ABL
MCID: ABT001
MIFTS: 64

Abetalipoproteinemia (ABL) malady

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

Summaries for Abetalipoproteinemia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 3CDC, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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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 autosomal recessive inheritance, ataxia/incoordination/trouble of the equilibrium and hypotonia. An important gene associated with Abetalipoproteinemia is MTTP (microsomal triglyceride transfer protein), and among its related pathways are LDL-mediated lipid transport and Scavenging by Class B Receptors. The compounds xbai and alpha tocopherol have been mentioned in the context of this disorder. Affiliated tissues include liver, spinal cord and brain, 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:43 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:64 Abetalipoproteinemia, or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder that... more...

Description from OMIM:47 200100

Aliases & Classifications for Abetalipoproteinemia

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 57SNOMED-CT, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Neuronal, Eye, Gastrointestinal, Metabolic, Endocrine, Blood


Characteristics (Orphanet epidemiological data):

49
abetalipoproteinemia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

abetalipoproteinemia 8 9 43 20 21 47 10 45 49 61
familial hypobetalipoproteinemia 8 43 21 61
abetalipoproteinemia neuropathy 43 21 61
microsomal triglyceride transfer protein deficiency disease 8 21
betalipoprotein deficiency disease 43 21
apolipoprotein b deficiency 43 21
congenital betalipoprotein deficiency syndrome 21
homozygous familial hypobetalipoproteinemia 49
hypobetalipoproteinemia, familial 43
bassen-kornzweig syndrome 21
bassen kornzweig syndrome 43
bassen-kornzweig disease 49
hypobetalipoproteinemias 61
hypobetalipoproteinemia 21
acanthocytosis 21
fhbl 21
abl 43


External Ids:

Disease Ontology8 DOID:1386
MeSH35 D000012
OMIM47 200100
NCIt40 C84525
MESH via Orphanet36 D000012
ICD10 via Orphanet26 E78.6
SNOMED-CT via Orphanet58 190787008
UMLS via Orphanet62 C0000744

Related Diseases for Abetalipoproteinemia

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 349)
idRelated DiseaseScoreTop Affiliating Genes
1hypobetalipoproteinemia30.6LCAT, APOE, APOB, SAR1B, MTTP, ANGPTL3
2fatty liver disease30.4MTTP
3hepatitis c30.1LPL, MTTP
4insulin resistance30.0PLA2G7, MTTP, CPT2, APOB, APOA1, LCAT
5atherosclerosis30.0APOA1, LCAT, MTTP, CETP, LPL, APOE
6chylomicron retention disease29.9SAR1B, APOB
7familial hypercholesterolemia29.9PCSK9, CETP, APOB
8steatorrhea29.9MTTP
9hypercholesterolemia29.8LCAT, CETP, APOA1, APOE, APOA2, APOC2
10alcohol abuse29.7LCAT
11peripheral vascular disease29.7CETP, APOB, APOA1
12pancreatitis, chronic29.7LPL, APOB, APOC2
13amyloidosis29.7APOA1, APOA2, APOE, LPL
14cadasil29.7CETP, APOE, PLA2G7, LPL, APOB
15alzheimer's disease29.6P4HB, CETP, TTPA, APOC2, APOE, APOB
16vascular disease29.6APOA1, CETP, APOB, LPL, LCAT, APOE
17chorea-acanthocytosis11.0
18chorea10.9
19chronic myeloid leukemia10.9
20acute leukemia10.7
21t-cell leukemia10.7
22leukemia, t-cell, chronic10.6
23myeloproliferative disorder10.5
24leukemia, b-cell, chronic10.4
25adult syndrome10.3
26mcleod syndrome10.3
27levine-critchley syndrome10.3
28acanthocytosis10.3
29acute myeloid leukemia10.3
30nguyen syndrome10.2
31familial hypobetalipoproteinemia 110.2
32acute t cell leukemia10.2
33thrombocytosis10.2
34angioid streaks10.2
35rickets10.2
36mental retardation hypocupremia hypobetalipoproteinemia10.2
37temporal lobe epilepsy10.2
38harp syndrome10.2
39lymphoid leukemia10.1
40acne10.1
41acute lymphocytic leukemia10.1
42chronic myelomonocytic leukemia10.1
43philadelphia-negative chronic myeloid leukemia10.1
44hepatitis a10.1
45oral cancer10.1
46ataxia10.1
47hepatitis c virus10.1
48mcleod neuroacanthocytosis syndrome10.1
49mcleod syndrome with or without chronic granulomatous disease10.1
50hereditary spastic paraplegia10.1

Graphical network of the top 20 diseases related to Abetalipoproteinemia:



Diseases related to abetalipoproteinemia

Clinical Features for Abetalipoproteinemia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

200100

Clinical synopsis from OMIM:

200100

Symptoms:

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

Drugs & Therapeutics for Abetalipoproteinemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests
See all sources

Genetic tests related to Abetalipoproteinemia:

id Genetic test Affiliating Genes
1 Abetalipoproteinemia20 MTTP

Anatomical Context for Abetalipoproteinemia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Abetalipoproteinemia:

33
Liver, Spinal cord, Brain, Skeletal muscle, B cells, Fetal brain, Fetal liver

Animal Models for Abetalipoproteinemia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Abetalipoproteinemia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.9APOA1, APOE, APOB, HADHB, HADHA, LPL
2MP:00053708.4PCSK9, LCAT, APOA1, APOE, APOB, HADHB
3MP:00053767.5APOA2, APOE, APOA1, SAR1B, LCAT, APOB

Publications for Abetalipoproteinemia

Sources:
51PubMed
See all sources

Articles related to Abetalipoproteinemia:

(show top 50)    (show all 157)
idTitleAuthorsYear
1
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia. (23475612)
2013
2
Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene. (23556456)
2013
3
Chronic adrenal failure and hypergonadotropic hypogonadism in a patient with abetalipoproteinemia. (23090820)
2012
4
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia. (22236406)
2012
5
Deep brain stimulation for the treatment of tremor and ataxia associated with abetalipoproteinemia. (23440258)
2012
6
Ataxia with vitamin E deficiency and abetalipoproteinemia. (21827896)
2012
7
Red cells in abetalipoproteinemia. (21534356)
2011
8
Abetalipoproteinemia in an infant with severe clinical phenotype and a novel mutation. (20402070)
2010
9
Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases. (19066957)
2009
10
Fat-soluble vitamin deficiency in pregnancy: a case report and review of abetalipoproteinemia. (17022912)
2006
11
Autopsy case of Dubin-Johnson syndrome with pneumonia and abetalipoproteinemia-like lipid profile. (16835471)
2006
12
Abetalipoproteinemia: importance of the peripheral blood smear. (15765527)
2005
13
Endocrine function in abetalipoproteinemia: a study of a female patient of Greek origin. (15960365)
2004
14
Rickets as an unusual initial presentation of abetalipoproteinemia and hypobetalipoproteinemia. (11308051)
2001
15
Clinical quiz. Abetalipoproteinemia. (11345181)
2001
16
Pathological case of the month. Abetalipoproteinemia (Bassen-Kornzweig syndrome). (9412607)
1997
17
Abetalipoproteinemia in an Indian family. (10830000)
1996
18
Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. (8533758)
1995
19
Microsomal triglyceride transfer protein, the abetalipoproteinemia gene product, mediates the secretion of apolipoprotein B-containing lipoproteins from heterologous cells. (8071315)
1994
20
Abetalipoproteinemia presenting with congestive cardiac failure. (7896372)
1994
21
Angioid streaks associated with abetalipoproteinemia. (7749670)
1994
22
Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein. (8111381)
1993
23
Molecular species of cholesteryl esters formed in abetalipoproteinemia: effect of apoprotein B-containing lipoproteins. (2380639)
1990
24
Hepatic peroxisomal abnormalities in abetalipoproteinemia. (2753336)
1989
25
Molecular species of phosphatidylcholine in abetalipoproteinemia: effect of lecithin:cholesterol acyltransferase and lysolecithin acyltransferase. (2621418)
1989
26
Increased urinary mevalonic acid excretion in patients with abetalipoproteinemia and homozygous hypobetalipoproteinemia. (2920062)
1989
27
Angioid streaks associated with abetalipoproteinemia. (2787138)
1989
28
Neutral lipid transfer activities in the plasma of patients with abetalipoproteinemia. (3377877)
1988
29
Abetalipoproteinemia or Bassen-Kornzweig syndrome. Clinical, biochemical and electrophysiological features of two cases. (3206997)
1988
30
Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia. (2903181)
1988
31
Substrate specificity of plasma lecithin: cholesterol acyltransferase in abetalipoproteinemia. (3421144)
1988
32
Abetalipoproteinemia associated with hepatic and atypical neurological disorders. (3694376)
1987
33
Vitamin E deficiency in neuropathy of abetalipoproteinemia. (3012411)
1986
34
Electrophysiologic features of abetalipoproteinemia: functional consequences of vitamin E deficiency. (3010179)
1986
35
Platelet function in a case with abetalipoproteinemia. (4084361)
1985
36
Arrest of neuropathy and myopathy in abetalipoproteinemia with high-dose vitamin E therapy. (2981135)
1985
37
Abetalipoproteinemia. Report of an unusual patient. (6472810)
1984
38
Morphologic features of the liver in abetalipoproteinemia. (6500514)
1984
39
Cholesterol turnover and metabolism in two patients with abetalipoproteinemia. (6668452)
1983
40
Corticosteroid production in abetalipoproteinemia: evidence for an impaired response ACTH. (6283000)
1982
41
Abetalipoproteinemia. Report of two cases and review of therapy. (7425890)
1980
42
Abetalipoproteinemia and hypobetalipoproteinemia: what is the primary defect? (735924)
1978
43
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
44
The genetic relationship of abetalipoproteinemia and hypobetalipoproteinemia: a report of the occurence of both diseases within the same family. (164511)
1975
45
A study of the abnormal lipoproteins in abetalipoproteinemia. (11344558)
1974
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

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Abetalipoproteinemia:

63
id Symbol AA change Variation SNP ID
1MTTPp.Arg540HisVAR_010642
2MTTPp.Ser590IleVAR_010643
3MTTPp.Gly746GluVAR_010644
4MTTPp.Asn780TyrVAR_014019

Expression for genes affiliated with Abetalipoproteinemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 30KEGG, 12EMD Millipore, 38NCBI BioSystems Database, 50PharmGKB
See all sources

Pathways related to Abetalipoproteinemia according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1CETP, APOB
210.1APOA1, APOB
310.1HADHA, HADHB
4
Hide members
10.1HADHA, HADHB
510.0APOA1, APOB, MTTP
6
Hide members
9.9APOB, APOE, APOA1
79.9APOB, APOE, APOA1
89.8APOB, APOA2, APOA1
9
Hide members
9.7CPT2, LPL, HADHA, HADHB
109.6APOA1, APOA2, LPL, CPT2
11
Hide members
9.4APOA1, APOA2, HADHB, HADHA, CPT2
12
Hide members
9.1APOA1, APOE, APOA2, APOC2, APOB, LPL
139.1APOA1, APOE, APOA2, APOC2, APOB, LPL
14
Hide members
8.6MTTP, LPL, APOB, APOC2, APOA2, APOE
15
Hide members
8.3CETP, LCAT, P4HB, MTTP, LPL, APOB
16
Hide members
7.9APOA2, APOE, APOA1, SAR1B, LCAT, APOC2

Compounds for genes affiliated with Abetalipoproteinemia

Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR, 50PharmGKB, 60Tocris Bioscience
See all sources

Compounds related to Abetalipoproteinemia according to GeneCards/GeneDecks:

(show top 50)    (show all 123)
idCompoundScoreTop Affiliating Genes
1xbai4510.4LPL, APOE
2alpha tocopherol4510.4LPL, TTPA, LCAT
3estrogen4510.4MTTP, CETP, LCAT
4torcetrapib4510.2CETP, APOA1, LCAT
5psyllium4510.2CETP, LCAT, APOB
6sodium oleate4510.2CETP, LPL, APOA1
7lathosterol45 2411.1APOB, CETP, MTTP, APOE
8trioleoylglycerol4510.1APOA1, LPL, APOC2
9tocopherol4510.0APOA1, APOB, LPL, TTPA
10palmitate4510.0CPT2, CETP, HADHA, HADHB, LCAT
11ezetimibe45 1111.0APOB, APOA1, MTTP, CETP
12p-opc4510.0APOA2, CETP, LCAT, APOA1
13niacin45 1110.9MTTP, APOA1, APOB, LPL, CETP
14retinyl palmitate45 2410.9APOA1, LCAT, APOB, APOE, LPL
15dimyristoylphosphatidylcholine459.9APOA1, APOE, LCAT, APOA2
16oleic acid45 29 11 2412.9MTTP, PLA2G7, CETP, APOB, LPL
17pravastatin45 50 29 11 2413.8LCAT, APOA1, CETP, APOB, APOE
18acyl-coa459.8HADHA, HADHB, CPT2, MTTP, LPL
19linoleic acid45 29 2411.8LCAT, CPT2, MTTP, LPL, CETP
20probucol45 1110.8LCAT, APOA1, APOE, APOB, CETP, LPL
21fluvastatin45 50 29 1112.7CETP, LPL, APOA1, PLA2G7, APOE, APOB
22lovastatin45 50 60 29 1113.6CETP, APOE, LPL, APOB, APOA1
23fenofibrate45 50 1111.6APOA2, CETP, APOA1, APOB, PLA2G7, LPL
24carnitine459.6CPT2, MTTP, LPL, HADHB, APOB, APOA1
25aspirin45 50 29 2412.6APOE, APOA1, APOB, HADHA, PLA2G7, CETP
26simvastatin45 50 60 29 11 2414.6CETP, MTTP, LPL, APOB, APOE, APOA1
27mspi459.5APOB, CETP, APOA1, APOA2
28sodium dodecylsulfate459.5LCAT, APOE, APOC2, LPL, CETP
29intralipid459.5APOA2, APOA1, LPL, APOE, APOB, CETP
30bezafibrate45 29 1111.5APOA2, LCAT, CETP, APOB, APOE, LPL
31atorvastatin45 50 29 11 2413.4LCAT, APOB, LPL, APOE, CETP, PLA2G7
32homocysteine45 2410.4APOA1, CETP, APOB, APOC2, APOE
33gemfibrozil45 29 1111.4CETP, APOA1, APOE, APOA2, APOC2, APOB
34sterol459.3LCAT, APOA1, CETP, PCSK9, MTTP, HADHB
35guanidine45 11 2411.3LCAT, P4HB, APOE, APOA1
36cholesterol ester459.2LCAT, APOA1, APOE, APOA2, APOB, LPL
37vitamin a45 11 2411.2CETP, LCAT, APOA1, APOE, APOC2, APOB
38lactate459.2HADHB, APOB, LPL, P4HB, CPT2, APOA1
39creatinine459.1P4HB, HADHA, APOE, APOA1, APOC2, APOB
40heparin45 29 11 2412.0APOB, LPL, LCAT, APOE, APOA2, APOC2
41methionine458.9APOC2, APOA2, MTTP, P4HB, LGALS1, LCAT
42glutamine458.9CETP, LGALS1, TTPA, APOB, HADHA, LPL
43phosphatidylcholine458.8CETP, PLA2G7, P4HB, MTTP, LPL, APOB
44phospholipid458.6APOA1, LCAT, APOE, APOA2, APOC2, CETP
45triacylglycerol458.6CETP, PLA2G7, P4HB, MTTP, LPL, APOB
46fatty acid458.4LGALS1, CETP, CPT2, HADHB, PLA2G7, MTTP
47glucose458.3MTTP, APOA2, APOA1, APOC2, APOB, CPT2
48cholesterol45 29 11 2410.9TTPA, PCSK9, P4HB, ANGPTL3, MTTP, LPL
49serine457.9APOE, APOA2, APOC2, LGALS1, APOB, HADHA
50lipid456.8CPT2, LCAT, CETP, LGALS1, PLA2G7, TTPA

GO Terms for genes affiliated with Abetalipoproteinemia

Sources:
16Gene Ontology
See all sources

Cellular components related to Abetalipoproteinemia according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1mitochondrial fatty acid beta-oxidation multienzyme complexGO:01650710.1HADHA, HADHB
2intermediate-density lipoprotein particleGO:03436310.1APOE, APOC2, APOB
3endocytic vesicle lumenGO:07168210.0APOB, APOE, APOA1
4low-density lipoprotein particleGO:0343629.9APOE, APOC2, APOB, PLA2G7
5spherical high-density lipoprotein particleGO:0343669.9APOA1, APOA2, APOC2
6late endosomeGO:0057709.8TTPA, PCSK9, APOE
7extrinsic to external side of plasma membraneGO:0312329.7PCSK9, APOE
8high-density lipoprotein particleGO:0343649.7LCAT, APOA1, APOE, APOA2, CETP
9chylomicronGO:0426279.6APOE, APOA2, APOC2, APOB, LPL
10endoplasmic reticulum lumenGO:0057889.5APOA1, APOA2, APOB, MTTP, P4HB
11very-low-density lipoprotein particleGO:0343619.4LPL, APOB, APOC2, APOA2, APOE, APOA1
12early endosomeGO:0057699.3PCSK9, APOB, APOC2, APOA2, APOE, APOA1
13cell surfaceGO:0099869.0LPL, ANGPTL3, P4HB, PCSK9, LGALS1
14extracellular regionGO:0055768.5LCAT, APOA1, APOE, APOA2, APOC2, APOB
15extracellular spaceGO:0056158.5LCAT, APOA1, APOE, APOC2, APOB, LPL

Biological processes related to Abetalipoproteinemia according to GeneCards/GeneDecks:

(show all 46)
idNameGO IDScoreTop Affiliating Genes
1lipoprotein catabolic processGO:04215910.4APOE, APOB
2chylomicron remodelingGO:03437110.3APOC2, LPL
3regulation of Cdc42 protein signal transductionGO:03248910.3APOA1, APOE
4negative regulation of lipase activityGO:06019210.3APOA1, APOA2
5lipoprotein transportGO:04295310.3MTTP, APOB, APOC2
6fatty acid beta-oxidationGO:00663510.3HADHB, HADHA, CPT2
7negative regulation of very-low-density lipoprotein particle remodelingGO:01090310.3APOA1, APOA2
8peripheral nervous system axon regenerationGO:01401210.2APOA1, APOE
9triglyceride-rich lipoprotein particle remodelingGO:03437010.2APOA2, APOC2
10regulation of intestinal cholesterol absorptionGO:03030010.2APOA1, APOA2
11artery morphogenesisGO:04884410.2APOE, APOB, ANGPTL3
12phospholipid homeostasisGO:05509110.2APOA1, ANGPTL3, CETP
13negative regulation of cholesterol transportGO:03237510.2APOA2, APOC2
14protein oxidationGO:01815810.2APOA1, APOA2
15positive regulation of lipid catabolic processGO:05099610.2APOA2, ANGPTL3
16cholesterol transportGO:03030110.2CETP, APOB, APOA1, LCAT
17phosphatidylcholine biosynthetic processGO:00665610.1APOA2, APOA1, LCAT
18negative regulation of cytokine secretion involved in immune responseGO:00274010.1APOA1, APOA2
19lipoprotein biosynthetic processGO:04215810.1APOB, APOE, APOA1, LCAT
20high-density lipoprotein particle assemblyGO:03438010.1APOA1, APOE, APOA2
21positive regulation of macrophage derived foam cell differentiationGO:01074410.1LPL, APOB
22positive regulation of cholesterol esterificationGO:01087310.1APOA2, APOE, APOA1
23chylomicron remnant clearanceGO:03438210.1APOE, APOC2
24cardiolipin acyl-chain remodelingGO:03596510.1HADHB, HADHA
25receptor-mediated endocytosisGO:00689810.1CETP, APOB, APOE
26peptidyl-methionine modificationGO:01820610.0APOA1, APOA2
27positive regulation of cholesterol storageGO:01088610.0APOB, LPL
28high-density lipoprotein particle clearanceGO:0343849.9APOA1, APOE, APOA2, APOC2
29phospholipid effluxGO:0337009.9APOA1, APOE, APOA2, APOC2
30very-low-density lipoprotein particle remodelingGO:0343729.9LCAT, APOE, APOC2, LPL, CETP
31low-density lipoprotein particle remodelingGO:0343749.9APOE, APOA2, APOB, PLA2G7, CETP
32high-density lipoprotein particle remodelingGO:0343759.8LCAT, APOA1, APOE, APOA2, CETP
33triglyceride homeostasisGO:0703289.8APOA1, APOC2, LPL, ANGPTL3, CETP
34cellular lipid metabolic processGO:0442559.8APOA1, APOA2, HADHB, HADHA, CPT2
35cholesterol effluxGO:0333449.8APOA1, APOE, APOA2, APOC2, APOB
36phospholipid catabolic processGO:0093959.6ANGPTL3, APOA2
37phospholipid metabolic processGO:0066449.6LCAT, HADHB, HADHA, LPL, ANGPTL3, PCSK9
38reverse cholesterol transportGO:0436919.6LCAT, APOA1, APOE, APOA2, APOC2, CETP
39triglyceride metabolic processGO:0066419.6APOE, APOA2, LPL, MTTP, PCSK9, CETP
40retinoid metabolic processGO:0015239.6APOA1, APOE, APOA2, APOC2, APOB, LPL
41phototransduction, visible lightGO:0076039.5APOA1, APOE, APOA2, APOC2, APOB, LPL
42response to drugGO:0424939.3APOA1, APOA2, APOC2, HADHA, LPL, LGALS1
43cholesterol metabolic processGO:0082039.2LCAT, CETP, PCSK9, ANGPTL3, APOB, APOA2
44cholesterol homeostasisGO:0426328.8APOC2, APOA2, APOE, APOA1, LCAT, APOB
45lipoprotein metabolic processGO:0421578.5CETP, PCSK9, P4HB, MTTP, LPL, APOB
46small molecule metabolic processGO:0442817.9APOC2, APOA2, APOE, APOA1, SAR1B, LCAT

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:01712910.4LPL, CETP
3long-chain-enoyl-CoA hydratase activityGO:01650810.3HADHB, HADHA
4enoyl-CoA hydratase activityGO:00430010.2HADHA, HADHB
5high-density lipoprotein particle receptor bindingGO:07065310.2APOA1, APOA2
6very-low-density lipoprotein particle receptor bindingGO:07032610.2PCSK9, APOE
7apolipoprotein bindingGO:03418510.1LPL, MTTP, PCSK9
8phospholipid transporter activityGO:00554810.1CETP, APOA1
9low-density lipoprotein particle receptor bindingGO:05075010.1PCSK9, APOB, APOE
10phosphatidylcholine-sterol O-acyltransferase activator activityGO:06022810.1APOA2, APOE, APOA1
11lipase inhibitor activityGO:05510210.0APOC2, APOA2, APOA1
12cholesterol bindingGO:01548510.0CETP, APOA2, APOA1
13apolipoprotein receptor bindingGO:03419010.0APOA1, APOA2, PCSK9
143-hydroxyacyl-CoA dehydrogenase activityGO:00385710.0HADHB, HADHA
15high-density lipoprotein particle bindingGO:00803510.0APOA1, APOA2
16lipid transporter activityGO:00531910.0APOE, APOA2, MTTP, CETP
17cholesterol transporter activityGO:0171279.7CETP, APOB, APOA2, APOE, APOA1
18phosphatidylcholine bindingGO:0312109.7CETP, APOA2
19lipid bindingGO:0082899.7APOE, APOA2, APOC2, MTTP, CETP
20phospholipid bindingGO:0055439.7APOA1, APOE, APOA2, APOB, PLA2G7
21protein heterodimerization activityGO:0469829.5APOE, APOA2, APOB, MTTP, P4HB
22protein bindingGO:0055157.7APOA1, APOE, APOA2, APOB, HADHB, HADHA

Products for genes affiliated with Abetalipoproteinemia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Abetalipoproteinemia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet