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:

(show top 50) (show all 103)
# 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

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
NeurologicCentralNervousSystem:
ataxia

AbdomenGastrointestinal:
fat malabsorption

LaboratoryAbnormalities:
abetalipoproteinemia

HeadAndNeckEyes:
retinopathy

Hematology:
acanthocytosis
burr-cells

NeurologicPeripheralNervousSystem:
demyelination


Clinical features from OMIM:

200100

Human phenotypes related to Abetalipoproteinemia:

55 31 (show all 14)
# 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
# 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
# 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 SAR1B TTPA ANGPTL3 APOA1 APOB APOE
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):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Tocopherol Approved, Investigational, Nutraceutical Phase 2
2
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
3 Micronutrients Phase 2
4 Tocopherols Phase 2
5 Tocotrienols Phase 2
6 Trace Elements Phase 2
7 Vitamins Phase 2
8 Protective Agents Phase 2
9 Antioxidants Phase 2
10 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
11
Vitamin A Approved, Nutraceutical, Vet_approved 68-26-8, 11103-57-4 445354
12 Retinol palmitate
13 retinol Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Vitamin E Supplement in Patients With Cirrhosis and Acanthocytosis Completed NCT01463735 Phase 2
2 Vitamin Replacement in Abetalipoproteinemia Completed NCT00004574
3 Lipoprotein Metabolism in Normal Volunteers and Patients With High Levels of Lipoproteins Recruiting NCT00001154
4 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940

Search NIH Clinical Center for Abetalipoproteinemia

Cochrane evidence based reviews: abetalipoproteinemia

Genetic Tests for Abetalipoproteinemia

Genetic tests related to Abetalipoproteinemia:

# Genetic test Affiliating Genes
1 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:

(show top 50) (show all 256)
# 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

Variations for Abetalipoproteinemia

UniProtKB/Swiss-Prot genetic disease variations for Abetalipoproteinemia:

71
# 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 (show all 32)
# 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:

(show all 12)
# 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:

(show all 14)
# 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:

(show top 50) (show all 52)
# 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

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

(show all 17)
# 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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