MCID: ABT001
MIFTS: 64

Abetalipoproteinemia

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

Aliases & Classifications for Abetalipoproteinemia

MalaCards integrated aliases for Abetalipoproteinemia:

Name: Abetalipoproteinemia 53 12 49 24 55 71 36 28 13 51 41 14 69
Acanthocytosis 53 72 24 71 28 69
Familial Hypobetalipoproteinemia 12 49 24 69
Microsomal Triglyceride Transfer Protein Deficiency Disease 12 49 24
Microsomal Triglyceride Transfer Protein Deficiency 53 49 71
Abetalipoproteinemia Neuropathy 49 24 69
Bassen-Kornzweig Syndrome 53 24 71
Mtp Deficiency 53 49 71
Abl 53 49 71
Congenital Betalipoprotein Deficiency Syndrome 49 24
Homozygous Familial Hypobetalipoproteinemia 49 55
Betalipoprotein Deficiency Disease 49 24
Apolipoprotein B Deficiency 49 24
Bassen-Kornzweig Disease 49 55
Fhbl 49 24
Hypobetalipoproteinemia, Familial, Apolipoprotein B 69
Hypobetalipoproteinemia, Familial 49
Bassen Kornzweig Syndrome 49
Hypobetalipoproteinemias 69
Hypobetalipoproteinemia 24

Characteristics:

Orphanet epidemiological data:

55
abetalipoproteinemia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
abetalipoproteinemia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 200100
Disease Ontology 12 DOID:1386
ICD10 32 E78.6
MeSH 41 D000012
NCIt 46 C84525
SNOMED-CT 64 190787008 83123000
Orphanet 55 ORPHA14
MESH via Orphanet 42 D000012
UMLS via Orphanet 70 C0000744
ICD10 via Orphanet 33 E78.6
MedGen 39 C0000744
KEGG 36 H00160

Summaries for Abetalipoproteinemia

NIH Rare Diseases : 49 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. Last updated: 3/22/2016

MalaCards based summary : Abetalipoproteinemia, also known as acanthocytosis, is related to hypobetalipoproteinemia, familial, 1 and chylomicron retention disease, and has symptoms including ataxia, muscular hypotonia and malabsorption. 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 Decreased free cholesterol and Increased LDL uptake

OMIM : 53 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)

UniProtKB/Swiss-Prot : 71 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.

Genetics Home Reference : 24 Abetalipoproteinemia is an inherited disorder that affects the absorption of dietary fats, cholesterol, and fat-soluble vitamins. People affected by this disorder are not able to make certain lipoproteins, which are particles that carry fats and fat-like substances (such as cholesterol) in the blood. Specifically, people with abetalipoproteinemia are missing a group of lipoproteins called beta-lipoproteins. An inability to make beta-lipoproteins causes severely reduced absorption (malabsorption) of dietary fats and fat-soluble vitamins (vitamins A, D, E, and K) from the digestive tract into the bloodstream. Sufficient levels of fats, cholesterol, and vitamins are necessary for normal growth, development, and maintenance of the body's cells and tissues, particularly nerve cells and tissues in the eye.

Disease Ontology : 12 A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has physical basis in an autosomal recessive disorder of lipid metabolism that has material basis in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL).

Wikipedia : 72 Acanthocyte (from the Greek word ἄκανθα acantha, meaning \'thorn\'), in biology and medicine, refers to... more...

Related Diseases for Abetalipoproteinemia

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

(showing 103, show less)
# Related Disease Score Top Affiliating Genes
1 hypobetalipoproteinemia, familial, 1 31.4 ANGPTL3 APOA1 APOB APOE LCAT MTTP
2 chylomicron retention disease 31.3 APOA1 APOB MTTP SAR1B
3 mitochondrial trifunctional protein deficiency 31.3 HADHA HADHB
4 homozygous familial hypercholesterolemia 29.9 APOB APOE LPL
5 hypolipoproteinemia 29.3 ANGPTL3 APOA1 APOB APOE LCAT LPL
6 hypercholesterolemia, familial 28.6 APOA1 APOB APOE CETP LCAT LPL
7 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration 12.3
8 choreoacanthocytosis 12.1
9 wolman disease with hypolipoproteinemia and acanthocytosis 12.0
10 atypical chronic myeloid leukemia 11.7
11 leukemia, chronic myeloid 11.7
12 mcleod syndrome 11.6
13 chronic neutrophilic leukemia 11.0
14 fibrosis of extraocular muscles, congenital, 1 10.9
15 hypobetalipoproteinemia, familial, 2 10.9
16 cervical cancer 10.9
17 myocardial infarction 10.9
18 bronchiolitis 10.9
19 infertility 10.9
20 pseudocholinesterase deficiency 10.8
21 leukemia 10.8
22 male infertility 10.7
23 newborn respiratory distress syndrome 10.7
24 spinal muscular atrophy 10.7
25 xanthoma disseminatum 10.4 APOB APOE
26 hypercholesterolemia, autosomal dominant, type b 10.4 APOB APOE
27 sea-blue histiocyte disease 10.4 APOE LCAT
28 apo a-i deficiency 10.4 APOA1 LCAT
29 hyperlipoproteinemia, type v 10.4 APOE LPL
30 fish-eye disease 10.3 APOA1 LCAT
31 cerebral atherosclerosis 10.3 APOA1 APOE
32 schnyder corneal dystrophy 10.3 APOB APOE
33 dysbaric osteonecrosis 10.3 APOA1 APOB
34 recurrent acute pancreatitis 10.3 APOE LPL
35 defective apolipoprotein b-100 10.3 APOB APOE LCAT
36 lipoprotein glomerulopathy 10.3 APOB APOE LCAT
37 amyloidosis aa 10.2 APOA1 LCAT
38 central nervous system disease 10.2
39 nervous system disease 10.2
40 xanthomatosis 10.2 APOB APOE LPL
41 leukodystrophy, hypomyelinating, 3 10.2 APOA1 APOB APOE
42 familial lcat deficiency 10.2 APOA1 APOE LCAT
43 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 10.2 HADHA MTTP
44 carotid artery disease 10.2 APOA1 APOB APOE
45 abdominal obesity-metabolic syndrome 1 10.2 LEP MTTP
46 hepatic lipase deficiency 10.2 APOA1 APOE LPL
47 arteriosclerosis 10.1 APOA1 APOB APOE
48 cerebrovascular disease 10.1 APOA1 APOB APOE
49 fatty liver disease 10.1 APOB LEP MTTP
50 inherited metabolic disorder 10.1 APOA1 APOB LEP
51 aortic atherosclerosis 10.1 APOE CETP
52 vitamin e, familial isolated deficiency of 10.1 APOA1 APOB TTPA
53 cholesterol ester storage disease 10.1 APOB HADHA
54 hepatitis 10.0
55 neuropathy 10.0
56 hyperlipoproteinemia, type iv 10.0 APOA1 APOB APOE LPL
57 ischemic heart disease 10.0 APOA1 APOB APOE LPL
58 hyperlipidemia, familial combined 10.0 APOA1 APOB APOE LPL
59 angioid streaks 10.0
60 rickets 10.0
61 coronary stenosis 9.9 APOA1 APOB APOE CETP
62 fetal macrosomia 9.9 APOA1 APOB LCAT LEP
63 gallbladder disease 9.9 APOA1 APOB APOE CETP
64 ataxia and polyneuropathy, adult-onset 9.9
65 prediabetes syndrome 9.9 APOB LEP
66 hypertension, essential 9.9 APOA1 APOB LEP LPL
67 arcus corneae 9.8 APOA1 APOB APOE CETP LCAT
68 tangier disease 9.8 APOA1 APOB APOE CETP LCAT
69 hypoalphalipoproteinemia, primary 9.7 APOA1 APOB CETP LCAT LPL
70 hypertriglyceridemia, familial 9.7 APOA1 APOB APOE CETP LPL
71 hyperlipoproteinemia, type iii 9.7 APOA1 APOB APOE CETP LPL
72 acrodermatitis enteropathica, zinc-deficiency type 9.7
73 dubin-johnson syndrome 9.7
74 retinitis pigmentosa 9.7
75 hypercholesterolemia, autosomal dominant, 3 9.7
76 leber congenital amaurosis 4 9.7
77 bulimia nervosa 2 9.7
78 episodic pain syndrome, familial, 1 9.7
79 vitamin k deficiency hemorrhagic disease 9.7
80 hypogonadism 9.7
81 acrodermatitis 9.7
82 adenocarcinoma 9.7
83 retinitis 9.7
84 myopathy 9.7
85 pneumonia 9.7
86 chorioretinitis 9.7
87 ataxia with vitamin e deficiency 9.7
88 enteropathica 9.7
89 glioblastoma 9.7
90 tremor 9.7
91 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 9.7
92 coronary artery anomaly 9.7 APOA1 APOB APOE CETP LPL
93 vascular disease 9.7 APOA1 APOB APOE CETP LPL
94 acyl-coa dehydrogenase, very long-chain, deficiency of 9.7 HADHA HADHB
95 arteries, anomalies of 9.7 APOA1 APOB APOE CETP LEP
96 hyperalphalipoproteinemia 1 9.5 APOA1 APOB APOE CETP LCAT LPL
97 lecithin:cholesterol acyltransferase deficiency 9.5 APOA1 APOB APOE CETP LCAT LPL
98 familial hyperlipidemia 9.5 APOA1 APOB APOE CETP LCAT LPL
99 coronary heart disease 1 9.4 APOA1 APOB APOE CETP LCAT LPL
100 atherosclerosis susceptibility 9.3 ANGPTL3 APOA1 APOB APOE CETP LPL
101 body mass index quantitative trait locus 11 9.2 APOA1 APOB APOE CETP LEP LPL
102 lipid metabolism disorder 9.1 APOA1 APOB APOE CETP LCAT LEP
103 diabetes mellitus, noninsulin-dependent 9.0 APOA1 APOB APOE CETP LCAT LEP

Graphical network of the top 20 diseases related to Abetalipoproteinemia:



Diseases related to Abetalipoproteinemia

Symptoms & Phenotypes for Abetalipoproteinemia

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
ataxia

Abdomen Gastroin testinal:
fat malabsorption

Laboratory Abnormalities:
abetalipoproteinemia

Head And Neck Eyes:
retinopathy

Hematology:
acanthocytosis
burr-cells

Neurologic Peripheral Nervous System:
demyelination


Clinical features from OMIM:

200100

Human phenotypes related to Abetalipoproteinemia:

55 31 (showing 14, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 frequent (33%) Frequent (79-30%) HP:0001251
2 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
3 malabsorption 55 31 hallmark (90%) Very frequent (99-80%) HP:0002024
4 visual impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000505
5 abnormality of retinal pigmentation 55 31 frequent (33%) Frequent (79-30%) HP:0007703
6 abnormality of movement 55 31 frequent (33%) Frequent (79-30%) HP:0100022
7 reduced tendon reflexes 55 31 frequent (33%) Frequent (79-30%) HP:0001315
8 retinopathy 31 HP:0000488
9 peripheral demyelination 31 HP:0011096
10 fat malabsorption 31 HP:0002630
11 acanthocytosis 31 HP:0001927
12 retinal degeneration 31 HP:0000546
13 abetalipoproteinemia 31 HP:0008181
14 cns demyelination 31 HP:0007305

UMLS symptoms related to Abetalipoproteinemia:


ataxia

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

25 (showing 2, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.35 APOA1 APOB APOE CETP LPL
2 Increased LDL uptake GR00340-A-1 8.8 APOA1 APOE LPL

MGI Mouse Phenotypes related to Abetalipoproteinemia:

43 (showing 5, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.96 APOA1 APOB APOE HADHA HADHB LCAT
2 homeostasis/metabolism MP:0005376 9.93 HADHB LCAT LEP LPL MTTP SAR1B
3 adipose tissue MP:0005375 9.72 ANGPTL3 APOE HADHB LEP LPL
4 liver/biliary system MP:0005370 9.65 ANGPTL3 APOA1 APOB APOE HADHA HADHB
5 muscle MP:0005369 9.17 APOB APOE HADHA HADHB LEP LPL

Drugs & Therapeutics for Abetalipoproteinemia

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

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

Interventional clinical trials:

(showing 9, show less)

# 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 Not Applicable
7 Lipoprotein Metabolism in Normal Volunteers and Patients With High Levels of Lipoproteins Recruiting NCT00001154
8 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
9 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 Abetalipoproteinemia 28
2 Acanthocytosis 28

Anatomical Context for Abetalipoproteinemia

MalaCards organs/tissues related to Abetalipoproteinemia:

38
Eye, Liver, Brain, Spinal Cord, Skeletal Muscle

Publications for Abetalipoproteinemia

Articles related to Abetalipoproteinemia:

(showing 256, show less)
# Title Authors Year
1
Clinical and biochemical characteristics of individuals with low cholesterol syndromes: AA comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia. ( 28733173 )
2017
2
A tale of 2 cousins: An atypical and a typical case of abetalipoproteinemia. ( 27578136 )
2016
3
Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects. ( 27487388 )
2016
4
Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B. ( 26612772 )
2016
5
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 )
2016
6
Characterization of a mutant form of human apolipoprotein B (Thr26_Tyr27del) associated with familial hypobetalipoproteinemia. ( 26825690 )
2016
7
Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia. ( 27179706 )
2016
8
Lipoprotein metabolism in an apoB-80 familial hypobetalipoproteinemia heterozygote. ( 26916057 )
2016
9
Clinical and genetic analysis of a family diagnosed with familial hypobetalipoproteinemia in which the proband was diagnosed with diabetes mellitus. ( 25733326 )
2015
10
SPG11 mutation in a Turkish familial hypobetalipoproteinemia family with hereditary spastic paraplegia. ( 25769290 )
2015
11
Lipoprotein Metabolism in APOB L343V Familial Hypobetalipoproteinemia. ( 26323024 )
2015
12
Fat accumulation in enterocytes: a key to the diagnosis of abetalipoproteinemia or homozygous hypobetalipoproteinemia. ( 26062159 )
2015
13
The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations. ( 26073401 )
2015
14
Homozygous familial hypobetalipoproteinemia: two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature. ( 25618028 )
2015
15
Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal I^-Barrel in Microsomal Triglyceride Transfer Protein Function. ( 26224785 )
2015
16
An Infant with Chronic Diarrhoea and Failure to Thrive: Familial Hypobetalipoproteinemia. ( 26816882 )
2015
17
Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia. ( 25763510 )
2015
18
A Male Infant with Abetalipoproteinemia: A Case Report from Iran. ( 26396722 )
2015
19
Macular atrophy in a case of abetalipoproteinemia as only ocular clinical feature. ( 26040232 )
2015
20
Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia. ( 26086616 )
2015
21
Clinical, hematological, and imaging observations in a 25-year-old woman with abetalipoproteinemia. ( 24753676 )
2014
22
Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia. ( 24139731 )
2014
23
Hypobetalipoproteinemia and abetalipoproteinemia. ( 24751931 )
2014
24
Novel missense MTTP gene mutations causing abetalipoproteinemia. ( 25108285 )
2014
25
A successful spontaneous pregnancy in abetalipoproteinemia: Amsterdam or the art of vitamin replacement? ( 25488886 )
2014
26
Inhibitory effects of in vivo oxidized high-density lipoproteins on platelet aggregation: evidence from patients with abetalipoproteinemia. ( 23507868 )
2013
27
Familial hypobetalipoproteinemia: analysis of three Spanish cases with two new mutations in the APOB gene. ( 24001780 )
2013
28
Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene. ( 23556456 )
2013
29
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia. ( 23475612 )
2013
30
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia. ( 23043934 )
2013
31
Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. ( 24288038 )
2013
32
Knee pain: an unanticipated finding related to a rare genetic disorder--abetalipoproteinemia. ( 24170593 )
2013
33
Deep brain stimulation for the treatment of tremor and ataxia associated with abetalipoproteinemia. ( 23440258 )
2012
34
Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation. ( 22155345 )
2012
35
Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia. ( 22150066 )
2012
36
Ataxia with vitamin E deficiency and abetalipoproteinemia. ( 21827896 )
2012
37
Chronic adrenal failure and hypergonadotropic hypogonadism in a patient with abetalipoproteinemia. ( 23090820 )
2012
38
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia. ( 22236406 )
2012
39
Familial hypobetalipoproteinemia-induced nonalcoholic steatohepatitis. ( 22855658 )
2012
40
Abetalipoproteinemia in a Saudi infant. ( 21333248 )
2011
41
Familial hypobetalipoproteinemia in a hospital survey: genetics, metabolism and non-alcoholic fatty liver disease. ( 21502677 )
2011
42
Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia. ( 21502686 )
2011
43
A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP). ( 21394827 )
2011
44
Red cells in abetalipoproteinemia. ( 21534356 )
2011
45
Rickets and dysmorphic findings in a child with abetalipoproteinemia. ( 21484009 )
2011
46
Disc swelling in abetalipoproteinemia: a novel feature of Bassen-Kornzweig syndrome. ( 21484752 )
2011
47
New mutations in APOB100 involved in familial hypobetalipoproteinemia. ( 21122650 )
2010
48
Dissociation between intrahepatic triglyceride content and insulin resistance in familial hypobetalipoproteinemia. ( 20303351 )
2010
49
Abetalipoproteinemia in an infant with severe clinical phenotype and a novel mutation. ( 20402070 )
2010
50
Rickets and dysmorphic findings in a child with abetalipoproteinemia. ( 20953537 )
2010
51
Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B. ( 20032471 )
2010
52
Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function. ( 20592474 )
2010
53
PCSK9 dominant negative mutant results in increased LDL catabolic rate and familial hypobetalipoproteinemia. ( 19762784 )
2009
54
Recurrent familial hypobetalipoproteinemia-induced nonalcoholic fatty liver disease after living donor liver transplantation. ( 19562718 )
2009
55
[Familial hypobetalipoproteinemia: clinical characterization of a new mutation in the APOB gene]. ( 19442995 )
2009
56
Morphological diagnosis of abetalipoproteinemia and the importance of a freshly prepared peripheral smear. ( 19552676 )
2009
57
Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia. ( 19056372 )
2009
58
Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia. ( 19084451 )
2009
59
Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases. ( 19066957 )
2009
60
Familial hypobetalipoproteinemia: early neurological, hematological, and ocular manifestations in two affected twins responding to vitamin supplementation. ( 19773654 )
2009
61
Familial hypobetalipoproteinemia due to apolipoprotein B R463W mutation causes intestinal fat accumulation and low postprandial lipemia. ( 19344897 )
2009
62
Abetalipoproteinemia: two case reports and literature review. ( 18611256 )
2008
63
Familial hypobetalipoproteinemia in a Turkish family with hereditary spastic paraplegia. ( 18261467 )
2008
64
Maternal abetalipoproteinemia resulting in multiple fetal anomalies. ( 18784430 )
2008
65
Familial defective apolipoprotein B and familial hypobetalipoproteinemia in one family: two neutralizing mutations. ( 18458293 )
2008
66
Abetalipoproteinemia. ( 18367944 )
2008
67
Abetalipoproteinemia complicating the puerperium. ( 18239027 )
2008
68
Familial hypobetalipoproteinemia due to a novel early stop mutation. ( 21291764 )
2008
69
[Familial hypobetalipoproteinemia secondary to a mutation in the apolipoprotein B gene]. ( 17517208 )
2007
70
Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient. ( 17275380 )
2007
71
Postprandial lipoprotein metabolism in familial hypobetalipoproteinemia. ( 17213276 )
2007
72
Novel mutation (c.G1124A) in exon 9 of the APOB gene causes aberrant splicing and familial hypobetalipoproteinemia. ( 17517592 )
2007
73
Abetalipoproteinemia induced by overexpression of ORP150 in mice. ( 17605339 )
2007
74
Missense mutations in APOB within the betaalpha1 domain of human APOB-100 result in impaired secretion of ApoB and ApoB-containing lipoproteins in familial hypobetalipoproteinemia. ( 17588943 )
2007
75
Fat-soluble vitamin deficiency in pregnancy: a case report and review of abetalipoproteinemia. ( 17022912 )
2006
76
Autopsy case of Dubin-Johnson syndrome with pneumonia and abetalipoproteinemia-like lipid profile. ( 16835471 )
2006
77
Assessment of tocopherol metabolism and oxidative stress in familial hypobetalipoproteinemia. ( 16728468 )
2006
78
Abetalipoproteinemia: importance of the peripheral blood smear. ( 15765527 )
2005
79
An MCA/MR syndrome with hypocholesterolemia due to familial hypobetalipoproteinemia: report of a second patient with Nguyen syndrome. ( 16088930 )
2005
80
Hepatic and cardiovascular consequences of familial hypobetalipoproteinemia. ( 16002743 )
2005
81
Absence of fatty liver in familial hypobetalipoproteinemia linked to chromosome 3p21. ( 15877300 )
2005
82
Familial hypobetalipoproteinemia: genetics and metabolism. ( 15818469 )
2005
83
Pediatric gallstone disease in familial hypobetalipoproteinemia. ( 15894400 )
2005
84
Liver dysfunction and steatosis in familial hypobetalipoproteinemia. ( 15514099 )
2005
85
[Hepatic steatosis associated with heterozygotic familial hypobetalipoproteinemia]. ( 15056412 )
2004
86
Oxidative stress in abetalipoproteinemia patients receiving long-term vitamin E and vitamin A supplementation. ( 14749227 )
2004
87
The c.419-420insA in the MTP gene is associated with abetalipoproteinemia among French-Canadians. ( 14741197 )
2004
88
Endocrine function in abetalipoproteinemia: a study of a female patient of Greek origin. ( 15960365 )
2004
89
Fatty liver in familial hypobetalipoproteinemia: roles of the APOB defects, intra-abdominal adipose tissue, and insulin sensitivity. ( 14967820 )
2004
90
Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia. ( 12630961 )
2003
91
Fatty liver in familial hypobetalipoproteinemia: triglyceride assembly into VLDL particles is affected by the extent of hepatic steatosis. ( 12562873 )
2003
92
A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia. ( 12551903 )
2003
93
Familial hypobetalipoproteinemia: a review. ( 12639976 )
2003
94
Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia. ( 12872264 )
2003
95
[Familial hypobetalipoproteinemia]. ( 12781120 )
2003
96
Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB splice site mutation. ( 11940084 )
2002
97
Abetalipoproteinemia-like lipid profile and acanthocytosis in a young woman with anorexia nervosa. ( 12449451 )
2002
98
Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia. ( 12124991 )
2002
99
Replication of linkage of familial hypobetalipoproteinemia to chromosome 3p in six kindreds. ( 11893777 )
2002
100
Clinical characterization of a case with familial hypobetalipoproteinemia caused by apo B-76, a new truncation of apolipoprotein B, combined with apo E2/E2 phenotype. ( 11688825 )
2001
101
Abetalipoproteinemia: a case report. ( 11592517 )
2001
102
Apolipoprotein B48 glycosylation in abetalipoproteinemia and Anderson's disease. ( 11677202 )
2001
103
Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene. ( 11590210 )
2001
104
Clinical quiz. Abetalipoproteinemia. ( 11345181 )
2001
105
Rickets as an unusual initial presentation of abetalipoproteinemia and hypobetalipoproteinemia. ( 11308051 )
2001
106
The role of the microsomal triglygeride transfer protein in abetalipoproteinemia. ( 10940349 )
2000
107
Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia. ( 10946006 )
2000
108
A study of fatty liver disease and plasma lipoproteins in a kindred with familial hypobetalipoproteinemia due to a novel truncated form of apolipoprotein B (APO B-54.5). ( 11019990 )
2000
109
[Microsomal triglyceride transfer protein and abetalipoproteinemia]. ( 10891663 )
2000
110
Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22. ( 10762553 )
2000
111
Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia. ( 10679949 )
2000
112
Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene. ( 10446076 )
1999
113
Liver-specific inactivation of the abetalipoproteinemia gene completely abrogates very low density lipoprotein/low density lipoprotein production in a viable conditional knockout mouse. ( 10037685 )
1999
114
Decreased production rates of VLDL triglycerides and ApoB-100 in subjects heterozygous for familial hypobetalipoproteinemia. ( 10559016 )
1999
115
A gene-targeted mouse model for familial hypobetalipoproteinemia. Low levels of apolipoprotein B mRNA in association with a nonsense mutation in exon 26 of the apolipoprotein B gene. ( 9852051 )
1998
116
Dual mechanisms for the low plasma levels of truncated apolipoprotein B proteins in familial hypobetalipoproteinemia. Analysis of a new mouse model with a nonsense mutation in the Apob gene. ( 9502790 )
1998
117
Genetic heterogeneity in familial hypobetalipoproteinemia: linkage and non-linkage to the apoB gene in Caucasian families. ( 9508071 )
1998
118
Helicoid peripapillary chorioretinal degeneration in abetalipoproteinemia. ( 9488285 )
1998
119
Knockout of the abetalipoproteinemia gene in mice: reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes. ( 9671739 )
1998
120
Diabetes mellitus in a new kindred with familial hypobetalipoproteinemia and an apolipoprotein B truncation (apoB-55). ( 9543100 )
1998
121
Donor splice mutation (665 + 1 G_T) in familial hypobetalipoproteinemia with no detectable apoB truncation. ( 9843041 )
1998
122
Pathological case of the month. Abetalipoproteinemia (Bassen-Kornzweig syndrome). ( 9412607 )
1997
123
Metabolism of apolipoprotein B-100 in a kindred with familial hypobetalipoproteinemia without a truncated form of apoB. ( 9101440 )
1997
124
Fatty liver in a case with heterozygous familial hypobetalipoproteinemia. ( 9040220 )
1997
125
Heterozygous familial hypobetalipoproteinemia associated with fatty liver. ( 9260828 )
1997
126
A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase. ( 8939939 )
1996
127
A new apolipoprotein B truncation (apo B-43.7) in familial hypobetalipoproteinemia: genetic and metabolic studies. ( 8843188 )
1996
128
Translocation of apolipoprotein B across the endoplasmic reticulum is blocked in abetalipoproteinemia. ( 8808765 )
1996
129
Abetalipoproteinemia in an Indian family. ( 10830000 )
1996
130
Homozygous familial hypobetalipoproteinemia. Increased LDL catabolism in hypobetalipoproteinemia due to a truncated apolipoprotein B species, apo B-87Padova. ( 8792774 )
1996
131
A 30-amino acid truncation of the microsomal triglyceride transfer protein large subunit disrupts its interaction with protein disulfide-isomerase and causes abetalipoproteinemia. ( 7782284 )
1995
132
Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. ( 8533758 )
1995
133
Lipoproteins containing apolipoprotein B isolated from patients with abetalipoproteinemia and homozygous hypobetalipoproteinemia: identification and characterization. ( 8770313 )
1995
134
Familial hypobetalipoproteinemia associated with hypothyroidism. ( 8580561 )
1995
135
Familial hypobetalipoproteinemia is not associated with low levels of lipoprotein(a). ( 7489238 )
1995
136
Angioid streaks associated with abetalipoproteinemia. ( 7749670 )
1994
137
The abetalipoproteinemia gene is a member of the vitellogenin family and encodes an alpha-helical domain. ( 7664034 )
1994
138
The molecular basis of abetalipoproteinemia. ( 8044420 )
1994
139
In vivo metabolism of apolipoproteins A-I and E in patients with abetalipoproteinemia: implications for the roles of apolipoproteins B and E in HDL metabolism. ( 7852858 )
1994
140
Abetalipoproteinemia presenting with congestive cardiac failure. ( 7896372 )
1994
141
Microsomal triglyceride transfer protein, the abetalipoproteinemia gene product, mediates the secretion of apolipoprotein B-containing lipoproteins from heterologous cells. ( 8071315 )
1994
142
Discrimination between RRR- and all-racemic-alpha-tocopherols labeled with deuterium by patients with abetalipoproteinemia. ( 7980705 )
1994
143
Histochemical and ultrastructural pathology of skeletal muscle in a patient with abetalipoproteinemia. ( 8310805 )
1993
144
Genetic exclusion of apo-B gene in recessive abetalipoproteinemia. ( 8422264 )
1993
145
Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein. ( 8111381 )
1993
146
Familial hypobetalipoproteinemia. ( 8496659 )
1993
147
Characterization of serum lipoproteins from Suncus: a candidate animal model for abetalipoproteinemia. ( 8370676 )
1993
148
Is microsomal triglyceride transfer protein the missing link in abetalipoproteinemia? ( 8340078 )
1993
149
Abetalipoproteinemia. New insights into lipoprotein assembly and vitamin E metabolism from a rare genetic disease. ( 8340987 )
1993
150
Familial hypobetalipoproteinemia--differences in lipoprotein structure and composition. ( 8311419 )
1993
151
A novel truncated apolipoprotein B (apo B55) in a patient with familial hypobetalipoproteinemia and atypical retinitis pigmentosa. ( 1424233 )
1992
152
ApoB-75, a truncation of apolipoprotein B associated with familial hypobetalipoproteinemia: genetic and kinetic studies. ( 1431583 )
1992
153
Receptor-dependent and -independent catabolism of low-density lipoprotein in a kindred with familial hypobetalipoproteinemia. ( 1640842 )
1992
154
Genetic analysis of a Japanese family with normotriglyceridemic abetalipoproteinemia indicates a lack of linkage to the apolipoprotein B gene. ( 1731805 )
1992
155
Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. ( 1439810 )
1992
156
Apolipoprotein C-II and C-III metabolism in a kindred of familial hypobetalipoproteinemia. ( 1984570 )
1991
157
ApoB gene nonsense and splicing mutations in a compound heterozygote for familial hypobetalipoproteinemia. ( 1770316 )
1991
158
Molecular and metabolic basis for the metabolic disorder normotriglyceridemic abetalipoproteinemia. ( 1939657 )
1991
159
A truncated species of apolipoprotein B (B67) in a kindred with familial hypobetalipoproteinemia. ( 2022744 )
1991
160
Abnormal platelet functions in a patient with abetalipoproteinemia. ( 1904656 )
1991
161
Intestinal and hepatic apolipoprotein B gene expression in abetalipoproteinemia. ( 2065927 )
1991
162
Molecular species of cholesteryl esters formed in abetalipoproteinemia: effect of apoprotein B-containing lipoproteins. ( 2380639 )
1990
163
Abetalipoproteinemia with an ApoB-100-lipoprotein(a) glycoprotein complex in plasma. Indication for an assembly defect. ( 2295628 )
1990
164
Exclusion of linkage between the human apolipoprotein B gene and abetalipoproteinemia. ( 2339706 )
1990
165
Description of two different patients with abetalipoproteinemia: synthesis of a normal-sized apolipoprotein B-48 in intestinal organ culture. ( 2179443 )
1990
166
Familial hypobetalipoproteinemia caused by a mutation in the apolipoprotein B gene that results in a truncated species of apolipoprotein B (B-31). A unique mutation that helps to define the portion of the apolipoprotein B molecule required for the formation of buoyant, triglyceride-rich lipoproteins. ( 2312735 )
1990
167
Serial somatosensory evoked potentials in a patient with familial hypobetalipoproteinemia, and vitamin E deficiency. ( 1966249 )
1990
168
Molecular species of phosphatidylcholine in abetalipoproteinemia: effect of lecithin:cholesterol acyltransferase and lysolecithin acyltransferase. ( 2621418 )
1989
169
Hepatic peroxisomal abnormalities in abetalipoproteinemia. ( 2753336 )
1989
170
Angioid streaks associated with abetalipoproteinemia. ( 2787138 )
1989
171
Familial hypobetalipoproteinemia associated with a mutant species of apolipoprotein B (B-46). ( 2725600 )
1989
172
Increased urinary mevalonic acid excretion in patients with abetalipoproteinemia and homozygous hypobetalipoproteinemia. ( 2920062 )
1989
173
Substrate specificity of plasma lecithin: cholesterol acyltransferase in abetalipoproteinemia. ( 3421144 )
1988
174
Peripheral relaxin levels during pregnancy in a woman with homozygous familial hypobetalipoproteinemia. ( 3181494 )
1988
175
In vivo evidence for cholesterol ester and triglyceride exchange between high density lipoprotein and infused triglyceride rich particles in abetalipoproteinemia. ( 3223418 )
1988
176
Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia. ( 2903181 )
1988
177
Abetalipoproteinemia or Bassen-Kornzweig syndrome. Clinical, biochemical and electrophysiological features of two cases. ( 3206997 )
1988
178
Neutral lipid transfer activities in the plasma of patients with abetalipoproteinemia. ( 3377877 )
1988
179
Genetic analysis of a kindred with familial hypobetalipoproteinemia. Evidence for two separate gene defects: one associated with an abnormal apolipoprotein B species, apolipoprotein B-37; and a second associated with low plasma concentrations of apolipoprotein B-100. ( 3473077 )
1987
180
Abetalipoproteinemia associated with hepatic and atypical neurological disorders. ( 3694376 )
1987
181
Characterization of an abnormal species of apolipoprotein B, apolipoprotein B-37, associated with familial hypobetalipoproteinemia. ( 3584472 )
1987
182
Lipid composition and lipolytic activities in milk from a patient with homozygous familial hypobetalipoproteinemia. ( 3565300 )
1987
183
The influence of plasma lipoproteins from patients with abetalipoproteinemia on cellular cholesterol esterification. ( 3689473 )
1987
184
Confusing reporting in abetalipoproteinemia. ( 3631927 )
1987
185
Absence of intestinal synthesis of apolipoprotein B-48 in two cases of abetalipoproteinemia. ( 3653634 )
1987
186
Angioid streaks associated with abetalipoproteinemia. Case report. ( 3632434 )
1987
187
Analysis of the apolipoprotein B gene and messenger ribonucleic acid in abetalipoproteinemia. ( 3782476 )
1986
188
Vitamin E deficiency in neuropathy of abetalipoproteinemia. ( 3012411 )
1986
189
Epitopes of apolipoprotein B-100 and B-48 in both liver and intestine. Expression and evidence for local synthesis in recessive abetalipoproteinemia. ( 2429992 )
1986
190
Electrophysiologic features of abetalipoproteinemia: functional consequences of vitamin E deficiency. ( 3010179 )
1986
191
Abetalipoproteinemia. A case report. ( 3832509 )
1985
192
Peripheral neuropathy in abetalipoproteinemia. ( 2991816 )
1985
193
Primary aberrant regeneration of the oculomotor nerve. Occurrence in a patient with abetalipoproteinemia. ( 4026621 )
1985
194
Platelet function in a case with abetalipoproteinemia. ( 4084361 )
1985
195
Normotriglyceridemic abetalipoproteinemia in infancy: an isolated apolipoprotein B-100 deficiency. ( 3975124 )
1985
196
Somatosensory evoked potentials in abetalipoproteinemia. ( 2578350 )
1985
197
Arrest of neuropathy and myopathy in abetalipoproteinemia with high-dose vitamin E therapy. ( 2981135 )
1985
198
Vitamin A and vitamin E replacement in abetalipoproteinemia. ( 6691669 )
1984
199
Abetalipoproteinemia. Report of an unusual patient. ( 6472810 )
1984
200
Alterations in erythrocyte membrane lipids in abetalipoproteinemia: phospholipid and fatty acyl composition. ( 6497872 )
1984
201
Morphologic features of the liver in abetalipoproteinemia. ( 6500514 )
1984
202
Electrophysiological studies in five cases of abetalipoproteinemia. ( 6704795 )
1984
203
Abetalipoproteinemia and metastatic spinal cord glioblastoma. ( 6326713 )
1984
204
Ocular abnormalities in abetalipoproteinemia. A clinicopathologic correlation. ( 6493710 )
1984
205
Cholesterol turnover and metabolism in two patients with abetalipoproteinemia. ( 6668452 )
1983
206
Lipoprotein lipase and hepatic lipase activity after heparin administration in abetalipoproteinemia and hypobetalipoproteinemia. ( 6888269 )
1983
207
A case report of abetalipoproteinemia (Bassen-Kornzweig syndrome)--the first case in Japan. ( 6620711 )
1983
208
Regulation of low density lipoprotein receptors by plasma lipoproteins from patients with abetalipoproteinemia. ( 6304711 )
1983
209
Regulation of cholesterol synthesis by plasma lipoproteins from patients with abetalipoproteinemia. ( 6318779 )
1983
210
Corticosteroid production in abetalipoproteinemia: evidence for an impaired response ACTH. ( 6283000 )
1982
211
Role of apolipoprotein E-containing lipoproteins in abetalipoproteinemia. ( 6294137 )
1982
212
Abnormal high density lipoproteins of abetalipoproteinemia: relevance to normal HDL metabolism. ( 7161557 )
1982
213
Hormone changes during the menstrual cycle in abetalipoproteinemia: reduced luteal phase progesterone in a patient with homozygous hypobetalipoproteinemia. ( 6959145 )
1982
214
Effect of large oral doses of vitamin E on the neurological sequelae of patients with abetalipoproteinemia. ( 6959555 )
1982
215
Abetalipoproteinemia-a case report. ( 6973052 )
1981
216
Importance of cholesterol-phospholipid interaction in determining dynamics of normal and abetalipoproteinemia red blood cell membrane. ( 6168375 )
1981
217
Normotriglyceridemic abetalipoproteinemia. absence of the B-100 apolipoprotein. ( 7229035 )
1981
218
The neuropathy of abetalipoproteinemia. ( 6153056 )
1980
219
Is essential fatty acid deficiency part of the syndrome of abetalipoproteinemia? ( 7422151 )
1980
220
Abetalipoproteinemia presenting as severe vitamin K deficiency. ( 7355018 )
1980
221
Lipid metabolism in abetalipoproteinemia: a study of cholesterol absorption and sterol balance in two patients. ( 7350037 )
1980
222
Abetalipoproteinemia. Report of two cases and review of therapy. ( 7425890 )
1980
223
Impaired cortisol secretion in abetalipoproteinemia. ( 6246140 )
1980
224
Immunofluorescence studies of apolipoprotein B in intestinal mucosa. Absence in abetalipoproteinemia. ( 365664 )
1979
225
Sterol balance in abetalipoproteinemia: studies in a patient with homozygous familial hypobetalipoproteinemia. ( 491973 )
1979
226
A clinical and neurophysiological investigation of a Danish kindred with heterozygous familial hypobetalipoproteinemia. ( 419983 )
1979
227
Metabolic studies in an unusual case of asymptomatic familial hypobetalipoproteinemia with hypolphalipoproteinemia and fasting chylomicronemia. ( 221546 )
1979
228
Abetalipoproteinemia treated with parenteral and oral vitamins A and E, and with medium chain triglycerides. ( 716878 )
1978
229
Abetalipoproteinemia and hypobetalipoproteinemia: what is the primary defect? ( 735924 )
1978
230
Endoscopic assessment in abetalipoproteinemia (Bassen-Kornzweig-syndrome). ( 631097 )
1978
231
Familial hypobetalipoproteinemia. Absence of atherosclerosis in a postmortem study. ( 207903 )
1978
232
Regulation of cholesterol synthesis by low density lipoprotein in isolated human lymphocytes. Comparison of cells from normal subjects and patients with homozygous familial hypercholesterolemia and abetalipoproteinemia. ( 194011 )
1977
233
Turnover of apolipoprotein-B in two subjects with familial hypobetalipoproteinemia. ( 189158 )
1977
234
Abetalipoproteinemia (Bassen-Kornzweig syndrome). Muscle involvement. ( 855647 )
1977
235
Decreased fluidity of red cell membrane lipids in abetalipoproteinemia. ( 874076 )
1977
236
Abetalipoproteinemia and the eye. ( 782598 )
1976
237
Atypical retinitis pigmentosa in familial hypobetalipoproteinemia. ( 180811 )
1976
238
The genetic relationship of abetalipoproteinemia and hypobetalipoproteinemia: a report of the occurence of both diseases within the same family. ( 164511 )
1975
239
Liver ultrastructure in abetalipoproteinemia: Evolution of micronodular cirrhosis. ( 4135110 )
1974
240
Familial hypobetalipoproteinemia: report of a case with psychomotor retardation. ( 4365305 )
1974
241
A study of the abnormal lipoproteins in abetalipoproteinemia. ( 11344558 )
1974
242
Abetalipoproteinemia. ( 4719023 )
1973
243
Studies on the sedimentation rate and membrane permeability of acanthocytes in abetalipoproteinemia. ( 4785306 )
1973
244
Abetalipoproteinemia. ( 4345524 )
1972
245
Retinitis pigmentosa in abetalipoproteinemia: Effects of vitamin A. ( 5124019 )
1971
246
On the protein defect in abetalipoproteinemia. ( 5549803 )
1971
247
Abetalipoproteinemia in acrodermatitis enteropathica. ( 4995946 )
1971
248
Abetalipoproteinemia: rarity and relevance. ( 5549807 )
1971
249
Abetalipoproteinemia: metabolic, endocrine, and electron-microscopic investigations. ( 5561886 )
1971
250
The relationship between serum lipoproteins and red cell membranes in abetalipoproteinemia: deficiency of lecithin:cholesterol acyltransferase. ( 5092855 )
1971
251
Fat transport in abetalipoproteinemia. The effects of repeated infusions of beta-lipoprotein-rich plasma. ( 4976946 )
1969
252
Phospholipid and phospholipid fatty acid and aldehyde composition of red cells of patients with abetalipoproteinemia (acanthocytosis). Evidence for essential fatty acid deficiency in man. ( 5651363 )
1968
253
Abnormalities of high density lipoproteins in abetalipoproteinemia. ( 6027078 )
1967
254
Peroxidative hemolysis of red blood cells from patients with abetalipoproteinemia (acanthocytosis). ( 6023771 )
1967
255
Studies on the absorptive defect for triglyceride in abetalipoproteinemia. ( 6018748 )
1967
256
The lipoproteins and lipid transport in abetalipoproteinemia. ( 4957009 )
1966

Variations for Abetalipoproteinemia

UniProtKB/Swiss-Prot genetic disease variations for Abetalipoproteinemia:

71 (showing 8, show less)
# 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
8 MTTP p.Arg540Cys VAR_074557 rs372321643

ClinVar genetic disease variations for Abetalipoproteinemia:

6 (showing 32, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 MTTP MTP, 1-BP DEL, 215C deletion Pathogenic
2 MTTP NM_000253.3(MTTP): c.1783C> T (p.Arg595Ter) single nucleotide variant Pathogenic rs199422219 GRCh37 Chromosome 4, 100532313: 100532313
3 MTTP MTP, IVS, G-A, +5 single nucleotide variant Pathogenic
4 MTTP MTP, IVS9AS, G-A, -1 single nucleotide variant Pathogenic
5 MTTP NM_000253.3(MTTP): c.1619G> A (p.Arg540His) single nucleotide variant Pathogenic rs199422220 GRCh37 Chromosome 4, 100529984: 100529984
6 MTTP MTP, EXON 10 DEL deletion Pathogenic
7 MTTP NM_000253.3(MTTP): c.2338A> T (p.Asn780Tyr) single nucleotide variant Pathogenic rs199422221 GRCh37 Chromosome 4, 100540251: 100540251
8 MTTP NM_000253.3(MTTP): c.1769G> T (p.Ser590Ile) single nucleotide variant Pathogenic rs199422222 GRCh37 Chromosome 4, 100530134: 100530134
9 MTTP NM_000253.3(MTTP): c.2593G> T (p.Gly865Ter) single nucleotide variant Pathogenic rs146064714 GRCh37 Chromosome 4, 100543913: 100543913
10 APOB NM_000384.2(APOB): c.5263_5266delAACA (p.Asn1755Valfs) deletion Pathogenic rs281865425 GRCh37 Chromosome 2, 21234474: 21234477
11 APOB NM_000384.2(APOB): c.5463delG (p.His1822Metfs) deletion Pathogenic rs397514255 GRCh37 Chromosome 2, 21234277: 21234277
12 APOB NM_000384.2(APOB): c.3997C> T (p.Arg1333Ter) single nucleotide variant Pathogenic rs121918383 GRCh37 Chromosome 2, 21236251: 21236251
13 APOB NM_000384.2(APOB): c.5566_5567delGT (p.Val1856Cysfs) deletion Pathogenic rs121918384 GRCh37 Chromosome 2, 21234173: 21234174
14 APOB NM_000384.2(APOB): c.12181delG (p.Glu4061Argfs) deletion Pathogenic rs121918385 GRCh37 Chromosome 2, 21226113: 21226113
15 APOB APOB, EX21DEL deletion Pathogenic
16 APOB NM_000384.2(APOB): c.6253C> T (p.Arg2085Ter) single nucleotide variant Pathogenic rs121918386 GRCh37 Chromosome 2, 21233487: 21233487
17 APOB NM_000384.2(APOB): c.11905delG (p.Glu3969Asnfs) deletion Pathogenic rs387906569 GRCh37 Chromosome 2, 21227323: 21227323
18 APOB NM_000384.2(APOB): c.4352delG (p.Gly1451Valfs) deletion Pathogenic rs397514256 GRCh37 Chromosome 2, 21235388: 21235388
19 APOB NM_000384.2(APOB): c.9199delA (p.Lys3067Argfs) deletion Pathogenic rs121918387 GRCh37 Chromosome 2, 21230541: 21230541
20 APOB NM_000384.2(APOB): c.4429C> T (p.Gln1477Ter) single nucleotide variant Pathogenic rs121918389 GRCh37 Chromosome 2, 21235311: 21235311
21 APOB NM_000384.2(APOB): c.7564C> T (p.Arg2522Ter) single nucleotide variant Pathogenic rs121918390 GRCh37 Chromosome 2, 21232176: 21232176
22 APOB NM_000384.2(APOB): c.11712delC (p.Asn3904Lysfs) deletion Pathogenic rs587776852 GRCh37 Chromosome 2, 21228028: 21228028
23 APOB APOB, IVS7AS, A-G, -2 single nucleotide variant Pathogenic
24 APOB APOB, 1-BP DEL, 4432T deletion Pathogenic
25 APOB NM_000384.2(APOB): c.905-1_905dupGG duplication Pathogenic rs606231236 GRCh37 Chromosome 2, 21256390: 21256391
26 APOB NM_000384.2(APOB): c.10238delC (p.Thr3413Metfs) deletion Pathogenic rs756209187 GRCh37 Chromosome 2, 21229502: 21229502
27 MTTP NM_000253.3(MTTP): c.708_709delCA (p.His236Glnfs) deletion Pathogenic GRCh37 Chromosome 4, 100512897: 100512898
28 APOB NM_000384.2(APOB): c.10633G> T (p.Glu3545Ter) single nucleotide variant Pathogenic rs759934326 GRCh38 Chromosome 2, 21006235: 21006235
29 APOB NM_000384.2(APOB): c.5238T> G (p.Tyr1746Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 21234502: 21234502
30 APOB NM_000384.2(APOB): c.4089C> G (p.Tyr1363Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 21013287: 21013287
31 APOB NM_000384.2(APOB): c.3614_3625delATATGTATGCTAinsCTTAGG (p.His1205_Ser1543delinsProTer) indel Pathogenic GRCh38 Chromosome 2, 21015144: 21015155
32 APOB NM_000384.2(APOB): c.2786delC (p.Pro929Glnfs) deletion Pathogenic GRCh37 Chromosome 2, 21245733: 21245733

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:

(showing 12, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.56 ANGPTL3 APOA1 APOB APOE CETP HADHA
2
Show member pathways
12.57 APOA1 HADHA HADHB LEP LPL
3
Show member pathways
12.4 APOA1 APOB APOE LPL
4
Show member pathways
12 APOA1 APOB APOE LPL
5
Show member pathways
11.86 ANGPTL3 APOA1 APOB APOE CETP LCAT
6
Show member pathways
11.67 APOA1 APOB APOE
7
Show member pathways
11.63 ANGPTL3 APOA1 APOB APOE CETP LCAT
8
Show member pathways
11.22 HADHA HADHB LPL
9
Show member pathways
11.08 APOA1 APOB MTTP
10 10.89 APOA1 APOB
11 10.57 HADHA HADHB
12
Show member pathways
10.43 HADHA HADHB

GO Terms for Abetalipoproteinemia

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

(showing 14, show less)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.83 APOA1 APOE HADHA LPL P4HB
2 early endosome GO:0005769 9.81 ANGPTL3 APOA1 APOB APOE
3 endoplasmic reticulum lumen GO:0005788 9.8 APOA1 APOB APOE MTTP P4HB
4 endocytic vesicle lumen GO:0071682 9.54 APOA1 APOB APOE
5 low-density lipoprotein particle GO:0034362 9.5 APOA1 APOB APOE
6 discoidal high-density lipoprotein particle GO:0034365 9.48 APOA1 APOE
7 high-density lipoprotein particle GO:0034364 9.46 APOA1 APOE CETP LCAT
8 intermediate-density lipoprotein particle GO:0034363 9.43 APOA1 APOB APOE
9 very-low-density lipoprotein particle GO:0034361 9.26 APOA1 APOB APOE LPL
10 chylomicron GO:0042627 8.92 APOA1 APOB APOE LPL
11 extracellular exosome GO:0070062 10.13 APOA1 APOB APOE CETP HADHB LCAT
12 extracellular region GO:0005576 10.11 ANGPTL3 APOA1 APOB APOE CETP LCAT
13 extracellular space GO:0005615 10.1 ANGPTL3 APOA1 APOB APOE CETP LCAT
14 endoplasmic reticulum GO:0005783 10.01 APOB APOE HADHB MTTP P4HB SAR1B

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

(showing 52, show less)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.96 APOA1 APOB APOE P4HB
2 lipid transport GO:0006869 9.96 APOA1 APOB APOE CETP MTTP
3 steroid metabolic process GO:0008202 9.93 APOA1 APOB APOE CETP LCAT
4 phospholipid metabolic process GO:0006644 9.9 ANGPTL3 APOA1 LCAT LPL
5 fatty acid metabolic process GO:0006631 9.89 ANGPTL3 HADHA HADHB
6 retinoid metabolic process GO:0001523 9.88 APOA1 APOB APOE LPL
7 response to nutrient GO:0007584 9.86 APOA1 LEP TTPA
8 triglyceride metabolic process GO:0006641 9.85 APOE CETP LPL MTTP
9 cholesterol transport GO:0030301 9.83 APOA1 APOB CETP LCAT
10 fatty acid beta-oxidation GO:0006635 9.81 HADHA HADHB LEP
11 triglyceride catabolic process GO:0019433 9.81 APOA1 APOB APOE LPL
12 phospholipid transport GO:0015914 9.8 APOA1 CETP MTTP
13 lipoprotein metabolic process GO:0042157 9.8 APOA1 APOB APOE MTTP
14 cholesterol metabolic process GO:0008203 9.8 ANGPTL3 APOA1 APOB APOE CETP LCAT
15 lipid homeostasis GO:0055088 9.79 ANGPTL3 APOE CETP
16 cholesterol efflux GO:0033344 9.79 APOA1 APOB APOE
17 artery morphogenesis GO:0048844 9.78 ANGPTL3 APOB APOE
18 reverse cholesterol transport GO:0043691 9.78 APOA1 APOE CETP LCAT
19 low-density lipoprotein particle remodeling GO:0034374 9.77 APOB APOE CETP
20 high-density lipoprotein particle remodeling GO:0034375 9.76 APOA1 APOE CETP LCAT
21 very-low-density lipoprotein particle assembly GO:0034379 9.75 APOB MTTP P4HB
22 phospholipid homeostasis GO:0055091 9.74 ANGPTL3 APOA1 CETP
23 chylomicron remodeling GO:0034371 9.73 APOA1 APOB APOE LPL
24 lipid metabolic process GO:0006629 9.73 ANGPTL3 APOA1 APOB APOE CETP HADHA
25 triglyceride homeostasis GO:0070328 9.72 ANGPTL3 APOA1 APOE CETP LPL
26 phosphatidylcholine biosynthetic process GO:0006656 9.71 APOA1 LCAT
27 lipid storage GO:0019915 9.71 ANGPTL3 APOA1
28 lipoprotein transport GO:0042953 9.71 APOB MTTP
29 very-low-density lipoprotein particle remodeling GO:0034372 9.71 APOE CETP LCAT LPL
30 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.7 APOB LPL
31 high-density lipoprotein particle assembly GO:0034380 9.7 APOA1 APOE
32 phospholipid efflux GO:0033700 9.69 APOA1 APOE
33 phosphatidylcholine metabolic process GO:0046470 9.69 CETP LCAT
34 response to dietary excess GO:0002021 9.69 APOE LEP
35 regulation of lipoprotein lipase activity GO:0051004 9.68 ANGPTL3 LPL
36 positive regulation of cholesterol esterification GO:0010873 9.68 APOA1 APOE
37 high-density lipoprotein particle clearance GO:0034384 9.68 APOA1 APOE
38 chylomicron remnant clearance GO:0034382 9.67 APOB APOE
39 neuron projection regeneration GO:0031102 9.67 APOA1 APOE
40 vitamin transport GO:0051180 9.67 APOA1 TTPA
41 lipoprotein biosynthetic process GO:0042158 9.67 APOA1 APOB APOE LCAT
42 regulation of Cdc42 protein signal transduction GO:0032489 9.66 APOA1 APOE
43 positive regulation of cholesterol storage GO:0010886 9.66 APOB LPL
44 cardiolipin acyl-chain remodeling GO:0035965 9.65 HADHA HADHB
45 very-low-density lipoprotein particle clearance GO:0034447 9.65 APOB APOE
46 triglyceride transport GO:0034197 9.64 CETP MTTP
47 regulation of intestinal cholesterol absorption GO:0030300 9.64 APOA1 LEP
48 lipoprotein catabolic process GO:0042159 9.63 APOB APOE
49 chylomicron assembly GO:0034378 9.55 APOA1 APOB APOE MTTP P4HB
50 cholesterol homeostasis GO:0042632 9.23 ANGPTL3 APOA1 APOB APOE CETP LCAT
51 transport GO:0006810 10.24 APOA1 APOB APOE CETP MTTP SAR1B
52 post-translational protein modification GO:0043687 10 APOA1 APOB APOE P4HB

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

(showing 17, show less)
# Name GO ID Score Top Affiliating Genes
1 phospholipid binding GO:0005543 9.71 APOA1 APOB APOE
2 heparin binding GO:0008201 9.71 ANGPTL3 APOB APOE LPL
3 lipid binding GO:0008289 9.63 APOA1 APOB APOE CETP MTTP TTPA
4 cholesterol binding GO:0015485 9.61 APOA1 APOE CETP
5 phosphatidylcholine binding GO:0031210 9.57 APOA1 CETP
6 low-density lipoprotein particle receptor binding GO:0050750 9.56 APOB APOE
7 apolipoprotein binding GO:0034185 9.55 LPL MTTP
8 enoyl-CoA hydratase activity GO:0004300 9.52 HADHA HADHB
9 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.51 HADHA HADHB
10 lipoprotein particle binding GO:0071813 9.49 APOA1 APOE
11 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.48 APOA1 APOE
12 acetyl-CoA C-acyltransferase activity GO:0003988 9.46 HADHA HADHB
13 phospholipid transporter activity GO:0005548 9.43 APOA1 CETP MTTP
14 long-chain-3-hydroxyacyl-CoA dehydrogenase activity GO:0016509 9.37 HADHA HADHB
15 triglyceride binding GO:0017129 9.32 CETP LPL
16 cholesterol transporter activity GO:0017127 9.26 APOA1 APOB APOE CETP
17 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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