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:
46OMIM, 8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 61UMLS, 56SNOMED-CT, 39NCIt, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Abetalipoproteinemia:

Name: Abetalipoproteinemia 46 8 9 42 20 21 10 44 48 61
Familial Hypobetalipoproteinemia 8 42 21 48 61
Microsomal Triglyceride Transfer Protein Deficiency Disease 8 42 21
Abetalipoproteinemia Neuropathy 42 21 61
Acanthocytosis 42 21 61
Congenital Betalipoprotein Deficiency Syndrome 42 21
Homozygous Familial Hypobetalipoproteinemia 42 48
Betalipoprotein Deficiency Disease 42 21
Apolipoprotein B Deficiency 42 21
Bassen-Kornzweig Disease 42 48
 
Microsomal-Triglyceride Transfer Protein Deficiency 42
Hypobetalipoproteinemia, Familial, Apolipoprotein B 61
Low-Density Beta Lipoprotein Deficiency 42
Hypobetalipoproteinemia, Familial 42
Bassen-Kornzweig Syndrome 21
Bassen Kornzweig Syndrome 42
Hypobetalipoproteinemias 61
Hypobetalipoproteinemia 21
Fhbl 21
Abl 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
abetalipoproteinemia:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal
familial hypobetalipoproteinemia:
Prevalence: >1/1000 (Worldwide); Age of onset: All ages


External Ids:

OMIM46 200100
Disease Ontology8 DOID:1386
NCIt39 C84525
MeSH33 D000012
Orphanet48 14, 426
MESH via Orphanet34 D000012
ICD10 via Orphanet26 E78.6
UMLS via Orphanet62 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:8 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: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

OMIM:46 Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL; 615558) are rare diseases characterized by... (200100) more...

Wikipedia:64 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:

 48 (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:

63
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:

5 (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 biosynthesis59
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
1mttp4410.3APOB, MTTP
2lipovitellin4410.2MTTP, APOB
3lomitapide50 1111.1APOB, PCSK9, MTTP
4lathosterol44 2410.8APOB, CETP, MTTP
5cholestyramine449.7APOC3, APOB, CETP
63-ketopalmitoyl-coa449.7HADHB, HADHA
7xbai449.7APOB, APOC3, CETP
8niacin44 1110.7MTTP, CETP, APOB
9gemfibrozil28 44 1111.7CETP, APOB, APOC3
10rosuvastatin44 50 28 1112.6APOC3, APOB, CETP
11mspi449.6APOC3, APOB, CETP
12ezetimibe44 1110.6MTTP, CETP, APOB, NPC1L1
13lovastatin44 50 60 28 1113.4APOC3, CETP, NPC1L1, APOB
14oleic acid44 28 24 1112.3PLA2G7, MTTP, CETP, APOB
15i-bop44 2810.3HADHB, HADHA
16psyllium449.3CETP, LCAT, APOB
17torcetrapib449.3LCAT, CETP
18fenofibrate44 50 1111.2APOC3, APOB, CETP, PLA2G7
19probucol44 1110.2CETP, APOB, LCAT
20fluvastatin44 50 28 1112.2PLA2G7, APOB, CETP
21cholesteryl linoleate449.1CETP, LCAT
22lysophosphatidylcholine28 4410.1LCAT, PLA2G7, MTTP
23simvastatin44 50 60 28 24 1114.0CETP, MTTP, LCAT, APOB
24docosahexaenoic acid44 28 2411.0HADHA, LCAT, CPT2
25intralipid449.0CETP, LCAT, APOC3, APOB
26bezafibrate44 28 1110.9APOC3, APOB, LCAT, CETP
27carnitine448.9HADHB, HADHA, APOB, CPT2, MTTP
28alpha tocopherol448.9APOB, LCAT, CETP, TTPA
29linoleic acid28 44 2410.9CPT2, CETP, LCAT, MTTP
30acyl-coa448.8HADHA, APOC3, CPT2, MTTP, HADHB
31vitamin a44 24 1110.7CETP, APOB, APOC3, LCAT
32aspirin44 50 28 2411.7HADHA, PLA2G7, CETP, APOB
33creatinine448.6CPT2, HADHB, HADHA, APOC3, APOB
34thromboxane44 249.6PLA2G7, HADHA, HADHB
35phosphatidylcholine448.5PLA2G7, LCAT, MTTP, CETP, APOB
36pravastatin44 50 28 24 1112.4APOC3, APOB, CETP, MTTP, LCAT, NPC1L1
37polyacrylamide448.3LCAT, PLA2G7, CETP, APOC3
38cholesterol ester448.2PLA2G7, MTTP, CETP, APOB, LCAT, APOC3
39glutamine448.2LCAT, APOB, TTPA, CETP, HADHA
40triacylglycerol448.2LCAT, PLA2G7, MTTP, CETP, APOB, APOC3
41atorvastatin44 50 28 24 1112.2APOB, CETP, MTTP, PLA2G7, LCAT, APOC3
42phospholipid448.2APOB, PLA2G7, MTTP, CETP, LCAT, APOC3
43estrogen448.0PLA2G7, APOC3, MTTP, APOB, CETP, LCAT
44sterol448.0MTTP, APOB, HADHB, CETP, NPC1L1, PCSK9
45glucose448.0APOB, CPT2, APOC3, HADHA, HADHB, MTTP
46palmitate447.8APOB, LCAT, HADHB, CPT2, CETP, HADHA
47serine447.1PCSK9, LCAT, APOC3, PLA2G7, CETP, CPT2
48cholesterol44 28 24 1110.0TTPA, APOC3, APOB, ANGPTL3, CETP, PLA2G7
49fatty acid446.7MTTP, LCAT, HADHA, APOC3, APOB, CPT2
50lipid445.5TTPA, 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:004295310.0MTTP, APOB, APOC3
6cholesterol effluxGO:00333449.9APOC3, APOB
7negative regulation of low-density lipoprotein particle clearanceGO:00109899.9MYLIP, PCSK9, APOC3
8phospholipid homeostasisGO:00550919.8CETP, ANGPTL3
9triglyceride catabolic processGO:00194339.8APOC3, APOB
10lipid homeostasisGO:00550889.7ANGPTL3, CETP
11artery morphogenesisGO:00488449.7ANGPTL3, APOB
12triglyceride homeostasisGO:00703289.6APOC3, CETP, ANGPTL3
13lipoprotein biosynthetic processGO:00421589.6LCAT, APOB
14cardiolipin acyl-chain remodelingGO:00359659.6HADHA, HADHB
15low-density lipoprotein particle remodelingGO:00343749.5PLA2G7, CETP, APOB
16triglyceride metabolic processGO:00066419.4PCSK9, APOC3, MTTP, CETP
17very-low-density lipoprotein particle remodelingGO:00343729.3CETP, LCAT
18fatty acid beta-oxidationGO:00066359.3CPT2, HADHB, HADHA
19high-density lipoprotein particle remodelingGO:00343759.1LCAT, CETP, APOC3
20reverse cholesterol transportGO:00436919.1CETP, APOC3, LCAT
21cellular lipid metabolic processGO:00442559.1CPT2, HADHA, HADHB
22cholesterol transportGO:00303018.9CETP, NPC1L1, APOB, LCAT
23phospholipid metabolic processGO:00066448.4ANGPTL3, HADHB, LCAT, PCSK9, HADHA
24cholesterol metabolic processGO:00082038.3APOC3, APOB, ANGPTL3, LCAT, PCSK9, CETP
25lipoprotein metabolic processGO:00421578.1PCSK9, NPC1L1, LCAT, MTTP, CETP, APOB
26cholesterol homeostasisGO:00426327.8APOB, MYLIP, ANGPTL3, CETP, LCAT, PCSK9
27small molecule metabolic processGO:00442816.9HADHB, MTTP, HADHA, APOC3, APOB, CPT2

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

Sources for Abetalipoproteinemia

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet