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

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, Spinal cord, Brain

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:00053858.9APOA1, APOE, APOB, HADHB, HADHA, LPL
2MP:00053708.4PCSK9, LCAT, APOA1, APOE, APOB, HADHB
3MP:00053767.5APOA2, APOE, APOA1, SAR1B, LCAT, APOB

Publications for Abetalipoproteinemia

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50PubMed
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Articles related to Abetalipoproteinemia:

(show top 50)    (show all 157)
idTitleAuthorsYear
1
Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia. (24139731)
2014
2
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia. (23043934)
2013
3
Knee pain: an unanticipated finding related to a rare genetic disorder--abetalipoproteinemia. (24170593)
2013
4
Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. (24288038)
2013
5
Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia. (22150066)
2012
6
Abetalipoproteinemia in a Saudi infant. (21333248)
2011
7
Disc swelling in abetalipoproteinemia: a novel feature of Bassen-Kornzweig syndrome. (21484752)
2011
8
Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function. (20592474)
2010
9
Rickets and dysmorphic findings in a child with abetalipoproteinemia. (20953537)
2010
10
Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia. (19056372)
2009
11
Morphological diagnosis of abetalipoproteinemia and the importance of a freshly prepared peripheral smear. (19552676)
2009
12
Maternal abetalipoproteinemia resulting in multiple fetal anomalies. (18784430)
2008
13
Abetalipoproteinemia complicating the puerperium. (18239027)
2008
14
Abetalipoproteinemia. (18367944)
2008
15
Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient. (17275380)
2007
16
Apolipoprotein B48 glycosylation in abetalipoproteinemia and Anderson's disease. (11677202)
2001
17
Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia. (10679949)
2000
18
Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia. (10946006)
2000
19
The role of the microsomal triglygeride transfer protein in abetalipoproteinemia. (10940349)
2000
20
Microsomal triglyceride transfer protein and abetalipoproteinemia]. (10891663)
2000
21
Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene. (10446076)
1999
22
Helicoid peripapillary chorioretinal degeneration in abetalipoproteinemia. (9488285)
1998
23
A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase. (8939939)
1996
24
A 30-amino acid truncation of the microsomal triglyceride transfer protein large subunit disrupts its interaction with protein disulfide-isomerase and causes abetalipoproteinemia. (7782284)
1995
25
The molecular basis of abetalipoproteinemia. (8044420)
1994
26
Discrimination between RRR- and all-racemic-alpha-tocopherols labeled with deuterium by patients with abetalipoproteinemia. (7980705)
1994
27
Histochemical and ultrastructural pathology of skeletal muscle in a patient with abetalipoproteinemia. (8310805)
1993
28
Genetic exclusion of apo-B gene in recessive abetalipoproteinemia. (8422264)
1993
29
Is microsomal triglyceride transfer protein the missing link in abetalipoproteinemia? (8340078)
1993
30
Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. (1439810)
1992
31
Description of two different patients with abetalipoproteinemia: synthesis of a normal-sized apolipoprotein B-48 in intestinal organ culture. (2179443)
1990
32
In vivo evidence for cholesterol ester and triglyceride exchange between high density lipoprotein and infused triglyceride rich particles in abetalipoproteinemia. (3223418)
1988
33
Confusing reporting in abetalipoproteinemia. (3631927)
1987
34
Angioid streaks associated with abetalipoproteinemia. Case report. (3632434)
1987
35
The influence of plasma lipoproteins from patients with abetalipoproteinemia on cellular cholesterol esterification. (3689473)
1987
36
Epitopes of apolipoprotein B-100 and B-48 in both liver and intestine. Expression and evidence for local synthesis in recessive abetalipoproteinemia. (2429992)
1986
37
Abetalipoproteinemia. A case report. (3832509)
1985
38
Peripheral neuropathy in abetalipoproteinemia. (2991816)
1985
39
Normotriglyceridemic abetalipoproteinemia in infancy: an isolated apolipoprotein B-100 deficiency. (3975124)
1985
40
Vitamin A and vitamin E replacement in abetalipoproteinemia. (6691669)
1984
41
Regulation of low density lipoprotein receptors by plasma lipoproteins from patients with abetalipoproteinemia. (6304711)
1983
42
Lipoprotein lipase and hepatic lipase activity after heparin administration in abetalipoproteinemia and hypobetalipoproteinemia. (6888269)
1983
43
Role of apolipoprotein E-containing lipoproteins in abetalipoproteinemia. (6294137)
1982
44
The neuropathy of abetalipoproteinemia. (6153056)
1980
45
Sterol balance in abetalipoproteinemia: studies in a patient with homozygous familial hypobetalipoproteinemia. (491973)
1979
46
Endoscopic assessment in abetalipoproteinemia (Bassen-Kornzweig-syndrome). (631097)
1978
47
Liver ultrastructure in abetalipoproteinemia: Evolution of micronodular cirrhosis. (4135110)
1974
48
Abetalipoproteinemia. (4719023)
1973
49
Abnormalities of high density lipoproteins in abetalipoproteinemia. (6027078)
1967
50
Studies on the absorptive defect for triglyceride in abetalipoproteinemia. (6018748)
1967

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
210.1HADHA, HADHB
3
Hide members
10.1HADHA, HADHB
410.1APOA1, APOB
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

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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:01650710.1HADHA, HADHB
2intermediate-density lipoprotein particleGO:03436310.0APOE, 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
16phosphatidylcholine biosynthetic processGO:00665610.1APOA2, APOA1, LCAT
17cholesterol transportGO:03030110.1CETP, APOB, 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 cholesterol esterificationGO:01087310.1APOA2, APOE, APOA1
22positive regulation of macrophage derived foam cell differentiationGO:01074410.1LPL, APOB
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:0333449.7APOA1, 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:0426328.7APOC2, 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

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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