ABL
MCID: ABT001
MIFTS: 69

Abetalipoproteinemia (ABL)

Categories: Blood diseases, Endocrine diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Abetalipoproteinemia

MalaCards integrated aliases for Abetalipoproteinemia:

Name: Abetalipoproteinemia 56 12 24 52 25 58 73 36 13 54 43 15 71
Acanthocytosis 56 74 25 73 29 6 71
Hypobetalipoproteinemia 25 58 29 54 6
Familial Hypobetalipoproteinemia 12 52 25 71
Bassen-Kornzweig Syndrome 56 24 25 73
Abetalipoproteinaemia 25 29 6 39
Mtp Deficiency 56 52 25 73
Abl 56 52 25 73
Microsomal Triglyceride Transfer Protein Deficiency Disease 12 52 25
Microsomal Triglyceride Transfer Protein Deficiency 56 52 73
Abetalipoproteinemia Neuropathy 52 25 71
Bassen-Kornzweig Disease 52 25 58
Congenital Betalipoprotein Deficiency Syndrome 52 25
Homozygous Familial Hypobetalipoproteinemia 52 58
Betalipoprotein Deficiency Disease 52 25
Apolipoprotein B Deficiency 52 25
Fhbl 52 25
Hypobetalipoproteinemia, Familial, Apolipoprotein B 71
Hypobetalipoproteinemia, Familial 52
Bassen Kornzweig Syndrome 52
Hypobetalipoproteinemias 71

Characteristics:

Orphanet epidemiological data:

58
abetalipoproteinemia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
abetalipoproteinemia:
Inheritance autosomal recessive inheritance


GeneReviews:

24
Penetrance While 100% of individuals either homozygous or compound heterozygous for pathogenic mttp variants will have a biochemical diagnosis of abetalipoproteinemia, the penetrance of clinical symptoms is variable, increases with age, and may be incomplete [paquette et al 2016]. the disorder affects males and females equally.

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare gastroenterological diseases
Inborn errors of metabolism
Rare endocrine diseases
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:1386
OMIM 56 200100
KEGG 36 H00160
MeSH 43 D000012
NCIt 49 C84525
SNOMED-CT 67 190787008
ICD10 32 E78.6
MESH via Orphanet 44 D000012 D006995
ICD10 via Orphanet 33 E78.6
UMLS via Orphanet 72 C0000744 C0020597
Orphanet 58 ORPHA14 ORPHA31154
MedGen 41 C0000744
UMLS 71 C0000744 C0020597 C0687751 more

Summaries for Abetalipoproteinemia

Genetics Home Reference : 25 Abetalipoproteinemia is an inherited disorder that impairs the normal absorption of fats and certain vitamins from the diet. Many of the signs and symptoms of abetalipoproteinemia result from a severe shortage (deficiency) of fat-soluble vitamins (vitamins A, E, and K). The signs and symptoms of this condition primarily affect the gastrointestinal system, eyes, nervous system, and blood. The first signs and symptoms of abetalipoproteinemia appear in infancy. They often include failure to gain weight and grow at the expected rate (failure to thrive); diarrhea; and fatty, foul-smelling stools (steatorrhea). As an individual with this condition ages, additional signs and symptoms include disturbances in nerve function that may lead to poor muscle coordination and difficulty with balance and movement (ataxia). They can also experience a loss of certain reflexes, impaired speech (dysarthria), tremors or other involuntary movements (motor tics), a loss of sensation in the extremities (peripheral neuropathy), or muscle weakness. The muscle problems can disrupt skeletal development, leading to an abnormally curved lower back (lordosis), a rounded upper back that also curves to the side (kyphoscoliosis), high-arched feet (pes cavus), or an inward- and upward-turning foot (clubfoot). Individuals with this condition may also develop an eye disorder called retinitis pigmentosa, in which breakdown of the light-sensitive layer (retina) at the back of the eye can cause vision loss. In individuals with abetalipoproteinemia, the retinitis pigmentosa can result in complete vision loss. People with abetalipoproteinemia may also have other eye problems, including involuntary eye movements (nystagmus), eyes that do not look in the same direction (strabismus), and weakness of the external muscles of the eye (ophthalmoplegia). Individuals with abetalipoproteinemia usually have a low number of red blood cells (anemia) with abnormally star-shaped red blood cells (acanthocytosis) and have difficulty forming blood clots, which can cause abnormal bleeding. In some cases, a condition called fatty liver develops, which can cause liver damage.

MalaCards based summary : Abetalipoproteinemia, also known as acanthocytosis, is related to chylomicron retention disease and hypobetalipoproteinemia, familial, 2, and has symptoms including ataxia An important gene associated with Abetalipoproteinemia is MTTP (Microsomal Triglyceride Transfer Protein), and among its related pathways/superpathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The drugs Tocopherol and Vitamin E have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and retina, and related phenotypes are malabsorption and abnormality of retinal pigmentation

Disease Ontology : 12 A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has material basis in an autosomal recessive disorder of lipid metabolism that has material basis in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS.

NIH Rare Diseases : 52 Abetalipoproteinemia is a very rare condition that affects fat and vitamin absorption by the intestines and liver, leading to very low LDL-cholesterol and malnutrition. Early symptoms of this condition include diarrhea, vomiting, and poor growth. Without treatment, later complications may include muscle weakness, poor night and color vision, tremors, and speech difficulties. The long-term outcome can be difficult to predict. Abetalipoproteinemia is diagnosed based on clinical exam, laboratory tests showing abnormally low cholesterol, and confirmed by genetic testing . This condition is caused by genetic variants in the MTTP gene and is inherited in an autosomal recessive pattern. This condition has been treated with a low fat diet and vitamin supplements. Most people with abetalipoproteinemia who are treated do not develop complications.

OMIM : 56 Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL; 615558) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance, whereas obligate heterozygous parents of FBHL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance (summary by Lee and Hegele, 2014). (200100)

KEGG : 36 Abetalipoproteinemia is an autosomal recessive disorder of lipid metabolism caused by mutation of MTTP gene involved in the transport of lipids and required in the secretion of beta-lipoproteins.

UniProtKB/Swiss-Prot : 73 Abetalipoproteinemia: An autosomal recessive disorder of lipoprotein metabolism. Affected individuals produce virtually no circulating apolipoprotein B- containing lipoproteins (chylomicrons, VLDL, LDL, lipoprotein(A)). Malabsorption of the antioxidant vitamin E occurs, leading to spinocerebellar and retinal degeneration.

Wikipedia : 74 Acanthocyte (from the Greek word ἄκανθα acantha, meaning 'thorn'), in biology and medicine, refers to an... more...

GeneReviews: NBK532447

Related Diseases for Abetalipoproteinemia

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

(show top 50) (show all 1309)
# Related Disease Score Top Affiliating Genes
1 chylomicron retention disease 32.7 SAR1B MTTP APOB APOA1
2 hypobetalipoproteinemia, familial, 2 32.6 PCSK9 APOB ANGPTL3
3 mitochondrial trifunctional protein deficiency 32.2 HADHB HADHA CPT2
4 hypobetalipoproteinemia, familial, 1 31.6 SAR1B PCSK9 MTTP LGALS1 APOC2 APOB
5 myocardial infarction 31.0 PCSK9 LPL LEP LDLR LCAT CETP
6 fatty liver disease, nonalcoholic 1 30.9 MTTP LEP HADHA
7 familial lcat deficiency 30.6 LCAT APOE APOA1
8 hypoalphalipoproteinemia 30.5 LCAT APOA1
9 homozygous familial hypercholesterolemia 30.3 PCSK9 LDLR APOE APOB APOA1
10 lecithin:cholesterol acyltransferase deficiency 30.3 LPL LCAT APOE APOB APOA1
11 hypolipoproteinemia 30.1 TTPA SAR1B PCSK9 MTTP LPL LCAT
12 hypothyroidism 30.1 LPL LEP LDLR CETP APOE APOB
13 peripheral vascular disease 30.1 LCAT CETP APOB APOA1
14 hypertriglyceridemia, familial 30.1 LPL CETP APOE APOC2 APOB APOA1
15 kidney disease 30.0 LEP LCAT CETP APOE APOB APOA1
16 hyperalphalipoproteinemia 1 30.0 LPL LDLR LCAT CETP APOB APOA1
17 hypercholesterolemia, familial, 1 29.9 PCSK9 LPL LDLR LCAT CETP APOE
18 chronic kidney disease 29.9 LPL LEP LCAT CETP APOE APOB
19 diabetes mellitus, noninsulin-dependent 29.8 PCSK9 MTTP LPL LEP LDLR LCAT
20 carotid artery disease 29.8 APOE APOB APOA1
21 coronary heart disease 1 29.8 LPL LDLR LCAT CETP APOE APOB
22 non-alcoholic fatty liver disease 29.7 MTTP LPL LEP APOB APOA1
23 gallbladder disease 29.7 CETP APOE APOB APOA1
24 intermediate coronary syndrome 29.7 PCSK9 APOB APOA1
25 arteries, anomalies of 29.6 LEP APOE APOB APOA1
26 heart disease 29.4 LPL LEP LDLR CETP APOE APOB
27 hyperlipoproteinemia, type iii 29.4 LPL LDLR CETP APOE APOB APOA1
28 lipid metabolism disorder 29.3 PCSK9 MTTP LPL LEP LDLR LCAT
29 cerebrovascular disease 29.3 LPL LEP LDLR APOE APOB APOA1
30 familial hypercholesterolemia 29.3 PCSK9 MTTP LPL LDLR LCAT CETP
31 cardiovascular system disease 29.1 PCSK9 MTTP LPL LEP LDLR LCAT
32 hepatoblastoma 29.0 LDLR APOB APOA1
33 vascular disease 28.5 PCSK9 LPL LEP LDLR LCAT CETP
34 atherosclerosis susceptibility 28.2 PCSK9 LPL LEP LDLR LCAT CETP
35 diabetes mellitus 28.2 PCSK9 LPL LEP LDLR LCAT CETP
36 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration 12.7
37 choreoacanthocytosis 12.7
38 wolman disease with hypolipoproteinemia and acanthocytosis 12.4
39 leukemia, chronic myeloid 12.4
40 constitutional hemolytic anemia due to acanthocytosis 12.2
41 atypical chronic myeloid leukemia 12.2
42 mcleod syndrome 12.0
43 nguyen syndrome 11.7
44 neurodegeneration with brain iron accumulation 1 11.6
45 infertility 11.5
46 lung cancer 11.3
47 depression 11.3
48 chronic neutrophilic leukemia 11.3
49 male infertility 11.3
50 spinal cord injury 11.2

Graphical network of the top 20 diseases related to Abetalipoproteinemia:



Diseases related to Abetalipoproteinemia

Symptoms & Phenotypes for Abetalipoproteinemia

Human phenotypes related to Abetalipoproteinemia:

31 58 (show top 50) (show all 72)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malabsorption 31 hallmark (90%) HP:0002024
2 abnormality of retinal pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007703
3 ataxia 58 31 frequent (33%) Occasional (29-5%) HP:0001251
4 muscular hypotonia 31 frequent (33%) HP:0001252
5 reduced tendon reflexes 31 frequent (33%) HP:0001315
6 visual impairment 31 occasional (7.5%) HP:0000505
7 acanthocytosis 58 31 Very frequent (99-80%) HP:0001927
8 fat malabsorption 58 31 Very frequent (99-80%) HP:0002630
9 hepatomegaly 58 Occasional (29-5%)
10 blindness 58 Very rare (<4-1%)
11 hypothyroidism 58 Very rare (<4-1%)
12 failure to thrive 58 Frequent (79-30%)
13 vomiting 58 Occasional (29-5%)
14 myopathy 58 Occasional (29-5%)
15 retinopathy 31 HP:0000488
16 cardiomegaly 58 Very rare (<4-1%)
17 anemia 58 Frequent (79-30%)
18 progressive visual loss 58 Frequent (79-30%)
19 congestive heart failure 58 Very rare (<4-1%)
20 cirrhosis 58 Very rare (<4-1%)
21 myalgia 58 Frequent (79-30%)
22 osteopenia 58 Occasional (29-5%)
23 hepatic steatosis 58 Occasional (29-5%)
24 elevated hepatic transaminase 58 Occasional (29-5%)
25 ptosis 58 Very rare (<4-1%)
26 hepatic fibrosis 58 Very rare (<4-1%)
27 talipes equinovarus 58 Occasional (29-5%)
28 kyphoscoliosis 58 Occasional (29-5%)
29 ophthalmoplegia 58 Very rare (<4-1%)
30 dysarthria 58 Occasional (29-5%)
31 areflexia 58 Frequent (79-30%)
32 low levels of vitamin d 58 Frequent (79-30%)
33 dysmetria 58 Occasional (29-5%)
34 nyctalopia 58 Frequent (79-30%)
35 pes cavus 58 Occasional (29-5%)
36 chronic diarrhea 58 Frequent (79-30%)
37 abnormality of the nervous system 58 Very frequent (99-80%)
38 abnormal bleeding 58 Very rare (<4-1%)
39 steatorrhea 58 Very frequent (99-80%)
40 abnormal apolipoprotein level 58 Very frequent (99-80%)
41 low levels of vitamin e 58 Very frequent (99-80%)
42 color vision defect 58 Frequent (79-30%)
43 reticulocytosis 58 Frequent (79-30%)
44 hyperbilirubinemia 58 Frequent (79-30%)
45 hypoalbuminemia 58 Frequent (79-30%)
46 hypocholesterolemia 58 Frequent (79-30%)
47 decreased hdl cholesterol concentration 58 Frequent (79-30%)
48 decreased ldl cholesterol concentration 58 Frequent (79-30%)
49 low levels of vitamin a 58 Frequent (79-30%)
50 hypotriglyceridemia 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
retinopathy

Hematology:
acanthocytosis
burr-cells

Laboratory Abnormalities:
abetalipoproteinemia

Neurologic Central Nervous System:
ataxia

Abdomen Gastrointestinal:
fat malabsorption

Neurologic Peripheral Nervous System:
demyelination

Clinical features from OMIM:

200100

UMLS symptoms related to Abetalipoproteinemia:


ataxia

GenomeRNAi Phenotypes related to Abetalipoproteinemia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-2 9.55 CPT2
2 Decreased viability GR00221-A-4 9.55 CPT2
3 Decreased viability GR00381-A-1 9.55 LGALS1 P4HB
4 Decreased viability GR00381-A-2 9.55 LGALS1
5 Decreased viability GR00381-A-3 9.55 LGALS1
6 Decreased viability GR00386-A-1 9.55 APOB APOE CETP HADHA HADHB LGALS1
7 Decreased viability GR00402-S-2 9.55 CPT2 LCAT LDLR
8 Decreased LDL uptake GR00340-A-1 8.96 LDLR LPL
9 Decreased free cholesterol GR00340-A-2 8.85 LDLR

MGI Mouse Phenotypes related to Abetalipoproteinemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.23 ANGPTL3 APOA1 APOB APOC2 APOE CPT2
2 cardiovascular system MP:0005385 10.15 APOA1 APOB APOE CPT2 HADHA HADHB
3 growth/size/body region MP:0005378 10.1 ANGPTL3 APOB APOE DGAT1 HADHA HADHB
4 liver/biliary system MP:0005370 9.97 ANGPTL3 APOA1 APOB APOE DGAT1 HADHA
5 adipose tissue MP:0005375 9.95 ANGPTL3 APOE DGAT1 HADHB LDLR LEP
6 mortality/aging MP:0010768 9.77 ANGPTL3 APOB APOE CPT2 HADHA HADHB
7 muscle MP:0005369 9.28 APOB APOE HADHA HADHB LDLR LEP

Drugs & Therapeutics for Abetalipoproteinemia

Drugs for Abetalipoproteinemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tocopherol Approved, Investigational Phase 3 1406-66-2, 54-28-4 14986
2
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
3 Tocotrienol Investigational Phase 3 6829-55-6
4 Vitamins Phase 3
5 Tocopherols Phase 3
6 Tocotrienols Phase 3
7 Micronutrients Phase 3
8 Trace Elements Phase 3
9 Antioxidants Phase 3
10 Protective Agents Phase 3
11 Nutrients Phase 3
12
Mipomersen Approved, Investigational Phase 2 1000120-98-8
13 Hypolipidemic Agents Phase 2
14 Lipid Regulating Agents Phase 2
15 Liver Extracts Phase 2
16 Anticholesteremic Agents Phase 2
17 Antimetabolites Phase 2
18 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
19
Vitamin A Approved, Nutraceutical, Vet_approved 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
20 retinol
21 Retinol palmitate

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Study of the Absorption of Vitamin E Water-soluble Form (Pegylated) in the Familial Hypocholesterolemia With Chylomicron Retention Completed NCT01457690 Phase 3 Tocofersolan;tocopherol alpha;Tocofersolan and tocopherol alpha
2 A Phase 2, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Effect of Apolipoprotein B(ApoB) Reduction by ISIS 301012 on Liver Triglyceride Content in Subjects With Varying Degrees of Hyperlipidemia Completed NCT00362180 Phase 2 mipomersen;Placebo
3 A Randomized, Double-Blind, Placebo-Controlled Study to Assess Safety and Efficacy of ISIS 301012 Administration in High Risk Statin Intolerant Subjects Completed NCT00707746 Phase 2 mipomersen;placebo
4 Vitamin E Supplement in Patients With Cirrhosis and Acanthocytosis Completed NCT01463735 Phase 2
5 Prevalence Assessment and Characterization of Psychological Disorders Associated With Hypobetalipoproteinemia Completed NCT02889614
6 Mechanisms of Low Levels of Apolipoprotein B Completed NCT00005565
7 Vitamin Replacement in Abetalipoproteinemia Completed NCT00004574
8 Characterization of Cardiac and Skeletal Myopathy, Risk Evaluation, and Phenotype-Genotype Correlation in Patients With Neuroacanthocytosis Completed NCT00007228
9 Prevalence of fAmilial hypobetalipopRoTeinemIa in psychiaTrIc pOpulatioN Recruiting NCT03549637
10 HYPOCHOL : A Genetically-based Strategy to Identify New Targets in Cholesterol Metabolism Recruiting NCT02354079
11 Characterization of Two Novel Truncating Mutations in the Apob Gene Leading to Hypobetalipoproteinemia: A Pilot Study Recruiting NCT03963037
12 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940

Search NIH Clinical Center for Abetalipoproteinemia

Cochrane evidence based reviews: abetalipoproteinemia

Genetic Tests for Abetalipoproteinemia

Genetic tests related to Abetalipoproteinemia:

# Genetic test Affiliating Genes
1 Abetalipoproteinaemia 29 MTTP
2 Acanthocytosis 29
3 Hypobetalipoproteinemia 29

Anatomical Context for Abetalipoproteinemia

MalaCards organs/tissues related to Abetalipoproteinemia:

40
Liver, Eye, Retina, Testes, Brain, Temporal Lobe, Heart

Publications for Abetalipoproteinemia

Articles related to Abetalipoproteinemia:

(show top 50) (show all 959)
# Title Authors PMID Year
1
Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. 6 61 56 54
1439810 1992
2
Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient. 56 6 61
17275380 2007
3
Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia. 24 6 61 54
10946006 2000
4
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. 54 6 24 61
8939939 1996
5
Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia. 61 56 6
2903181 1988
6
Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. 56 24 61
24288038 2014
7
Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene. 6 54 61
10446076 1999
8
Knockout of the abetalipoproteinemia gene in mice: reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes. 56 61 54
9671739 1998
9
Microsomal triglyceride transfer protein, the abetalipoproteinemia gene product, mediates the secretion of apolipoprotein B-containing lipoproteins from heterologous cells. 61 6 54
8071315 1994
10
Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein. 56 54 61
8111381 1993
11
Abetalipoproteinemia 61 6
30358967 2018
12
Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia. 61 6
12630961 2003
13
Intestinal and hepatic apolipoprotein B gene expression in abetalipoproteinemia. 61 54 24
2065927 1991
14
Exclusion of linkage between the human apolipoprotein B gene and abetalipoproteinemia. 61 56
2339706 1990
15
Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproproteinemia at the molecular level. 61 56
2828430 1988
16
Analysis of the apolipoprotein B gene and messenger ribonucleic acid in abetalipoproteinemia. 61 56
3782476 1986
17
Epitopes of apolipoprotein B-100 and B-48 in both liver and intestine. Expression and evidence for local synthesis in recessive abetalipoproteinemia. 61 56
2429992 1986
18
Apolipoprotein B-100 deficiency. Intestinal steatosis despite apolipoprotein B-48 synthesis. 56 61
4031057 1985
19
Effect of large oral doses of vitamin E on the neurological sequelae of patients with abetalipoproteinemia. 56 61
6959555 1982
20
Abetalipoproteinemia. Report of two cases and review of therapy. 56 61
7425890 1980
21
Metabolic studies in an unusual case of asymptomatic familial hypobetalipoproteinemia with hypolphalipoproteinemia and fasting chylomicronemia. 61 56
221546 1979
22
Immunofluorescence studies of apolipoprotein B in intestinal mucosa. Absence in abetalipoproteinemia. 61 56
365664 1979
23
Liver ultrastructure in abetalipoproteinemia: Evolution of micronodular cirrhosis. 56 61
4135110 1974
24
A study of the abnormal lipoproteins in abetalipoproteinemia. 56 61
11344558 1974
25
Peroxidative hemolysis of red blood cells from patients with abetalipoproteinemia (acanthocytosis). 61 56
6023771 1967
26
DEMYELINATING CENTRAL NERVOUS SYSTEM DISEASE, MACULAR ATROPHY AND ACANTHOCYTOSIS (BASSEN-KORNZWEIG SYNDROME). 61 56
14237436 1964
27
[New case of acanthocytosis: congenital erythrocytic abnormalities with retinitis, neurological disorders & degenerative stigmata]. 61 56
13646324 1959
28
A tale of 2 cousins: An atypical and a typical case of abetalipoproteinemia. 24 61
27578136 2016
29
Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia. 61 24
24842304 2014
30
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia. 61 24
23475612 2013
31
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia. 24 61
22236406 2012
32
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 6
20050888 2010
33
Abetalipoproteinemia: two case reports and literature review. 61 24
18611256 2008
34
Persistence of the intestinal defect in abetalipoproteinaemia after liver transplantation. 56
9686820 1998
35
Neurologic findings in vitamin E deficiency. 61 24
9012278 1997
36
Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia. 56
8361539 1993
37
Structure of the human apolipoprotein B gene. 56
2946672 1986
38
Molecular cloning and expression of partial cDNAs and deduced amino acid sequence of a carboxyl-terminal fragment of human apolipoprotein B-100. 56
2932736 1985
39
Human apolipoprotein B cDNA clone isolation and demonstration that liver apolipoprotein B mRNA is 22 kilobases in length. 56
2995989 1985
40
The role of vitamin E in the treatment of the neurological features of abetalipoproteinaemia and other disorders of fat absorption. 56
3930848 1985
41
Ocular abnormalities in abetalipoproteinemia. A clinicopathologic correlation. 61 24
6493710 1984
42
Plasma lipoproteins in familial combined hyperlipidemia and monogenic familial hypertriglyceridemia. 56
6403642 1983
43
Spinocerebellar degeneration secondary to chronic intestinal malabsorption: a vitamin E deficiency syndrome. 56
7181449 1982
44
Association of coronary atherosclerosis with hyperapobetalipoproteinemia [increased protein but normal cholesterol levels in human plasma low density (beta) lipoproteins]. 56
6928647 1980
45
Long-term management of abetalipoproteinaemia. Possible role for vitamin E. 56
848999 1977
46
The cardiac lesions in Bassen-Kornzweig syndrome. Report of a case, with autopsy findings. 56
5477641 1970
47
CONGENITAL BETA-LIPOPROTEIN DEFICIENCY: AN HEREDITARY DISORDER INVOLVING A DEFECT IN THE ABSORPTION AND TRANSPORT OF LIPIDS. 56
14168744 1964
48
Acanthrocytosis, pigmentary degeneration of the retina and ataxic neuropathy: a genetically determined syndrome and associated metabolic disorder. 56
13770408 1960
49
Acanthrocytosis; a genetic erythrocytic malformation. 56
14925152 1952
50
Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. 56
15411425 1950

Variations for Abetalipoproteinemia

ClinVar genetic disease variations for Abetalipoproteinemia:

6 (show top 50) (show all 229) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 APOB NM_000384.3(APOB):c.10238del (p.Thr3413fs)deletion Pathogenic 434252 rs756209187 2:21229502-21229502 2:21006630-21006630
2 MTTP NM_000253.3(MTTP):c.704_705CA[2] (p.His236fs)short repeat Pathogenic 435905 rs1553926818 4:100512892-100512893 4:99591735-99591736
3 MTTP NM_000253.3(MTTP):c.1304T>A (p.Leu435His)SNV Pathogenic 627621 rs1560621495 4:100522831-100522831 4:99601674-99601674
4 MTTP NM_000253.3(MTTP):c.2237G>A (p.Gly746Glu)SNV Pathogenic 627620 rs767833468 4:100540150-100540150 4:99618993-99618993
5 MTTP NM_000253.3(MTTP):c.215del (p.Pro72fs)deletion Pathogenic 14234 rs1560614154 4:100503214-100503214 4:99582057-99582057
6 MTTP NM_000253.3(MTTP):c.1783C>T (p.Arg595Ter)SNV Pathogenic 14235 rs199422219 4:100532313-100532313 4:99611156-99611156
7 MTTP MTTP, IVS, G-A, +5SNV Pathogenic 14236
8 MTTP NM_001300785.1(MTTP):c.1318-1G>ASNV Pathogenic 14237 rs1560621444 4:100522763-100522763 4:99601606-99601606
9 MTTP NM_000253.3(MTTP):c.1619G>A (p.Arg540His)SNV Pathogenic 14238 rs199422220 4:100529984-100529984 4:99608827-99608827
10 MTTP MTTP, EXON 10 DELdeletion Pathogenic 14239
11 MTTP NM_000253.3(MTTP):c.2338A>T (p.Asn780Tyr)SNV Pathogenic 14240 rs199422221 4:100540251-100540251 4:99619094-99619094
12 MTTP NM_000253.3(MTTP):c.1769G>T (p.Ser590Ile)SNV Pathogenic 14241 rs199422222 4:100530134-100530134 4:99608977-99608977
13 MTTP NM_000253.3(MTTP):c.2593G>T (p.Gly865Ter)SNV Pathogenic 14243 rs146064714 4:100543913-100543913 4:99622756-99622756
14 MTTP NM_000253.3(MTTP):c.307A>T (p.Lys103Ter)SNV Pathogenic/Likely pathogenic 633321 rs1560614646 4:100504588-100504588 4:99583431-99583431
15 MTTP NM_000253.3(MTTP):c.1558-2A>GSNV Likely pathogenic 557836 rs1553927840 4:100529921-100529921 4:99608764-99608764
16 APOB NM_000384.3(APOB):c.11812_11813del (p.Asp3938fs)deletion Likely pathogenic 434251 rs1553382678 2:21227523-21227524 2:21004651-21004652
17 MTTP NM_000253.3(MTTP):c.2212del (p.Ser738fs)deletion Likely pathogenic 495776 rs755681036 4:100534291-100534291 4:99613134-99613134
18 APOB NM_000384.3(APOB):c.13025del (p.Pro4342fs)deletion Likely pathogenic 210222 rs797045253 2:21225269-21225269 2:21002397-21002397
19 APOB NM_000384.3(APOB):c.631C>T (p.Gln211Ter)SNV Likely pathogenic 228245 rs143301836 2:21260034-21260034 2:21037162-21037162
20 APOB NM_000384.3(APOB):c.2988_2994del (p.Gly997fs)deletion Likely pathogenic 374255 rs1057518647 2:21242600-21242606 2:21019728-21019734
21 MTTP NM_000253.3(MTTP):c.1023A>G (p.Lys341=)SNV Conflicting interpretations of pathogenicity 347033 rs145724674 4:100518337-100518337 4:99597180-99597180
22 MTTP NM_000253.3(MTTP):c.-6G>ASNV Conflicting interpretations of pathogenicity 347018 rs41275707 4:100496061-100496061 4:99574904-99574904
23 MTTP NM_000253.3(MTTP):c.394-7C>TSNV Conflicting interpretations of pathogenicity 347022 rs368989581 4:100510793-100510793 4:99589636-99589636
24 PCSK9 NM_174936.3(PCSK9):c.2022C>T (p.Ala674=)SNV Conflicting interpretations of pathogenicity 297709 rs886046436 1:55529200-55529200 1:55063527-55063527
25 PCSK9 NM_174936.3(PCSK9):c.*171C>TSNV Conflicting interpretations of pathogenicity 297716 rs557622245 1:55529428-55529428 1:55063755-55063755
26 MTTP NM_000253.3(MTTP):c.799T>C (p.Leu267=)SNV Conflicting interpretations of pathogenicity 347028 rs7672497 4:100515930-100515930 4:99594773-99594773
27 MTTP NM_000253.3(MTTP):c.2657C>T (p.Pro886Leu)SNV Conflicting interpretations of pathogenicity 347046 rs144600401 4:100543977-100543977 4:99622820-99622820
28 PCSK9 NM_174936.3(PCSK9):c.720C>T (p.Gly240=)SNV Conflicting interpretations of pathogenicity 242028 rs41297883 1:55518385-55518385 1:55052712-55052712
29 PCSK9 NM_174936.3(PCSK9):c.141C>T (p.Ser47=)SNV Conflicting interpretations of pathogenicity 262902 rs28385701 1:55505651-55505651 1:55039978-55039978
30 MTTP NM_000253.3(MTTP):c.419A>G (p.Asn140Ser)SNV Conflicting interpretations of pathogenicity 197648 rs61733140 4:100510825-100510825 4:99589668-99589668
31 PCSK9 NM_174936.3(PCSK9):c.1405C>T (p.Arg469Trp)SNV Conflicting interpretations of pathogenicity 201128 rs141502002 1:55524222-55524222 1:55058549-55058549
32 SLC4A1 NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu)SNV Conflicting interpretations of pathogenicity 17783 rs121912759 17:42328579-42328579 17:44251211-44251211
33 APOB NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)SNV Conflicting interpretations of pathogenicity 17890 rs5742904 2:21229160-21229160 2:21006288-21006288
34 PCSK9 NM_174936.3(PCSK9):c.1864-13C>TSNV Conflicting interpretations of pathogenicity 548106 rs147470944 1:55529029-55529029 1:55063356-55063356
35 PCSK9 NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp)SNV Conflicting interpretations of pathogenicity 201129 rs374603772 1:55524303-55524303 1:55058630-55058630
36 PCSK9 NM_174936.3(PCSK9):c.657+9G>ASNV Conflicting interpretations of pathogenicity 262906 rs11800243 1:55518093-55518093 1:55052420-55052420
37 PCSK9 NM_174936.3(PCSK9):c.753C>T (p.Arg251=)SNV Conflicting interpretations of pathogenicity 262907 rs28385710 1:55518418-55518418 1:55052745-55052745
38 PCSK9 NM_174936.3(PCSK9):c.-245G>TSNV Conflicting interpretations of pathogenicity 265912 rs28362201 1:55505266-55505266 1:55039593-55039593
39 PCSK9 NM_174936.3(PCSK9):c.705C>T (p.Ser235=)SNV Conflicting interpretations of pathogenicity 265932 rs7552471 1:55518370-55518370 1:55052697-55052697
40 PCSK9 NM_174936.3(PCSK9):c.709C>T (p.Arg237Trp)SNV Conflicting interpretations of pathogenicity 265933 rs148195424 1:55518374-55518374 1:55052701-55052701
41 PCSK9 NM_174936.3(PCSK9):c.1399C>G (p.Pro467Ala)SNV Conflicting interpretations of pathogenicity 265944 rs772677312 1:55524216-55524216 1:55058543-55058543
42 PCSK9 NM_174936.3(PCSK9):c.*75C>TSNV Conflicting interpretations of pathogenicity 265950 rs28362287 1:55529332-55529332 1:55063659-55063659
43 MTTP NM_000253.3(MTTP):c.2433G>C (p.Leu811Phe)SNV Conflicting interpretations of pathogenicity 285288 rs144590904 4:100542308-100542308 4:99621151-99621151
44 MTTP NM_000253.3(MTTP):c.2025C>T (p.Ile675=)SNV Conflicting interpretations of pathogenicity 289462 rs79023226 4:100534105-100534105 4:99612948-99612948
45 PCSK9 NM_174936.3(PCSK9):c.399+4A>GSNV Conflicting interpretations of pathogenicity 297694 rs376653409 1:55509711-55509711 1:55044038-55044038
46 PCSK9 NM_174936.3(PCSK9):c.1026A>G (p.Gln342=)SNV Conflicting interpretations of pathogenicity 262899 rs509504 1:55523033-55523033 1:55057360-55057360
47 PCSK9 NM_174936.3(PCSK9):c.1327G>A (p.Ala443Thr)SNV Conflicting interpretations of pathogenicity 262900 rs28362263 1:55523855-55523855 1:55058182-55058182
48 PCSK9 NM_174936.3(PCSK9):c.94G>A (p.Glu32Lys)SNV Conflicting interpretations of pathogenicity 297692 rs564427867 1:55505604-55505604 1:55039931-55039931
49 PCSK9 NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser)SNV Conflicting interpretations of pathogenicity 297699 rs28362261 1:55523802-55523802 1:55058129-55058129
50 PCSK9 NM_174936.3(PCSK9):c.1929C>T (p.His643=)SNV Conflicting interpretations of pathogenicity 510674 rs145770391 1:55529107-55529107 1:55063434-55063434

UniProtKB/Swiss-Prot genetic disease variations for Abetalipoproteinemia:

73
# Symbol AA change Variation ID SNP ID
1 MTTP p.Arg540His VAR_010642 rs199422220
2 MTTP p.Ser590Ile VAR_010643 rs199422222
3 MTTP p.Gly746Glu VAR_010644 rs767833468
4 MTTP p.Asn780Tyr VAR_014019 rs199422221
5 MTTP p.Asp169Val VAR_074553
6 MTTP p.Leu435His VAR_074555
7 MTTP p.Tyr528His VAR_074556 rs148537513
8 MTTP p.Arg540Cys VAR_074557 rs372321643

Expression for Abetalipoproteinemia

Search GEO for disease gene expression data for Abetalipoproteinemia.

Pathways for Abetalipoproteinemia

Pathways related to Abetalipoproteinemia according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 SAR1B PCSK9 P4HB MTTP LPL LDLR
2
Show member pathways
12.72 LPL LEP HADHB HADHA DGAT1 CPT2
3
Show member pathways
12.52 LPL LDLR APOE APOC2 APOB APOA1
4
Show member pathways
12.29 HADHB HADHA DGAT1 CPT2
5
Show member pathways
12.11 LDLR APOE APOB APOA1
6
Show member pathways
12.06 LPL LDLR APOE APOC2 APOB APOA1
7
Show member pathways
11.97 SAR1B PCSK9 P4HB MTTP LPL LDLR
8
Show member pathways
11.81 PCSK9 MTTP LPL LDLR LCAT DGAT1
9
Show member pathways
11.74 APOE APOB APOA1
10 11.59 LPL CPT2 APOA1
11 11.53 SAR1B LPL LDLR
12
Show member pathways
11.39 LPL HADHB HADHA CPT2
13
Show member pathways
11.29 MTTP DGAT1 APOB APOA1
14
Show member pathways
10.86 HADHB HADHA
15
Show member pathways
10.51 HADHB HADHA
16
Show member pathways
10.23 PCSK9 LDLR

GO Terms for Abetalipoproteinemia

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.23 PCSK9 P4HB LPL LGALS1 LEP LCAT
2 extracellular space GO:0005615 10.17 PCSK9 LPL LGALS1 LEP LCAT CETP
3 endoplasmic reticulum GO:0005783 10.15 SAR1B PCSK9 P4HB MTTP HADHB DGAT1
4 cell surface GO:0009986 10.01 PCSK9 LPL LGALS1 LDLR APOA1 ANGPTL3
5 endoplasmic reticulum lumen GO:0005788 9.95 PCSK9 P4HB MTTP LGALS1 APOE APOB
6 early endosome GO:0005769 9.91 PCSK9 LDLR APOE APOC2 APOB APOA1
7 clathrin-coated endocytic vesicle membrane GO:0030669 9.69 LDLR APOE APOB
8 endocytic vesicle lumen GO:0071682 9.65 APOE APOB APOA1
9 very-low-density lipoprotein particle GO:0034361 9.65 LPL APOE APOC2 APOB APOA1
10 intermediate-density lipoprotein particle GO:0034363 9.62 APOE APOC2 APOB APOA1
11 endolysosome membrane GO:0036020 9.57 PCSK9 LDLR
12 spherical high-density lipoprotein particle GO:0034366 9.56 APOC2 APOA1
13 low-density lipoprotein particle GO:0034362 9.55 LDLR APOE APOC2 APOB APOA1
14 discoidal high-density lipoprotein particle GO:0034365 9.52 APOE APOA1
15 PCSK9-LDLR complex GO:1990666 9.49 PCSK9 LDLR
16 chylomicron GO:0042627 9.35 LPL APOE APOC2 APOB APOA1
17 high-density lipoprotein particle GO:0034364 9.1 LCAT CETP APOE APOC2 APOB APOA1

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

(show top 50) (show all 68)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 10.12 PCSK9 P4HB LGALS1 APOE APOB APOA1
2 cellular protein metabolic process GO:0044267 10.1 PCSK9 P4HB LGALS1 APOE APOB APOA1
3 response to drug GO:0042493 10.08 LPL LGALS1 HADHA APOC2 APOA1
4 lipid transport GO:0006869 10.08 MTTP LDLR CETP APOE APOC2 APOB
5 steroid metabolic process GO:0008202 10.07 PCSK9 LDLR LCAT CETP APOE APOB
6 fatty acid metabolic process GO:0006631 10.05 LPL HADHB HADHA CPT2 ANGPTL3
7 receptor-mediated endocytosis GO:0006898 10 LDLR APOE APOB APOA1
8 phospholipid metabolic process GO:0006644 10 PCSK9 LPL LCAT APOA1 ANGPTL3
9 retinoid metabolic process GO:0001523 9.99 LPL APOE APOC2 APOB APOA1
10 cholesterol transport GO:0030301 9.95 LDLR LCAT CETP APOB APOA1
11 intermembrane lipid transfer GO:0120009 9.95 TTPA MTTP CETP APOE APOB APOA1
12 fatty acid beta-oxidation GO:0006635 9.93 LEP HADHB HADHA CPT2
13 phospholipid transport GO:0015914 9.93 MTTP LDLR CETP APOA1
14 triglyceride metabolic process GO:0006641 9.93 PCSK9 MTTP LPL DGAT1 CETP APOE
15 artery morphogenesis GO:0048844 9.91 LDLR APOE APOB ANGPTL3
16 cholesterol efflux GO:0033344 9.91 APOE APOC2 APOB APOA1
17 reverse cholesterol transport GO:0043691 9.91 LCAT CETP APOE APOC2 APOA1
18 triglyceride homeostasis GO:0070328 9.91 LPL CETP APOE APOC2 APOA1 ANGPTL3
19 response to nutrient GO:0007584 9.9 TTPA LEP APOA1
20 high-density lipoprotein particle remodeling GO:0034375 9.89 LCAT CETP APOE APOC2 APOA1
21 very-low-density lipoprotein particle assembly GO:0034379 9.88 P4HB MTTP DGAT1 APOB
22 high-density lipoprotein particle clearance GO:0034384 9.88 LDLR APOE APOC2 APOA1
23 chylomicron remnant clearance GO:0034382 9.87 LDLR APOE APOC2 APOB
24 lipid homeostasis GO:0055088 9.86 CETP APOE ANGPTL3
25 lipoprotein biosynthetic process GO:0042158 9.86 LCAT APOE APOB APOA1
26 lipid storage GO:0019915 9.85 DGAT1 APOA1 ANGPTL3
27 lipoprotein metabolic process GO:0042157 9.85 PCSK9 MTTP LDLR APOE APOB APOA1
28 low-density lipoprotein particle clearance GO:0034383 9.84 PCSK9 LDLR APOB
29 phosphatidylcholine metabolic process GO:0046470 9.84 LCAT CETP APOA1
30 lipoprotein transport GO:0042953 9.83 MTTP APOC2 APOB
31 low-density lipoprotein particle remodeling GO:0034374 9.83 CETP APOE APOB
32 phospholipid homeostasis GO:0055091 9.82 CETP APOA1 ANGPTL3
33 phospholipid efflux GO:0033700 9.81 APOE APOC2 APOA1
34 cholesterol metabolic process GO:0008203 9.81 PCSK9 LEP LDLR LCAT CETP APOE
35 chylomicron remodeling GO:0034371 9.8 LPL APOE APOC2 APOB APOA1
36 chylomicron assembly GO:0034378 9.8 P4HB MTTP APOE APOC2 APOB APOA1
37 lipoprotein catabolic process GO:0042159 9.79 LDLR APOE APOB
38 triglyceride biosynthetic process GO:0019432 9.74 LPL DGAT1
39 positive regulation of cholesterol efflux GO:0010875 9.74 APOE APOA1
40 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.74 LPL APOB
41 fatty acid homeostasis GO:0055089 9.74 DGAT1 APOE
42 positive regulation of lipid biosynthetic process GO:0046889 9.73 APOE APOA1
43 regulation of cholesterol metabolic process GO:0090181 9.73 LDLR APOE
44 positive regulation of fatty acid biosynthetic process GO:0045723 9.73 APOC2 APOA1
45 high-density lipoprotein particle assembly GO:0034380 9.73 APOE APOA1
46 positive regulation of lipid storage GO:0010884 9.73 LPL APOB
47 positive regulation of lipoprotein lipase activity GO:0051006 9.73 APOC2 APOA1
48 very-low-density lipoprotein particle remodeling GO:0034372 9.73 LPL LCAT CETP APOE APOC2 APOA1
49 response to dietary excess GO:0002021 9.72 LEP APOE
50 regulation of protein metabolic process GO:0051246 9.72 LDLR APOE

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.93 LPL LEP APOE APOA1 ANGPTL3
2 transferase activity, transferring acyl groups GO:0016746 9.8 LCAT HADHB DGAT1 CPT2
3 phospholipid binding GO:0005543 9.78 APOE APOB APOA1
4 heparin binding GO:0008201 9.78 LPL APOE APOB ANGPTL3
5 amyloid-beta binding GO:0001540 9.75 LDLR APOE APOA1
6 lipid binding GO:0008289 9.73 TTPA MTTP CETP APOE APOC2 APOA1
7 low-density lipoprotein particle binding GO:0030169 9.6 PCSK9 LDLR
8 heparan sulfate proteoglycan binding GO:0043395 9.59 LPL APOE
9 phospholipid transporter activity GO:0005548 9.58 MTTP CETP
10 enoyl-CoA hydratase activity GO:0004300 9.57 HADHB HADHA
11 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.56 HADHB HADHA
12 acetyl-CoA C-acyltransferase activity GO:0003988 9.55 HADHB HADHA
13 low-density lipoprotein particle receptor binding GO:0050750 9.54 PCSK9 APOE APOB
14 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.52 APOE APOA1
15 lipase inhibitor activity GO:0055102 9.51 APOC2 APOA1
16 apolipoprotein binding GO:0034185 9.5 PCSK9 MTTP LPL
17 very-low-density lipoprotein particle receptor binding GO:0070326 9.46 PCSK9 APOE
18 apolipoprotein receptor binding GO:0034190 9.43 PCSK9 APOA1
19 triglyceride binding GO:0017129 9.4 LPL CETP
20 lipoprotein particle binding GO:0071813 9.33 LPL APOE APOA1
21 lipid transporter activity GO:0005319 9.26 MTTP APOE APOB APOA1
22 intermembrane cholesterol transfer activity GO:0120020 8.92 CETP APOE APOB APOA1

Sources for Abetalipoproteinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....