MCID: ABT001
MIFTS: 63

Abetalipoproteinemia malady

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

Aliases & Classifications for Abetalipoproteinemia

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 55SNOMED-CT, 38NCIt, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Abetalipoproteinemia, Aliases & Descriptions:

Name: Abetalipoproteinemia 45 9 10 41 20 21 11 43 47 60
Familial Hypobetalipoproteinemia 9 41 21 47 60
Microsomal Triglyceride Transfer Protein Deficiency Disease 9 41 21
Abetalipoproteinemia Neuropathy 41 21 60
Acanthocytosis 41 21 60
Congenital Betalipoprotein Deficiency Syndrome 41 21
Homozygous Familial Hypobetalipoproteinemia 41 47
Betalipoprotein Deficiency Disease 41 21
Apolipoprotein B Deficiency 41 21
Bassen-Kornzweig Disease 41 47
 
Microsomal-Triglyceride Transfer Protein Deficiency 41
Hypobetalipoproteinemia, Familial, Apolipoprotein B 60
Low-Density Beta Lipoprotein Deficiency 41
Hypobetalipoproteinemia, Familial 41
Bassen-Kornzweig Syndrome 21
Bassen Kornzweig Syndrome 41
Hypobetalipoproteinemias 60
Hypobetalipoproteinemia 21
Fhbl 21
Abl 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
abetalipoproteinemia:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal
familial hypobetalipoproteinemia:
Prevalence: >1/1000 (Worldwide); Age of onset: All ages


External Ids:

OMIM45 200100
Disease Ontology9 DOID:1386
NCIt38 C84525
MeSH33 D000012
Orphanet47 14, 426
MESH via Orphanet34 D000012
ICD10 via Orphanet26 E78.6
UMLS via Orphanet61 C0000744, C1862596

Summaries for Abetalipoproteinemia

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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 based summary: Abetalipoproteinemia, also known as familial hypobetalipoproteinemia, is related to chylomicron retention disease and hypobetalipoproteinemia, and has symptoms including malabsorption, muscular hypotonia and reduced tendon reflexes. An important gene associated with Abetalipoproteinemia is MTTP (microsomal triglyceride transfer protein), and among its related pathways are Selected targets of C EBPbeta and Selected targets of C EBPalpha. The compounds mttp and lipovitellin have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and brain, and related mouse phenotypes are growth/size/body and liver/biliary system.

Disease Ontology:9 A hypolipoproteinemia 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:41 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

OMIM:45 Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL; 615558) are rare diseases characterized by... (200100) more...

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

Related Diseases for Abetalipoproteinemia

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

(show top 50)    (show all 360)
idRelated DiseaseScoreTop Affiliating Genes
1chylomicron retention disease30.7APOB
2hypobetalipoproteinemia30.6ANGPTL3, PCSK9, LCAT, MTTP, APOB
3dilated cardiomyopathy30.5CPT2, PLA2G7, HADHA
4ataxia with vitamin e deficiency30.5TTPA, APOB
5hypothyroidism30.4CETP, APOB
6peripheral vascular disease30.1CETP, APOB
7noonan syndrome 130.0TTPA, CPT2, HADHA
8cholestasis29.9CETP, HADHA, LCAT
9fatty liver disease29.9MTTP, APOB, LCAT, HADHA, APOC3, CETP
10vascular disease29.8CETP, LCAT, PLA2G7, APOB
11chronic kidney failure29.8APOB, CETP, PLA2G7, LCAT
12myocardial infarction29.4LCAT, APOC3, APOB, CETP, PLA2G7
13obesity29.3APOC3, APOB, CPT2, CETP, MTTP, PLA2G7
14atherosclerosis29.1ANGPTL3, MTTP, CETP, APOB, PCSK9, LCAT
15leukemia11.1
16myeloid leukemia11.0
17choreoacanthocytosis10.7
18lymphoblastic leukemia10.6
19central nervous system disease10.4
20nervous system disease10.4
21breast cancer10.4
22acute leukemia10.4
23thyroiditis10.3
24arcus senilis10.3APOB, LCAT
25liver disease10.3
26trifunctional protein deficiency10.3HADHA, HADHB
27harp syndrome10.3
28norum disease10.3LCAT, APOB
29prostatitis10.3
30neurologic diseases10.3
31endotheliitis10.3
32hepatitis10.3
33neuropathy10.3
34hyperlipidemia type 310.3CETP, APOB
35mental retardation hypocupremia hypobetalipoproteinemia10.3
36hereditary spastic paraplegia10.2
37paraplegia10.2
38nguyen syndrome10.2
39spasticity10.2
40glucose intolerance10.2MTTP, APOB
41hypertriglyceridemia10.2APOC3, APOB
42coronary stenosis10.2CETP, APOB
43lung cancer10.2
44thrombocytosis10.2
45rickets10.2
46angioid streaks10.2
47retinitis pigmentosa autosomal recessive10.2MTTP, TTPA, HADHA
48mcleod syndrome with or without chronic granulomatous disease10.2
49hemolytic anemia10.2
50temporal lobe epilepsy10.2

Graphical network of the top 20 diseases related to Abetalipoproteinemia:



Diseases related to abetalipoproteinemia

Symptoms for Abetalipoproteinemia

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Symptoms by clinical synopsis from OMIM:

200100

Clinical features from OMIM:

200100

Symptoms:

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

HPO human phenotypes related to Abetalipoproteinemia:

(show all 22)
id Description Frequency HPO Source Accession
1 malabsorption hallmark (90%) HP:0002024
2 muscular hypotonia typical (50%) HP:0001252
3 reduced tendon reflexes typical (50%) HP:0001315
4 incoordination typical (50%) HP:0002311
5 abnormal retinal pigmentation typical (50%) HP:0007703
6 abnormality of movement typical (50%) HP:0100022
7 visual impairment occasional (7.5%) HP:0000505
8 autosomal dominant inheritance HP:0000006
9 retinitis pigmentosa HP:0000510
10 ataxia HP:0001251
11 reduced tendon reflexes HP:0001315
12 coronary artery disease HP:0001677
13 acanthocytosis HP:0001927
14 fat malabsorption HP:0002630
15 hypercholesterolemia HP:0003124
16 hypobetalipoproteinemia HP:0003563
17 autosomal recessive inheritance HP:0000007
18 retinopathy HP:0000488
19 pigmentary retinal degeneration HP:0001146
20 cns demyelination HP:0007305
21 abetalipoproteinemia HP:0008181
22 peripheral demyelination HP:0011096

Drugs & Therapeutics for Abetalipoproteinemia

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Drug clinical trials:

Search ClinicalTrials for Abetalipoproteinemia

Search NIH Clinical Center for Abetalipoproteinemia

Genetic Tests for Abetalipoproteinemia

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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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MalaCards organs/tissues related to Abetalipoproteinemia:

31
Eye, Liver, Brain, Spinal cord, Skeletal muscle

Animal Models for Abetalipoproteinemia or affiliated genes

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MGI Mouse Phenotypes related to Abetalipoproteinemia:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.0HADHA, APOC3, APOB, ANGPTL3, MTTP, NPC1L1
2MP:00053707.2NPC1L1, HADHB, HADHA, APOB, ANGPTL3, MTTP
3MP:00053857.1HADHB, HADHA, TTPA, APOC3, APOB, MTTP
4MP:00053766.4HADHB, HADHA, TTPA, APOC3, APOB, ANGPTL3

Publications for Abetalipoproteinemia

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Articles related to Abetalipoproteinemia:

(show top 50)    (show all 161)
idTitleAuthorsYear
1
Hypobetalipoproteinemia and abetalipoproteinemia. (24751931)
2014
2
Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia. (24139731)
2014
3
A successful spontaneous pregnancy in abetalipoproteinemia: Amsterdam or the art of vitamin replacement? (25488886)
2014
4
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia. (23043934)
2013
5
Abetalipoproteinemia in a Saudi infant. (21333248)
2011
6
Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function. (20592474)
2010
7
Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia. (19056372)
2009
8
Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases. (19066957)
2009
9
Fat-soluble vitamin deficiency in pregnancy: a case report and review of abetalipoproteinemia. (17022912)
2006
10
Endocrine function in abetalipoproteinemia: a study of a female patient of Greek origin. (15960365)
2004
11
Rickets as an unusual initial presentation of abetalipoproteinemia and hypobetalipoproteinemia. (11308051)
2001
12
Abetalipoproteinemia: a case report. (11592517)
2001
13
Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene. (10446076)
1999
14
Pathological case of the month. Abetalipoproteinemia (Bassen-Kornzweig syndrome). (9412607)
1997
15
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
16
Translocation of apolipoprotein B across the endoplasmic reticulum is blocked in abetalipoproteinemia. (8808765)
1996
17
The abetalipoproteinemia gene is a member of the vitellogenin family and encodes an alpha-helical domain. (7664034)
1994
18
The molecular basis of abetalipoproteinemia. (8044420)
1994
19
Microsomal triglyceride transfer protein, the abetalipoproteinemia gene product, mediates the secretion of apolipoprotein B-containing lipoproteins from heterologous cells. (8071315)
1994
20
Abetalipoproteinemia. New insights into lipoprotein assembly and vitamin E metabolism from a rare genetic disease. (8340987)
1993
21
Histochemical and ultrastructural pathology of skeletal muscle in a patient with abetalipoproteinemia. (8310805)
1993
22
Abnormal platelet functions in a patient with abetalipoproteinemia. (1904656)
1991
23
Neutral lipid transfer activities in the plasma of patients with abetalipoproteinemia. (3377877)
1988
24
In vivo evidence for cholesterol ester and triglyceride exchange between high density lipoprotein and infused triglyceride rich particles in abetalipoproteinemia. (3223418)
1988
25
Abetalipoproteinemia or Bassen-Kornzweig syndrome. Clinical, biochemical and electrophysiological features of two cases. (3206997)
1988
26
Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia. (2903181)
1988
27
Abetalipoproteinemia associated with hepatic and atypical neurological disorders. (3694376)
1987
28
Absence of intestinal synthesis of apolipoprotein B-48 in two cases of abetalipoproteinemia. (3653634)
1987
29
Abetalipoproteinemia. A case report. (3832509)
1985
30
Peripheral neuropathy in abetalipoproteinemia. (2991816)
1985
31
Abetalipoproteinemia and metastatic spinal cord glioblastoma. (6326713)
1984
32
Abetalipoproteinemia. Report of an unusual patient. (6472810)
1984
33
Vitamin A and vitamin E replacement in abetalipoproteinemia. (6691669)
1984
34
Electrophysiological studies in five cases of abetalipoproteinemia. (6704795)
1984
35
Alterations in erythrocyte membrane lipids in abetalipoproteinemia: phospholipid and fatty acyl composition. (6497872)
1984
36
A case report of abetalipoproteinemia (Bassen-Kornzweig syndrome)--the first case in Japan. (6620711)
1983
37
Corticosteroid production in abetalipoproteinemia: evidence for an impaired response ACTH. (6283000)
1982
38
Hormone changes during the menstrual cycle in abetalipoproteinemia: reduced luteal phase progesterone in a patient with homozygous hypobetalipoproteinemia. (6959145)
1982
39
Importance of cholesterol-phospholipid interaction in determining dynamics of normal and abetalipoproteinemia red blood cell membrane. (6168375)
1981
40
The neuropathy of abetalipoproteinemia. (6153056)
1980
41
Sterol balance in abetalipoproteinemia: studies in a patient with homozygous familial hypobetalipoproteinemia. (491973)
1979
42
Endoscopic assessment in abetalipoproteinemia (Bassen-Kornzweig-syndrome). (631097)
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
Decreased fluidity of red cell membrane lipids in abetalipoproteinemia. (874076)
1977
45
Abetalipoproteinemia and the eye. (782598)
1976
46
Abetalipoproteinemia. (4719023)
1973
47
Abetalipoproteinemia: metabolic, endocrine, and electron-microscopic investigations. (5561886)
1971
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
Abnormalities of high density lipoproteins in abetalipoproteinemia. (6027078)
1967

Variations for Abetalipoproteinemia

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UniProtKB/Swiss-Prot 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

Clinvar genetic disease variations for Abetalipoproteinemia:

6 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1MTTPMTP, 1-BP DEL, 215CdeletionPathogenic
2MTTPNM_000253.3(MTTP): c.1783C> T (p.Arg595Ter)single nucleotide variantPathogenicrs199422219GRCh37Chr 4, 100532313: 100532313
3MTTPMTP, IVS, G-A, +5single nucleotide variantPathogenic
4MTTPMTP, IVS9AS, G-A, -1single nucleotide variantPathogenic
5MTTPNM_000253.3(MTTP): c.1619G> A (p.Arg540His)single nucleotide variantPathogenicrs199422220GRCh37Chr 4, 100529984: 100529984
6MTTPMTP, EXON 10 DELdeletionPathogenic
7MTTPNM_000253.3(MTTP): c.2338A> T (p.Asn780Tyr)single nucleotide variantPathogenicrs199422221GRCh37Chr 4, 100540251: 100540251
8MTTPNM_000253.3(MTTP): c.1769G> T (p.Ser590Ile)single nucleotide variantPathogenicrs199422222GRCh37Chr 4, 100530134: 100530134
9MTTPNM_000253.3(MTTP): c.2593G> T (p.Gly865Ter)single nucleotide variantPathogenicrs146064714GRCh37Chr 4, 100543913: 100543913
10NM_014495.3(ANGPTL3): c.50_51delCCinsGA (p.Ser17Ter)indelPathogenicrs267606655GRCh37Chr 1, 63063287: 63063288
11NM_014495.3(ANGPTL3): c.385G> T (p.Glu129Ter)single nucleotide variantPathogenicrs200785483GRCh37Chr 1, 63063622: 63063622
12NM_014495.3(ANGPTL3): c.1198+1G> Tsingle nucleotide variantPathogenicrs398122985GRCh37Chr 1, 63069907: 63069907
13NM_014495.3(ANGPTL3): c.55delA (p.Ile19Leufs)deletionPathogenicrs398122986GRCh37Chr 1, 63063292: 63063292
14NM_014495.3(ANGPTL3): c.439_442delAACT (p.Asn147Terfs)deletionPathogenicrs398122987GRCh37Chr 1, 63063676: 63063679
15NM_014495.3(ANGPTL3): c.363_367delCTCAA (p.Asn121Lysfs)deletionPathogenicrs398122988GRCh37Chr 1, 63063600: 63063604
16NM_014495.3(ANGPTL3): c.883T> C (p.Phe295Leu)single nucleotide variantPathogenicrs398122989GRCh37Chr 1, 63068003: 63068003

Expression for genes affiliated with Abetalipoproteinemia

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Search GEO for disease gene expression data for Abetalipoproteinemia.

Pathways for genes affiliated with Abetalipoproteinemia

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Pathways related to Abetalipoproteinemia according to GeneCards Suite gene sharing:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.7NPC1L1, MTTP, APOB
2
Show member pathways
9.4HADHB, HADHA
3
Show member pathways
oleate biosynthesis II (animals)36
9.4HADHA, HADHB
4
Show member pathways
fatty acid beta-oxidation I36
eicosapentaenoate biosynthesis II (metazoa)36
gamma-linolenate biosynthesis II (animals)36
fatty acid activation36
9.4HADHA, HADHB
5
Show member pathways
9.0CPT2, HADHA, HADHB
6
Show member pathways
mitochondrial L-carnitine shuttle pathway36
Saturated fatty acid biosynthesis58
9.0HADHB, HADHA, CPT2
7
Show member pathways
fatty acid beta-oxidation III (unsaturated, odd number)36
Fatty Acid Beta Oxidation36
9.0HADHB, HADHA, CPT2
8
Show member pathways
8.6HADHB, HADHA, LCAT
9
Show member pathways
8.3APOC3, APOB, CETP, MTTP, LCAT
10
Show member pathways
8.0NPC1L1, LCAT, MTTP, CETP, APOB, APOC3
11
Show member pathways
6.0HADHB, HADHA, APOC3, APOB, CPT2, CETP

Compounds for genes affiliated with Abetalipoproteinemia

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Compounds related to Abetalipoproteinemia according to GeneCards Suite gene sharing:

(show top 50)    (show all 240)
idCompoundScoreTop Affiliating Genes
1mttp4310.3APOB, MTTP
2lipovitellin4310.2MTTP, APOB
3lomitapide49 1211.1APOB, PCSK9, MTTP
4lathosterol43 2410.8APOB, CETP, MTTP
5cholestyramine439.7APOC3, APOB, CETP
63-ketopalmitoyl-coa439.7HADHB, HADHA
7xbai439.7APOB, APOC3, CETP
8niacin43 1210.7MTTP, CETP, APOB
9gemfibrozil28 43 1211.7CETP, APOB, APOC3
10rosuvastatin43 49 28 1212.6APOC3, APOB, CETP
11mspi439.6APOC3, APOB, CETP
12ezetimibe43 1210.6MTTP, CETP, APOB, NPC1L1
13lovastatin43 49 59 28 1213.4APOC3, CETP, NPC1L1, APOB
14oleic acid43 28 24 1212.3PLA2G7, MTTP, CETP, APOB
15i-bop43 2810.3HADHB, HADHA
16psyllium439.3CETP, LCAT, APOB
17torcetrapib439.3LCAT, CETP
18fenofibrate43 49 1211.2APOC3, APOB, CETP, PLA2G7
19probucol43 1210.2CETP, APOB, LCAT
20fluvastatin43 49 28 1212.2PLA2G7, APOB, CETP
21cholesteryl linoleate439.1CETP, LCAT
22lysophosphatidylcholine28 4310.1LCAT, PLA2G7, MTTP
23simvastatin43 49 59 28 24 1214.0CETP, MTTP, LCAT, APOB
24docosahexaenoic acid43 28 2411.0HADHA, LCAT, CPT2
25intralipid439.0CETP, LCAT, APOC3, APOB
26bezafibrate43 28 1210.9APOC3, APOB, LCAT, CETP
27carnitine438.9HADHB, HADHA, APOB, CPT2, MTTP
28alpha tocopherol438.9APOB, LCAT, CETP, TTPA
29linoleic acid28 43 2410.9CPT2, CETP, LCAT, MTTP
30acyl-coa438.8HADHA, APOC3, CPT2, MTTP, HADHB
31vitamin a43 24 1210.7CETP, APOB, APOC3, LCAT
32aspirin43 49 28 2411.7HADHA, PLA2G7, CETP, APOB
33creatinine438.6CPT2, HADHB, HADHA, APOC3, APOB
34thromboxane43 249.6PLA2G7, HADHA, HADHB
35phosphatidylcholine438.5PLA2G7, LCAT, MTTP, CETP, APOB
36pravastatin43 49 28 24 1212.4APOC3, APOB, CETP, MTTP, LCAT, NPC1L1
37polyacrylamide438.3LCAT, PLA2G7, CETP, APOC3
38cholesterol ester438.2PLA2G7, MTTP, CETP, APOB, LCAT, APOC3
39glutamine438.2LCAT, APOB, TTPA, CETP, HADHA
40triacylglycerol438.2LCAT, PLA2G7, MTTP, CETP, APOB, APOC3
41atorvastatin43 49 28 24 1212.2APOB, CETP, MTTP, PLA2G7, LCAT, APOC3
42phospholipid438.2APOB, PLA2G7, MTTP, CETP, LCAT, APOC3
43estrogen438.0PLA2G7, APOC3, MTTP, APOB, CETP, LCAT
44sterol438.0MTTP, APOB, HADHB, CETP, NPC1L1, PCSK9
45glucose438.0APOB, CPT2, APOC3, HADHA, HADHB, MTTP
46palmitate437.8APOB, LCAT, HADHB, CPT2, CETP, HADHA
47serine437.1PCSK9, LCAT, APOC3, PLA2G7, CETP, CPT2
48cholesterol43 28 24 1210.0TTPA, APOC3, APOB, ANGPTL3, CETP, PLA2G7
49fatty acid436.7MTTP, LCAT, HADHA, APOC3, APOB, CPT2
50lipid435.5TTPA, HADHB, HADHA, APOC3, APOB, CPT2

GO Terms for genes affiliated with Abetalipoproteinemia

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1intermediate-density lipoprotein particleGO:003436310.1APOB, APOC3
2chylomicronGO:004262710.1APOC3, APOB
3very-low-density lipoprotein particleGO:00343619.9APOB, APOC3
4rough endoplasmic reticulumGO:00057919.9PCSK9, MTTP
5low-density lipoprotein particleGO:00343629.9PLA2G7, APOB
6early endosomeGO:00057699.7APOC3, APOB, PCSK9
7mitochondrial fatty acid beta-oxidation multienzyme complexGO:00165079.6HADHA, HADHB
8mitochondrial nucleoidGO:00426459.4HADHA, HADHB
9high-density lipoprotein particleGO:00343649.1LCAT, CETP
10extracellular spaceGO:00056158.2APOC3, APOB, ANGPTL3, CETP, LCAT, PCSK9
11extracellular regionGO:00055767.7APOC3, APOB, CETP, PLA2G7, LCAT

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

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1regulation of low-density lipoprotein particle receptor catabolic processGO:003280310.2PCSK9, MYLIP
2negative regulation of lipoprotein lipase activityGO:005100510.1APOC3, ANGPTL3
3triglyceride mobilizationGO:000664210.1APOC3, APOB
4very-low-density lipoprotein particle assemblyGO:003437910.0APOB, APOC3
5lipoprotein transportGO:004295310.0APOC3, APOB, MTTP
6artery morphogenesisGO:004884410.0ANGPTL3, APOB
7negative regulation of low-density lipoprotein particle clearanceGO:00109899.9PCSK9, MYLIP, APOC3
8phospholipid homeostasisGO:00550919.8CETP, ANGPTL3
9triglyceride catabolic processGO:00194339.8APOB, APOC3
10lipid homeostasisGO:00550889.7CETP, ANGPTL3
11lipoprotein biosynthetic processGO:00421589.6APOB, LCAT
12triglyceride homeostasisGO:00703289.6CETP, ANGPTL3, APOC3
13cardiolipin acyl-chain remodelingGO:00359659.6HADHB, HADHA
14cholesterol effluxGO:00333449.6APOB, APOC3
15low-density lipoprotein particle remodelingGO:00343749.5PLA2G7, CETP, APOB
16triglyceride metabolic processGO:00066419.4APOC3, CETP, MTTP, PCSK9
17very-low-density lipoprotein particle remodelingGO:00343729.3CETP, LCAT
18fatty acid beta-oxidationGO:00066359.3HADHB, HADHA, CPT2
19high-density lipoprotein particle remodelingGO:00343759.1APOC3, CETP, LCAT
20reverse cholesterol transportGO:00436919.1APOC3, CETP, LCAT
21cellular lipid metabolic processGO:00442559.1HADHB, HADHA, CPT2
22cholesterol transportGO:00303018.9APOB, CETP, LCAT, NPC1L1
23phospholipid metabolic processGO:00066448.4HADHB, HADHA, ANGPTL3, LCAT, PCSK9
24cholesterol metabolic processGO:00082038.3APOC3, APOB, ANGPTL3, CETP, LCAT, PCSK9
25lipoprotein metabolic processGO:00421578.1APOC3, APOB, CETP, MTTP, LCAT, PCSK9
26cholesterol homeostasisGO:00426327.8PCSK9, APOC3, LCAT, MTTP, CETP, ANGPTL3
27small molecule metabolic processGO:00442816.9HADHB, HADHA, APOC3, APOB, CPT2, CETP

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1low-density lipoprotein particle receptor bindingGO:005075010.1APOB, PCSK9
2apolipoprotein bindingGO:003418510.0PCSK9, MTTP
3cholesterol transporter activityGO:00171279.8APOB, CETP
4lipid transporter activityGO:00053199.7MTTP, CETP
5long-chain-3-hydroxyacyl-CoA dehydrogenase activityGO:00165099.7HADHA, HADHB
6long-chain-enoyl-CoA hydratase activityGO:00165089.6HADHA, HADHB
7enoyl-CoA hydratase activityGO:00043009.6HADHA, HADHB
83-hydroxyacyl-CoA dehydrogenase activityGO:00038579.6HADHA, HADHB
9phospholipid bindingGO:00055439.6APOC3, APOB, PLA2G7
10NAD bindingGO:00512879.4HADHA, HADHB
11cholesterol bindingGO:00154859.3CETP, APOC3
12fatty-acyl-CoA bindingGO:00000629.3HADHB, HADHA

Products for genes affiliated with Abetalipoproteinemia

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Sources for Abetalipoproteinemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet