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:

(show top 50) (show all 105)
# 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

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 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
# 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
# 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):

(show all 19)
# 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:


# 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:

(show top 50) (show all 258)
# 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

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 144)
# 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

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:

# 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:

(show all 15)
# 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:

(show all 48)
# 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:

(show all 13)
# 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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