MCID: ABT001
MIFTS: 59

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 54 12 50 24 25 56 71 29 13 52 42 14 69
Familial Hypobetalipoproteinemia 12 50 25 69
Acanthocytosis 25 71 29 69
Microsomal Triglyceride Transfer Protein Deficiency Disease 12 50 25
Abetalipoproteinemia Neuropathy 50 25 69
Abl 50 24 71
Microsomal Triglyceride Transfer Protein Deficiency 50 71
Congenital Betalipoprotein Deficiency Syndrome 50 25
Homozygous Familial Hypobetalipoproteinemia 50 56
Betalipoprotein Deficiency Disease 50 25
Apolipoprotein B Deficiency 50 25
Bassen-Kornzweig Syndrome 25 71
Bassen-Kornzweig Disease 50 56
Mtp Deficiency 50 71
Fhbl 50 25
Hypobetalipoproteinemia, Familial, Apolipoprotein B 69
Hypobetalipoproteinemia, Familial 50
Bassen Kornzweig Syndrome 50
Hypobetalipoproteinemias 69
Hypobetalipoproteinemia 25

Characteristics:

Orphanet epidemiological data:

56
abetalipoproteinemia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
abetalipoproteinemia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 200100
Disease Ontology 12 DOID:1386
ICD10 33 E78.6
MeSH 42 D000012
NCIt 47 C84525
SNOMED-CT 64 190787008 83123000
Orphanet 56 ORPHA14
MESH via Orphanet 43 D000012
UMLS via Orphanet 70 C0000744
ICD10 via Orphanet 34 E78.6
MedGen 40 C0000744
UMLS 69 C0000744

Summaries for Abetalipoproteinemia

NIH Rare Diseases : 50 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 familial hypobetalipoproteinemia, is related to hypobetalipoproteinemia and choreoacanthocytosis, and has symptoms including visual impairment, ataxia and malabsorption. 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 Decreased free cholesterol and Increased LDL uptake

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).

Genetics Home Reference : 25 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.

OMIM : 54
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.

Wikipedia : 72 Abetalipoproteinemia, or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder that... more...

Related Diseases for Abetalipoproteinemia

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

(showing 97, show less)
id Related Disease Score Top Affiliating Genes
1 hypobetalipoproteinemia 32.3 APOB APOE LCAT MTTP
2 choreoacanthocytosis 12.0
3 harp syndrome 11.7
4 trifunctional protein deficiency 11.5
5 atypical chronic myeloid leukemia 11.5
6 mcleod syndrome with or without chronic granulomatous disease 11.2
7 leukemia, chronic myeloid, somatic 11.2
8 chylomicron retention disease 11.1
9 chronic neutrophilic leukemia 10.9
10 rhabdomyosarcoma 10.8
11 hypolipoproteinemia 10.8
12 hypobetalipoproteinemia, familial, 2 10.8
13 leukemia 10.7
14 pseudocholinesterase deficiency 10.7
15 xk aprosencephaly 10.7 APOB APOE
16 hypercholesterolemia, due to ligand-defective apo b 10.6 APOB APOE
17 hartnup disorder 10.6
18 spinal muscular atrophy-1 10.6
19 spinal muscular atrophy-3 10.6
20 lipoprotein glomerulopathy 10.6 APOE LCAT
21 aquagenic syringeal acrokeratoderm 10.6 APOA1 LCAT
22 immunodeficiency 19 10.6 APOE LPL
23 cataract, autosomal dominant congenital 4 10.5 APOB APOE
24 abducens nerve neoplasm 10.5 APOB LPL
25 pars planitis 10.5 APOA1 APOE
26 short stature, brachydactyly, intellectual developmental disability, and seizures 10.5 APOA1 LCAT
27 otospondylomegaepiphyseal dysplasia 10.5 APOA1 APOB
28 cirrhotic cardiomyopathy 10.5 APOE LPL
29 delta-1-pyrroline-5-carboxylate dehydrogenase deficiency 10.4 APOB APOE LCAT
30 mental retardation, autosomal dominant 45 10.4 APOB APOE LCAT
31 carnitine deficiency, systemic primary 10.4 APOA1 APOB MTTP
32 amyloidosis nodular localized cutaneous 10.4 APOA1 LCAT
33 legg-calve-perthes disease 10.4 APOA1 APOB
34 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression 10.4 APOB APOE LPL
35 migraine with or without aura 1 10.4 APOA1 APOB APOE
36 malignant fibrous histiocytoma of bone 10.3 APOB APOE LPL
37 familial osteochondritis dissecans 10.3 APOA1 APOE LCAT
38 glossopharyngeal nerve disease 10.3 APOA1 APOB APOE
39 amelogenesis imperfecta, type iia3 10.3 APOA1 APOE LPL
40 myelophthisic anemia 10.3 APOA1 APOB APOE
41 malignant type ab thymoma 10.2 APOA1 APOB APOE
42 retinal degeneration 10.2 APOB IGF1
43 ulcerative colitis 10.1 APOE IGF1
44 islet cell tumor 10.1 APOA1 APOB APOE LPL
45 phacolytic glaucoma 10.1 BGLAP IGF1
46 central nervous system disease 10.1
47 nervous system disease 10.1
48 pontocerebellar hypoplasia 10.0 APOA1 APOB APOE CETP
49 melorheostosis 10.0 APOA1 APOB APOE CETP
50 joubert syndrome 21 10.0 APOA1 APOB TTPA
51 fetal parvovirus syndrome 10.0 APOA1 APOB IGF1 LCAT
52 hepatitis 9.9
53 neuropathy 9.9
54 arthritis 9.9 APOE CETP
55 rickets 9.9
56 angioid streaks 9.9
57 abca12-related autosomal recessive congenital ichthyosis 9.8 HADHA HADHB
58 ataxia 9.8
59 stone in bladder diverticulum 9.7 APOA1 APOB APOE CETP LCAT
60 obesity, hyperphagia, and developmental delay 9.7 APOA1 APOB APOE CETP LCAT
61 peripheral artery disease 9.7 APOA1 APOB APOE CETP LCAT
62 alzheimer disease-2 9.7 APOA1 APOB APOE CETP LPL
63 hyperlipidemia, familial combined 9.7 APOA1 APOB APOE CETP LPL
64 hyperchylomicronemia, late-onset 9.7 APOA1 APOB APOE CETP LPL
65 doyne honeycomb degeneration of retina 9.7 HADHA HADHB
66 pericarditis 9.7 APOA1 APOB APOE CETP LPL
67 candidal paronychia 9.6 APOB CD1A HADHA
68 acrodermatitis enteropathica 9.6
69 hypogonadism 9.6
70 tremor 9.6
71 acrodermatitis 9.6
72 homozygous familial hypercholesterolemia 9.6
73 dubin-johnson syndrome 9.6
74 adenocarcinoma 9.6
75 anorexia nervosa 9.6
76 retinitis 9.6
77 myopathy 9.6
78 pneumonia 9.6
79 retinitis pigmentosa 9.6
80 chorioretinitis 9.6
81 ataxia with vitamin e deficiency 9.6
82 enteropathica 9.6
83 glioblastoma 9.6
84 bird fancier's lung 9.6 APOA1 APOB APOE LCAT LPL MTTP
85 chondrocalcinosis with early-onset osteoarthritis 9.4 APOA1 APOB APOE CETP LCAT LPL
86 fish-eye disease 9.4 APOA1 APOB APOE CETP LCAT LPL
87 apolipoprotein c-iii deficiency 9.4 APOA1 APOB APOE CETP LCAT LPL
88 acute apical periodontitis 9.4 APOA1 APOB APOE CETP LCAT LPL
89 lissencephaly 6, with microcephaly 9.4 APOA1 APOB APOE CETP LCAT LPL
90 cystinosis, ocular nonnephropathic 9.4 HADHA HADHB
91 macular degeneration, age-related, 12 9.4 APOA1 APOB APOE CETP LCAT LPL
92 skin squamous cell carcinoma 9.2 APOA1 APOB APOE CETP LCAT LPL
93 codas syndrome 9.2 APOA1 APOB APOE CETP LCAT LPL
94 hepatic adenoma, somatic 9.1 APOA1 APOB BGLAP CETP IGF1 LPL
95 von hippel-lindau syndrome 9.0 APOA1 APOB APOE CETP IGF1 LCAT
96 maturity-onset diabetes of the young 6 8.8 APOA1 APOB APOE CETP IGF1 LCAT
97 wolfram syndrome 2 5.5 APOA1 APOB APOE BGLAP CD1A CETP

Graphical network of the top 20 diseases related to Abetalipoproteinemia:



Diseases related to Abetalipoproteinemia

Symptoms & Phenotypes for Abetalipoproteinemia

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
ataxia

Head And Neck- Eyes:
retinopathy

Abdomen- Gastroin testinal:
fat malabsorption

Hematology:
acanthocytosis
burr-cells

Neurologic- Peripheral Nervous System:
demyelination

Laboratory- Abnormalities:
abetalipoproteinemia


Clinical features from OMIM:

200100

Human phenotypes related to Abetalipoproteinemia:

56 32 (showing 14, show less)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000505
2 ataxia 56 32 frequent (33%) Frequent (79-30%) HP:0001251
3 malabsorption 56 32 hallmark (90%) Very frequent (99-80%) HP:0002024
4 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
5 abnormality of retinal pigmentation 56 32 frequent (33%) Frequent (79-30%) HP:0007703
6 abnormality of movement 56 32 frequent (33%) Frequent (79-30%) HP:0100022
7 reduced tendon reflexes 56 32 frequent (33%) Frequent (79-30%) HP:0001315
8 acanthocytosis 32 HP:0001927
9 retinopathy 32 HP:0000488
10 pigmentary retinal degeneration 32 HP:0001146
11 fat malabsorption 32 HP:0002630
12 abetalipoproteinemia 32 HP:0008181
13 peripheral demyelination 32 HP:0011096
14 cns demyelination 32 HP:0007305

UMLS symptoms related to Abetalipoproteinemia:


ataxia

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

26
id 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 APOE LPL APOA1

MGI Mouse Phenotypes related to Abetalipoproteinemia:

44 (showing 4, show less)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.96 APOA1 APOB APOE HADHA HADHB IGF1
2 homeostasis/metabolism MP:0005376 9.85 TTPA APOA1 APOB APOE HADHA HADHB
3 liver/biliary system MP:0005370 9.56 LPL MTTP APOA1 APOB APOE HADHA
4 muscle MP:0005369 9.17 APOB APOE HADHA HADHB IGF1 LPL

Drugs & Therapeutics for Abetalipoproteinemia

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

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

Interventional clinical trials:

(showing 4, show less)

id 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:

id Genetic test Affiliating Genes
1 Abetalipoproteinemia 29 24 MTTP
2 Acanthocytosis 29

Anatomical Context for Abetalipoproteinemia

MalaCards organs/tissues related to Abetalipoproteinemia:

39
Eye, Liver, Brain, Skeletal Muscle, Spinal Cord

Publications for Abetalipoproteinemia

Articles related to Abetalipoproteinemia:

(showing 169, show less)
id Title Authors Year
1
A tale of 2 cousins: An atypical and a typical case of abetalipoproteinemia. ( 27578136 )
2016
2
Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects. ( 27487388 )
2016
3
Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal I^-Barrel in Microsomal Triglyceride Transfer Protein Function. ( 26224785 )
2015
4
Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia. ( 25763510 )
2015
5
Fat accumulation in enterocytes: a key to the diagnosis of abetalipoproteinemia or homozygous hypobetalipoproteinemia. ( 26062159 )
2015
6
A Male Infant with Abetalipoproteinemia: A Case Report from Iran. ( 26396722 )
2015
7
Macular atrophy in a case of abetalipoproteinemia as only ocular clinical feature. ( 26040232 )
2015
8
Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia. ( 26086616 )
2015
9
Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia. ( 24139731 )
2014
10
A successful spontaneous pregnancy in abetalipoproteinemia: Amsterdam or the art of vitamin replacement? ( 25488886 )
2014
11
Clinical, hematological, and imaging observations in a 25-year-old woman with abetalipoproteinemia. ( 24753676 )
2014
12
Hypobetalipoproteinemia and abetalipoproteinemia. ( 24751931 )
2014
13
Novel missense MTTP gene mutations causing abetalipoproteinemia. ( 25108285 )
2014
14
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia. ( 23043934 )
2013
15
Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. ( 24288038 )
2013
16
Inhibitory effects of in vivo oxidized high-density lipoproteins on platelet aggregation: evidence from patients with abetalipoproteinemia. ( 23507868 )
2013
17
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia. ( 23475612 )
2013
18
Knee pain: an unanticipated finding related to a rare genetic disorder--abetalipoproteinemia. ( 24170593 )
2013
19
Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene. ( 23556456 )
2013
20
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia. ( 22236406 )
2012
21
Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia. ( 22150066 )
2012
22
Ataxia with vitamin E deficiency and abetalipoproteinemia. ( 21827896 )
2012
23
Deep brain stimulation for the treatment of tremor and ataxia associated with abetalipoproteinemia. ( 23440258 )
2012
24
Chronic adrenal failure and hypergonadotropic hypogonadism in a patient with abetalipoproteinemia. ( 23090820 )
2012
25
Red cells in abetalipoproteinemia. ( 21534356 )
2011
26
Rickets and dysmorphic findings in a child with abetalipoproteinemia. ( 21484009 )
2011
27
Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia. ( 21502686 )
2011
28
Disc swelling in abetalipoproteinemia: a novel feature of Bassen-Kornzweig syndrome. ( 21484752 )
2011
29
A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP). ( 21394827 )
2011
30
Abetalipoproteinemia in a Saudi infant. ( 21333248 )
2011
31
Rickets and dysmorphic findings in a child with abetalipoproteinemia. ( 20953537 )
2010
32
Abetalipoproteinemia in an infant with severe clinical phenotype and a novel mutation. ( 20402070 )
2010
33
Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function. ( 20592474 )
2010
34
Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia. ( 19056372 )
2009
35
Morphological diagnosis of abetalipoproteinemia and the importance of a freshly prepared peripheral smear. ( 19552676 )
2009
36
Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases. ( 19066957 )
2009
37
Abetalipoproteinemia: two case reports and literature review. ( 18611256 )
2008
38
Abetalipoproteinemia complicating the puerperium. ( 18239027 )
2008
39
Abetalipoproteinemia. ( 18367944 )
2008
40
Maternal abetalipoproteinemia resulting in multiple fetal anomalies. ( 18784430 )
2008
41
Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient. ( 17275380 )
2007
42
Abetalipoproteinemia induced by overexpression of ORP150 in mice. ( 17605339 )
2007
43
Fat-soluble vitamin deficiency in pregnancy: a case report and review of abetalipoproteinemia. ( 17022912 )
2006
44
Autopsy case of Dubin-Johnson syndrome with pneumonia and abetalipoproteinemia-like lipid profile. ( 16835471 )
2006
45
Abetalipoproteinemia: importance of the peripheral blood smear. ( 15765527 )
2005
46
Endocrine function in abetalipoproteinemia: a study of a female patient of Greek origin. ( 15960365 )
2004
47
The c.419-420insA in the MTP gene is associated with abetalipoproteinemia among French-Canadians. ( 14741197 )
2004
48
Oxidative stress in abetalipoproteinemia patients receiving long-term vitamin E and vitamin A supplementation. ( 14749227 )
2004
49
Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia. ( 12630961 )
2003
50
Abetalipoproteinemia-like lipid profile and acanthocytosis in a young woman with anorexia nervosa. ( 12449451 )
2002
51
Apolipoprotein B48 glycosylation in abetalipoproteinemia and Anderson's disease. ( 11677202 )
2001
52
Rickets as an unusual initial presentation of abetalipoproteinemia and hypobetalipoproteinemia. ( 11308051 )
2001
53
Clinical quiz. Abetalipoproteinemia. ( 11345181 )
2001
54
Abetalipoproteinemia: a case report. ( 11592517 )
2001
55
The role of the microsomal triglygeride transfer protein in abetalipoproteinemia. ( 10940349 )
2000
56
[Microsomal triglyceride transfer protein and abetalipoproteinemia]. ( 10891663 )
2000
57
Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia. ( 10946006 )
2000
58
Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia. ( 10679949 )
2000
59
Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene. ( 10446076 )
1999
60
Liver-specific inactivation of the abetalipoproteinemia gene completely abrogates very low density lipoprotein/low density lipoprotein production in a viable conditional knockout mouse. ( 10037685 )
1999
61
Knockout of the abetalipoproteinemia gene in mice: reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes. ( 9671739 )
1998
62
Helicoid peripapillary chorioretinal degeneration in abetalipoproteinemia. ( 9488285 )
1998
63
Pathological case of the month. Abetalipoproteinemia (Bassen-Kornzweig syndrome). ( 9412607 )
1997
64
A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase. ( 8939939 )
1996
65
Translocation of apolipoprotein B across the endoplasmic reticulum is blocked in abetalipoproteinemia. ( 8808765 )
1996
66
Abetalipoproteinemia in an Indian family. ( 10830000 )
1996
67
Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. ( 8533758 )
1995
68
Lipoproteins containing apolipoprotein B isolated from patients with abetalipoproteinemia and homozygous hypobetalipoproteinemia: identification and characterization. ( 8770313 )
1995
69
A 30-amino acid truncation of the microsomal triglyceride transfer protein large subunit disrupts its interaction with protein disulfide-isomerase and causes abetalipoproteinemia. ( 7782284 )
1995
70
Abetalipoproteinemia presenting with congestive cardiac failure. ( 7896372 )
1994
71
In vivo metabolism of apolipoproteins A-I and E in patients with abetalipoproteinemia: implications for the roles of apolipoproteins B and E in HDL metabolism. ( 7852858 )
1994
72
Angioid streaks associated with abetalipoproteinemia. ( 7749670 )
1994
73
The molecular basis of abetalipoproteinemia. ( 8044420 )
1994
74
Discrimination between RRR- and all-racemic-alpha-tocopherols labeled with deuterium by patients with abetalipoproteinemia. ( 7980705 )
1994
75
The abetalipoproteinemia gene is a member of the vitellogenin family and encodes an alpha-helical domain. ( 7664034 )
1994
76
Microsomal triglyceride transfer protein, the abetalipoproteinemia gene product, mediates the secretion of apolipoprotein B-containing lipoproteins from heterologous cells. ( 8071315 )
1994
77
Characterization of serum lipoproteins from Suncus: a candidate animal model for abetalipoproteinemia. ( 8370676 )
1993
78
Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein. ( 8111381 )
1993
79
Histochemical and ultrastructural pathology of skeletal muscle in a patient with abetalipoproteinemia. ( 8310805 )
1993
80
Is microsomal triglyceride transfer protein the missing link in abetalipoproteinemia? ( 8340078 )
1993
81
Abetalipoproteinemia. New insights into lipoprotein assembly and vitamin E metabolism from a rare genetic disease. ( 8340987 )
1993
82
Genetic exclusion of apo-B gene in recessive abetalipoproteinemia. ( 8422264 )
1993
83
Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. ( 1439810 )
1992
84
Genetic analysis of a Japanese family with normotriglyceridemic abetalipoproteinemia indicates a lack of linkage to the apolipoprotein B gene. ( 1731805 )
1992
85
Abnormal platelet functions in a patient with abetalipoproteinemia. ( 1904656 )
1991
86
Molecular and metabolic basis for the metabolic disorder normotriglyceridemic abetalipoproteinemia. ( 1939657 )
1991
87
Intestinal and hepatic apolipoprotein B gene expression in abetalipoproteinemia. ( 2065927 )
1991
88
Description of two different patients with abetalipoproteinemia: synthesis of a normal-sized apolipoprotein B-48 in intestinal organ culture. ( 2179443 )
1990
89
Abetalipoproteinemia with an ApoB-100-lipoprotein(a) glycoprotein complex in plasma. Indication for an assembly defect. ( 2295628 )
1990
90
Molecular species of cholesteryl esters formed in abetalipoproteinemia: effect of apoprotein B-containing lipoproteins. ( 2380639 )
1990
91
Exclusion of linkage between the human apolipoprotein B gene and abetalipoproteinemia. ( 2339706 )
1990
92
Increased urinary mevalonic acid excretion in patients with abetalipoproteinemia and homozygous hypobetalipoproteinemia. ( 2920062 )
1989
93
Hepatic peroxisomal abnormalities in abetalipoproteinemia. ( 2753336 )
1989
94
Molecular species of phosphatidylcholine in abetalipoproteinemia: effect of lecithin:cholesterol acyltransferase and lysolecithin acyltransferase. ( 2621418 )
1989
95
Angioid streaks associated with abetalipoproteinemia. ( 2787138 )
1989
96
Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia. ( 2903181 )
1988
97
Abetalipoproteinemia or Bassen-Kornzweig syndrome. Clinical, biochemical and electrophysiological features of two cases. ( 3206997 )
1988
98
Neutral lipid transfer activities in the plasma of patients with abetalipoproteinemia. ( 3377877 )
1988
99
In vivo evidence for cholesterol ester and triglyceride exchange between high density lipoprotein and infused triglyceride rich particles in abetalipoproteinemia. ( 3223418 )
1988
100
Substrate specificity of plasma lecithin: cholesterol acyltransferase in abetalipoproteinemia. ( 3421144 )
1988
101
Angioid streaks associated with abetalipoproteinemia. Case report. ( 3632434 )
1987
102
The influence of plasma lipoproteins from patients with abetalipoproteinemia on cellular cholesterol esterification. ( 3689473 )
1987
103
Confusing reporting in abetalipoproteinemia. ( 3631927 )
1987
104
Absence of intestinal synthesis of apolipoprotein B-48 in two cases of abetalipoproteinemia. ( 3653634 )
1987
105
Abetalipoproteinemia associated with hepatic and atypical neurological disorders. ( 3694376 )
1987
106
Vitamin E deficiency in neuropathy of abetalipoproteinemia. ( 3012411 )
1986
107
Analysis of the apolipoprotein B gene and messenger ribonucleic acid in abetalipoproteinemia. ( 3782476 )
1986
108
Electrophysiologic features of abetalipoproteinemia: functional consequences of vitamin E deficiency. ( 3010179 )
1986
109
Epitopes of apolipoprotein B-100 and B-48 in both liver and intestine. Expression and evidence for local synthesis in recessive abetalipoproteinemia. ( 2429992 )
1986
110
Abetalipoproteinemia. A case report. ( 3832509 )
1985
111
Platelet function in a case with abetalipoproteinemia. ( 4084361 )
1985
112
Normotriglyceridemic abetalipoproteinemia in infancy: an isolated apolipoprotein B-100 deficiency. ( 3975124 )
1985
113
Peripheral neuropathy in abetalipoproteinemia. ( 2991816 )
1985
114
Primary aberrant regeneration of the oculomotor nerve. Occurrence in a patient with abetalipoproteinemia. ( 4026621 )
1985
115
Somatosensory evoked potentials in abetalipoproteinemia. ( 2578350 )
1985
116
Arrest of neuropathy and myopathy in abetalipoproteinemia with high-dose vitamin E therapy. ( 2981135 )
1985
117
Abetalipoproteinemia and metastatic spinal cord glioblastoma. ( 6326713 )
1984
118
Electrophysiological studies in five cases of abetalipoproteinemia. ( 6704795 )
1984
119
Ocular abnormalities in abetalipoproteinemia. A clinicopathologic correlation. ( 6493710 )
1984
120
Abetalipoproteinemia. Report of an unusual patient. ( 6472810 )
1984
121
Morphologic features of the liver in abetalipoproteinemia. ( 6500514 )
1984
122
Vitamin A and vitamin E replacement in abetalipoproteinemia. ( 6691669 )
1984
123
Alterations in erythrocyte membrane lipids in abetalipoproteinemia: phospholipid and fatty acyl composition. ( 6497872 )
1984
124
Lipoprotein lipase and hepatic lipase activity after heparin administration in abetalipoproteinemia and hypobetalipoproteinemia. ( 6888269 )
1983
125
Cholesterol turnover and metabolism in two patients with abetalipoproteinemia. ( 6668452 )
1983
126
Regulation of cholesterol synthesis by plasma lipoproteins from patients with abetalipoproteinemia. ( 6318779 )
1983
127
Regulation of low density lipoprotein receptors by plasma lipoproteins from patients with abetalipoproteinemia. ( 6304711 )
1983
128
A case report of abetalipoproteinemia (Bassen-Kornzweig syndrome)--the first case in Japan. ( 6620711 )
1983
129
Role of apolipoprotein E-containing lipoproteins in abetalipoproteinemia. ( 6294137 )
1982
130
Abnormal high density lipoproteins of abetalipoproteinemia: relevance to normal HDL metabolism. ( 7161557 )
1982
131
Hormone changes during the menstrual cycle in abetalipoproteinemia: reduced luteal phase progesterone in a patient with homozygous hypobetalipoproteinemia. ( 6959145 )
1982
132
Corticosteroid production in abetalipoproteinemia: evidence for an impaired response ACTH. ( 6283000 )
1982
133
Effect of large oral doses of vitamin E on the neurological sequelae of patients with abetalipoproteinemia. ( 6959555 )
1982
134
Abetalipoproteinemia-a case report. ( 6973052 )
1981
135
Normotriglyceridemic abetalipoproteinemia. absence of the B-100 apolipoprotein. ( 7229035 )
1981
136
Importance of cholesterol-phospholipid interaction in determining dynamics of normal and abetalipoproteinemia red blood cell membrane. ( 6168375 )
1981
137
Lipid metabolism in abetalipoproteinemia: a study of cholesterol absorption and sterol balance in two patients. ( 7350037 )
1980
138
Abetalipoproteinemia. Report of two cases and review of therapy. ( 7425890 )
1980
139
Impaired cortisol secretion in abetalipoproteinemia. ( 6246140 )
1980
140
The neuropathy of abetalipoproteinemia. ( 6153056 )
1980
141
Abetalipoproteinemia presenting as severe vitamin K deficiency. ( 7355018 )
1980
142
Is essential fatty acid deficiency part of the syndrome of abetalipoproteinemia? ( 7422151 )
1980
143
Immunofluorescence studies of apolipoprotein B in intestinal mucosa. Absence in abetalipoproteinemia. ( 365664 )
1979
144
Sterol balance in abetalipoproteinemia: studies in a patient with homozygous familial hypobetalipoproteinemia. ( 491973 )
1979
145
Endoscopic assessment in abetalipoproteinemia (Bassen-Kornzweig-syndrome). ( 631097 )
1978
146
Abetalipoproteinemia and hypobetalipoproteinemia: what is the primary defect? ( 735924 )
1978
147
Abetalipoproteinemia treated with parenteral and oral vitamins A and E, and with medium chain triglycerides. ( 716878 )
1978
148
Abetalipoproteinemia (Bassen-Kornzweig syndrome). Muscle involvement. ( 855647 )
1977
149
Regulation of cholesterol synthesis by low density lipoprotein in isolated human lymphocytes. Comparison of cells from normal subjects and patients with homozygous familial hypercholesterolemia and abetalipoproteinemia. ( 194011 )
1977
150
Decreased fluidity of red cell membrane lipids in abetalipoproteinemia. ( 874076 )
1977
151
Abetalipoproteinemia and the eye. ( 782598 )
1976
152
The genetic relationship of abetalipoproteinemia and hypobetalipoproteinemia: a report of the occurence of both diseases within the same family. ( 164511 )
1975
153
A study of the abnormal lipoproteins in abetalipoproteinemia. ( 11344558 )
1974
154
Liver ultrastructure in abetalipoproteinemia: Evolution of micronodular cirrhosis. ( 4135110 )
1974
155
Abetalipoproteinemia. ( 4719023 )
1973
156
Studies on the sedimentation rate and membrane permeability of acanthocytes in abetalipoproteinemia. ( 4785306 )
1973
157
Abetalipoproteinemia. ( 4345524 )
1972
158
Retinitis pigmentosa in abetalipoproteinemia: Effects of vitamin A. ( 5124019 )
1971
159
The relationship between serum lipoproteins and red cell membranes in abetalipoproteinemia: deficiency of lecithin:cholesterol acyltransferase. ( 5092855 )
1971
160
Abetalipoproteinemia: metabolic, endocrine, and electron-microscopic investigations. ( 5561886 )
1971
161
Abetalipoproteinemia in acrodermatitis enteropathica. ( 4995946 )
1971
162
Abetalipoproteinemia: rarity and relevance. ( 5549807 )
1971
163
On the protein defect in abetalipoproteinemia. ( 5549803 )
1971
164
Fat transport in abetalipoproteinemia. The effects of repeated infusions of beta-lipoprotein-rich plasma. ( 4976946 )
1969
165
Phospholipid and phospholipid fatty acid and aldehyde composition of red cells of patients with abetalipoproteinemia (acanthocytosis). Evidence for essential fatty acid deficiency in man. ( 5651363 )
1968
166
Studies on the absorptive defect for triglyceride in abetalipoproteinemia. ( 6018748 )
1967
167
Abnormalities of high density lipoproteins in abetalipoproteinemia. ( 6027078 )
1967
168
Peroxidative hemolysis of red blood cells from patients with abetalipoproteinemia (acanthocytosis). ( 6023771 )
1967
169
The lipoproteins and lipid transport in abetalipoproteinemia. ( 4957009 )
1966

Variations for Abetalipoproteinemia

UniProtKB/Swiss-Prot genetic disease variations for Abetalipoproteinemia:

71 (showing 8, show less)
id Symbol AA change Variation ID SNP ID
1 MTTP p.Arg540His VAR_010642 rs199422220
2 MTTP p.Ser590Ile VAR_010643 rs199422222
3 MTTP p.Gly746Glu VAR_010644 rs767833468
4 MTTP p.Asn780Tyr VAR_014019 rs199422221
5 MTTP p.Asp169Val VAR_074553
6 MTTP p.Leu435His VAR_074555
7 MTTP p.Tyr528His VAR_074556
8 MTTP p.Arg540Cys VAR_074557 rs372321643

ClinVar genetic disease variations for Abetalipoproteinemia:

6 (showing 27, show less)
id 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

Expression for Abetalipoproteinemia

Search GEO for disease gene expression data for Abetalipoproteinemia.

Pathways for Abetalipoproteinemia

Pathways related to Abetalipoproteinemia according to GeneCards Suite gene sharing:

(showing 12, show less)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.73 APOA1 APOB APOE CETP HADHA HADHB
2
Show member pathways
12.4 APOA1 APOB APOE LPL
3
Show member pathways
12.09 APOA1 APOB APOE CETP LCAT LPL
4
Show member pathways
12 APOA1 APOB APOE LPL
5
Show member pathways
11.67 APOA1 APOB APOE
6 11.59 BGLAP IGF1 LPL
7
Show member pathways
11.22 HADHA HADHB LPL
8 11.09 APOE BGLAP IGF1
9
Show member pathways
11 APOA1 APOB APOE CETP LCAT LPL
10
Show member pathways
10.98 APOA1 APOB MTTP
11 10.89 APOA1 APOB
12 10.57 HADHA HADHB

GO Terms for Abetalipoproteinemia

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

(showing 13, show less)
id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.8 APOA1 APOB APOE BGLAP MTTP P4HB
2 extracellular matrix GO:0031012 9.73 APOE HADHA LPL P4HB
3 vesicle GO:0031982 9.7 BGLAP CETP MTTP
4 endocytic vesicle lumen GO:0071682 9.58 APOA1 APOB APOE
5 low-density lipoprotein particle GO:0034362 9.54 APOA1 APOB APOE
6 high-density lipoprotein particle GO:0034364 9.46 APOA1 APOE CETP LCAT
7 intermediate-density lipoprotein particle GO:0034363 9.43 APOA1 APOB APOE
8 very-low-density lipoprotein particle GO:0034361 9.26 APOA1 APOB APOE LPL
9 discoidal high-density lipoprotein particle GO:0034365 9.18 APOA1
10 chylomicron GO:0042627 8.92 APOA1 APOB APOE LPL
11 extracellular exosome GO:0070062 10.11 APOA1 APOB APOE CETP HADHB LCAT
12 extracellular region GO:0005576 10.11 APOA1 APOB APOE BGLAP CETP IGF1
13 extracellular space GO:0005615 10.1 APOA1 APOB APOE BGLAP CETP IGF1

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

(showing 45, show less)
id Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.99 APOA1 APOB APOE P4HB
2 cellular protein metabolic process GO:0044267 9.99 APOA1 APOB APOE IGF1 P4HB
3 response to drug GO:0042493 9.98 APOA1 BGLAP HADHA LPL
4 lipid transport GO:0006869 9.96 APOA1 APOB APOE CETP MTTP
5 steroid metabolic process GO:0008202 9.93 APOA1 APOB APOE CETP LCAT
6 cholesterol metabolic process GO:0008203 9.91 APOA1 APOB APOE CETP LCAT
7 retinoid metabolic process GO:0001523 9.88 APOA1 APOB APOE LPL
8 triglyceride metabolic process GO:0006641 9.85 APOE CETP LPL MTTP
9 triglyceride homeostasis GO:0070328 9.83 APOA1 APOE CETP LPL
10 phospholipid metabolic process GO:0006644 9.82 APOA1 LCAT LPL
11 triglyceride catabolic process GO:0019433 9.8 APOA1 APOB APOE LPL
12 phospholipid transport GO:0015914 9.78 APOA1 CETP MTTP
13 cholesterol transport GO:0030301 9.78 APOA1 APOB CETP LCAT
14 cholesterol efflux GO:0033344 9.77 APOA1 APOB APOE
15 low-density lipoprotein particle remodeling GO:0034374 9.76 APOB APOE CETP
16 lipoprotein metabolic process GO:0042157 9.76 APOA1 APOB APOE MTTP
17 very-low-density lipoprotein particle assembly GO:0034379 9.74 APOB MTTP P4HB
18 reverse cholesterol transport GO:0043691 9.73 APOA1 APOE CETP LCAT
19 high-density lipoprotein particle remodeling GO:0034375 9.71 APOA1 APOE CETP LCAT
20 lipid homeostasis GO:0055088 9.7 APOE CETP
21 ERK1 and ERK2 cascade GO:0070371 9.69 APOA1 IGF1
22 artery morphogenesis GO:0048844 9.69 APOB APOE
23 lipoprotein transport GO:0042953 9.69 APOB MTTP
24 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.68 APOB LPL
25 high-density lipoprotein particle assembly GO:0034380 9.68 APOA1 APOE
26 phospholipid efflux GO:0033700 9.67 APOA1 APOE
27 phosphatidylcholine metabolic process GO:0046470 9.67 CETP LCAT
28 phospholipid homeostasis GO:0055091 9.67 APOA1 CETP
29 chylomicron remodeling GO:0034371 9.67 APOA1 APOB APOE LPL
30 positive regulation of cholesterol esterification GO:0010873 9.66 APOA1 APOE
31 high-density lipoprotein particle clearance GO:0034384 9.66 APOA1 APOE
32 chylomicron remnant clearance GO:0034382 9.65 APOB APOE
33 neuron projection regeneration GO:0031102 9.65 APOA1 APOE
34 lipid metabolic process GO:0006629 9.65 APOA1 APOB APOE CETP HADHA HADHB
35 regulation of Cdc42 protein signal transduction GO:0032489 9.64 APOA1 APOE
36 positive regulation of cholesterol storage GO:0010886 9.64 APOB LPL
37 cardiolipin acyl-chain remodeling GO:0035965 9.63 HADHA HADHB
38 very-low-density lipoprotein particle clearance GO:0034447 9.63 APOB APOE
39 triglyceride transport GO:0034197 9.62 CETP MTTP
40 vitamin transport GO:0051180 9.62 APOA1 TTPA
41 very-low-density lipoprotein particle remodeling GO:0034372 9.62 APOE CETP LCAT LPL
42 lipoprotein catabolic process GO:0042159 9.61 APOB APOE
43 lipoprotein biosynthetic process GO:0042158 9.56 APOA1 APOB APOE LCAT
44 chylomicron assembly GO:0034378 9.55 APOA1 APOB APOE MTTP P4HB
45 cholesterol homeostasis GO:0042632 9.17 APOA1 APOB APOE CETP LCAT LPL

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

(showing 17, show less)
id Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.74 APOB APOE LPL
2 phospholipid binding GO:0005543 9.7 APOA1 APOB APOE
3 lipid binding GO:0008289 9.63 APOA1 APOB APOE CETP MTTP TTPA
4 cholesterol binding GO:0015485 9.58 APOA1 APOE CETP
5 phosphatidylcholine binding GO:0031210 9.56 APOA1 CETP
6 low-density lipoprotein particle receptor binding GO:0050750 9.55 APOB APOE
7 apolipoprotein binding GO:0034185 9.54 LPL MTTP
8 enoyl-CoA hydratase activity GO:0004300 9.51 HADHA HADHB
9 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.49 HADHA HADHB
10 lipoprotein particle binding GO:0071813 9.48 APOA1 APOE
11 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.46 APOA1 APOE
12 acetyl-CoA C-acyltransferase activity GO:0003988 9.43 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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