CETP
25hepatoblastoma29.6APOB, APOA2, APOA1
26chronic kidney failure29.6LCAT, APOA1, APOC2, APOB, LPL, PLA2G7
27myocardial infarction29.6LCAT, APOA1, APOE, APOA2, APOB, PLA2G7
28vascular disease29.6LCAT, APOA1, APOE, APOC2, APOB, LPL
29leukemia11.1
30chorea-acanthocytosis10.9
31myeloid leukemia10.9
32chronic myeloid leukemia10.9
33acute leukemia10.7
34lymphoblastic leukemia10.6
35neuroacanthocytosis10.4
36adult syndrome10.3
37central nervous system disease10.3
38nervous system disease10.3
39breast cancer10.3
40mcleod syndrome10.3
41liver disease10.3
42levine-critchley syndrome10.3
43thyroiditis10.3
44acute myeloid leukemia10.2
45prostatitis10.2
46neurologic diseases10.2
47chronic myeloproliferative disease10.2
48hepatitis10.2
49neuropathy10.2
50thrombocytosis10.2

Graphical network of the top 20 diseases related to Abetalipoproteinemia:



Diseases related to abetalipoproteinemia

Clinical Features for Abetalipoproteinemia

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46OMIM, 48Orphanet
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Clinical features from OMIM:

200100

Clinical synopsis from OMIM:

200100

Symptoms:

48 (show all 8)
  • areflexia/hyporeflexia
  • movement disorder
  • visual loss/blindness/amblyopia
  • retinitis pigmentosa/retinal pigmentary changes
  • malabsorption/chronic diarrhea/steatorrhea
  • hypotonia
  • ataxia/incoordination/trouble of the equilibrium
  • autosomal recessive inheritance

Drugs & Therapeutics for Abetalipoproteinemia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Abetalipoproteinemia

Drug clinical trials:

Search ClinicalTrials for Abetalipoproteinemia

Search NIH Clinical Center for Abetalipoproteinemia

Search CenterWatch for Abetalipoproteinemia

Genetic Tests for Abetalipoproteinemia

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20GeneTests
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Genetic tests related to Abetalipoproteinemia:

id Genetic test Affiliating Genes
1 Abetalipoproteinemia20 MTTP

Anatomical Context for Abetalipoproteinemia

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32MalaCards
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MalaCards organs/tissues related to Abetalipoproteinemia:

32
Eye, Liver, Skeletal muscle, Brain, Spinal cord

Animal Models for Abetalipoproteinemia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Abetalipoproteinemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.9MTTP, LPL, HADHA, HADHB, APOB, APOE
2MP:00053708.4LCAT, PCSK9, ANGPTL3, MTTP, LPL, HADHA
3MP:00053767.5APOA2, APOE, APOA1, SAR1B, LCAT, APOB

Publications for Abetalipoproteinemia

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50PubMed
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Articles related to Abetalipoproteinemia:

(show top 50)    (show all 157)
idTitleAuthorsYear
1
Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene. (23556456)
2013
2
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia. (22236406)
2012
3
A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP). (21394827)
2011
4
Red cells in abetalipoproteinemia. (21534356)
2011
5
Abetalipoproteinemia in an infant with severe clinical phenotype and a novel mutation. (20402070)
2010
6
Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases. (19066957)
2009
7
The c.419-420insA in the MTP gene is associated with abetalipoproteinemia among French-Canadians. (14741197)
2004
8
Abetalipoproteinemia: a case report. (11592517)
2001
9
Clinical quiz. Abetalipoproteinemia. (11345181)
2001
10
Knockout of the abetalipoproteinemia gene in mice: reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes. (9671739)
1998
11
Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. (8533758)
1995
12
The abetalipoproteinemia gene is a member of the vitellogenin family and encodes an alpha-helical domain. (7664034)
1994
13
Microsomal triglyceride transfer protein, the abetalipoproteinemia gene product, mediates the secretion of apolipoprotein B-containing lipoproteins from heterologous cells. (8071315)
1994
14
Abetalipoproteinemia. New insights into lipoprotein assembly and vitamin E metabolism from a rare genetic disease. (8340987)
1993
15
Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein. (8111381)
1993
16
Characterization of serum lipoproteins from Suncus: a candidate animal model for abetalipoproteinemia. (8370676)
1993
17
Genetic analysis of a Japanese family with normotriglyceridemic abetalipoproteinemia indicates a lack of linkage to the apolipoprotein B gene. (1731805)
1992
18
Abnormal platelet functions in a patient with abetalipoproteinemia. (1904656)
1991
19
Abetalipoproteinemia with an ApoB-100-lipoprotein(a) glycoprotein complex in plasma. Indication for an assembly defect. (2295628)
1990
20
Molecular species of cholesteryl esters formed in abetalipoproteinemia: effect of apoprotein B-containing lipoproteins. (2380639)
1990
21
Hepatic peroxisomal abnormalities in abetalipoproteinemia. (2753336)
1989
22
Molecular species of phosphatidylcholine in abetalipoproteinemia: effect of lecithin:cholesterol acyltransferase and lysolecithin acyltransferase. (2621418)
1989
23
Increased urinary mevalonic acid excretion in patients with abetalipoproteinemia and homozygous hypobetalipoproteinemia. (2920062)
1989
24
Angioid streaks associated with abetalipoproteinemia. (2787138)
1989
25
Neutral lipid transfer activities in the plasma of patients with abetalipoproteinemia. (3377877)
1988
26
Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia. (2903181)
1988
27
Substrate specificity of plasma lecithin: cholesterol acyltransferase in abetalipoproteinemia. (3421144)
1988
28
Abetalipoproteinemia associated with hepatic and atypical neurological disorders. (3694376)
1987
29
Absence of intestinal synthesis of apolipoprotein B-48 in two cases of abetalipoproteinemia. (3653634)
1987
30
Electrophysiologic features of abetalipoproteinemia: functional consequences of vitamin E deficiency. (3010179)
1986
31
Analysis of the apolipoprotein B gene and messenger ribonucleic acid in abetalipoproteinemia. (3782476)
1986
32
Platelet function in a case with abetalipoproteinemia. (4084361)
1985
33
Somatosensory evoked potentials in abetalipoproteinemia. (2578350)
1985
34
Morphologic features of the liver in abetalipoproteinemia. (6500514)
1984
35
Corticosteroid production in abetalipoproteinemia: evidence for an impaired response ACTH. (6283000)
1982
36
Effect of large oral doses of vitamin E on the neurological sequelae of patients with abetalipoproteinemia. (6959555)
1982
37
Abetalipoproteinemia. Report of two cases and review of therapy. (7425890)
1980
38
Is essential fatty acid deficiency part of the syndrome of abetalipoproteinemia? (7422151)
1980
39
Abetalipoproteinemia presenting as severe vitamin K deficiency. (7355018)
1980
40
Impaired cortisol secretion in abetalipoproteinemia. (6246140)
1980
41
Abetalipoproteinemia and hypobetalipoproteinemia: what is the primary defect? (735924)
1978
42
Regulation of cholesterol synthesis by low density lipoprotein in isolated human lymphocytes. Comparison of cells from normal subjects and patients with homozygous familial hypercholesterolemia and abetalipoproteinemia. (194011)
1977
43
Abetalipoproteinemia (Bassen-Kornzweig syndrome). Muscle involvement. (855647)
1977
44
Abetalipoproteinemia: rarity and relevance. (5549807)
1971
45
On the protein defect in abetalipoproteinemia. (5549803)
1971
46
Abetalipoproteinemia in acrodermatitis enteropathica. (4995946)
1971
47
Fat transport in abetalipoproteinemia. The effects of repeated infusions of beta-lipoprotein-rich plasma. (4976946)
1969
48
Phospholipid and phospholipid fatty acid and aldehyde composition of red cells of patients with abetalipoproteinemia (acanthocytosis). Evidence for essential fatty acid deficiency in man. (5651363)
1968
49
Peroxidative hemolysis of red blood cells from patients with abetalipoproteinemia (acanthocytosis). (6023771)
1967
50
The lipoproteins and lipid transport in abetalipoproteinemia. (4957009)
1966

Genetic Variations for Abetalipoproteinemia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Abetalipoproteinemia:

62
id Symbol AA change Variation ID SNP ID
1MTTPp.Arg540HisVAR_010642
2MTTPp.Ser590IleVAR_010643
3MTTPp.Gly746GluVAR_010644
4MTTPp.Asn780TyrVAR_014019

Expression for genes affiliated with Abetalipoproteinemia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Abetalipoproteinemia

Search GEO for disease gene expression data for Abetalipoproteinemia.

Pathways for genes affiliated with Abetalipoproteinemia

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53Reactome, 29KEGG, 12EMD Millipore, 37NCBI BioSystems Database, 49PharmGKB
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Pathways related to Abetalipoproteinemia according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1CETP, APOB
210.1HADHB, HADHA
3
Hide members
10.1HADHA, HADHB
410.1APOB, APOA1
510.0APOB, APOA1, MTTP
6
Hide members
9.9APOB, APOE, APOA1
79.9APOE, APOA1, APOB
89.8APOA1, APOA2, APOB
9
Hide members
9.7CPT2, LPL, HADHB, HADHA
109.6APOA1, APOA2, LPL, CPT2
11
Hide members
9.4APOA2, HADHB, HADHA, CPT2, APOA1
129.1APOE, APOA2, APOC2, LPL, APOB, APOA1
13
Hide members
9.1APOA1, APOA2, APOE, APOC2, APOB, LPL
14
Hide members
8.6MTTP, APOC2, CETP, LCAT, APOA1, APOA2
15
Hide members
8.3MTTP, LPL, APOB, APOC2, APOA2, APOE
16
Hide members
7.9MTTP, APOA1, LPL, SAR1B, P4HB, HADHB

Compounds for genes affiliated with Abetalipoproteinemia

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44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Abetalipoproteinemia according to GeneCards/GeneDecks:

(show top 50)    (show all 123)
idCompoundScoreTop Affiliating Genes
1xbai4410.4LPL, APOE
2alpha tocopherol4410.4LPL, TTPA, LCAT
3estrogen4410.4MTTP, CETP, LCAT
4torcetrapib4410.2CETP, APOA1, LCAT
5psyllium4410.2CETP, LCAT, APOB
6sodium oleate4410.2CETP, LPL, APOA1
7lathosterol44 2411.1APOB, CETP, MTTP, APOE
8trioleoylglycerol4410.1APOA1, LPL, APOC2
9tocopherol4410.0APOA1, APOB, LPL, TTPA
10palmitate4410.0CPT2, CETP, HADHA, HADHB, LCAT
11ezetimibe44 1111.0APOB, APOA1, MTTP, CETP
12p-opc4410.0APOA2, CETP, LCAT, APOA1
13niacin44 1110.9MTTP, APOA1, APOB, LPL, CETP
14retinyl palmitate44 2410.9APOA1, LCAT, APOB, APOE, LPL
15dimyristoylphosphatidylcholine449.9APOA1, APOE, LCAT, APOA2
16oleic acid44 28 11 2412.9MTTP, PLA2G7, CETP, APOB, LPL
17pravastatin44 49 28 11 2413.8LCAT, APOA1, CETP, APOB, APOE
18acyl-coa449.8HADHA, HADHB, CPT2, MTTP, LPL
19linoleic acid44 28 2411.8LCAT, CPT2, MTTP, LPL, CETP
20probucol44 1110.8LCAT, APOA1, APOE, APOB, CETP, LPL
21fluvastatin44 49 28 1112.7CETP, LPL, APOA1, PLA2G7, APOE, APOB
22lovastatin44 49 59 28 1113.6CETP, APOE, LPL, APOB, APOA1
23fenofibrate44 49 1111.6APOA2, CETP, APOA1, APOB, PLA2G7, LPL
24carnitine449.6CPT2, MTTP, LPL, HADHB, APOB, APOA1
25aspirin44 49 28 2412.6APOE, APOA1, APOB, HADHA, PLA2G7, CETP
26simvastatin44 49 59 28 11 2414.6CETP, MTTP, LPL, APOB, APOE, APOA1
27mspi449.5APOB, CETP, APOA1, APOA2
28sodium dodecylsulfate449.5LCAT, APOE, APOC2, LPL, CETP
29intralipid449.5APOA2, APOA1, LPL, APOE, APOB, CETP
30bezafibrate44 28 1111.5APOA2, LCAT, CETP, APOB, APOE, LPL
31atorvastatin44 49 28 11 2413.4LCAT, APOB, LPL, APOE, CETP, PLA2G7
32homocysteine44 2410.4APOA1, CETP, APOB, APOC2, APOE
33gemfibrozil44 28 1111.4CETP, APOA1, APOE, APOA2, APOC2, APOB
34sterol449.3LCAT, APOA1, CETP, PCSK9, MTTP, HADHB
35guanidine44 11 2411.3LCAT, P4HB, APOE, APOA1
36cholesterol ester449.2LCAT, APOA1, APOE, APOA2, APOB, LPL
37vitamin a44 11 2411.2CETP, LCAT, APOA1, APOE, APOC2, APOB
38lactate449.2HADHB, APOB, LPL, P4HB, CPT2, APOA1
39creatinine449.1P4HB, HADHA, APOE, APOA1, APOC2, APOB
40heparin44 28 11 2412.0APOB, LPL, LCAT, APOE, APOA2, APOC2
41methionine448.9APOC2, APOA2, MTTP, P4HB, LGALS1, LCAT
42glutamine448.9CETP, LGALS1, TTPA, APOB, HADHA, LPL
43phosphatidylcholine448.8CETP, PLA2G7, P4HB, MTTP, LPL, APOB
44phospholipid448.6APOA1, LCAT, APOE, APOA2, APOC2, CETP
45triacylglycerol448.6CETP, PLA2G7, P4HB, MTTP, LPL, APOB
46fatty acid448.4LGALS1, CETP, CPT2, HADHB, PLA2G7, MTTP
47glucose448.2MTTP, APOA2, APOA1, APOC2, APOB, CPT2
48cholesterol44 28 11 2410.9TTPA, PCSK9, P4HB, ANGPTL3, MTTP, LPL
49serine447.9APOE, APOA2, APOC2, LGALS1, APOB, HADHA
50lipid446.8CPT2, LCAT, CETP, LGALS1, PLA2G7, TTPA

GO Terms for genes affiliated with Abetalipoproteinemia

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16Gene Ontology
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Cellular components related to Abetalipoproteinemia according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1mitochondrial fatty acid beta-oxidation multienzyme complexGO:01650710.1HADHB, HADHA
2intermediate-density lipoprotein particleGO:03436310.0APOB, APOE, APOC2
3endocytic vesicle lumenGO:07168210.0APOE, APOB, APOA1
4low-density lipoprotein particleGO:0343629.9APOE, APOC2, PLA2G7, APOB
5spherical high-density lipoprotein particleGO:0343669.9APOC2, APOA1, APOA2
6late endosomeGO:0057709.8APOE, TTPA, PCSK9
7extrinsic to external side of plasma membraneGO:0312329.7PCSK9, APOE
8high-density lipoprotein particleGO:0343649.7LCAT, APOE, APOA2, CETP, APOA1
9chylomicronGO:0426279.6APOE, APOA2, APOC2, APOB, LPL
10endoplasmic reticulum lumenGO:0057889.5APOA1, P4HB, MTTP, APOB, APOA2
11very-low-density lipoprotein particleGO:0343619.4APOA1, APOC2, APOB, LPL, APOA2, APOE
12early endosomeGO:0057699.3APOA2, APOA1, PCSK9, APOB, APOE, APOC2
13cell surfaceGO:0099869.0LGALS1, LPL, ANGPTL3, P4HB, PCSK9
14extracellular regionGO:0055768.5LPL, APOB, PLA2G7, P4HB, APOA2, APOC2
15extracellular spaceGO:0056158.5PCSK9, LCAT, CETP, ANGPTL3, LPL, APOB

Biological processes related to Abetalipoproteinemia according to GeneCards/GeneDecks:

(show all 46)
idNameGO IDScoreTop Affiliating Genes
1lipoprotein catabolic processGO:04215910.4APOB, APOE
2chylomicron remodelingGO:03437110.4APOC2, LPL
3regulation of Cdc42 protein signal transductionGO:03248910.3APOA1, APOE
4negative regulation of lipase activityGO:06019210.3APOA1, APOA2
5lipoprotein transportGO:04295310.3APOB, APOC2, MTTP
6negative regulation of very-low-density lipoprotein particle remodelingGO:01090310.3APOA2, APOA1
7peripheral nervous system axon regenerationGO:01401210.3APOE, APOA1
8regulation of intestinal cholesterol absorptionGO:03030010.3APOA1, APOA2
9triglyceride-rich lipoprotein particle remodelingGO:03437010.2APOA2, APOC2
10fatty acid beta-oxidationGO:00663510.2HADHB, HADHA, CPT2
11artery morphogenesisGO:04884410.2APOB, ANGPTL3, APOE
12phospholipid homeostasisGO:05509110.2APOA1, ANGPTL3, CETP
13negative regulation of cholesterol transportGO:03237510.2APOA2, APOC2
14positive regulation of lipid catabolic processGO:05099610.2APOA2, ANGPTL3
15negative regulation of cytokine secretion involved in immune responseGO:00274010.2APOA2, APOA1
16phosphatidylcholine biosynthetic processGO:00665610.1APOA1, LCAT, APOA2
17cholesterol transportGO:03030110.1LCAT, APOA1, CETP, APOB
18protein oxidationGO:01815810.1APOA1, APOA2
19lipoprotein biosynthetic processGO:04215810.1APOB, APOE, APOA1, LCAT
20high-density lipoprotein particle assemblyGO:03438010.1APOE, APOA2, APOA1
21positive regulation of cholesterol esterificationGO:01087310.1APOA1, APOE, APOA2
22positive regulation of macrophage derived foam cell differentiationGO:01074410.1APOB, LPL
23cardiolipin acyl-chain remodelingGO:03596510.1HADHA, HADHB
24peptidyl-methionine modificationGO:01820610.1APOA1, APOA2
25chylomicron remnant clearanceGO:03438210.1APOE, APOC2
26receptor-mediated endocytosisGO:00689810.1CETP, APOB, APOE
27positive regulation of cholesterol storageGO:01088610.0APOB, LPL
28high-density lipoprotein particle clearanceGO:0343849.9APOC2, APOE, APOA1, APOA2
29phospholipid effluxGO:0337009.9APOA1, APOA2, APOC2, APOE
30very-low-density lipoprotein particle remodelingGO:0343729.9LCAT, APOE, APOC2, LPL, CETP
31low-density lipoprotein particle remodelingGO:0343749.9CETP, PLA2G7, APOA2, APOE, APOB
32high-density lipoprotein particle remodelingGO:0343759.8APOE, LCAT, APOA1, APOA2, CETP
33triglyceride homeostasisGO:0703289.8APOA1, CETP, ANGPTL3, LPL, APOC2
34cellular lipid metabolic processGO:0442559.8CPT2, APOA1, HADHA, HADHB, APOA2
35cholesterol effluxGO:0333449.7APOB, APOC2, APOA2, APOE, APOA1
36phospholipid catabolic processGO:0093959.6ANGPTL3, APOA2
37phospholipid metabolic processGO:0066449.6ANGPTL3, PCSK9, LPL, HADHA, HADHB, LCAT
38reverse cholesterol transportGO:0436919.6APOC2, CETP, LCAT, APOA1, APOE, APOA2
39triglyceride metabolic processGO:0066419.6PCSK9, MTTP, CETP, APOE, APOA2, LPL
40retinoid metabolic processGO:0015239.6LPL, APOC2, APOA2, APOE, APOA1, APOB
41phototransduction, visible lightGO:0076039.5APOB, APOA1, APOE, APOA2, APOC2, LPL
42response to drugGO:0424939.3LGALS1, LPL, HADHA, APOC2, APOA1, APOA2
43cholesterol metabolic processGO:0082039.1APOB, ANGPTL3, PCSK9, CETP, APOA2, APOA1
44cholesterol homeostasisGO:0426328.7PCSK9, ANGPTL3, MTTP, APOB, APOC2, APOA2
45lipoprotein metabolic processGO:0421578.5CETP, PCSK9, P4HB, MTTP, LPL, APOB
46small molecule metabolic processGO:0442817.9HADHB, APOB, LPL, APOC2, APOA2, APOE

Molecular functions related to Abetalipoproteinemia according to GeneCards/GeneDecks:

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1long-chain-3-hydroxyacyl-CoA dehydrogenase activityGO:01650910.4HADHB, HADHA
2triglyceride bindingGO:01712910.3LPL, CETP
3long-chain-enoyl-CoA hydratase activityGO:01650810.3HADHB, HADHA
4enoyl-CoA hydratase activityGO:00430010.2HADHA, HADHB
5high-density lipoprotein particle receptor bindingGO:07065310.2APOA2, APOA1
6very-low-density lipoprotein particle receptor bindingGO:07032610.2APOE, PCSK9
7apolipoprotein bindingGO:03418510.1PCSK9, MTTP, LPL
8phospholipid transporter activityGO:00554810.1CETP, APOA1
9low-density lipoprotein particle receptor bindingGO:05075010.1APOB, APOE, PCSK9
103-hydroxyacyl-CoA dehydrogenase activityGO:00385710.1HADHA, HADHB
11phosphatidylcholine-sterol O-acyltransferase activator activityGO:06022810.1APOA2, APOA1, APOE
12lipase inhibitor activityGO:05510210.0APOA1, APOC2, APOA2
13cholesterol bindingGO:01548510.0CETP, APOA2, APOA1
14apolipoprotein receptor bindingGO:03419010.0PCSK9, APOA2, APOA1
15lipid transporter activityGO:00531910.0MTTP, APOE, APOA2, CETP
16high-density lipoprotein particle bindingGO:0080359.9APOA2, APOA1
17cholesterol transporter activityGO:0171279.7CETP, APOA2, APOB, APOA1, APOE
18phosphatidylcholine bindingGO:0312109.7CETP, APOA2
19lipid bindingGO:0082899.7CETP, MTTP, APOC2, APOE, APOA2
20phospholipid bindingGO:0055439.7APOA1, APOB, APOE, APOA2, PLA2G7
21protein heterodimerization activityGO:0469829.5APOE, APOA2, APOB, MTTP, P4HB
22protein bindingGO:0055157.7LGALS1, CD1A, P4HB, PCSK9, LPL, HADHA

Products for genes affiliated with Abetalipoproteinemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Abetalipoproteinemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet