ABL
MCID: ABT001
MIFTS: 67

Abetalipoproteinemia (ABL)

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

Aliases & Classifications for Abetalipoproteinemia

MalaCards integrated aliases for Abetalipoproteinemia:

Name: Abetalipoproteinemia 57 12 53 25 59 75 37 13 55 44 15 73
Familial Hypobetalipoproteinemia 12 53 25 37 29 6 73
Acanthocytosis 57 76 25 75 29 6 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
Hypobetalipoprot�inemia, Familial 76
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 83123000
Orphanet 59 ORPHA14
MESH via Orphanet 45 D000012
UMLS via Orphanet 74 C0000744
ICD10 via Orphanet 34 E78.6
MedGen 42 C0000744

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 familial hypobetalipoproteinemia, is related to hypobetalipoproteinemia, familial, 1 and chylomicron retention disease, and has symptoms including ataxia An important gene associated with Abetalipoproteinemia is MTTP (Microsomal Triglyceride Transfer Protein), and among its related pathways/superpathways are Fat digestion and absorption and Vitamin digestion and absorption. The drugs Tocopherol and Vitamin E have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and lung, and related phenotypes are ataxia and muscular hypotonia

Disease Ontology : 12 A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has material basis in an autosomal recessive disorder of lipid metabolism that has material basis in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS.

Genetics Home Reference : 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.

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.

Wikipedia : 76 Acanthocyte (from the Greek word �?κανθα 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 632)
# Related Disease Score Top Affiliating Genes
1 hypobetalipoproteinemia, familial, 1 32.4 APOB MTTP SAR1B
2 chylomicron retention disease 32.0 APOA1 APOB MTTP SAR1B
3 hypobetalipoproteinemia, familial, 2 31.5 APOA1 APOB CETP LPL
4 mitochondrial trifunctional protein deficiency 31.4 HADHA HADHB
5 myocardial infarction 31.1 APOA1 APOB APOE CETP LDLR
6 hypolipoproteinemia 31.0 SAR1B MTTP LPL LCAT APOE APOB
7 diabetes mellitus, noninsulin-dependent 30.5 APOA1 APOB APOE CETP LCAT LPL
8 fatty liver disease, nonalcoholic 1 30.1 HADHA MTTP
9 homozygous familial hypercholesterolemia 29.8 APOB APOE LDLR MTTP
10 macular degeneration, age-related, 1 29.2 APOB APOE CETP
11 lecithin:cholesterol acyltransferase deficiency 29.1 APOA1 APOB APOE CETP LCAT LDLR
12 hypercholesterolemia, familial 29.0 APOA1 APOB APOE CETP LCAT LDLR
13 vascular disease 28.7 APOA1 APOB APOE CETP LDLR LPL
14 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration 12.5
15 choreoacanthocytosis 12.4
16 wolman disease with hypolipoproteinemia and acanthocytosis 12.1
17 leukemia, chronic myeloid 12.1
18 atypical chronic myeloid leukemia 11.9
19 mcleod syndrome 11.8
20 nguyen syndrome 11.5
21 infertility 11.3
22 depression 11.2
23 spinal muscular atrophy 11.2
24 chronic neutrophilic leukemia 11.2
25 spinal cord injury 11.1
26 cervical cancer 11.0
27 bronchiolitis 11.0
28 esophagitis, eosinophilic, 1 11.0
29 cataract 11.0
30 lung disease 11.0
31 viral infectious disease 11.0
32 butyrylcholinesterase deficiency 10.9
33 chronic fatigue syndrome 10.9
34 leukemia 10.9
35 sucrase-isomaltase deficiency, congenital 10.9
36 hartnup disorder 10.9
37 spinal muscular atrophy, type i 10.9
38 spinal muscular atrophy, type iii 10.9
39 male infertility 10.9
40 nocardiosis 10.9
41 myeloid leukemia 10.8
42 atrial standstill 1 10.7
43 brachydactyly, type a2 10.7
44 leukocyte adhesion deficiency, type i 10.7
45 papillorenal syndrome 10.7
46 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.7
47 fibrosis of extraocular muscles, congenital, 1 10.7
48 adermatoglyphia 10.7
49 corneal dystrophy, fuchs endothelial, 1 10.7
50 hawkinsinuria 10.7

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 (show all 14)
# 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 cns demyelination 32 HP:0007305
14 abetalipoproteinemia 32 HP:0008181

UMLS symptoms related to Abetalipoproteinemia:


ataxia

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.43 APOA1 APOB APOE CETP LDLR LPL
2 Increased LDL uptake GR00340-A-1 8.92 APOA1 APOE LDLR LPL

MGI Mouse Phenotypes related to Abetalipoproteinemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.03 APOA1 APOB APOE HADHA HADHB LCAT
2 cardiovascular system MP:0005385 10.02 APOA1 APOB APOE HADHA HADHB LCAT
3 liver/biliary system MP:0005370 9.81 APOA1 APOB APOE HADHA HADHB LCAT
4 muscle MP:0005369 9.5 APOB APOE HADHA HADHB LDLR LPL
5 vision/eye MP:0005391 9.1 APOB APOE LCAT LDLR TRMT10A TTPA

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 Phase 2 1406-66-2 14986
2
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
3 Tocotrienol Investigational Phase 2 6829-55-6
4 Antioxidants Phase 2
5 Trace Elements Phase 2
6 Tocotrienols Phase 2
7 Micronutrients Phase 2
8 Tocopherols Phase 2
9 Vitamins Phase 2
10 Protective Agents Phase 2
11
Vitamin A Approved, Nutraceutical, Vet_approved 11103-57-4, 68-26-8 445354
12 Retinol palmitate
13 retinol

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 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 Abetalipoproteinaemia 29 MTTP
2 Familial Hypobetalipoproteinemia 29
3 Acanthocytosis 29

Anatomical Context for Abetalipoproteinemia

MalaCards organs/tissues related to Abetalipoproteinemia:

41
Eye, Liver, Lung, Heart, T Cells, B Cells, Myeloid

Publications for Abetalipoproteinemia

Articles related to Abetalipoproteinemia:

(show top 50) (show all 261)
# Title Authors Year
1
Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease. ( 30021760 )
2018
2
Abetalipoproteinemia From Previously Unreported Gene Mutations. ( 30398540 )
2018
3
Clinical and biochemical characteristics of individuals with low cholesterol syndromes: AA comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia. ( 28733173 )
2017
4
A tale of 2 cousins: An atypical and a typical case of abetalipoproteinemia. ( 27578136 )
2016
5
Lipoprotein metabolism in an apoB-80 familial hypobetalipoproteinemia heterozygote. ( 26916057 )
2016
6
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
7
Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia. ( 27179706 )
2016
8
Characterization of a mutant form of human apolipoprotein B (Thr26_Tyr27del) associated with familial hypobetalipoproteinemia. ( 26825690 )
2016
9
Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects. ( 27487388 )
2016
10
Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B. ( 26612772 )
2016
11
Homozygous familial hypobetalipoproteinemia: two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature. ( 25618028 )
2015
12
Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal I^-Barrel in Microsomal Triglyceride Transfer Protein Function. ( 26224785 )
2015
13
Fat accumulation in enterocytes: a key to the diagnosis of abetalipoproteinemia or homozygous hypobetalipoproteinemia. ( 26062159 )
2015
14
An Infant with Chronic Diarrhoea and Failure to Thrive: Familial Hypobetalipoproteinemia. ( 26816882 )
2015
15
Macular atrophy in a case of abetalipoproteinemia as only ocular clinical feature. ( 26040232 )
2015
16
SPG11 mutation in a Turkish familial hypobetalipoproteinemia family with hereditary spastic paraplegia. ( 25769290 )
2015
17
Clinical and genetic analysis of a family diagnosed with familial hypobetalipoproteinemia in which the proband was diagnosed with diabetes mellitus. ( 25733326 )
2015
18
A Male Infant with Abetalipoproteinemia: A Case Report from Iran. ( 26396722 )
2015
19
Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia. ( 26086616 )
2015
20
Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia. ( 25763510 )
2015
21
The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations. ( 26073401 )
2015
22
Lipoprotein Metabolism in APOB L343V Familial Hypobetalipoproteinemia. ( 26323024 )
2015
23
Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia. ( 24139731 )
2014
24
Hypobetalipoproteinemia and abetalipoproteinemia. ( 24751931 )
2014
25
Clinical, hematological, and imaging observations in a 25-year-old woman with abetalipoproteinemia. ( 24753676 )
2014
26
Novel missense MTTP gene mutations causing abetalipoproteinemia. ( 25108285 )
2014
27
A successful spontaneous pregnancy in abetalipoproteinemia: Amsterdam or the art of vitamin replacement? ( 25488886 )
2014
28
Knee pain: an unanticipated finding related to a rare genetic disorder--abetalipoproteinemia. ( 24170593 )
2013
29
Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene. ( 23556456 )
2013
30
Inhibitory effects of in vivo oxidized high-density lipoproteins on platelet aggregation: evidence from patients with abetalipoproteinemia. ( 23507868 )
2013
31
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia. ( 23043934 )
2013
32
Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. ( 24288038 )
2013
33
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia. ( 23475612 )
2013
34
Familial hypobetalipoproteinemia: analysis of three Spanish cases with two new mutations in the APOB gene. ( 24001780 )
2013
35
Ataxia with vitamin E deficiency and abetalipoproteinemia. ( 21827896 )
2012
36
Familial hypobetalipoproteinemia-induced nonalcoholic steatohepatitis. ( 22855658 )
2012
37
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia. ( 22236406 )
2012
38
Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia. ( 22150066 )
2012
39
Chronic adrenal failure and hypergonadotropic hypogonadism in a patient with abetalipoproteinemia. ( 23090820 )
2012
40
Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation. ( 22155345 )
2012
41
Deep brain stimulation for the treatment of tremor and ataxia associated with abetalipoproteinemia. ( 23440258 )
2012
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
Disc swelling in abetalipoproteinemia: a novel feature of Bassen-Kornzweig syndrome. ( 21484752 )
2011
45
Abetalipoproteinemia in a Saudi infant. ( 21333248 )
2011
46
Red cells in abetalipoproteinemia. ( 21534356 )
2011
47
Familial hypobetalipoproteinemia in a hospital survey: genetics, metabolism and non-alcoholic fatty liver disease. ( 21502677 )
2011
48
Rickets and dysmorphic findings in a child with abetalipoproteinemia. ( 21484009 )
2011
49
Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B. ( 20032471 )
2010
50
New mutations in APOB100 involved in familial hypobetalipoproteinemia. ( 21122650 )
2010

Variations for Abetalipoproteinemia

UniProtKB/Swiss-Prot genetic disease variations for Abetalipoproteinemia:

75
# 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 top 50) (show all 650)
# 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.383T> C (p.Ile128Thr) single nucleotide variant Benign rs3816873 GRCh37 Chromosome 4, 100504664: 100504664
14 MTTP NM_000253.3(MTTP): c.383T> C (p.Ile128Thr) single nucleotide variant Benign rs3816873 GRCh38 Chromosome 4, 99583507: 99583507
15 MTTP NM_000253.3(MTTP): c.2593G> T (p.Gly865Ter) single nucleotide variant Pathogenic rs146064714 GRCh37 Chromosome 4, 100543913: 100543913
16 MTTP NM_000253.3(MTTP): c.2593G> T (p.Gly865Ter) single nucleotide variant Pathogenic rs146064714 GRCh38 Chromosome 4, 99622756: 99622756
17 APOB NM_000384.2(APOB): c.5263_5266delAACA (p.Asn1755Valfs) deletion Pathogenic rs281865425 GRCh37 Chromosome 2, 21234474: 21234477
18 APOB NM_000384.2(APOB): c.5263_5266delAACA (p.Asn1755Valfs) deletion Pathogenic rs281865425 GRCh38 Chromosome 2, 21011602: 21011605
19 APOB NM_000384.2(APOB): c.5463delG (p.His1822Metfs) deletion Pathogenic rs397514255 GRCh37 Chromosome 2, 21234277: 21234277
20 APOB NM_000384.2(APOB): c.5463delG (p.His1822Metfs) deletion Pathogenic rs397514255 GRCh38 Chromosome 2, 21011405: 21011405
21 APOB NM_000384.2(APOB): c.3997C> T (p.Arg1333Ter) single nucleotide variant Pathogenic rs121918383 GRCh37 Chromosome 2, 21236251: 21236251
22 APOB NM_000384.2(APOB): c.3997C> T (p.Arg1333Ter) single nucleotide variant Pathogenic rs121918383 GRCh38 Chromosome 2, 21013379: 21013379
23 APOB NM_000384.2(APOB): c.5566_5567delGT (p.Val1856Cysfs) deletion Pathogenic rs121918384 GRCh37 Chromosome 2, 21234173: 21234174
24 APOB NM_000384.2(APOB): c.5566_5567delGT (p.Val1856Cysfs) deletion Pathogenic rs121918384 GRCh38 Chromosome 2, 21011301: 21011302
25 APOB NM_000384.2(APOB): c.12181delG (p.Glu4061Argfs) deletion Pathogenic rs121918385 GRCh37 Chromosome 2, 21226113: 21226113
26 APOB NM_000384.2(APOB): c.12181delG (p.Glu4061Argfs) deletion Pathogenic rs121918385 GRCh38 Chromosome 2, 21003241: 21003241
27 APOB APOB, EX21DEL deletion Pathogenic
28 APOB NM_000384.2(APOB): c.6253C> T (p.Arg2085Ter) single nucleotide variant Pathogenic rs121918386 GRCh37 Chromosome 2, 21233487: 21233487
29 APOB NM_000384.2(APOB): c.6253C> T (p.Arg2085Ter) single nucleotide variant Pathogenic rs121918386 GRCh38 Chromosome 2, 21010615: 21010615
30 APOB NM_000384.2(APOB): c.11905delG (p.Glu3969Asnfs) deletion Pathogenic rs387906569 GRCh37 Chromosome 2, 21227323: 21227323
31 APOB NM_000384.2(APOB): c.11905delG (p.Glu3969Asnfs) deletion Pathogenic rs387906569 GRCh38 Chromosome 2, 21004451: 21004451
32 APOB NM_000384.2(APOB): c.4352delG (p.Gly1451Valfs) deletion Pathogenic rs397514256 GRCh37 Chromosome 2, 21235388: 21235388
33 APOB NM_000384.2(APOB): c.4352delG (p.Gly1451Valfs) deletion Pathogenic rs397514256 GRCh38 Chromosome 2, 21012516: 21012516
34 APOB NM_000384.2(APOB): c.10580G> A (p.Arg3527Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs5742904 GRCh37 Chromosome 2, 21229160: 21229160
35 APOB NM_000384.2(APOB): c.10580G> A (p.Arg3527Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs5742904 GRCh38 Chromosome 2, 21006288: 21006288
36 APOB NM_000384.2(APOB): c.9199delA (p.Lys3067Argfs) deletion Pathogenic rs121918387 GRCh37 Chromosome 2, 21230541: 21230541
37 APOB NM_000384.2(APOB): c.9199delA (p.Lys3067Argfs) deletion Pathogenic rs121918387 GRCh38 Chromosome 2, 21007669: 21007669
38 APOB NM_000384.2(APOB): c.4429C> T (p.Gln1477Ter) single nucleotide variant Pathogenic rs121918389 GRCh37 Chromosome 2, 21235311: 21235311
39 APOB NM_000384.2(APOB): c.4429C> T (p.Gln1477Ter) single nucleotide variant Pathogenic rs121918389 GRCh38 Chromosome 2, 21012439: 21012439
40 APOB NM_000384.2(APOB): c.7564C> T (p.Arg2522Ter) single nucleotide variant Pathogenic rs121918390 GRCh37 Chromosome 2, 21232176: 21232176
41 APOB NM_000384.2(APOB): c.7564C> T (p.Arg2522Ter) single nucleotide variant Pathogenic rs121918390 GRCh38 Chromosome 2, 21009304: 21009304
42 APOB NM_000384.2(APOB): c.11712delC (p.Asn3904Lysfs) deletion Pathogenic rs587776852 GRCh37 Chromosome 2, 21228028: 21228028
43 APOB NM_000384.2(APOB): c.11712delC (p.Asn3904Lysfs) deletion Pathogenic rs587776852 GRCh38 Chromosome 2, 21005156: 21005156
44 APOB APOB, IVS7AS, A-G, -2 single nucleotide variant Pathogenic
45 APOB APOB, 1-BP DEL, 4432T deletion Pathogenic
46 APOB NM_000384.2(APOB): c.905-1_905dupGG duplication Pathogenic rs606231236 GRCh37 Chromosome 2, 21256390: 21256391
47 APOB NM_000384.2(APOB): c.905-1_905dupGG duplication Pathogenic rs606231236 GRCh38 Chromosome 2, 21033518: 21033519
48 PCSK9 NM_174936.3(PCSK9): c.-64C> T single nucleotide variant Benign/Likely benign rs45448095 GRCh37 Chromosome 1, 55505447: 55505447
49 PCSK9 NM_174936.3(PCSK9): c.-64C> T single nucleotide variant Benign/Likely benign rs45448095 GRCh38 Chromosome 1, 55039774: 55039774
50 PCSK9 NM_174936.3(PCSK9): c.158C> T (p.Ala53Val) single nucleotide variant Benign/Likely benign rs11583680 GRCh37 Chromosome 1, 55505668: 55505668

Expression for Abetalipoproteinemia

Search GEO for disease gene expression data for Abetalipoproteinemia.

Pathways for Abetalipoproteinemia

Pathways related to Abetalipoproteinemia according to KEGG:

37
# Name Kegg Source Accession
1 Fat digestion and absorption hsa04975
2 Vitamin digestion and absorption hsa04977

Pathways related to Abetalipoproteinemia according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.57 APOA1 APOB APOE CETP HADHA HADHB
2
Show member pathways
12.33 APOA1 APOB APOE LDLR LPL
3
Show member pathways
12.07 APOA1 APOB APOE LDLR
4
Show member pathways
11.99 APOA1 APOB APOE LDLR LPL
5
Show member pathways
11.86 APOA1 APOB APOE CETP LCAT LDLR
6
Show member pathways
11.7 APOA1 APOB APOE
7
Show member pathways
11.63 APOA1 APOB APOE CETP LCAT LDLR
8 11.5 LDLR LPL SAR1B
9
Show member pathways
11.3 HADHA HADHB LPL
10
Show member pathways
11.19 APOA1 APOB MTTP
11 11.04 APOE LDLR
12 10.9 APOA1 APOB
13 10.61 HADHA HADHB
14
Show member pathways
10.48 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 endoplasmic reticulum GO:0005783 9.99 APOB APOE HADHB MTTP P4HB SAR1B
2 endoplasmic reticulum lumen GO:0005788 9.8 APOA1 APOB APOE MTTP P4HB
3 early endosome GO:0005769 9.78 APOA1 APOB APOE LDLR
4 clathrin-coated endocytic vesicle membrane GO:0030669 9.61 APOB APOE LDLR
5 high-density lipoprotein particle GO:0034364 9.56 APOA1 APOE CETP LCAT
6 endocytic vesicle lumen GO:0071682 9.54 APOA1 APOB APOE
7 endoplasmic reticulum exit site GO:0070971 9.52 APOB SAR1B
8 intermediate-density lipoprotein particle GO:0034363 9.5 APOA1 APOB APOE
9 discoidal high-density lipoprotein particle GO:0034365 9.46 APOA1 APOE
10 very-low-density lipoprotein particle GO:0034361 9.46 APOA1 APOB APOE LPL
11 low-density lipoprotein particle GO:0034362 9.26 APOA1 APOB APOE LDLR
12 chylomicron GO:0042627 8.92 APOA1 APOB APOE LPL
13 extracellular region GO:0005576 10.08 APOA1 APOB APOE CETP LCAT LPL
14 extracellular exosome GO:0070062 10.04 APOA1 APOB APOE CETP LCAT P4HB

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 post-translational protein modification GO:0043687 9.99 APOA1 APOB APOE P4HB
2 lipid transport GO:0006869 9.97 APOA1 APOB APOE CETP LDLR MTTP
3 steroid metabolic process GO:0008202 9.95 APOA1 APOB APOE CETP LCAT LDLR
4 cellular protein metabolic process GO:0044267 9.94 APOA1 APOB APOE P4HB
5 receptor-mediated endocytosis GO:0006898 9.93 APOA1 APOB APOE LDLR
6 cholesterol metabolic process GO:0008203 9.91 APOA1 APOB APOE CETP LCAT LDLR
7 phospholipid transport GO:0015914 9.88 APOA1 CETP LDLR MTTP
8 membrane organization GO:0061024 9.87 APOB LDLR SAR1B
9 triglyceride metabolic process GO:0006641 9.87 APOE CETP LPL MTTP
10 triglyceride homeostasis GO:0070328 9.86 APOA1 APOE CETP LPL
11 triglyceride catabolic process GO:0019433 9.85 APOA1 APOB APOE LPL
12 phospholipid metabolic process GO:0006644 9.84 APOA1 LCAT LPL
13 reverse cholesterol transport GO:0043691 9.83 APOA1 APOE CETP LCAT
14 retinoid metabolic process GO:0001523 9.81 APOA1 APOB APOE
15 high-density lipoprotein particle remodeling GO:0034375 9.81 APOA1 APOE CETP LCAT
16 cholesterol efflux GO:0033344 9.79 APOA1 APOB APOE
17 low-density lipoprotein particle remodeling GO:0034374 9.78 APOB APOE CETP
18 very-low-density lipoprotein particle assembly GO:0034379 9.77 APOB MTTP P4HB
19 high-density lipoprotein particle clearance GO:0034384 9.77 APOA1 APOE LDLR
20 cholesterol transport GO:0030301 9.77 APOA1 APOB CETP LCAT LDLR
21 chylomicron remnant clearance GO:0034382 9.76 APOB APOE LDLR
22 chylomicron remodeling GO:0034371 9.76 APOA1 APOB APOE LPL
23 lipoprotein metabolic process GO:0042157 9.72 APOA1 APOB APOE LDLR MTTP
24 long-term memory GO:0007616 9.71 APOE LDLR
25 phosphatidylcholine biosynthetic process GO:0006656 9.71 APOA1 LCAT
26 positive regulation of endocytosis GO:0045807 9.71 APOE LDLR
27 lipoprotein transport GO:0042953 9.71 APOB MTTP
28 lipoprotein catabolic process GO:0042159 9.71 APOB APOE LDLR
29 lipoprotein biosynthetic process GO:0042158 9.71 APOA1 APOB APOE LCAT
30 low-density lipoprotein particle clearance GO:0034383 9.7 APOB LDLR
31 artery morphogenesis GO:0048844 9.7 APOB APOE
32 positive regulation of lipid biosynthetic process GO:0046889 9.7 APOA1 APOE
33 lipid metabolic process GO:0006629 9.7 APOA1 APOB APOE CETP HADHA HADHB
34 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.69 APOB LPL
35 regulation of cholesterol metabolic process GO:0090181 9.69 APOE LDLR
36 high-density lipoprotein particle assembly GO:0034380 9.68 APOA1 APOE
37 phosphatidylcholine metabolic process GO:0046470 9.68 CETP LCAT
38 phospholipid efflux GO:0033700 9.68 APOA1 APOE
39 regulation of protein metabolic process GO:0051246 9.68 APOE LDLR
40 phospholipid homeostasis GO:0055091 9.67 APOA1 CETP
41 positive regulation of cholesterol esterification GO:0010873 9.67 APOA1 APOE
42 vitamin transport GO:0051180 9.67 APOA1 TTPA
43 positive regulation of cholesterol storage GO:0010886 9.66 APOB LPL
44 regulation of Cdc42 protein signal transduction GO:0032489 9.65 APOA1 APOE
45 regulation of cholesterol transport GO:0032374 9.65 APOA1 APOE
46 cholesterol import GO:0070508 9.65 APOA1 LDLR
47 chylomicron assembly GO:0034378 9.65 APOA1 APOB APOE MTTP P4HB
48 very-low-density lipoprotein particle clearance GO:0034447 9.64 APOB APOE
49 triglyceride transport GO:0034197 9.62 CETP MTTP
50 response to caloric restriction GO:0061771 9.62 APOE LDLR

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.76 APOB APOE LPL
2 phospholipid binding GO:0005543 9.73 APOA1 APOB APOE
3 amyloid-beta binding GO:0001540 9.7 APOA1 APOE LDLR
4 lipid binding GO:0008289 9.63 APOA1 APOB APOE CETP MTTP TTPA
5 low-density lipoprotein particle receptor binding GO:0050750 9.58 APOB APOE
6 cholesterol binding GO:0015485 9.58 APOA1 APOE CETP
7 apolipoprotein binding GO:0034185 9.57 LPL MTTP
8 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.55 HADHA HADHB
9 enoyl-CoA hydratase activity GO:0004300 9.54 HADHA HADHB
10 acetyl-CoA C-acyltransferase activity GO:0003988 9.51 HADHA HADHB
11 lipoprotein particle binding GO:0071813 9.49 APOA1 APOE
12 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.48 APOA1 APOE
13 acetyl-CoA C-acetyltransferase activity GO:0003985 9.46 HADHA HADHB
14 long-chain-enoyl-CoA hydratase activity GO:0016508 9.43 HADHA HADHB
15 phospholipid transporter activity GO:0005548 9.43 APOA1 CETP MTTP
16 long-chain-3-hydroxyacyl-CoA dehydrogenase activity GO:0016509 9.37 HADHA HADHB
17 triglyceride binding GO:0017129 9.32 CETP LPL
18 cholesterol transporter activity GO:0017127 9.26 APOA1 APOB APOE CETP
19 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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