MCID: ABT001
MIFTS: 63

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 57 12 53 25 59 75 37 29 13 55 6 44 15 73
Acanthocytosis 57 76 25 75 29 6 73
Familial Hypobetalipoproteinemia 12 53 25 73
Abetalipoproteinaemia 25 29 6 40
Mtp Deficiency 57 53 25 75
Abl 57 53 25 75
Microsomal Triglyceride Transfer Protein Deficiency Disease 12 53 25
Microsomal Triglyceride Transfer Protein Deficiency 57 53 75
Abetalipoproteinemia Neuropathy 53 25 73
Bassen-Kornzweig Syndrome 57 25 75
Bassen-Kornzweig Disease 53 25 59
Congenital Betalipoprotein Deficiency Syndrome 53 25
Homozygous Familial Hypobetalipoproteinemia 53 59
Betalipoprotein Deficiency Disease 53 25
Apolipoprotein B Deficiency 53 25
Fhbl 53 25
Hypobetalipoproteinemia, Familial, Apolipoprotein B 73
Hypobetalipoproteinemia, Familial 53
Bassen Kornzweig Syndrome 53
Hypobetalipoproteinemias 73
Hypobetalipoproteinemia 25

Characteristics:

Orphanet epidemiological data:

59
abetalipoproteinemia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
abetalipoproteinemia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 200100
Disease Ontology 12 DOID:1386
ICD10 33 E78.6
MeSH 44 D000012
NCIt 50 C84525
SNOMED-CT 68 190787008 83123000
Orphanet 59 ORPHA14
MESH via Orphanet 45 D000012
UMLS via Orphanet 74 C0000744
ICD10 via Orphanet 34 E78.6
MedGen 42 C0000744
KEGG 37 H00160

Summaries for Abetalipoproteinemia

NIH Rare Diseases : 53 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 chylomicron retention disease and hypobetalipoproteinemia, familial, 1, 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 Metabolism of water-soluble vitamins and cofactors. 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 ataxia and muscular hypotonia

OMIM : 57 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 : 75 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 : 25 Abetalipoproteinemia is an inherited disorder that impairs the normal absorption of fats and certain vitamins from the diet. Many of the signs and symptoms of abetalipoproteinemia result from a severe shortage (deficiency) of fat-soluble vitamins (vitamins A, E, and K). The signs and symptoms of this condition primarily affect the gastrointestinal system, eyes, nervous system, and blood.

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 : 76 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 105, show less)
# Related Disease Score Top Affiliating Genes
1 chylomicron retention disease 31.9 APOA1 APOB MTTP
2 hypobetalipoproteinemia, familial, 1 30.9 APOA1 APOB APOE LCAT MTTP
3 myocardial infarction 29.7 APOA1 APOB APOE CETP
4 homozygous familial hypercholesterolemia 29.6 APOB APOE LPL
5 hypolipoproteinemia 29.3 APOA1 APOB APOE LCAT LPL MTTP
6 hypercholesterolemia, familial 26.5 APOA1 APOB APOE CETP LCAT LPL
7 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration 12.4
8 choreoacanthocytosis 12.1
9 wolman disease with hypolipoproteinemia and acanthocytosis 12.0
10 leukemia, chronic myeloid 11.9
11 atypical chronic myeloid leukemia 11.7
12 mcleod syndrome 11.6
13 depression 11.0
14 chronic neutrophilic leukemia 11.0
15 mitochondrial trifunctional protein deficiency 11.0
16 cervical cancer 10.9
17 spinal cord injury 10.9
18 hypobetalipoproteinemia, familial, 2 10.9
19 esophagitis, eosinophilic, 1 10.9
20 bronchiolitis 10.9
21 infertility 10.9
22 leukemia 10.8
23 butyrylcholinesterase deficiency 10.8
24 chronic fatigue syndrome 10.8
25 hartnup disorder 10.7
26 spinal muscular atrophy, type i 10.7
27 xanthoma disseminatum 10.5 APOB APOE
28 hypercholesterolemia, autosomal dominant, type b 10.5 APOB APOE
29 sea-blue histiocyte disease 10.4 APOE LCAT
30 schnyder corneal dystrophy 10.4 APOB APOE
31 hyperlipidemia, combined, 1 10.4 APOB LPL
32 apo a-i deficiency 10.3 APOA1 LCAT
33 hyperlipoproteinemia, type v 10.3 APOE LPL
34 recurrent acute pancreatitis 10.2 APOE LPL
35 dysbaric osteonecrosis 10.2 APOA1 APOB
36 fish-eye disease 10.2 APOA1 LCAT
37 central nervous system disease 10.2
38 nervous system disease 10.2
39 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 10.2 HADHA MTTP
40 cerebral atherosclerosis 10.2 APOA1 APOE
41 amyloidosis aa 10.2 APOA1 LCAT
42 defective apolipoprotein b-100 10.1 APOB APOE LCAT
43 cholesterol ester storage disease 10.1 APOB HADHA
44 lipoprotein glomerulopathy 10.1 APOB APOE LCAT
45 hepatitis 10.0
46 neuropathy 10.0
47 xanthomatosis 10.0 APOB APOE LPL
48 angioid streaks 10.0
49 rickets 10.0
50 fetal macrosomia 10.0 APOA1 APOB LCAT
51 hypothyroidism 9.9
52 leukodystrophy, hypomyelinating, 3 9.9 APOA1 APOB APOE
53 familial lcat deficiency 9.9 APOA1 APOE LCAT
54 carotid artery disease 9.9 APOA1 APOB APOE
55 arteriosclerosis 9.9 APOA1 APOB APOE
56 aortic atherosclerosis 9.8 APOE CETP
57 sitosterolemia 9.8 APOB MTTP
58 cerebrovascular disease 9.8 APOA1 APOB APOE
59 fatty liver disease 9.8
60 alzheimer disease 2 9.8 APOE CETP
61 hepatic lipase deficiency 9.8 APOA1 APOE LPL
62 acrodermatitis enteropathica, zinc-deficiency type 9.7
63 dubin-johnson syndrome 9.7
64 retinitis pigmentosa 9.7
65 leber congenital amaurosis 4 9.7
66 anorexia nervosa 9.7
67 vitamin k deficiency hemorrhagic disease 9.7
68 hypogonadism 9.7
69 acrodermatitis 9.7
70 adenocarcinoma 9.7
71 retinitis 9.7
72 myopathy 9.7
73 pneumonia 9.7
74 peripheral nervous system disease 9.7
75 chorioretinitis 9.7
76 ataxia with vitamin e deficiency 9.7
77 enteropathica 9.7
78 glioblastoma 9.7
79 tremor 9.7
80 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 9.7
81 bardet-biedl syndrome 2 9.7 APOA1 LPL
82 hyperlipidemia, familial combined 9.4 APOA1 APOB APOE LPL
83 hyperlipoproteinemia, type iv 9.4 APOA1 APOB APOE LPL
84 ischemic heart disease 9.4 APOA1 APOB APOE LPL
85 vitamin e, familial isolated deficiency of 9.4 APOA1 APOB TTPA
86 hypertension, essential 9.4 APOA1 APOB LPL
87 coronary stenosis 9.2 APOA1 APOB APOE CETP
88 gallbladder disease 9.2 APOA1 APOB APOE CETP
89 arteries, anomalies of 9.2 APOA1 APOB APOE CETP
90 atherosclerosis susceptibility 9.2 APOA1 APOB APOE CETP
91 heart disease 9.2 APOA1 APOB APOE LPL
92 hypertriglyceridemia, familial 9.2 APOA1 APOB CETP LPL
93 arcus corneae 8.8 APOA1 APOB APOE CETP LCAT
94 hypoalphalipoproteinemia, primary 8.8 APOA1 APOB CETP LCAT LPL
95 hyperlipoproteinemia, type iii 8.7 APOA1 APOB APOE CETP LPL
96 vascular disease 8.7 APOA1 APOB APOE CETP LPL
97 body mass index quantitative trait locus 11 8.3 APOA1 APOB APOE CETP LPL MTTP
98 hyperalphalipoproteinemia 1 8.3 APOA1 APOB APOE CETP LCAT LPL
99 lecithin:cholesterol acyltransferase deficiency 8.3 APOA1 APOB APOE CETP LCAT LPL
100 familial hyperlipidemia 8.3 APOA1 APOB APOE CETP LCAT LPL
101 tangier disease 8.3 APOA1 APOB APOE CETP LCAT LPL
102 coronary artery anomaly 8.3 APOA1 APOB APOE CETP LCAT LPL
103 coronary heart disease 1 7.9 APOA1 APOB APOE CETP LCAT LPL
104 lipid metabolism disorder 7.9 APOA1 APOB APOE CETP LCAT LPL
105 diabetes mellitus, noninsulin-dependent 7.9 APOA1 APOB APOE CETP LCAT LPL

Graphical network of the top 20 diseases related to Abetalipoproteinemia:



Diseases related to Abetalipoproteinemia

Symptoms & Phenotypes for Abetalipoproteinemia

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Abetalipoproteinemia:

59 32 (showing 14, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
2 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
3 malabsorption 59 32 hallmark (90%) Very frequent (99-80%) HP:0002024
4 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
5 abnormality of retinal pigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007703
6 reduced tendon reflexes 59 32 frequent (33%) Frequent (79-30%) HP:0001315
7 retinopathy 32 HP:0000488
8 abnormality of movement 59 Frequent (79-30%)
9 peripheral demyelination 32 HP:0011096
10 fat malabsorption 32 HP:0002630
11 acanthocytosis 32 HP:0001927
12 retinal degeneration 32 HP:0000546
13 abetalipoproteinemia 32 HP:0008181
14 cns demyelination 32 HP:0007305

UMLS symptoms related to Abetalipoproteinemia:


ataxia

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

26 (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 LPL APOA1 APOE

MGI Mouse Phenotypes related to Abetalipoproteinemia:

46 (showing 4, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.86 APOA1 APOB APOE HADHA LCAT LPL
2 homeostasis/metabolism MP:0005376 9.76 APOA1 APOB APOE HADHA LCAT LPL
3 liver/biliary system MP:0005370 9.5 APOA1 APOB APOE HADHA LCAT LPL
4 muscle MP:0005369 9.02 APOB APOE HADHA LPL TTPA

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 1406-66-2 14986
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 11103-57-4, 68-26-8 445354
18 Retinol palmitate
19 retinol Nutraceutical

Interventional clinical trials:

(showing 10, 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
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
10 Prevalence of fAmilial hypobetalipopRoTeinemIa in psychiaTrIc pOpulatioN (PARTITION) Not yet recruiting NCT03549637 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 29 MTTP
2 Abetalipoproteinemia 29
3 Acanthocytosis 29

Anatomical Context for Abetalipoproteinemia

MalaCards organs/tissues related to Abetalipoproteinemia:

41
Eye, Liver, Brain, Spinal Cord, Skeletal Muscle

Publications for Abetalipoproteinemia

Articles related to Abetalipoproteinemia:

(showing 258, 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
Lipoprotein metabolism in an apoB-80 familial hypobetalipoproteinemia heterozygote. ( 26916057 )
2016
4
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
5
Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia. ( 27179706 )
2016
6
Characterization of a mutant form of human apolipoprotein B (Thr26_Tyr27del) associated with familial hypobetalipoproteinemia. ( 26825690 )
2016
7
Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects. ( 27487388 )
2016
8
Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B. ( 26612772 )
2016
9
Homozygous familial hypobetalipoproteinemia: two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature. ( 25618028 )
2015
10
Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal I^-Barrel in Microsomal Triglyceride Transfer Protein Function. ( 26224785 )
2015
11
Fat accumulation in enterocytes: a key to the diagnosis of abetalipoproteinemia or homozygous hypobetalipoproteinemia. ( 26062159 )
2015
12
An Infant with Chronic Diarrhoea and Failure to Thrive: Familial Hypobetalipoproteinemia. ( 26816882 )
2015
13
Macular atrophy in a case of abetalipoproteinemia as only ocular clinical feature. ( 26040232 )
2015
14
SPG11 mutation in a Turkish familial hypobetalipoproteinemia family with hereditary spastic paraplegia. ( 25769290 )
2015
15
Clinical and genetic analysis of a family diagnosed with familial hypobetalipoproteinemia in which the proband was diagnosed with diabetes mellitus. ( 25733326 )
2015
16
A Male Infant with Abetalipoproteinemia: A Case Report from Iran. ( 26396722 )
2015
17
Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia. ( 26086616 )
2015
18
Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia. ( 25763510 )
2015
19
The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations. ( 26073401 )
2015
20
Lipoprotein Metabolism in APOB L343V Familial Hypobetalipoproteinemia. ( 26323024 )
2015
21
Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia. ( 24139731 )
2014
22
Hypobetalipoproteinemia and abetalipoproteinemia. ( 24751931 )
2014
23
Clinical, hematological, and imaging observations in a 25-year-old woman with abetalipoproteinemia. ( 24753676 )
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
Knee pain: an unanticipated finding related to a rare genetic disorder--abetalipoproteinemia. ( 24170593 )
2013
27
Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene. ( 23556456 )
2013
28
Inhibitory effects of in vivo oxidized high-density lipoproteins on platelet aggregation: evidence from patients with abetalipoproteinemia. ( 23507868 )
2013
29
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia. ( 23043934 )
2013
30
Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. ( 24288038 )
2013
31
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia. ( 23475612 )
2013
32
Familial hypobetalipoproteinemia: analysis of three Spanish cases with two new mutations in the APOB gene. ( 24001780 )
2013
33
Ataxia with vitamin E deficiency and abetalipoproteinemia. ( 21827896 )
2012
34
Familial hypobetalipoproteinemia-induced nonalcoholic steatohepatitis. ( 22855658 )
2012
35
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia. ( 22236406 )
2012
36
Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia. ( 22150066 )
2012
37
Chronic adrenal failure and hypergonadotropic hypogonadism in a patient with abetalipoproteinemia. ( 23090820 )
2012
38
Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation. ( 22155345 )
2012
39
Deep brain stimulation for the treatment of tremor and ataxia associated with abetalipoproteinemia. ( 23440258 )
2012
40
Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia. ( 21502686 )
2011
41
A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP). ( 21394827 )
2011
42
Disc swelling in abetalipoproteinemia: a novel feature of Bassen-Kornzweig syndrome. ( 21484752 )
2011
43
Abetalipoproteinemia in a Saudi infant. ( 21333248 )
2011
44
Red cells in abetalipoproteinemia. ( 21534356 )
2011
45
Familial hypobetalipoproteinemia in a hospital survey: genetics, metabolism and non-alcoholic fatty liver disease. ( 21502677 )
2011
46
Rickets and dysmorphic findings in a child with abetalipoproteinemia. ( 21484009 )
2011
47
Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B. ( 20032471 )
2010
48
New mutations in APOB100 involved in familial hypobetalipoproteinemia. ( 21122650 )
2010
49
Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function. ( 20592474 )
2010
50
Abetalipoproteinemia in an infant with severe clinical phenotype and a novel mutation. ( 20402070 )
2010
51
Rickets and dysmorphic findings in a child with abetalipoproteinemia. ( 20953537 )
2010
52
Dissociation between intrahepatic triglyceride content and insulin resistance in familial hypobetalipoproteinemia. ( 20303351 )
2010
53
Recurrent familial hypobetalipoproteinemia-induced nonalcoholic fatty liver disease after living donor liver transplantation. ( 19562718 )
2009
54
Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases. ( 19066957 )
2009
55
Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia. ( 19084451 )
2009
56
Familial hypobetalipoproteinemia: early neurological, hematological, and ocular manifestations in two affected twins responding to vitamin supplementation. ( 19773654 )
2009
57
[Familial hypobetalipoproteinemia: clinical characterization of a new mutation in the APOB gene]. ( 19442995 )
2009
58
Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia. ( 19056372 )
2009
59
PCSK9 dominant negative mutant results in increased LDL catabolic rate and familial hypobetalipoproteinemia. ( 19762784 )
2009
60
Familial hypobetalipoproteinemia due to apolipoprotein B R463W mutation causes intestinal fat accumulation and low postprandial lipemia. ( 19344897 )
2009
61
Morphological diagnosis of abetalipoproteinemia and the importance of a freshly prepared peripheral smear. ( 19552676 )
2009
62
Abetalipoproteinemia complicating the puerperium. ( 18239027 )
2008
63
Familial hypobetalipoproteinemia due to a novel early stop mutation. ( 21291764 )
2008
64
Abetalipoproteinemia: two case reports and literature review. ( 18611256 )
2008
65
Maternal abetalipoproteinemia resulting in multiple fetal anomalies. ( 18784430 )
2008
66
Familial hypobetalipoproteinemia in a Turkish family with hereditary spastic paraplegia. ( 18261467 )
2008
67
Abetalipoproteinemia. ( 18367944 )
2008
68
Familial defective apolipoprotein B and familial hypobetalipoproteinemia in one family: two neutralizing mutations. ( 18458293 )
2008
69
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
70
Abetalipoproteinemia induced by overexpression of ORP150 in mice. ( 17605339 )
2007
71
Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient. ( 17275380 )
2007
72
Novel mutation (c.G1124A) in exon 9 of the APOB gene causes aberrant splicing and familial hypobetalipoproteinemia. ( 17517592 )
2007
73
[Familial hypobetalipoproteinemia secondary to a mutation in the apolipoprotein B gene]. ( 17517208 )
2007
74
Postprandial lipoprotein metabolism in familial hypobetalipoproteinemia. ( 17213276 )
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
Familial hypobetalipoproteinemia: genetics and metabolism. ( 15818469 )
2005
80
Pediatric gallstone disease in familial hypobetalipoproteinemia. ( 15894400 )
2005
81
Liver dysfunction and steatosis in familial hypobetalipoproteinemia. ( 15514099 )
2005
82
Absence of fatty liver in familial hypobetalipoproteinemia linked to chromosome 3p21. ( 15877300 )
2005
83
An MCA/MR syndrome with hypocholesterolemia due to familial hypobetalipoproteinemia: report of a second patient with Nguyen syndrome. ( 16088930 )
2005
84
Hepatic and cardiovascular consequences of familial hypobetalipoproteinemia. ( 16002743 )
2005
85
[Hepatic steatosis associated with heterozygotic familial hypobetalipoproteinemia]. ( 15056412 )
2004
86
Endocrine function in abetalipoproteinemia: a study of a female patient of Greek origin. ( 15960365 )
2004
87
Fatty liver in familial hypobetalipoproteinemia: roles of the APOB defects, intra-abdominal adipose tissue, and insulin sensitivity. ( 14967820 )
2004
88
The c.419-420insA in the MTP gene is associated with abetalipoproteinemia among French-Canadians. ( 14741197 )
2004
89
Oxidative stress in abetalipoproteinemia patients receiving long-term vitamin E and vitamin A supplementation. ( 14749227 )
2004
90
Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia. ( 12630961 )
2003
91
A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia. ( 12551903 )
2003
92
Familial hypobetalipoproteinemia: a review. ( 12639976 )
2003
93
Fatty liver in familial hypobetalipoproteinemia: triglyceride assembly into VLDL particles is affected by the extent of hepatic steatosis. ( 12562873 )
2003
94
[Familial hypobetalipoproteinemia]. ( 12781120 )
2003
95
Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia. ( 12872264 )
2003
96
Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia. ( 12124991 )
2002
97
Abetalipoproteinemia-like lipid profile and acanthocytosis in a young woman with anorexia nervosa. ( 12449451 )
2002
98
Replication of linkage of familial hypobetalipoproteinemia to chromosome 3p in six kindreds. ( 11893777 )
2002
99
Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB splice site mutation. ( 11940084 )
2002
100
Rickets as an unusual initial presentation of abetalipoproteinemia and hypobetalipoproteinemia. ( 11308051 )
2001
101
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
102
Clinical quiz. Abetalipoproteinemia. ( 11345181 )
2001
103
Apolipoprotein B48 glycosylation in abetalipoproteinemia and Anderson's disease. ( 11677202 )
2001
104
Abetalipoproteinemia: a case report. ( 11592517 )
2001
105
Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene. ( 11590210 )
2001
106
Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia. ( 10679949 )
2000
107
The role of the microsomal triglygeride transfer protein in abetalipoproteinemia. ( 10940349 )
2000
108
Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia. ( 10946006 )
2000
109
Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22. ( 10762553 )
2000
110
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
111
[Microsomal triglyceride transfer protein and abetalipoproteinemia]. ( 10891663 )
2000
112
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
113
Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene. ( 10446076 )
1999
114
Decreased production rates of VLDL triglycerides and ApoB-100 in subjects heterozygous for familial hypobetalipoproteinemia. ( 10559016 )
1999
115
Diabetes mellitus in a new kindred with familial hypobetalipoproteinemia and an apolipoprotein B truncation (apoB-55). ( 9543100 )
1998
116
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
117
Helicoid peripapillary chorioretinal degeneration in abetalipoproteinemia. ( 9488285 )
1998
118
Genetic heterogeneity in familial hypobetalipoproteinemia: linkage and non-linkage to the apoB gene in Caucasian families. ( 9508071 )
1998
119
Knockout of the abetalipoproteinemia gene in mice: reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes. ( 9671739 )
1998
120
Donor splice mutation (665 + 1 G_T) in familial hypobetalipoproteinemia with no detectable apoB truncation. ( 9843041 )
1998
121
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
122
Metabolism of apolipoprotein B-100 in a kindred with familial hypobetalipoproteinemia without a truncated form of apoB. ( 9101440 )
1997
123
Heterozygous familial hypobetalipoproteinemia associated with fatty liver. ( 9260828 )
1997
124
Fatty liver in a case with heterozygous familial hypobetalipoproteinemia. ( 9040220 )
1997
125
Pathological case of the month. Abetalipoproteinemia (Bassen-Kornzweig syndrome). ( 9412607 )
1997
126
Homozygous familial hypobetalipoproteinemia. Increased LDL catabolism in hypobetalipoproteinemia due to a truncated apolipoprotein B species, apo B-87Padova. ( 8792774 )
1996
127
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
128
Translocation of apolipoprotein B across the endoplasmic reticulum is blocked in abetalipoproteinemia. ( 8808765 )
1996
129
Abetalipoproteinemia in an Indian family. ( 10830000 )
1996
130
A new apolipoprotein B truncation (apo B-43.7) in familial hypobetalipoproteinemia: genetic and metabolic studies. ( 8843188 )
1996
131
Familial hypobetalipoproteinemia is not associated with low levels of lipoprotein(a). ( 7489238 )
1995
132
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
133
Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. ( 8533758 )
1995
134
Lipoproteins containing apolipoprotein B isolated from patients with abetalipoproteinemia and homozygous hypobetalipoproteinemia: identification and characterization. ( 8770313 )
1995
135
Familial hypobetalipoproteinemia associated with hypothyroidism. ( 8580561 )
1995
136
The abetalipoproteinemia gene is a member of the vitellogenin family and encodes an alpha-helical domain. ( 7664034 )
1994
137
Discrimination between RRR- and all-racemic-alpha-tocopherols labeled with deuterium by patients with abetalipoproteinemia. ( 7980705 )
1994
138
Angioid streaks associated with abetalipoproteinemia. ( 7749670 )
1994
139
The molecular basis of abetalipoproteinemia. ( 8044420 )
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
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
143
Characterization of serum lipoproteins from Suncus: a candidate animal model for abetalipoproteinemia. ( 8370676 )
1993
144
Familial hypobetalipoproteinemia. ( 8496659 )
1993
145
Is microsomal triglyceride transfer protein the missing link in abetalipoproteinemia? ( 8340078 )
1993
146
Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein. ( 8111381 )
1993
147
Abetalipoproteinemia. New insights into lipoprotein assembly and vitamin E metabolism from a rare genetic disease. ( 8340987 )
1993
148
Familial hypobetalipoproteinemia--differences in lipoprotein structure and composition. ( 8311419 )
1993
149
Histochemical and ultrastructural pathology of skeletal muscle in a patient with abetalipoproteinemia. ( 8310805 )
1993
150
Genetic exclusion of apo-B gene in recessive abetalipoproteinemia. ( 8422264 )
1993
151
Genetic analysis of a Japanese family with normotriglyceridemic abetalipoproteinemia indicates a lack of linkage to the apolipoprotein B gene. ( 1731805 )
1992
152
A novel truncated apolipoprotein B (apo B55) in a patient with familial hypobetalipoproteinemia and atypical retinitis pigmentosa. ( 1424233 )
1992
153
Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. ( 1439810 )
1992
154
ApoB-75, a truncation of apolipoprotein B associated with familial hypobetalipoproteinemia: genetic and kinetic studies. ( 1431583 )
1992
155
Receptor-dependent and -independent catabolism of low-density lipoprotein in a kindred with familial hypobetalipoproteinemia. ( 1640842 )
1992
156
Abnormal platelet functions in a patient with abetalipoproteinemia. ( 1904656 )
1991
157
ApoB gene nonsense and splicing mutations in a compound heterozygote for familial hypobetalipoproteinemia. ( 1770316 )
1991
158
Intestinal and hepatic apolipoprotein B gene expression in abetalipoproteinemia. ( 2065927 )
1991
159
Molecular and metabolic basis for the metabolic disorder normotriglyceridemic abetalipoproteinemia. ( 1939657 )
1991
160
Apolipoprotein C-II and C-III metabolism in a kindred of familial hypobetalipoproteinemia. ( 1984570 )
1991
161
A truncated species of apolipoprotein B (B67) in a kindred with familial hypobetalipoproteinemia. ( 2022744 )
1991
162
Exclusion of linkage between the human apolipoprotein B gene and abetalipoproteinemia. ( 2339706 )
1990
163
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
164
Serial somatosensory evoked potentials in a patient with familial hypobetalipoproteinemia, and vitamin E deficiency. ( 1966249 )
1990
165
Description of two different patients with abetalipoproteinemia: synthesis of a normal-sized apolipoprotein B-48 in intestinal organ culture. ( 2179443 )
1990
166
Abetalipoproteinemia with an ApoB-100-lipoprotein(a) glycoprotein complex in plasma. Indication for an assembly defect. ( 2295628 )
1990
167
Molecular species of cholesteryl esters formed in abetalipoproteinemia: effect of apoprotein B-containing lipoproteins. ( 2380639 )
1990
168
Hepatic peroxisomal abnormalities in abetalipoproteinemia. ( 2753336 )
1989
169
Increased urinary mevalonic acid excretion in patients with abetalipoproteinemia and homozygous hypobetalipoproteinemia. ( 2920062 )
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
Molecular species of phosphatidylcholine in abetalipoproteinemia: effect of lecithin:cholesterol acyltransferase and lysolecithin acyltransferase. ( 2621418 )
1989
173
Neutral lipid transfer activities in the plasma of patients with abetalipoproteinemia. ( 3377877 )
1988
174
Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia. ( 2903181 )
1988
175
Abetalipoproteinemia or Bassen-Kornzweig syndrome. Clinical, biochemical and electrophysiological features of two cases. ( 3206997 )
1988
176
Substrate specificity of plasma lecithin: cholesterol acyltransferase in abetalipoproteinemia. ( 3421144 )
1988
177
In vivo evidence for cholesterol ester and triglyceride exchange between high density lipoprotein and infused triglyceride rich particles in abetalipoproteinemia. ( 3223418 )
1988
178
Peripheral relaxin levels during pregnancy in a woman with homozygous familial hypobetalipoproteinemia. ( 3181494 )
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
Confusing reporting in abetalipoproteinemia. ( 3631927 )
1987
181
[Abetalipoproteinemia. Apropos of 2 cases]. ( 3692094 )
1987
182
Characterization of an abnormal species of apolipoprotein B, apolipoprotein B-37, associated with familial hypobetalipoproteinemia. ( 3584472 )
1987
183
Angioid streaks associated with abetalipoproteinemia. Case report. ( 3632434 )
1987
184
Absence of intestinal synthesis of apolipoprotein B-48 in two cases of abetalipoproteinemia. ( 3653634 )
1987
185
Abetalipoproteinemia associated with hepatic and atypical neurological disorders. ( 3694376 )
1987
186
The influence of plasma lipoproteins from patients with abetalipoproteinemia on cellular cholesterol esterification. ( 3689473 )
1987
187
Lipid composition and lipolytic activities in milk from a patient with homozygous familial hypobetalipoproteinemia. ( 3565300 )
1987
188
Vitamin E deficiency in neuropathy of abetalipoproteinemia. ( 3012411 )
1986
189
Electrophysiologic features of abetalipoproteinemia: functional consequences of vitamin E deficiency. ( 3010179 )
1986
190
Epitopes of apolipoprotein B-100 and B-48 in both liver and intestine. Expression and evidence for local synthesis in recessive abetalipoproteinemia. ( 2429992 )
1986
191
Analysis of the apolipoprotein B gene and messenger ribonucleic acid in abetalipoproteinemia. ( 3782476 )
1986
192
Normotriglyceridemic abetalipoproteinemia in infancy: an isolated apolipoprotein B-100 deficiency. ( 3975124 )
1985
193
Peripheral neuropathy in abetalipoproteinemia. ( 2991816 )
1985
194
Abetalipoproteinemia. A case report. ( 3832509 )
1985
195
Primary aberrant regeneration of the oculomotor nerve. Occurrence in a patient with abetalipoproteinemia. ( 4026621 )
1985
196
Somatosensory evoked potentials in abetalipoproteinemia. ( 2578350 )
1985
197
Platelet function in a case with abetalipoproteinemia. ( 4084361 )
1985
198
Arrest of neuropathy and myopathy in abetalipoproteinemia with high-dose vitamin E therapy. ( 2981135 )
1985
199
Ocular abnormalities in abetalipoproteinemia. A clinicopathologic correlation. ( 6493710 )
1984
200
Morphologic features of the liver in abetalipoproteinemia. ( 6500514 )
1984
201
Vitamin A and vitamin E replacement in abetalipoproteinemia. ( 6691669 )
1984
202
Electrophysiological studies in five cases of abetalipoproteinemia. ( 6704795 )
1984
203
Alterations in erythrocyte membrane lipids in abetalipoproteinemia: phospholipid and fatty acyl composition. ( 6497872 )
1984
204
Abetalipoproteinemia and metastatic spinal cord glioblastoma. ( 6326713 )
1984
205
Abetalipoproteinemia. Report of an unusual patient. ( 6472810 )
1984
206
Regulation of cholesterol synthesis by plasma lipoproteins from patients with abetalipoproteinemia. ( 6318779 )
1983
207
Cholesterol turnover and metabolism in two patients with abetalipoproteinemia. ( 6668452 )
1983
208
A case report of abetalipoproteinemia (Bassen-Kornzweig syndrome)--the first case in Japan. ( 6620711 )
1983
209
[Oxalate lithiasis associated bith abetalipoproteinemia. Report of a case]. ( 6671265 )
1983
210
Lipoprotein lipase and hepatic lipase activity after heparin administration in abetalipoproteinemia and hypobetalipoproteinemia. ( 6888269 )
1983
211
Regulation of low density lipoprotein receptors by plasma lipoproteins from patients with abetalipoproteinemia. ( 6304711 )
1983
212
Hormone changes during the menstrual cycle in abetalipoproteinemia: reduced luteal phase progesterone in a patient with homozygous hypobetalipoproteinemia. ( 6959145 )
1982
213
Role of apolipoprotein E-containing lipoproteins in abetalipoproteinemia. ( 6294137 )
1982
214
Abnormal high density lipoproteins of abetalipoproteinemia: relevance to normal HDL metabolism. ( 7161557 )
1982
215
Effect of large oral doses of vitamin E on the neurological sequelae of patients with abetalipoproteinemia. ( 6959555 )
1982
216
Corticosteroid production in abetalipoproteinemia: evidence for an impaired response ACTH. ( 6283000 )
1982
217
Abetalipoproteinemia-a case report. ( 6973052 )
1981
218
Importance of cholesterol-phospholipid interaction in determining dynamics of normal and abetalipoproteinemia red blood cell membrane. ( 6168375 )
1981
219
Normotriglyceridemic abetalipoproteinemia. absence of the B-100 apolipoprotein. ( 7229035 )
1981
220
Abetalipoproteinemia. Report of two cases and review of therapy. ( 7425890 )
1980
221
Lipid metabolism in abetalipoproteinemia: a study of cholesterol absorption and sterol balance in two patients. ( 7350037 )
1980
222
Abetalipoproteinemia presenting as severe vitamin K deficiency. ( 7355018 )
1980
223
Impaired cortisol secretion in abetalipoproteinemia. ( 6246140 )
1980
224
Is essential fatty acid deficiency part of the syndrome of abetalipoproteinemia? ( 7422151 )
1980
225
The neuropathy of abetalipoproteinemia. ( 6153056 )
1980
226
Metabolic studies in an unusual case of asymptomatic familial hypobetalipoproteinemia with hypolphalipoproteinemia and fasting chylomicronemia. ( 221546 )
1979
227
A clinical and neurophysiological investigation of a Danish kindred with heterozygous familial hypobetalipoproteinemia. ( 419983 )
1979
228
Immunofluorescence studies of apolipoprotein B in intestinal mucosa. Absence in abetalipoproteinemia. ( 365664 )
1979
229
Sterol balance in abetalipoproteinemia: studies in a patient with homozygous familial hypobetalipoproteinemia. ( 491973 )
1979
230
Abetalipoproteinemia and hypobetalipoproteinemia: what is the primary defect? ( 735924 )
1978
231
Familial hypobetalipoproteinemia. Absence of atherosclerosis in a postmortem study. ( 207903 )
1978
232
Endoscopic assessment in abetalipoproteinemia (Bassen-Kornzweig-syndrome). ( 631097 )
1978
233
Abetalipoproteinemia treated with parenteral and oral vitamins A and E, and with medium chain triglycerides. ( 716878 )
1978
234
Abetalipoproteinemia (Bassen-Kornzweig syndrome). Muscle involvement. ( 855647 )
1977
235
Turnover of apolipoprotein-B in two subjects with familial hypobetalipoproteinemia. ( 189158 )
1977
236
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
237
Decreased fluidity of red cell membrane lipids in abetalipoproteinemia. ( 874076 )
1977
238
Atypical retinitis pigmentosa in familial hypobetalipoproteinemia. ( 180811 )
1976
239
Abetalipoproteinemia and the eye. ( 782598 )
1976
240
The genetic relationship of abetalipoproteinemia and hypobetalipoproteinemia: a report of the occurence of both diseases within the same family. ( 164511 )
1975
241
A study of the abnormal lipoproteins in abetalipoproteinemia. ( 11344558 )
1974
242
Liver ultrastructure in abetalipoproteinemia: Evolution of micronodular cirrhosis. ( 4135110 )
1974
243
Familial hypobetalipoproteinemia: report of a case with psychomotor retardation. ( 4365305 )
1974
244
Abetalipoproteinemia. ( 4719023 )
1973
245
Studies on the sedimentation rate and membrane permeability of acanthocytes in abetalipoproteinemia. ( 4785306 )
1973
246
Abetalipoproteinemia. ( 4345524 )
1972
247
Abetalipoproteinemia in acrodermatitis enteropathica. ( 4995946 )
1971
248
The relationship between serum lipoproteins and red cell membranes in abetalipoproteinemia: deficiency of lecithin:cholesterol acyltransferase. ( 5092855 )
1971
249
Abetalipoproteinemia: metabolic, endocrine, and electron-microscopic investigations. ( 5561886 )
1971
250
Abetalipoproteinemia: rarity and relevance. ( 5549807 )
1971
251
On the protein defect in abetalipoproteinemia. ( 5549803 )
1971
252
Retinitis pigmentosa in abetalipoproteinemia: Effects of vitamin A. ( 5124019 )
1971
253
Fat transport in abetalipoproteinemia. The effects of repeated infusions of beta-lipoprotein-rich plasma. ( 4976946 )
1969
254
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
255
Studies on the absorptive defect for triglyceride in abetalipoproteinemia. ( 6018748 )
1967
256
Abnormalities of high density lipoproteins in abetalipoproteinemia. ( 6027078 )
1967
257
Peroxidative hemolysis of red blood cells from patients with abetalipoproteinemia (acanthocytosis). ( 6023771 )
1967
258
The lipoproteins and lipid transport in abetalipoproteinemia. ( 4957009 )
1966

Variations for Abetalipoproteinemia

UniProtKB/Swiss-Prot genetic disease variations for Abetalipoproteinemia:

75 (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 144, 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 NM_000253.3(MTTP): c.1783C> T (p.Arg595Ter) single nucleotide variant Pathogenic rs199422219 GRCh38 Chromosome 4, 99611156: 99611156
4 MTTP MTP, IVS, G-A, +5 single nucleotide variant Pathogenic
5 MTTP MTP, IVS9AS, G-A, -1 single nucleotide variant Pathogenic
6 MTTP NM_000253.3(MTTP): c.1619G> A (p.Arg540His) single nucleotide variant Pathogenic rs199422220 GRCh37 Chromosome 4, 100529984: 100529984
7 MTTP NM_000253.3(MTTP): c.1619G> A (p.Arg540His) single nucleotide variant Pathogenic rs199422220 GRCh38 Chromosome 4, 99608827: 99608827
8 MTTP MTP, EXON 10 DEL deletion Pathogenic
9 MTTP NM_000253.3(MTTP): c.2338A> T (p.Asn780Tyr) single nucleotide variant Pathogenic rs199422221 GRCh37 Chromosome 4, 100540251: 100540251
10 MTTP NM_000253.3(MTTP): c.2338A> T (p.Asn780Tyr) single nucleotide variant Pathogenic rs199422221 GRCh38 Chromosome 4, 99619094: 99619094
11 MTTP NM_000253.3(MTTP): c.1769G> T (p.Ser590Ile) single nucleotide variant Pathogenic rs199422222 GRCh37 Chromosome 4, 100530134: 100530134
12 MTTP NM_000253.3(MTTP): c.1769G> T (p.Ser590Ile) single nucleotide variant Pathogenic rs199422222 GRCh38 Chromosome 4, 99608977: 99608977
13 MTTP NM_000253.3(MTTP): c.2593G> T (p.Gly865Ter) single nucleotide variant Pathogenic rs146064714 GRCh37 Chromosome 4, 100543913: 100543913
14 MTTP NM_000253.3(MTTP): c.2593G> T (p.Gly865Ter) single nucleotide variant Pathogenic rs146064714 GRCh38 Chromosome 4, 99622756: 99622756
15 MTTP NM_000253.3(MTTP): c.285G> C (p.Gln95His) single nucleotide variant Benign/Likely benign rs61733139 GRCh37 Chromosome 4, 100504566: 100504566
16 MTTP NM_000253.3(MTTP): c.285G> C (p.Gln95His) single nucleotide variant Benign/Likely benign rs61733139 GRCh38 Chromosome 4, 99583409: 99583409
17 MTTP NM_000253.3(MTTP): c.1151A> C (p.Asp384Ala) single nucleotide variant Benign/Likely benign rs17029215 GRCh37 Chromosome 4, 100521805: 100521805
18 MTTP NM_000253.3(MTTP): c.1151A> C (p.Asp384Ala) single nucleotide variant Benign/Likely benign rs17029215 GRCh38 Chromosome 4, 99600648: 99600648
19 MTTP NM_000253.3(MTTP): c.2433G> C (p.Leu811Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs144590904 GRCh37 Chromosome 4, 100542308: 100542308
20 MTTP NM_000253.3(MTTP): c.2433G> C (p.Leu811Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs144590904 GRCh38 Chromosome 4, 99621151: 99621151
21 MTTP NM_000253.3(MTTP): c.-84T> C single nucleotide variant Uncertain significance rs761717058 GRCh37 Chromosome 4, 100495983: 100495983
22 MTTP NM_000253.3(MTTP): c.-252G> C single nucleotide variant Benign rs11944749 GRCh38 Chromosome 4, 99564087: 99564087
23 MTTP NM_000253.3(MTTP): c.-252G> C single nucleotide variant Benign rs11944749 GRCh37 Chromosome 4, 100485244: 100485244
24 MTTP NM_000253.3(MTTP): c.-149C> A single nucleotide variant Uncertain significance rs886058955 GRCh38 Chromosome 4, 99564190: 99564190
25 MTTP NM_000253.3(MTTP): c.-149C> A single nucleotide variant Uncertain significance rs886058955 GRCh37 Chromosome 4, 100485347: 100485347
26 MTTP NM_000253.3(MTTP): c.-84T> C single nucleotide variant Uncertain significance rs761717058 GRCh38 Chromosome 4, 99574826: 99574826
27 MTTP NM_000253.3(MTTP): c.-82C> T single nucleotide variant Uncertain significance rs767201629 GRCh38 Chromosome 4, 99574828: 99574828
28 MTTP NM_000253.3(MTTP): c.-82C> T single nucleotide variant Uncertain significance rs767201629 GRCh37 Chromosome 4, 100495985: 100495985
29 MTTP NM_000253.3(MTTP): c.39C> G (p.Ser13=) single nucleotide variant Likely benign rs7667001 GRCh38 Chromosome 4, 99574948: 99574948
30 MTTP NM_000253.3(MTTP): c.39C> G (p.Ser13=) single nucleotide variant Likely benign rs7667001 GRCh37 Chromosome 4, 100496105: 100496105
31 MTTP NM_000253.3(MTTP): c.136C> G (p.Arg46Gly) single nucleotide variant Likely benign rs141736123 GRCh38 Chromosome 4, 99581979: 99581979
32 MTTP NM_000253.3(MTTP): c.136C> G (p.Arg46Gly) single nucleotide variant Likely benign rs141736123 GRCh37 Chromosome 4, 100503136: 100503136
33 MTTP NM_000253.3(MTTP): c.294G> C (p.Glu98Asp) single nucleotide variant Likely benign rs2306986 GRCh38 Chromosome 4, 99583418: 99583418
34 MTTP NM_000253.3(MTTP): c.294G> C (p.Glu98Asp) single nucleotide variant Likely benign rs2306986 GRCh37 Chromosome 4, 100504575: 100504575
35 MTTP NM_000253.3(MTTP): c.490A> G (p.Thr164Ala) single nucleotide variant Uncertain significance rs563558722 GRCh38 Chromosome 4, 99589739: 99589739
36 MTTP NM_000253.3(MTTP): c.490A> G (p.Thr164Ala) single nucleotide variant Uncertain significance rs563558722 GRCh37 Chromosome 4, 100510896: 100510896
37 MTTP NM_000253.3(MTTP): c.502G> A (p.Val168Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs61750974 GRCh38 Chromosome 4, 99591235: 99591235
38 MTTP NM_000253.3(MTTP): c.502G> A (p.Val168Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs61750974 GRCh37 Chromosome 4, 100512392: 100512392
39 MTTP NM_000253.3(MTTP): c.695C> T (p.Ala232Val) single nucleotide variant Uncertain significance rs748108500 GRCh38 Chromosome 4, 99591727: 99591727
40 MTTP NM_000253.3(MTTP): c.695C> T (p.Ala232Val) single nucleotide variant Uncertain significance rs748108500 GRCh37 Chromosome 4, 100512884: 100512884
41 MTTP NM_000253.3(MTTP): c.799T> C (p.Leu267=) single nucleotide variant Uncertain significance rs7672497 GRCh38 Chromosome 4, 99594773: 99594773
42 MTTP NM_000253.3(MTTP): c.799T> C (p.Leu267=) single nucleotide variant Uncertain significance rs7672497 GRCh37 Chromosome 4, 100515930: 100515930
43 MTTP NM_000253.3(MTTP): c.1888A> G (p.Thr630Ala) single nucleotide variant Uncertain significance rs368679444 GRCh38 Chromosome 4, 99611352: 99611352
44 MTTP NM_000253.3(MTTP): c.1888A> G (p.Thr630Ala) single nucleotide variant Uncertain significance rs368679444 GRCh37 Chromosome 4, 100532509: 100532509
45 MTTP NM_000253.3(MTTP): c.1981G> A (p.Gly661Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs113337987 GRCh37 Chromosome 4, 100532602: 100532602
46 MTTP NM_000253.3(MTTP): c.1981G> A (p.Gly661Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs113337987 GRCh38 Chromosome 4, 99611445: 99611445
47 MTTP NM_000253.3(MTTP): c.*279C> G single nucleotide variant Uncertain significance rs115807483 GRCh38 Chromosome 4, 99623127: 99623127
48 MTTP NM_000253.3(MTTP): c.*279C> G single nucleotide variant Uncertain significance rs115807483 GRCh37 Chromosome 4, 100544284: 100544284
49 MTTP NM_000253.3(MTTP): c.*382T> C single nucleotide variant Uncertain significance rs556994625 GRCh38 Chromosome 4, 99623230: 99623230
50 MTTP NM_000253.3(MTTP): c.*382T> C single nucleotide variant Uncertain significance rs556994625 GRCh37 Chromosome 4, 100544387: 100544387
51 MTTP NM_000253.3(MTTP): c.*1118C> T single nucleotide variant Uncertain significance rs144013236 GRCh38 Chromosome 4, 99623966: 99623966
52 MTTP NM_000253.3(MTTP): c.*1118C> T single nucleotide variant Uncertain significance rs144013236 GRCh37 Chromosome 4, 100545123: 100545123
53 MTTP NM_000253.3(MTTP): c.-214G> A single nucleotide variant Uncertain significance rs569667113 GRCh37 Chromosome 4, 100485282: 100485282
54 MTTP NM_000253.3(MTTP): c.-214G> A single nucleotide variant Uncertain significance rs569667113 GRCh38 Chromosome 4, 99564125: 99564125
55 MTTP NM_000253.3(MTTP): c.-205G> A single nucleotide variant Uncertain significance rs886058953 GRCh38 Chromosome 4, 99564134: 99564134
56 MTTP NM_000253.3(MTTP): c.-205G> A single nucleotide variant Uncertain significance rs886058953 GRCh37 Chromosome 4, 100485291: 100485291
57 MTTP NM_000253.3(MTTP): c.-6G> A single nucleotide variant Uncertain significance rs41275707 GRCh38 Chromosome 4, 99574904: 99574904
58 MTTP NM_000253.3(MTTP): c.-6G> A single nucleotide variant Uncertain significance rs41275707 GRCh37 Chromosome 4, 100496061: 100496061
59 MTTP NM_000253.3(MTTP): c.933C> A (p.Thr311=) single nucleotide variant Likely benign rs17029213 GRCh38 Chromosome 4, 99597090: 99597090
60 MTTP NM_000253.3(MTTP): c.933C> A (p.Thr311=) single nucleotide variant Likely benign rs17029213 GRCh37 Chromosome 4, 100518247: 100518247
61 MTTP NM_000253.3(MTTP): c.1016C> T (p.Ala339Val) single nucleotide variant Uncertain significance rs137956833 GRCh38 Chromosome 4, 99597173: 99597173
62 MTTP NM_000253.3(MTTP): c.1016C> T (p.Ala339Val) single nucleotide variant Uncertain significance rs137956833 GRCh37 Chromosome 4, 100518330: 100518330
63 MTTP NM_000253.3(MTTP): c.1477G> T (p.Ala493Ser) single nucleotide variant Uncertain significance rs758939873 GRCh37 Chromosome 4, 100528037: 100528037
64 MTTP NM_000253.3(MTTP): c.1477G> T (p.Ala493Ser) single nucleotide variant Uncertain significance rs758939873 GRCh38 Chromosome 4, 99606880: 99606880
65 MTTP NM_000253.3(MTTP): c.1769+9C> T single nucleotide variant Likely benign rs34734558 GRCh38 Chromosome 4, 99608986: 99608986
66 MTTP NM_000253.3(MTTP): c.1769+9C> T single nucleotide variant Likely benign rs34734558 GRCh37 Chromosome 4, 100530143: 100530143
67 MTTP NM_000253.3(MTTP): c.1769+14C> T single nucleotide variant Benign/Likely benign rs41275713 GRCh38 Chromosome 4, 99608991: 99608991
68 MTTP NM_000253.3(MTTP): c.1769+14C> T single nucleotide variant Benign/Likely benign rs41275713 GRCh37 Chromosome 4, 100530148: 100530148
69 MTTP NM_000253.3(MTTP): c.2657C> T (p.Pro886Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs144600401 GRCh38 Chromosome 4, 99622820: 99622820
70 MTTP NM_000253.3(MTTP): c.2657C> T (p.Pro886Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs144600401 GRCh37 Chromosome 4, 100543977: 100543977
71 MTTP NM_000253.3(MTTP): c.*55G> C single nucleotide variant Uncertain significance rs192882987 GRCh38 Chromosome 4, 99622903: 99622903
72 MTTP NM_000253.3(MTTP): c.*55G> C single nucleotide variant Uncertain significance rs192882987 GRCh37 Chromosome 4, 100544060: 100544060
73 MTTP NM_000253.3(MTTP): c.*183C> T single nucleotide variant Likely benign rs74542928 GRCh38 Chromosome 4, 99623031: 99623031
74 MTTP NM_000253.3(MTTP): c.*183C> T single nucleotide variant Likely benign rs74542928 GRCh37 Chromosome 4, 100544188: 100544188
75 MTTP NM_000253.3(MTTP): c.*1046C> G single nucleotide variant Benign rs1061271 GRCh38 Chromosome 4, 99623894: 99623894
76 MTTP NM_000253.3(MTTP): c.*1046C> G single nucleotide variant Benign rs1061271 GRCh37 Chromosome 4, 100545051: 100545051
77 MTTP NM_000253.3(MTTP): c.-153C> G single nucleotide variant Uncertain significance rs886058954 GRCh38 Chromosome 4, 99564186: 99564186
78 MTTP NM_000253.3(MTTP): c.-153C> G single nucleotide variant Uncertain significance rs886058954 GRCh37 Chromosome 4, 100485343: 100485343
79 MTTP NM_000253.3(MTTP): c.-28T> C single nucleotide variant Uncertain significance rs886058956 GRCh38 Chromosome 4, 99574882: 99574882
80 MTTP NM_000253.3(MTTP): c.-28T> C single nucleotide variant Uncertain significance rs886058956 GRCh37 Chromosome 4, 100496039: 100496039
81 MTTP NM_000253.3(MTTP): c.2041G> A (p.Glu681Lys) single nucleotide variant Uncertain significance rs886058958 GRCh37 Chromosome 4, 100534121: 100534121
82 MTTP NM_000253.3(MTTP): c.2041G> A (p.Glu681Lys) single nucleotide variant Uncertain significance rs886058958 GRCh38 Chromosome 4, 99612964: 99612964
83 MTTP NM_000253.3(MTTP): c.2167G> A (p.Asp723Asn) single nucleotide variant Uncertain significance rs371023325 GRCh38 Chromosome 4, 99613090: 99613090
84 MTTP NM_000253.3(MTTP): c.2167G> A (p.Asp723Asn) single nucleotide variant Uncertain significance rs371023325 GRCh37 Chromosome 4, 100534247: 100534247
85 MTTP NM_000253.3(MTTP): c.2636A> G (p.Lys879Arg) single nucleotide variant Likely benign rs114049933 GRCh38 Chromosome 4, 99622799: 99622799
86 MTTP NM_000253.3(MTTP): c.2636A> G (p.Lys879Arg) single nucleotide variant Likely benign rs114049933 GRCh37 Chromosome 4, 100543956: 100543956
87 MTTP NM_000253.3(MTTP): c.*41A> G single nucleotide variant Uncertain significance rs886058959 GRCh38 Chromosome 4, 99622889: 99622889
88 MTTP NM_000253.3(MTTP): c.*41A> G single nucleotide variant Uncertain significance rs886058959 GRCh37 Chromosome 4, 100544046: 100544046
89 MTTP NM_000253.3(MTTP): c.*82G> A single nucleotide variant Uncertain significance rs886058960 GRCh38 Chromosome 4, 99622930: 99622930
90 MTTP NM_000253.3(MTTP): c.*82G> A single nucleotide variant Uncertain significance rs886058960 GRCh37 Chromosome 4, 100544087: 100544087
91 MTTP NM_000253.3(MTTP): c.*98T> A single nucleotide variant Uncertain significance rs886058961 GRCh38 Chromosome 4, 99622946: 99622946
92 MTTP NM_000253.3(MTTP): c.*98T> A single nucleotide variant Uncertain significance rs886058961 GRCh37 Chromosome 4, 100544103: 100544103
93 MTTP NM_000253.3(MTTP): c.*454dupA duplication Uncertain significance rs886058962 GRCh38 Chromosome 4, 99623302: 99623302
94 MTTP NM_000253.3(MTTP): c.*454dupA duplication Uncertain significance rs886058962 GRCh37 Chromosome 4, 100544459: 100544459
95 MTTP NM_000253.3(MTTP): c.*490_*494delTTGGA deletion Uncertain significance rs886058963 GRCh38 Chromosome 4, 99623338: 99623342
96 MTTP NM_000253.3(MTTP): c.*490_*494delTTGGA deletion Uncertain significance rs886058963 GRCh37 Chromosome 4, 100544495: 100544499
97 MTTP NM_000253.3(MTTP): c.*506A> G single nucleotide variant Likely benign rs6832119 GRCh38 Chromosome 4, 99623354: 99623354
98 MTTP NM_000253.3(MTTP): c.*506A> G single nucleotide variant Likely benign rs6832119 GRCh37 Chromosome 4, 100544511: 100544511
99 MTTP NM_000253.3(MTTP): c.*694A> C single nucleotide variant Uncertain significance rs187658213 GRCh38 Chromosome 4, 99623542: 99623542
100 MTTP NM_000253.3(MTTP): c.*694A> C single nucleotide variant Uncertain significance rs187658213 GRCh37 Chromosome 4, 100544699: 100544699
101 MTTP NM_000253.3(MTTP): c.*989T> C single nucleotide variant Uncertain significance rs183510498 GRCh38 Chromosome 4, 99623837: 99623837
102 MTTP NM_000253.3(MTTP): c.*989T> C single nucleotide variant Uncertain significance rs183510498 GRCh37 Chromosome 4, 100544994: 100544994
103 MTTP NM_000253.3(MTTP): c.-241G> A single nucleotide variant Benign rs11944752 GRCh38 Chromosome 4, 99564098: 99564098
104 MTTP NM_000253.3(MTTP): c.-241G> A single nucleotide variant Benign rs11944752 GRCh37 Chromosome 4, 100485255: 100485255
105 MTTP NM_000253.3(MTTP): c.-54C> T single nucleotide variant Uncertain significance rs181769817 GRCh38 Chromosome 4, 99574856: 99574856
106 MTTP NM_000253.3(MTTP): c.-54C> T single nucleotide variant Uncertain significance rs181769817 GRCh37 Chromosome 4, 100496013: 100496013
107 MTTP NM_000253.3(MTTP): c.394-7C> T single nucleotide variant Uncertain significance rs368989581 GRCh38 Chromosome 4, 99589636: 99589636
108 MTTP NM_000253.3(MTTP): c.394-7C> T single nucleotide variant Uncertain significance rs368989581 GRCh37 Chromosome 4, 100510793: 100510793
109 MTTP NM_000253.3(MTTP): c.497A> G (p.Asn166Ser) single nucleotide variant Likely benign rs3792683 GRCh38 Chromosome 4, 99589746: 99589746
110 MTTP NM_000253.3(MTTP): c.497A> G (p.Asn166Ser) single nucleotide variant Likely benign rs3792683 GRCh37 Chromosome 4, 100510903: 100510903
111 MTTP NM_000253.3(MTTP): c.660T> C (p.Tyr220=) single nucleotide variant Uncertain significance rs113557405 GRCh38 Chromosome 4, 99591692: 99591692
112 MTTP NM_000253.3(MTTP): c.660T> C (p.Tyr220=) single nucleotide variant Uncertain significance rs113557405 GRCh37 Chromosome 4, 100512849: 100512849
113 MTTP NM_000253.3(MTTP): c.833A> G (p.Lys278Arg) single nucleotide variant Uncertain significance rs886058957 GRCh38 Chromosome 4, 99594807: 99594807
114 MTTP NM_000253.3(MTTP): c.833A> G (p.Lys278Arg) single nucleotide variant Uncertain significance rs886058957 GRCh37 Chromosome 4, 100515964: 100515964
115 MTTP NM_000253.3(MTTP): c.901T> C (p.Cys301Arg) single nucleotide variant Uncertain significance rs759706918 GRCh38 Chromosome 4, 99594875: 99594875
116 MTTP NM_000253.3(MTTP): c.901T> C (p.Cys301Arg) single nucleotide variant Uncertain significance rs759706918 GRCh37 Chromosome 4, 100516032: 100516032
117 MTTP NM_000253.3(MTTP): c.1023A> G (p.Lys341=) single nucleotide variant Uncertain significance rs145724674 GRCh38 Chromosome 4, 99597180: 99597180
118 MTTP NM_000253.3(MTTP): c.1023A> G (p.Lys341=) single nucleotide variant Uncertain significance rs145724674 GRCh37 Chromosome 4, 100518337: 100518337
119 MTTP NM_000253.3(MTTP): c.1557+7T> A single nucleotide variant Likely benign rs142706742 GRCh38 Chromosome 4, 99606967: 99606967
120 MTTP NM_000253.3(MTTP): c.1557+7T> A single nucleotide variant Likely benign rs142706742 GRCh37 Chromosome 4, 100528124: 100528124
121 MTTP NM_000253.3(MTTP): c.1769+3A> G single nucleotide variant Uncertain significance rs375993709 GRCh38 Chromosome 4, 99608980: 99608980
122 MTTP NM_000253.3(MTTP): c.1769+3A> G single nucleotide variant Uncertain significance rs375993709 GRCh37 Chromosome 4, 100530137: 100530137
123 MTTP NM_000253.3(MTTP): c.2043G> A (p.Glu681=) single nucleotide variant Uncertain significance rs145444300 GRCh38 Chromosome 4, 99612966: 99612966
124 MTTP NM_000253.3(MTTP): c.2043G> A (p.Glu681=) single nucleotide variant Uncertain significance rs145444300 GRCh37 Chromosome 4, 100534123: 100534123
125 MTTP NM_000253.3(MTTP): c.2513+13G> A single nucleotide variant Uncertain significance rs148073215 GRCh38 Chromosome 4, 99621244: 99621244
126 MTTP NM_000253.3(MTTP): c.2513+13G> A single nucleotide variant Uncertain significance rs148073215 GRCh37 Chromosome 4, 100542401: 100542401
127 MTTP NM_000253.3(MTTP): c.*517A> T single nucleotide variant Uncertain significance rs886058964 GRCh38 Chromosome 4, 99623365: 99623365
128 MTTP NM_000253.3(MTTP): c.*517A> T single nucleotide variant Uncertain significance rs886058964 GRCh37 Chromosome 4, 100544522: 100544522
129 MTTP NM_000253.3(MTTP): c.*862C> A single nucleotide variant Likely benign rs6832927 GRCh38 Chromosome 4, 99623710: 99623710
130 MTTP NM_000253.3(MTTP): c.*862C> A single nucleotide variant Likely benign rs6832927 GRCh37 Chromosome 4, 100544867: 100544867
131 MTTP NM_000253.3(MTTP): c.*1044G> T single nucleotide variant Uncertain significance rs886058965 GRCh38 Chromosome 4, 99623892: 99623892
132 MTTP NM_000253.3(MTTP): c.*1044G> T single nucleotide variant Uncertain significance rs886058965 GRCh37 Chromosome 4, 100545049: 100545049
133 DNMT1 NM_001130823.2(DNMT1): c.2718C> G (p.Phe906Leu) single nucleotide variant Uncertain significance rs1057518774 GRCh38 Chromosome 19, 10148886: 10148886
134 DNMT1 NM_001130823.2(DNMT1): c.2718C> G (p.Phe906Leu) single nucleotide variant Uncertain significance rs1057518774 GRCh37 Chromosome 19, 10259562: 10259562
135 MTTP NM_000253.3(MTTP): c.708_709delCA (p.His236Glnfs) deletion Pathogenic GRCh37 Chromosome 4, 100512897: 100512898
136 MTTP NM_000253.3(MTTP): c.708_709delCA (p.His236Glnfs) deletion Pathogenic GRCh38 Chromosome 4, 99591740: 99591741
137 MTTP NM_000253.3(MTTP): c.2212delT (p.Ser738Leufs) deletion Likely pathogenic GRCh38 Chromosome 4, 99613135: 99613135
138 MTTP NM_000253.3(MTTP): c.2212delT (p.Ser738Leufs) deletion Likely pathogenic GRCh37 Chromosome 4, 100534292: 100534292
139 MTTP NM_000253.3(MTTP): c.552A> T (p.Lys184Asn) single nucleotide variant Likely benign rs144315111 GRCh37 Chromosome 4, 100512442: 100512442
140 MTTP NM_000253.3(MTTP): c.552A> T (p.Lys184Asn) single nucleotide variant Likely benign rs144315111 GRCh38 Chromosome 4, 99591285: 99591285
141 MTTP NM_000253.3(MTTP): c.1016C> A (p.Ala339Glu) single nucleotide variant Uncertain significance rs137956833 GRCh37 Chromosome 4, 100518330: 100518330
142 MTTP NM_000253.3(MTTP): c.1016C> A (p.Ala339Glu) single nucleotide variant Uncertain significance rs137956833 GRCh38 Chromosome 4, 99597173: 99597173
143 MTTP NM_000253.3(MTTP): c.1770-10T> C single nucleotide variant Likely benign GRCh37 Chromosome 4, 100532290: 100532290
144 MTTP NM_000253.3(MTTP): c.1770-10T> C single nucleotide variant Likely benign GRCh38 Chromosome 4, 99611133: 99611133

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 10, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 APOA1 APOB APOE CETP HADHA LCAT
2
Show member pathways
12.31 APOA1 APOB APOE LPL
3
Show member pathways
12.09 APOA1 APOB APOE CETP LCAT LPL
4
Show member pathways
11.97 APOA1 APOB APOE
5
Show member pathways
11.95 APOA1 APOB APOE LPL
6
Show member pathways
11.56 APOA1 APOB APOE
7
Show member pathways
11.24 APOA1 APOB APOE CETP LCAT LPL
8
Show member pathways
11.2 HADHA LPL
9
Show member pathways
10.98 APOA1 APOB MTTP
10 10.81 APOA1 APOB

GO Terms for Abetalipoproteinemia

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

(showing 15, show less)
# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.97 APOA1 APOB APOE CETP LCAT LPL
2 endoplasmic reticulum lumen GO:0005788 9.8 APOA1 APOB APOE MTTP P4HB
3 early endosome GO:0005769 9.71 APOA1 APOB APOE
4 extracellular matrix GO:0031012 9.7 APOA1 APOE LPL
5 extracellular vesicle GO:1903561 9.55 APOA1 APOE
6 endocytic vesicle lumen GO:0071682 9.54 APOA1 APOB APOE
7 clathrin-coated endocytic vesicle membrane GO:0030669 9.51 APOB APOE
8 low-density lipoprotein particle GO:0034362 9.5 APOA1 APOB APOE
9 high-density lipoprotein particle GO:0034364 9.46 APOA1 APOE CETP LCAT
10 discoidal high-density lipoprotein particle GO:0034365 9.43 APOA1 APOE
11 intermediate-density lipoprotein particle GO:0034363 9.43 APOA1 APOB APOE
12 very-low-density lipoprotein particle GO:0034361 9.26 APOA1 APOB APOE LPL
13 chylomicron GO:0042627 8.92 APOA1 APOB APOE LPL
14 extracellular exosome GO:0070062 10.02 APOA1 APOB APOE CETP LCAT LPL
15 extracellular region GO:0005576 10 APOA1 APOB APOE CETP LCAT LPL

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

(showing 48, show less)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.97 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 cellular protein metabolic process GO:0044267 9.92 APOA1 APOB APOE P4HB
5 lipid metabolic process GO:0006629 9.91 APOA1 APOB APOE CETP HADHA LCAT
6 response to drug GO:0042493 9.88 APOA1 HADHA LPL
7 retinoid metabolic process GO:0001523 9.88 APOA1 APOB APOE LPL
8 receptor-mediated endocytosis GO:0006898 9.87 APOA1 APOB APOE
9 triglyceride metabolic process GO:0006641 9.85 APOE CETP LPL MTTP
10 cholesterol metabolic process GO:0008203 9.85 APOA1 APOB APOE CETP LCAT
11 cholesterol transport GO:0030301 9.83 APOA1 APOB CETP LCAT
12 phospholipid metabolic process GO:0006644 9.81 APOA1 LCAT LPL
13 triglyceride homeostasis GO:0070328 9.81 APOA1 APOE CETP LPL
14 triglyceride catabolic process GO:0019433 9.8 APOA1 APOB APOE LPL
15 phospholipid transport GO:0015914 9.78 APOA1 CETP MTTP
16 lipoprotein metabolic process GO:0042157 9.78 APOA1 APOB APOE MTTP
17 cholesterol efflux GO:0033344 9.77 APOA1 APOB APOE
18 phosphatidylcholine metabolic process GO:0046470 9.77 APOA1 CETP LCAT
19 low-density lipoprotein particle remodeling GO:0034374 9.76 APOB APOE CETP
20 very-low-density lipoprotein particle assembly GO:0034379 9.74 APOB MTTP P4HB
21 reverse cholesterol transport GO:0043691 9.73 APOA1 APOE CETP LCAT
22 high-density lipoprotein particle remodeling GO:0034375 9.71 APOA1 APOE CETP LCAT
23 cholesterol biosynthetic process GO:0006695 9.7 APOA1 APOE
24 lipid homeostasis GO:0055088 9.7 APOE CETP
25 phosphatidylcholine biosynthetic process GO:0006656 9.7 APOA1 LCAT
26 artery morphogenesis GO:0048844 9.69 APOB APOE
27 lipoprotein transport GO:0042953 9.69 APOB MTTP
28 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.68 APOB LPL
29 positive regulation of lipid biosynthetic process GO:0046889 9.68 APOA1 APOE
30 high-density lipoprotein particle assembly GO:0034380 9.68 APOA1 APOE
31 phospholipid efflux GO:0033700 9.68 APOA1 APOE
32 positive regulation of cholesterol esterification GO:0010873 9.67 APOA1 APOE
33 high-density lipoprotein particle clearance GO:0034384 9.67 APOA1 APOE
34 chylomicron remodeling GO:0034371 9.67 APOA1 APOB APOE LPL
35 phospholipid homeostasis GO:0055091 9.66 APOA1 CETP
36 vitamin transport GO:0051180 9.66 APOA1 TTPA
37 neuron projection regeneration GO:0031102 9.65 APOA1 APOE
38 chylomicron remnant clearance GO:0034382 9.65 APOB APOE
39 regulation of cholesterol transport GO:0032374 9.65 APOA1 APOE
40 regulation of Cdc42 protein signal transduction GO:0032489 9.64 APOA1 APOE
41 positive regulation of cholesterol storage GO:0010886 9.64 APOB LPL
42 very-low-density lipoprotein particle clearance GO:0034447 9.63 APOB APOE
43 triglyceride transport GO:0034197 9.62 CETP MTTP
44 lipoprotein biosynthetic process GO:0042158 9.62 APOA1 APOB APOE LCAT
45 lipoprotein catabolic process GO:0042159 9.61 APOB APOE
46 chylomicron assembly GO:0034378 9.55 APOA1 APOB APOE MTTP P4HB
47 very-low-density lipoprotein particle remodeling GO:0034372 9.35 APOA1 APOE CETP LCAT LPL
48 cholesterol homeostasis GO:0042632 9.17 APOA1 APOB APOE CETP LCAT LPL

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

(showing 13, show less)
# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.67 APOB APOE LPL
2 phospholipid binding GO:0005543 9.63 APOA1 APOB APOE
3 lipid binding GO:0008289 9.63 APOA1 APOB APOE CETP MTTP TTPA
4 cholesterol binding GO:0015485 9.54 APOA1 APOE CETP
5 phosphatidylcholine binding GO:0031210 9.52 APOA1 CETP
6 low-density lipoprotein particle receptor binding GO:0050750 9.51 APOB APOE
7 apolipoprotein binding GO:0034185 9.48 LPL MTTP
8 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.43 APOA1 APOE
9 phospholipid transporter activity GO:0005548 9.43 APOA1 CETP MTTP
10 lipoprotein particle binding GO:0071813 9.4 APOA1 APOE
11 triglyceride binding GO:0017129 9.32 CETP LPL
12 cholesterol transporter activity GO:0017127 9.26 APOA1 APOB APOE CETP
13 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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