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 58 12 25 54 26 60 76 38 13 56 45 15 74
Acanthocytosis 58 77 26 76 30 6 74
Familial Hypobetalipoproteinemia 12 54 26 74
Bassen-Kornzweig Syndrome 58 25 26 76
Abetalipoproteinaemia 26 30 6 41
Mtp Deficiency 58 54 26 76
Abl 58 54 26 76
Microsomal Triglyceride Transfer Protein Deficiency Disease 12 54 26
Microsomal Triglyceride Transfer Protein Deficiency 58 54 76
Abetalipoproteinemia Neuropathy 54 26 74
Bassen-Kornzweig Disease 54 26 60
Congenital Betalipoprotein Deficiency Syndrome 54 26
Homozygous Familial Hypobetalipoproteinemia 54 60
Betalipoprotein Deficiency Disease 54 26
Apolipoprotein B Deficiency 54 26
Fhbl 54 26
Hypobetalipoproteinemia, Familial, Apolipoprotein B 74
Hypobetalipoproteinemia, Familial 54
Hypobetalipoprotéinemia, Familial 77
Bassen Kornzweig Syndrome 54
Hypobetalipoproteinemias 74
Hypobetalipoproteinemia 26

Characteristics:

Orphanet epidemiological data:

60
abetalipoproteinemia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
abetalipoproteinemia:
Inheritance autosomal recessive inheritance


GeneReviews:

25
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:



External Ids:

Disease Ontology 12 DOID:1386
OMIM 58 200100
KEGG 38 H00160
MeSH 45 D000012
NCIt 51 C84525
SNOMED-CT 69 83123000
ICD10 34 E78.6
MESH via Orphanet 46 D000012
ICD10 via Orphanet 35 E78.6
UMLS via Orphanet 75 C0000744
Orphanet 60 ORPHA14
MedGen 43 C0000744

Summaries for Abetalipoproteinemia

NIH Rare Diseases : 54 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.

MalaCards based summary : Abetalipoproteinemia, also known as acanthocytosis, is related to hypobetalipoproteinemia, familial, 1 and chylomicron retention disease, 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 eye, liver and brain, 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.

Genetics Home Reference : 26 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.

OMIM : 58 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)

CDC : 3 /niosh/ables/ables.html  has moved. The new location is /niosh/topics/ables/default.html. Please update your bookmarks.

UniProtKB/Swiss-Prot : 76 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 : 77 Acanthocyte (from the Greek word ἄκανθα acantha, meaning ''thorn''), in biology and medicine, refers to... 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 759)
# Related Disease Score Top Affiliating Genes
1 hypobetalipoproteinemia, familial, 1 32.3 APOB MTTP SAR1B
2 chylomicron retention disease 31.8 APOA1 APOB MTTP SAR1B
3 mitochondrial trifunctional protein deficiency 31.7 HADHA HADHB
4 hypobetalipoproteinemia, familial, 2 31.6 APOA1 APOB CETP LPL
5 myocardial infarction 31.0 APOA1 APOB APOE CETP LDLR
6 hypolipoproteinemia 30.5 APOA1 APOB APOE LCAT LPL MTTP
7 diabetes mellitus, noninsulin-dependent 30.3 APOA1 APOB APOE CETP LCAT LPL
8 homozygous familial hypercholesterolemia 29.8 APOB APOE LDLR MTTP
9 fatty liver disease, nonalcoholic 1 29.3 HADHA MTTP
10 macular degeneration, age-related, 1 29.2 APOB APOE CETP
11 lecithin:cholesterol acyltransferase deficiency 28.9 APOA1 APOB APOE CETP LCAT LDLR
12 heart disease 28.8 APOA1 APOB APOE LDLR LPL
13 hypercholesterolemia, familial 28.7 APOA1 APOB APOE CETP LCAT LDLR
14 vascular disease 28.5 APOA1 APOB APOE CETP LDLR LPL
15 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration 12.6
16 choreoacanthocytosis 12.5
17 wolman disease with hypolipoproteinemia and acanthocytosis 12.2
18 leukemia, chronic myeloid 12.1
19 atypical chronic myeloid leukemia 11.9
20 mcleod syndrome 11.8
21 nguyen syndrome 11.6
22 infertility 11.4
23 depression 11.2
24 chronic neutrophilic leukemia 11.2
25 spinal cord injury 11.1
26 cervical cancer 11.1
27 epilepsy 11.1
28 bronchiolitis 11.1
29 lupus erythematosus 11.1
30 cataract 11.1
31 esophagitis, eosinophilic, 1 11.1
32 lung disease 11.1
33 leukemia 11.0
34 butyrylcholinesterase deficiency 11.0
35 chronic fatigue syndrome 11.0
36 choreatic disease 10.9
37 sucrase-isomaltase deficiency, congenital 10.9
38 hartnup disorder 10.9
39 male infertility 10.9
40 nocardiosis 10.9
41 myeloid leukemia 10.8
42 papillorenal syndrome 10.7
43 kleine-levin hibernation syndrome 10.7
44 multiple system atrophy 1 10.7
45 attention deficit-hyperactivity disorder 10.7
46 huntington disease 10.7
47 hawkinsinuria 10.7
48 nephrolithiasis, calcium oxalate 10.7
49 corneal dystrophy, fuchs endothelial, 1 10.7
50 adermatoglyphia 10.7

Graphical network of the top 20 diseases related to Abetalipoproteinemia:



Diseases related to Abetalipoproteinemia

Symptoms & Phenotypes for Abetalipoproteinemia

Human phenotypes related to Abetalipoproteinemia:

60 33 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malabsorption 60 33 hallmark (90%) Very frequent (99-80%) HP:0002024
2 ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0001251
3 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
4 abnormality of retinal pigmentation 60 33 frequent (33%) Frequent (79-30%) HP:0007703
5 reduced tendon reflexes 60 33 frequent (33%) Frequent (79-30%) HP:0001315
6 visual impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000505
7 retinopathy 33 HP:0000488
8 abnormality of movement 60 Frequent (79-30%)
9 peripheral demyelination 33 HP:0011096
10 fat malabsorption 33 HP:0002630
11 acanthocytosis 33 HP:0001927
12 retinal degeneration 33 HP:0000546
13 cns demyelination 33 HP:0007305
14 abetalipoproteinemia 33 HP:0008181

Symptoms via clinical synopsis from OMIM:

58
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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.43 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10 APOA1 APOB APOE CPT2 HADHA HADHB
2 homeostasis/metabolism MP:0005376 9.93 APOA1 APOB APOE CPT2 HADHA HADHB
3 liver/biliary system MP:0005370 9.61 APOA1 APOB APOE HADHA HADHB LCAT
4 muscle MP:0005369 9.17 APOB APOE HADHA HADHB LDLR LPL

Drugs & Therapeutics for Abetalipoproteinemia

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

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

Interventional clinical trials:


# 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 Vitamin E Supplement in Patients With Cirrhosis and Acanthocytosis Completed NCT01463735 Phase 2
3 Measure Liver Fat Content After ISIS 301012 (Mipomersen) Administration Completed NCT00362180 Phase 2 mipomersen;Placebo
4 Vitamin Replacement in Abetalipoproteinemia Completed NCT00004574
5 Prevalence Assessment and Characterization of Psychological Disorders Associated With Hypobetalipoproteinemia Completed NCT02889614
6 Mechanisms of Low Levels of Apolipoprotein B Completed NCT00005565
7 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
8 Prevalence of fAmilial hypobetalipopRoTeinemIa in psychiaTrIc pOpulatioN (PARTITION) Recruiting NCT03549637 Not Applicable
9 Characterization of Two Novel Mutations in the Apob Gene Recruiting NCT03963037
10 HYPOCHOL : A Genetically-based Strategy to Identify New Targets in Cholesterol Metabolism Recruiting NCT02354079 Not Applicable

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 30 MTTP
2 Acanthocytosis 30

Anatomical Context for Abetalipoproteinemia

MalaCards organs/tissues related to Abetalipoproteinemia:

42
Eye, Liver, Brain, Heart, Prostate, T Cells, Myeloid

Publications for Abetalipoproteinemia

Articles related to Abetalipoproteinemia:

(show top 50) (show all 502)
# Title Authors Year
1
Acanthocytosis causing chronic hemolysis in a patient with advanced cirrhosis. ( 30923109 )
2019
2
Acanthocytosis and brain damage in area postrema and choroid plexus: Description of novel signs of Loxosceles apachea envenomation in rats. ( 30730934 )
2019
3
High Frequency Bilateral Globus Pallidus Interna Deep Brain Stimulation Can Improve Both Chorea and Dysarthria in Chorea-acanthocytosis. ( 30658884 )
2019
4
Yeast model based study identified myosin and calcium-dependent calmodulin signalling as a potential target for drug intervention in chorea-acanthocytosis. ( 30635263 )
2019
5
Two infants with abetalipoproteinemia: Classic versus atypical presentation. ( 31087595 )
2019
6
Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemia. ( 30875496 )
2019
7
Ophthalmic diagnosis and optical coherence tomography of abetalipoproteinemia, a treatable form of pediatric retinal dystrophy. ( 30731125 )
2019
8
Extremely low levels of low-density lipoprotein potentially suggestive of familial hypobetalipoproteinemia: A separate phenotype of NAFLD? ( 30879942 )
2019
9
Marked acanthocytosis in the setting of Klippel-Trenaunay syndrome: A case report. ( 30113765 )
2019
10
Pathoarchitectonics of the cerebral cortex in chorea-acanthocytosis and Huntington's disease. ( 29722054 )
2019
11
Life expectancy and mortality in chorea-acanthocytosis and McLeod syndrome. ( 30245172 )
2019
12
Inhibition of Lithium Sensitive Orai1/ STIM1 Expression and Store Operated Ca2+ Entry in Chorea-Acanthocytosis Neurons by NF-κB Inhibitor Wogonin. ( 30453283 )
2018
13
Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations. ( 30217939 )
2018
14
A Thorny Finding: Unexpected Acanthocytosis in an Elderly Patient. ( 30154201 )
2018
15
Chorea-Acanthocytosis in a Chinese Family With a Pseudo-Dominant Inheritance Mode. ( 30140251 )
2018
16
Defective mitochondrial and lysosomal trafficking in chorea-acanthocytosis is independent of Src-kinase signaling. ( 30081151 )
2018
17
Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing. ( 29845114 )
2018
18
New pathogenic mutation of chorea-acanthocytosis. ( 29752031 )
2018
19
Pallidal Deep Brain Stimulation in Patients With Chorea-Acanthocytosis. ( 29635714 )
2018
20
Progress in the Diagnosis and Management of Chorea-acanthocytosis. ( 29620515 )
2018
21
Phenomenology and disease progression of chorea-acanthocytosis patients in Spain. ( 29317187 )
2018
22
Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome. ( 29253590 )
2018
23
Striking lack of visualization of striatum on 18F-FDG brain PET in chorea-acanthocytosis. ( 29242959 )
2018
24
Value of 18F-FDG PET/CT in the diagnosis of chorea-acanthocytosis. ( 29208484 )
2018
25
Abetalipoproteinemia From Previously Unreported Gene Mutations. ( 30398540 )
2018
26
Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease. ( 30021760 )
2018
27
Acanthocytosis and HyperCKemia ( 28515033 )
2018
28
Subcortical neurodegeneration in chorea: Similarities and differences between chorea-acanthocytosis and Huntington's disease. ( 29402698 )
2018
29
The "Stutter-Step": A Peculiar Gait Feature in Advanced Huntington's Disease and Chorea-Acanthocytosis. ( 30746406 )
2018
30
Acanthocytosis in progressive childhood dystonia. ( 30038131 )
2018
31
Chorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel VPS13A Mutation. ( 30687222 )
2018
32
Mouse model of chorea-acanthocytosis exhibits male infertility caused by impaired sperm motility as a result of ultrastructural morphological abnormalities in the mitochondrial sheath in the sperm midpiece. ( 29928881 )
2018
33
Chorea-Acanthocytosis and the Huntington Disease Allele in an Irish Family. ( 30622839 )
2018
34
Association between familial hypobetalipoproteinemia and the risk of diabetes. Is this the other side of the cholesterol-diabetes connection? A systematic review of literature. ( 27804036 )
2017
35
Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia. ( 28733173 )
2017
36
Cooccurrence of Chorea-Acanthocytosis and Mesial Temporal Sclerosis: A Possible Role of Caudate Nucleus. ( 28884035 )
2017
37
Lithium Sensitivity of Store Operated Ca2+ Entry and Survival of Fibroblasts Isolated from Chorea-Acanthocytosis Patients. ( 28803243 )
2017
38
Lithium Sensitive ORAI1 Expression, Store Operated Ca2+ Entry and Suicidal Death of Neurons in Chorea-Acanthocytosis. ( 28743945 )
2017
39
Axial Sensory Tricks in Chorea-Acanthocytosis: Insights into Phenomenology. ( 28690922 )
2017
40
Disruption of GABA(A)-mediated intracortical inhibition in patients with chorea-acanthocytosis. ( 28645789 )
2017
41
Chorea-acanthocytosis without chorea: Expanding the clinical phenotype. ( 28551324 )
2017
42
Novel VPS13A Gene Mutations Identified in Patients Diagnosed with Chorea-acanthocytosis (ChAc): Case Presentation and Literature Review. ( 28446873 )
2017
43
Amino acid substitution equivalent to human chorea-acanthocytosis I2771R in yeast Vps13 protein affects its binding to phosphatidylinositol 3-phosphate. ( 28334785 )
2017
44
HyperCKemia instead of Hyperkalemia in Chorea-Acanthocytosis. ( 28268226 )
2017
45
Eighth International Chorea-Acanthocytosis Symposium: Summary of Workshop Discussion and Action Points. ( 28224046 )
2017
46
Extending the aceruloplasminemia phenotype: NBIA on imaging and acanthocytosis, yet only minor neurological findings. ( 28431603 )
2017
47
Absence of Acanthocytosis in Huntington's Disease-like 2: A Prospective Comparison with Huntington's Disease. ( 29226019 )
2017
48
Hippocampal sclerosis and mesial temporal lobe epilepsy in chorea-acanthocytosis: a case with clinical, pathologic and genetic evaluation. ( 28398599 )
2017
49
Brain FDG-PET showing striatal hypometabolism in a case of chorea-acanthocytosis. ( 26522005 )
2016
50
A tale of 2 cousins: An atypical and a typical case of abetalipoproteinemia. ( 27578136 )
2016

Variations for Abetalipoproteinemia

UniProtKB/Swiss-Prot genetic disease variations for Abetalipoproteinemia:

76
# 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

ClinVar genetic disease variations for Abetalipoproteinemia:

6 (show top 50) (show all 174)
# Gene Variation Type Significance SNP ID Assembly Location
1 MTTP NM_000253.3(MTTP): c.*1044G> T single nucleotide variant Uncertain significance rs886058965 GRCh37 Chromosome 4, 100545049: 100545049
2 MTTP NM_000253.3(MTTP): c.*1044G> T single nucleotide variant Uncertain significance rs886058965 GRCh38 Chromosome 4, 99623892: 99623892
3 MTTP NM_000253.3(MTTP): c.*862C> A single nucleotide variant Likely benign rs6832927 GRCh37 Chromosome 4, 100544867: 100544867
4 MTTP NM_000253.3(MTTP): c.*862C> A single nucleotide variant Likely benign rs6832927 GRCh38 Chromosome 4, 99623710: 99623710
5 MTTP NM_000253.3(MTTP): c.*517A> T single nucleotide variant Uncertain significance rs886058964 GRCh37 Chromosome 4, 100544522: 100544522
6 MTTP NM_000253.3(MTTP): c.*517A> T single nucleotide variant Uncertain significance rs886058964 GRCh38 Chromosome 4, 99623365: 99623365
7 MTTP NM_000253.3(MTTP): c.2513+13G> A single nucleotide variant Uncertain significance rs148073215 GRCh37 Chromosome 4, 100542401: 100542401
8 MTTP NM_000253.3(MTTP): c.2513+13G> A single nucleotide variant Uncertain significance rs148073215 GRCh38 Chromosome 4, 99621244: 99621244
9 MTTP NM_000253.3(MTTP): c.2043G> A (p.Glu681=) single nucleotide variant Uncertain significance rs145444300 GRCh37 Chromosome 4, 100534123: 100534123
10 MTTP NM_000253.3(MTTP): c.2043G> A (p.Glu681=) single nucleotide variant Uncertain significance rs145444300 GRCh38 Chromosome 4, 99612966: 99612966
11 MTTP NM_000253.3(MTTP): c.1769+3A> G single nucleotide variant Uncertain significance rs375993709 GRCh37 Chromosome 4, 100530137: 100530137
12 MTTP NM_000253.3(MTTP): c.1769+3A> G single nucleotide variant Uncertain significance rs375993709 GRCh38 Chromosome 4, 99608980: 99608980
13 MTTP NM_000253.3(MTTP): c.1557+7T> A single nucleotide variant Likely benign rs142706742 GRCh37 Chromosome 4, 100528124: 100528124
14 MTTP NM_000253.3(MTTP): c.1557+7T> A single nucleotide variant Likely benign rs142706742 GRCh38 Chromosome 4, 99606967: 99606967
15 MTTP NM_000253.3(MTTP): c.1023A> G (p.Lys341=) single nucleotide variant Uncertain significance rs145724674 GRCh37 Chromosome 4, 100518337: 100518337
16 MTTP NM_000253.3(MTTP): c.1023A> G (p.Lys341=) single nucleotide variant Uncertain significance rs145724674 GRCh38 Chromosome 4, 99597180: 99597180
17 MTTP NM_000253.3(MTTP): c.901T> C (p.Cys301Arg) single nucleotide variant Uncertain significance rs759706918 GRCh37 Chromosome 4, 100516032: 100516032
18 MTTP NM_000253.3(MTTP): c.901T> C (p.Cys301Arg) single nucleotide variant Uncertain significance rs759706918 GRCh38 Chromosome 4, 99594875: 99594875
19 MTTP NM_000253.3(MTTP): c.833A> G (p.Lys278Arg) single nucleotide variant Uncertain significance rs886058957 GRCh37 Chromosome 4, 100515964: 100515964
20 MTTP NM_000253.3(MTTP): c.833A> G (p.Lys278Arg) single nucleotide variant Uncertain significance rs886058957 GRCh38 Chromosome 4, 99594807: 99594807
21 MTTP NM_000253.3(MTTP): c.*1118C> T single nucleotide variant Uncertain significance rs144013236 GRCh37 Chromosome 4, 100545123: 100545123
22 MTTP NM_000253.3(MTTP): c.*1118C> T single nucleotide variant Uncertain significance rs144013236 GRCh38 Chromosome 4, 99623966: 99623966
23 MTTP NM_000253.3(MTTP): c.*382T> C single nucleotide variant Uncertain significance rs556994625 GRCh37 Chromosome 4, 100544387: 100544387
24 MTTP NM_000253.3(MTTP): c.*382T> C single nucleotide variant Uncertain significance rs556994625 GRCh38 Chromosome 4, 99623230: 99623230
25 MTTP NM_000253.3(MTTP): c.*279C> G single nucleotide variant Uncertain significance rs115807483 GRCh37 Chromosome 4, 100544284: 100544284
26 MTTP NM_000253.3(MTTP): c.*279C> G single nucleotide variant Uncertain significance rs115807483 GRCh38 Chromosome 4, 99623127: 99623127
27 MTTP NM_000253.3(MTTP): c.2237G> A (p.Gly746Glu) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 100540150: 100540150
28 MTTP NM_000253.3(MTTP): c.2237G> A (p.Gly746Glu) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 99618993: 99618993
29 MTTP NM_000253.3(MTTP): c.1304T> A (p.Leu435His) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 100522831: 100522831
30 MTTP NM_000253.3(MTTP): c.1304T> A (p.Leu435His) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 99601674: 99601674
31 MTTP NM_000253.3(MTTP): c.1558-2A> G single nucleotide variant Likely pathogenic rs1553927840 GRCh38 Chromosome 4, 99608764: 99608764
32 MTTP NM_000253.3(MTTP): c.1558-2A> G single nucleotide variant Likely pathogenic rs1553927840 GRCh37 Chromosome 4, 100529921: 100529921
33 MTTP NM_000253.3(MTTP): c.1770-10T> C single nucleotide variant Likely benign rs1194740423 GRCh38 Chromosome 4, 99611133: 99611133
34 MTTP NM_000253.3(MTTP): c.1770-10T> C single nucleotide variant Likely benign rs1194740423 GRCh37 Chromosome 4, 100532290: 100532290
35 MTTP NM_000253.3(MTTP): c.1016C> A (p.Ala339Glu) single nucleotide variant Uncertain significance rs137956833 GRCh38 Chromosome 4, 99597173: 99597173
36 MTTP NM_000253.3(MTTP): c.1016C> A (p.Ala339Glu) single nucleotide variant Uncertain significance rs137956833 GRCh37 Chromosome 4, 100518330: 100518330
37 MTTP NM_000253.3(MTTP): c.552A> T (p.Lys184Asn) single nucleotide variant Likely benign rs144315111 GRCh38 Chromosome 4, 99591285: 99591285
38 MTTP NM_000253.3(MTTP): c.552A> T (p.Lys184Asn) single nucleotide variant Likely benign rs144315111 GRCh37 Chromosome 4, 100512442: 100512442
39 MTTP NM_000253.3(MTTP): c.2212delT (p.Ser738Leufs) deletion Likely pathogenic rs755681036 GRCh38 Chromosome 4, 99613135: 99613135
40 MTTP NM_000253.3(MTTP): c.2212delT (p.Ser738Leufs) deletion Likely pathogenic rs755681036 GRCh37 Chromosome 4, 100534292: 100534292
41 MTTP NM_000253.3(MTTP): c.708_709del (p.His236Glnfs) deletion Pathogenic rs1553926818 GRCh38 Chromosome 4, 99591740: 99591741
42 MTTP NM_000253.3(MTTP): c.708_709del (p.His236Glnfs) deletion Pathogenic rs1553926818 GRCh37 Chromosome 4, 100512897: 100512898
43 APOB NM_000384.2(APOB): c.10238del (p.Thr3413Metfs) deletion Pathogenic rs756209187 GRCh38 Chromosome 2, 21006630: 21006630
44 APOB NM_000384.2(APOB): c.10238del (p.Thr3413Metfs) deletion Pathogenic rs756209187 GRCh37 Chromosome 2, 21229502: 21229502
45 APOB NM_000384.2(APOB): c.11812_11813del (p.Asp3938Trpfs) deletion Likely pathogenic rs1553382678 GRCh38 Chromosome 2, 21004651: 21004652
46 APOB NM_000384.2(APOB): c.11812_11813del (p.Asp3938Trpfs) deletion Likely pathogenic rs1553382678 GRCh37 Chromosome 2, 21227523: 21227524
47 DNMT1 NM_001130823.2(DNMT1): c.2718C> G (p.Phe906Leu) single nucleotide variant Uncertain significance rs1057518774 GRCh37 Chromosome 19, 10259562: 10259562
48 DNMT1 NM_001130823.2(DNMT1): c.2718C> G (p.Phe906Leu) single nucleotide variant Uncertain significance rs1057518774 GRCh38 Chromosome 19, 10148886: 10148886
49 MTTP NM_000253.3(MTTP): c.660T> C (p.Tyr220=) single nucleotide variant Uncertain significance rs113557405 GRCh37 Chromosome 4, 100512849: 100512849
50 MTTP NM_000253.3(MTTP): c.660T> C (p.Tyr220=) single nucleotide variant Uncertain significance rs113557405 GRCh38 Chromosome 4, 99591692: 99591692

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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.61 APOA1 APOB APOE CETP CPT2 HADHA
2
Show member pathways
12.66 APOA1 CPT2 HADHA HADHB LPL
3
Show member pathways
12.37 APOA1 APOB APOE LDLR LPL
4
Show member pathways
12.07 APOA1 APOB APOE LDLR
5
Show member pathways
12.05 APOA1 APOB APOE LDLR LPL
6
Show member pathways
11.86 APOA1 APOB APOE CETP LCAT LDLR
7
Show member pathways
11.72 APOA1 APOB APOE
8
Show member pathways
11.67 CPT2 HADHA HADHB
9
Show member pathways
11.63 APOA1 APOB APOE CETP LCAT LDLR
10 11.52 APOA1 CPT2 LPL
11 11.5 LDLR LPL SAR1B
12
Show member pathways
11.28 CPT2 HADHA HADHB LPL
13
Show member pathways
11.22 APOA1 APOB MTTP
14 11.07 APOE LDLR
15 10.97 APOA1 CPT2
16 10.93 APOA1 APOB
17 10.65 HADHA HADHB

GO Terms for Abetalipoproteinemia

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.97 APOB APOE HADHB MTTP P4HB SAR1B
2 endoplasmic reticulum lumen GO:0005788 9.8 APOA1 APOB APOE MTTP P4HB
3 early endosome GO:0005769 9.78 APOA1 APOB APOE LDLR
4 clathrin-coated endocytic vesicle membrane GO:0030669 9.61 APOB APOE LDLR
5 high-density lipoprotein particle GO:0034364 9.56 APOA1 APOE CETP LCAT
6 endocytic vesicle lumen GO:0071682 9.54 APOA1 APOB APOE
7 endoplasmic reticulum exit site GO:0070971 9.51 APOB SAR1B
8 intermediate-density lipoprotein particle GO:0034363 9.5 APOA1 APOB APOE
9 discoidal high-density lipoprotein particle GO:0034365 9.46 APOA1 APOE
10 very-low-density lipoprotein particle GO:0034361 9.46 APOA1 APOB APOE LPL
11 low-density lipoprotein particle GO:0034362 9.26 APOA1 APOB APOE LDLR
12 chylomicron GO:0042627 8.92 APOA1 APOB APOE LPL
13 extracellular region GO:0005576 10.07 APOA1 APOB APOE CETP LCAT LPL

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

(show top 50) (show all 54)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.99 APOA1 APOB APOE P4HB
2 lipid transport GO:0006869 9.97 APOA1 APOB APOE CETP LDLR MTTP
3 steroid metabolic process GO:0008202 9.95 APOA1 APOB APOE CETP LCAT LDLR
4 cellular protein metabolic process GO:0044267 9.94 APOA1 APOB APOE P4HB
5 receptor-mediated endocytosis GO:0006898 9.93 APOA1 APOB APOE LDLR
6 cholesterol metabolic process GO:0008203 9.91 APOA1 APOB APOE CETP LCAT LDLR
7 fatty acid metabolic process GO:0006631 9.89 CPT2 HADHA HADHB
8 membrane organization GO:0061024 9.88 APOB LDLR SAR1B
9 phospholipid transport GO:0015914 9.88 APOA1 CETP LDLR MTTP
10 triglyceride metabolic process GO:0006641 9.87 APOE CETP LPL MTTP
11 triglyceride homeostasis GO:0070328 9.86 APOA1 APOE CETP LPL
12 triglyceride catabolic process GO:0019433 9.85 APOA1 APOB APOE LPL
13 phospholipid metabolic process GO:0006644 9.84 APOA1 LCAT LPL
14 reverse cholesterol transport GO:0043691 9.83 APOA1 APOE CETP LCAT
15 retinoid metabolic process GO:0001523 9.81 APOA1 APOB APOE
16 high-density lipoprotein particle remodeling GO:0034375 9.81 APOA1 APOE CETP LCAT
17 fatty acid beta-oxidation GO:0006635 9.8 CPT2 HADHA HADHB
18 cholesterol efflux GO:0033344 9.79 APOA1 APOB APOE
19 low-density lipoprotein particle remodeling GO:0034374 9.78 APOB APOE CETP
20 very-low-density lipoprotein particle assembly GO:0034379 9.77 APOB MTTP P4HB
21 high-density lipoprotein particle clearance GO:0034384 9.77 APOA1 APOE LDLR
22 cholesterol transport GO:0030301 9.77 APOA1 APOB CETP LCAT LDLR
23 chylomicron remnant clearance GO:0034382 9.76 APOB APOE LDLR
24 chylomicron remodeling GO:0034371 9.76 APOA1 APOB APOE LPL
25 long-term memory GO:0007616 9.72 APOE LDLR
26 lipoprotein metabolic process GO:0042157 9.72 APOA1 APOB APOE LDLR MTTP
27 phosphatidylcholine biosynthetic process GO:0006656 9.71 APOA1 LCAT
28 lipoprotein transport GO:0042953 9.71 APOB MTTP
29 low-density lipoprotein particle clearance GO:0034383 9.71 APOB LDLR
30 lipoprotein catabolic process GO:0042159 9.71 APOB APOE LDLR
31 lipoprotein biosynthetic process GO:0042158 9.71 APOA1 APOB APOE LCAT
32 artery morphogenesis GO:0048844 9.7 APOB APOE
33 positive regulation of lipid biosynthetic process GO:0046889 9.7 APOA1 APOE
34 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.7 APOB LPL
35 regulation of cholesterol metabolic process GO:0090181 9.69 APOE LDLR
36 high-density lipoprotein particle assembly GO:0034380 9.69 APOA1 APOE
37 phosphatidylcholine metabolic process GO:0046470 9.68 CETP LCAT
38 phospholipid efflux GO:0033700 9.68 APOA1 APOE
39 regulation of protein metabolic process GO:0051246 9.68 APOE LDLR
40 phospholipid homeostasis GO:0055091 9.68 APOA1 CETP
41 positive regulation of cholesterol esterification GO:0010873 9.67 APOA1 APOE
42 vitamin transport GO:0051180 9.67 APOA1 TTPA
43 positive regulation of cholesterol storage GO:0010886 9.66 APOB LPL
44 regulation of Cdc42 protein signal transduction GO:0032489 9.66 APOA1 APOE
45 regulation of cholesterol transport GO:0032374 9.65 APOA1 APOE
46 cholesterol import GO:0070508 9.65 APOA1 LDLR
47 very-low-density lipoprotein particle clearance GO:0034447 9.65 APOB APOE
48 chylomicron assembly GO:0034378 9.65 APOA1 APOB APOE MTTP P4HB
49 triglyceride transport GO:0034197 9.63 CETP MTTP
50 response to caloric restriction GO:0061771 9.62 APOE LDLR

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring acyl groups GO:0016746 9.77 CPT2 HADHB LCAT
2 heparin binding GO:0008201 9.76 APOB APOE LPL
3 phospholipid binding GO:0005543 9.73 APOA1 APOB APOE
4 amyloid-beta binding GO:0001540 9.7 APOA1 APOE LDLR
5 low-density lipoprotein particle receptor binding GO:0050750 9.58 APOB APOE
6 cholesterol binding GO:0015485 9.58 APOA1 APOE CETP
7 apolipoprotein binding GO:0034185 9.57 LPL MTTP
8 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.55 HADHA HADHB
9 lipid binding GO:0008289 9.55 APOA1 APOE CETP MTTP TTPA
10 enoyl-CoA hydratase activity GO:0004300 9.54 HADHA HADHB
11 acetyl-CoA C-acyltransferase activity GO:0003988 9.51 HADHA HADHB
12 lipoprotein particle binding GO:0071813 9.49 APOA1 APOE
13 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.48 APOA1 APOE
14 long-chain-enoyl-CoA hydratase activity GO:0016508 9.43 HADHA HADHB
15 phospholipid transporter activity GO:0005548 9.43 APOA1 CETP MTTP
16 long-chain-3-hydroxyacyl-CoA dehydrogenase activity GO:0016509 9.37 HADHA HADHB
17 triglyceride binding GO:0017129 9.32 CETP LPL
18 cholesterol transporter activity GO:0017127 9.26 APOA1 APOB APOE CETP
19 acetyl-CoA C-acetyltransferase activity GO:0003985 9.16 HADHA
20 lipid transporter activity GO:0005319 9.02 APOA1 APOB APOE CETP MTTP

Sources for Abetalipoproteinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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