ABL
MCID: ABT001
MIFTS: 67

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 83123000
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 thyroid, and related phenotypes are malabsorption and ataxia

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 condition characterized by the inability 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 thrive ; diarrhea; acanthocytosis ; and stool abnormalities. Other features develop later in childhood and often impair the function of the nervous system, potentially causing slower intellectual development; poor muscle coordination; progressive ataxia ; and an eye disorder called retinitis pigmentosa . Most of the symptoms are due to defects in the absorption and transport of vitamin E . Abetalipoproteinemia is caused by mutations in the MTTP gene and is inherited in an autosomal recessive manner. Early diagnosis, high-dose vitamin E therapy, and medium-chain fatty acid supplements may slow the progression of the nervous system abnormalities. Long-term outlook is reasonably good for most affected people who are diagnosed early. If left untreated, the condition can result in early death.

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 ?????? acantha, meaning 'thorn'), in biology and medicine, refers to a... 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 32.4 PCSK9 APOB ANGPTL3
3 hypobetalipoproteinemia, familial, 1 32.0 SAR1B PCSK9 MTTP APOB APOA1 ANGPTL3
4 mitochondrial trifunctional protein deficiency 31.9 HADHB HADHA
5 fatty liver disease, nonalcoholic 1 30.9 MTTP LEP HADHA
6 myocardial infarction 30.8 PCSK9 LPL LEP LDLR LCAT CETP
7 familial lcat deficiency 30.6 LCAT APOE APOA1
8 hypoalphalipoproteinemia 30.6 LCAT APOA1
9 hypertriglyceridemia, familial 30.5 LPL CETP APOE APOB APOA1
10 lecithin:cholesterol acyltransferase deficiency 30.3 LPL LCAT APOE APOB APOA1
11 hypolipoproteinemia 30.2 TTPA SAR1B PCSK9 MTTP LPL LCAT
12 homozygous familial hypercholesterolemia 30.1 PCSK9 LDLR APOE APOB APOA1
13 peripheral vascular disease 30.1 LCAT CETP APOB APOA1
14 diabetes mellitus, noninsulin-dependent 30.1 PCSK9 MTTP LPL LEP LDLR LCAT
15 carotid artery disease 29.9 APOE APOB APOA1
16 hypothyroidism 29.8 LPL LEP LDLR CETP BGLAP APOE
17 kidney disease 29.8 LEP LCAT CETP BGLAP APOE APOB
18 non-alcoholic fatty liver disease 29.8 MTTP LPL LEP APOB APOA1
19 hyperalphalipoproteinemia 1 29.7 LPL LDLR LCAT CETP APOE APOB
20 coronary heart disease 1 29.7 LPL LDLR LCAT CETP APOE APOB
21 gallbladder disease 29.7 CETP APOE APOB APOA1
22 hypercholesterolemia, familial, 1 29.7 PCSK9 LPL LDLR LCAT CETP APOE
23 chronic kidney disease 29.7 LPL LEP LCAT CETP BGLAP APOE
24 arteries, anomalies of 29.6 LEP CETP APOE APOB APOA1
25 intermediate coronary syndrome 29.6 PCSK9 APOB APOA1
26 familial hypercholesterolemia 29.4 PCSK9 MTTP LPL LDLR LCAT CETP
27 diabetes mellitus, insulin-dependent 29.4 LEP CETP BGLAP APOB APOA1
28 heart disease 29.3 LPL LEP LDLR CETP APOE APOB
29 respiratory failure 29.3 HADHB HADHA CPT2 ANPEP
30 hyperlipoproteinemia, type iii 29.3 LPL LDLR CETP APOE APOB APOA1
31 cerebrovascular disease 29.2 LPL LEP LDLR APOE APOB APOA1
32 lipid metabolism disorder 29.1 PCSK9 MTTP LPL LEP LDLR LCAT
33 diabetes mellitus 29.1 LPL LEP LCAT CETP BGLAP APOE
34 cardiovascular system disease 28.9 PCSK9 MTTP LPL LEP LDLR LCAT
35 vascular disease 28.7 PCSK9 LPL LEP LDLR LCAT CETP
36 atherosclerosis susceptibility 27.9 PCSK9 LPL LEP LDLR LCAT CETP
37 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration 12.7
38 choreoacanthocytosis 12.6
39 wolman disease with hypolipoproteinemia and acanthocytosis 12.4
40 leukemia, chronic myeloid 12.4
41 constitutional hemolytic anemia due to acanthocytosis 12.2
42 atypical chronic myeloid leukemia 12.2
43 mcleod syndrome 12.0
44 nguyen syndrome 11.7
45 neurodegeneration with brain iron accumulation 1 11.6
46 infertility 11.5
47 lung cancer 11.3
48 depression 11.3
49 chronic neutrophilic leukemia 11.3
50 male infertility 11.3

Graphical network of the top 20 diseases related to Abetalipoproteinemia:



Diseases related to Abetalipoproteinemia

Symptoms & Phenotypes for Abetalipoproteinemia

Human phenotypes related to Abetalipoproteinemia:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malabsorption 58 31 hallmark (90%) Very frequent (99-80%) HP:0002024
2 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
3 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
4 abnormality of retinal pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007703
5 reduced tendon reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001315
6 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
7 retinal degeneration 31 HP:0000546
8 retinopathy 31 HP:0000488
9 abnormality of movement 58 Frequent (79-30%)
10 peripheral demyelination 31 HP:0011096
11 fat malabsorption 31 HP:0002630
12 acanthocytosis 31 HP:0001927
13 cns demyelination 31 HP:0007305
14 abetalipoproteinemia 31 HP:0008181

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
ataxia

Abdomen Gastrointestinal:
fat malabsorption

Laboratory Abnormalities:
abetalipoproteinemia

Head And Neck Eyes:
retinopathy

Hematology:
acanthocytosis
burr-cells

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 free cholesterol GR00340-A-2 9.5 APOA1 APOB APOE CETP LDLR LPL
2 Increased LDL uptake GR00340-A-1 8.92 APOA1 APOE LDLR LPL

MGI Mouse Phenotypes related to Abetalipoproteinemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.07 ANPEP APOA1 APOB APOE CPT2 HADHA
2 homeostasis/metabolism MP:0005376 10.06 ANGPTL3 APOA1 APOB APOE CPT2 HADHA
3 liver/biliary system MP:0005370 9.73 ANGPTL3 APOA1 APOB APOE HADHA HADHB
4 muscle MP:0005369 9.23 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 Nutrients Phase 3
6 Tocopherols Phase 3
7 Tocotrienols Phase 3
8 Trace Elements Phase 3
9 Micronutrients Phase 3
10 Antioxidants Phase 3
11 Protective Agents Phase 3
12
Mipomersen Approved, Investigational Phase 2 1000120-98-8
13 Anticholesteremic Agents Phase 2
14 Hypolipidemic Agents Phase 2
15 Liver Extracts Phase 2
16 Lipid Regulating Agents Phase 2
17 Antimetabolites Phase 2
18 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
19
Vitamin A Approved, Nutraceutical, Vet_approved 68-26-8, 11103-57-4, 22737-96-8 445354 9904001
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, Thyroid, Brain, Bone, T Cells, Heart

Publications for Abetalipoproteinemia

Articles related to Abetalipoproteinemia:

(show top 50) (show all 948)
# Title Authors PMID Year
1
Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. 54 61 56 6
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. 61 56 6
17275380 2007
3
Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia. 54 61 24 6
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 61 24 6
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. 61 24 56
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. 54 61 6
10446076 1999
8
Knockout of the abetalipoproteinemia gene in mice: reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes. 54 61 56
9671739 1998
9
Microsomal triglyceride transfer protein, the abetalipoproteinemia gene product, mediates the secretion of apolipoprotein B-containing lipoproteins from heterologous cells. 54 61 6
8071315 1994
10
Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein. 54 61 56
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. 54 61 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. 61 56
4031057 1985
19
Effect of large oral doses of vitamin E on the neurological sequelae of patients with abetalipoproteinemia. 61 56
6959555 1982
20
Abetalipoproteinemia. Report of two cases and review of therapy. 61 56
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. 61 56
4135110 1974
24
A study of the abnormal lipoproteins in abetalipoproteinemia. 61 56
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. 61 24
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. 61 24
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 91) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MTTP NM_000253.3(MTTP):c.215del (p.Pro72fs)deletion Pathogenic 14234 rs1560614154 4:100503214-100503214 4:99582057-99582057
2 MTTP NM_000253.3(MTTP):c.1783C>T (p.Arg595Ter)SNV Pathogenic 14235 rs199422219 4:100532313-100532313 4:99611156-99611156
3 MTTP MTTP, IVS, G-A, +5SNV Pathogenic 14236
4 MTTP NM_000253.3(MTTP):c.1237-1G>ASNV Pathogenic 14237 rs1560621444 4:100522763-100522763 4:99601606-99601606
5 MTTP NM_000253.3(MTTP):c.1619G>A (p.Arg540His)SNV Pathogenic 14238 rs199422220 4:100529984-100529984 4:99608827-99608827
6 MTTP MTTP, EXON 10 DELdeletion Pathogenic 14239
7 MTTP NM_000253.3(MTTP):c.2338A>T (p.Asn780Tyr)SNV Pathogenic 14240 rs199422221 4:100540251-100540251 4:99619094-99619094
8 MTTP NM_000253.3(MTTP):c.1769G>T (p.Ser590Ile)SNV Pathogenic 14241 rs199422222 4:100530134-100530134 4:99608977-99608977
9 MTTP NM_000253.3(MTTP):c.2593G>T (p.Gly865Ter)SNV Pathogenic 14243 rs146064714 4:100543913-100543913 4:99622756-99622756
10 APOB NM_000384.3(APOB):c.10238del (p.Thr3413fs)deletion Pathogenic 434252 rs756209187 2:21229502-21229502 2:21006630-21006630
11 MTTP NM_000253.3(MTTP):c.704_705CA[2] (p.His236fs)short repeat Pathogenic 435905 rs1553926818 4:100512892-100512893 4:99591735-99591736
12 MTTP NM_000253.3(MTTP):c.1304T>A (p.Leu435His)SNV Pathogenic 627621 rs1560621495 4:100522831-100522831 4:99601674-99601674
13 MTTP NM_000253.3(MTTP):c.2237G>A (p.Gly746Glu)SNV Pathogenic 627620 rs767833468 4:100540150-100540150 4:99618993-99618993
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.2988_2994del (p.Gly997fs)deletion Likely pathogenic 374255 rs1057518647 2:21242600-21242606 2:21019728-21019734
17 APOB NM_000384.3(APOB):c.11812_11813del (p.Asp3938fs)deletion Likely pathogenic 434251 rs1553382678 2:21227523-21227524 2:21004651-21004652
18 MTTP NM_000253.3(MTTP):c.2212del (p.Ser738fs)deletion Likely pathogenic 495776 rs755681036 4:100534291-100534291 4:99613134-99613134
19 APOB NM_000384.3(APOB):c.13025del (p.Pro4342fs)deletion Likely pathogenic 210222 rs797045253 2:21225269-21225269 2:21002397-21002397
20 APOB NM_000384.3(APOB):c.631C>T (p.Gln211Ter)SNV Likely pathogenic 228245 rs143301836 2:21260034-21260034 2:21037162-21037162
21 SLC4A1 NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu)SNV Conflicting interpretations of pathogenicity 17783 rs121912759 17:42328579-42328579 17:44251211-44251211
22 APOB NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)SNV Conflicting interpretations of pathogenicity 17890 rs5742904 2:21229160-21229160 2:21006288-21006288
23 MTTP NM_000253.3(MTTP):c.2433G>C (p.Leu811Phe)SNV Conflicting interpretations of pathogenicity 285288 rs144590904 4:100542308-100542308 4:99621151-99621151
24 MTTP NM_000253.3(MTTP):c.1981G>A (p.Gly661Ser)SNV Conflicting interpretations of pathogenicity 347040 rs113337987 4:100532602-100532602 4:99611445-99611445
25 MTTP NM_000253.3(MTTP):c.490A>G (p.Thr164Ala)SNV Conflicting interpretations of pathogenicity 347023 rs563558722 4:100510896-100510896 4:99589739-99589739
26 MTTP NM_000253.3(MTTP):c.502G>A (p.Val168Ile)SNV Conflicting interpretations of pathogenicity 347025 rs61750974 4:100512392-100512392 4:99591235-99591235
27 MTTP NM_000253.3(MTTP):c.799T>C (p.Leu267=)SNV Conflicting interpretations of pathogenicity 347028 rs7672497 4:100515930-100515930 4:99594773-99594773
28 MTTP NM_000253.3(MTTP):c.2657C>T (p.Pro886Leu)SNV Conflicting interpretations of pathogenicity 347046 rs144600401 4:100543977-100543977 4:99622820-99622820
29 MTTP NM_000253.3(MTTP):c.394-7C>TSNV Conflicting interpretations of pathogenicity 347022 rs368989581 4:100510793-100510793 4:99589636-99589636
30 MTTP NM_000253.3(MTTP):c.2043G>A (p.Glu681=)SNV Conflicting interpretations of pathogenicity 347042 rs145444300 4:100534123-100534123 4:99612966-99612966
31 MTTP NM_000253.3(MTTP):c.1023A>G (p.Lys341=)SNV Conflicting interpretations of pathogenicity 347033 rs145724674 4:100518337-100518337 4:99597180-99597180
32 MTTP NM_000253.3(MTTP):c.*1044G>TSNV Uncertain significance 347061 rs886058965 4:100545049-100545049 4:99623892-99623892
33 DNMT1 NM_001130823.3(DNMT1):c.2718C>G (p.Phe906Leu)SNV Uncertain significance 373927 rs1057518774 19:10259562-10259562 19:10148886-10148886
34 MTTP NM_000253.3(MTTP):c.1016C>A (p.Ala339Glu)SNV Uncertain significance 518350 rs137956833 4:100518330-100518330 4:99597173-99597173
35 MTTP NM_000253.3(MTTP):c.1769+3A>GSNV Uncertain significance 347036 rs375993709 4:100530137-100530137 4:99608980-99608980
36 MTTP NM_000253.3(MTTP):c.2513+13G>ASNV Uncertain significance 347044 rs148073215 4:100542401-100542401 4:99621244-99621244
37 MTTP NM_000253.3(MTTP):c.*517A>TSNV Uncertain significance 347057 rs886058964 4:100544522-100544522 4:99623365-99623365
38 MTTP NM_000253.3(MTTP):c.660T>C (p.Tyr220=)SNV Uncertain significance 347026 rs113557405 4:100512849-100512849 4:99591692-99591692
39 MTTP NM_000253.3(MTTP):c.833A>G (p.Lys278Arg)SNV Uncertain significance 347029 rs886058957 4:100515964-100515964 4:99594807-99594807
40 MTTP NM_000253.3(MTTP):c.901T>C (p.Cys301Arg)SNV Uncertain significance 347030 rs759706918 4:100516032-100516032 4:99594875-99594875
41 MTTP NM_000253.3(MTTP):c.*41A>GSNV Uncertain significance 347047 rs886058959 4:100544046-100544046 4:99622889-99622889
42 MTTP NM_000253.3(MTTP):c.*82G>ASNV Uncertain significance 347049 rs886058960 4:100544087-100544087 4:99622930-99622930
43 MTTP NM_000253.3(MTTP):c.*98T>ASNV Uncertain significance 347050 rs886058961 4:100544103-100544103 4:99622946-99622946
44 MTTP NM_000253.3(MTTP):c.*454dupduplication Uncertain significance 347054 rs545365701 4:100544440-100544441 4:99623283-99623284
45 MTTP NM_000253.3(MTTP):c.*490_*494deldeletion Uncertain significance 347055 rs886058963 4:100544495-100544499 4:99623338-99623342
46 MTTP NM_000253.3(MTTP):c.*694A>CSNV Uncertain significance 347058 rs187658213 4:100544699-100544699 4:99623542-99623542
47 MTTP NM_000253.3(MTTP):c.*989T>CSNV Uncertain significance 347060 rs183510498 4:100544994-100544994 4:99623837-99623837
48 MTTP NM_000253.3(MTTP):c.-54C>TSNV Uncertain significance 347016 rs181769817 4:100496013-100496013 4:99574856-99574856
49 MTTP NM_000253.3(MTTP):c.*55G>CSNV Uncertain significance 347048 rs192882987 4:100544060-100544060 4:99622903-99622903
50 MTTP NM_000253.3(MTTP):c.-153C>GSNV Uncertain significance 347012 rs886058954 4:100485343-100485343 4:99564186-99564186

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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 SAR1B PCSK9 P4HB MTTP LPL LDLR
2
Show member pathways
12.62 LPL LEP HADHB HADHA CPT2 APOA1
3
Show member pathways
12.46 LPL LDLR APOE APOB APOA1
4
Show member pathways
12.11 LDLR APOE APOB APOA1
5
Show member pathways
12.05 LPL LDLR APOE APOB APOA1
6
Show member pathways
11.94 SAR1B PCSK9 P4HB MTTP LPL LDLR
7
Show member pathways
11.73 APOE APOB APOA1
8
Show member pathways
11.73 PCSK9 MTTP LPL LDLR LCAT CETP
9 11.57 LPL CPT2 APOA1
10 11.53 SAR1B LPL LDLR
11
Show member pathways
11.28 LPL HADHB HADHA CPT2
12
Show member pathways
11.22 MTTP APOB APOA1
13
Show member pathways
10.52 HADHB HADHA
14
Show member pathways
10.21 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 10.22 PCSK9 P4HB LPL LEP LCAT CETP
2 endoplasmic reticulum GO:0005783 10.11 SAR1B PCSK9 P4HB MTTP HADHB APOE
3 Golgi apparatus GO:0005794 10.09 SAR1B PCSK9 MTTP LDLR BGLAP APOE
4 extracellular space GO:0005615 10.03 PCSK9 LPL LEP LCAT CETP CD1A
5 early endosome GO:0005769 9.91 PCSK9 LDLR APOE APOB APOA1 ANGPTL3
6 endoplasmic reticulum lumen GO:0005788 9.87 PCSK9 P4HB MTTP BGLAP APOE APOB
7 rough endoplasmic reticulum GO:0005791 9.71 PCSK9 MTTP BGLAP
8 clathrin-coated endocytic vesicle membrane GO:0030669 9.69 LDLR APOE APOB
9 very-low-density lipoprotein particle GO:0034361 9.67 LPL APOE APOB APOA1
10 endocytic vesicle lumen GO:0071682 9.63 APOE APOB APOA1
11 intermediate-density lipoprotein particle GO:0034363 9.58 APOE APOB APOA1
12 endolysosome membrane GO:0036020 9.56 PCSK9 LDLR
13 discoidal high-density lipoprotein particle GO:0034365 9.52 APOE APOA1
14 PCSK9-LDLR complex GO:1990666 9.49 PCSK9 LDLR
15 low-density lipoprotein particle GO:0034362 9.46 LDLR APOE APOB APOA1
16 chylomicron GO:0042627 9.26 LPL APOE APOB APOA1
17 high-density lipoprotein particle GO:0034364 9.02 LCAT CETP APOE APOB APOA1

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

(show top 50) (show all 59)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 10.07 PCSK9 P4HB APOE APOB APOA1
2 cellular protein metabolic process GO:0044267 10.04 PCSK9 P4HB APOE APOB APOA1
3 fatty acid metabolic process GO:0006631 10.04 LPL HADHB HADHA CPT2 ANGPTL3
4 response to drug GO:0042493 10.03 LPL HADHA BGLAP APOA1
5 lipid transport GO:0006869 10 MTTP LDLR CETP APOE APOB APOA1
6 receptor-mediated endocytosis GO:0006898 9.98 LDLR APOE APOB APOA1
7 phospholipid metabolic process GO:0006644 9.96 PCSK9 LPL LCAT APOA1 ANGPTL3
8 steroid metabolic process GO:0008202 9.95 PCSK9 LDLR LCAT CETP APOE APOB
9 retinoid metabolic process GO:0001523 9.93 LPL APOE APOB APOA1
10 triglyceride metabolic process GO:0006641 9.91 PCSK9 MTTP LPL CETP APOE
11 fatty acid beta-oxidation GO:0006635 9.9 LEP HADHB HADHA CPT2
12 response to nutrient GO:0007584 9.88 TTPA LEP APOA1
13 phospholipid transport GO:0015914 9.88 MTTP LDLR CETP APOA1
14 triglyceride homeostasis GO:0070328 9.88 LPL CETP APOE APOA1 ANGPTL3
15 artery morphogenesis GO:0048844 9.87 LDLR APOE APOB ANGPTL3
16 reverse cholesterol transport GO:0043691 9.85 LCAT CETP APOE APOA1
17 lipid homeostasis GO:0055088 9.84 CETP APOE ANGPTL3
18 high-density lipoprotein particle remodeling GO:0034375 9.84 LCAT CETP APOE APOA1
19 low-density lipoprotein particle clearance GO:0034383 9.83 PCSK9 LDLR APOB
20 cholesterol transport GO:0030301 9.83 LDLR LCAT CETP APOB APOA1
21 cholesterol efflux GO:0033344 9.82 APOE APOB APOA1
22 phosphatidylcholine metabolic process GO:0046470 9.81 LCAT CETP APOA1
23 cholesterol metabolic process GO:0008203 9.81 PCSK9 LEP LDLR LCAT CETP APOE
24 low-density lipoprotein particle remodeling GO:0034374 9.8 CETP APOE APOB
25 chylomicron remodeling GO:0034371 9.8 LPL APOE APOB APOA1
26 phospholipid homeostasis GO:0055091 9.79 CETP APOA1 ANGPTL3
27 high-density lipoprotein particle clearance GO:0034384 9.79 LDLR APOE APOA1
28 very-low-density lipoprotein particle assembly GO:0034379 9.78 P4HB MTTP APOB
29 chylomicron remnant clearance GO:0034382 9.77 LDLR APOE APOB
30 chylomicron assembly GO:0034378 9.77 P4HB MTTP APOE APOB APOA1
31 lipoprotein biosynthetic process GO:0042158 9.76 LCAT APOE APOB APOA1
32 lipoprotein catabolic process GO:0042159 9.75 LDLR APOE APOB
33 lipoprotein metabolic process GO:0042157 9.73 PCSK9 MTTP LDLR APOE APOB APOA1
34 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.72 LPL APOB
35 lipoprotein transport GO:0042953 9.72 MTTP APOB
36 positive regulation of cholesterol efflux GO:0010875 9.72 APOE APOA1
37 regulation of cholesterol metabolic process GO:0090181 9.72 LDLR APOE
38 high-density lipoprotein particle assembly GO:0034380 9.72 APOE APOA1
39 very-low-density lipoprotein particle remodeling GO:0034372 9.72 LPL LCAT CETP APOE APOA1
40 phospholipid efflux GO:0033700 9.71 APOE APOA1
41 positive regulation of lipid storage GO:0010884 9.71 LPL APOB
42 response to dietary excess GO:0002021 9.71 LEP APOE
43 regulation of protein metabolic process GO:0051246 9.71 LDLR APOE
44 regulation of lipoprotein lipase activity GO:0051004 9.7 LPL ANGPTL3
45 positive regulation of cholesterol esterification GO:0010873 9.7 APOE APOA1
46 vitamin transport GO:0051180 9.7 TTPA APOA1
47 positive regulation of cholesterol storage GO:0010886 9.7 LPL APOB
48 regulation of Cdc42 protein signal transduction GO:0032489 9.69 APOE APOA1
49 cholesterol import GO:0070508 9.69 LDLR APOA1
50 cardiolipin acyl-chain remodeling GO:0035965 9.69 HADHB HADHA

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.88 TTPA MTTP CETP APOE APOA1
2 heparin binding GO:0008201 9.83 LPL APOE APOB ANGPTL3
3 phospholipid binding GO:0005543 9.77 APOE APOB APOA1
4 amyloid-beta binding GO:0001540 9.75 LDLR APOE APOA1
5 heparan sulfate proteoglycan binding GO:0043395 9.59 LPL APOE
6 low-density lipoprotein particle binding GO:0030169 9.58 PCSK9 LDLR
7 enoyl-CoA hydratase activity GO:0004300 9.57 HADHB HADHA
8 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.56 HADHB HADHA
9 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.55 APOE APOA1
10 acetyl-CoA C-acyltransferase activity GO:0003988 9.54 HADHB HADHA
11 low-density lipoprotein particle receptor binding GO:0050750 9.54 PCSK9 APOE APOB
12 very-low-density lipoprotein particle receptor binding GO:0070326 9.51 PCSK9 APOE
13 phospholipid transporter activity GO:0005548 9.5 MTTP CETP APOA1
14 long-chain-enoyl-CoA hydratase activity GO:0016508 9.49 HADHB HADHA
15 apolipoprotein receptor binding GO:0034190 9.46 PCSK9 APOA1
16 triglyceride binding GO:0017129 9.43 LPL CETP
17 apolipoprotein binding GO:0034185 9.43 PCSK9 MTTP LPL
18 long-chain-3-hydroxyacyl-CoA dehydrogenase activity GO:0016509 9.4 HADHB HADHA
19 lipoprotein particle binding GO:0071813 9.33 LPL APOE APOA1
20 intermembrane cholesterol transfer activity GO:0120020 9.26 CETP APOE APOB APOA1
21 lipid transporter activity GO:0005319 9.02 MTTP 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
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