ABL
MCID: ABT001
MIFTS: 60

Abetalipoproteinemia (ABL) malady

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

Aliases & Classifications for Abetalipoproteinemia

Aliases & Descriptions for Abetalipoproteinemia:

Name: Abetalipoproteinemia 54 12 50 24 25 56 66 29 13 52 42 14 69
Familial Hypobetalipoproteinemia 12 50 25 69
Acanthocytosis 25 66 29 69
Microsomal Triglyceride Transfer Protein Deficiency Disease 12 50 25
Abetalipoproteinemia Neuropathy 50 25 69
Abl 50 24 66
Microsomal Triglyceride Transfer Protein Deficiency 50 66
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 66
Bassen-Kornzweig Disease 50 56
Mtp Deficiency 50 66
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;

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 choreoacanthocytosis and harp syndrome, and has symptoms including ataxia, muscular hypotonia and malabsorption. An important gene associated with Abetalipoproteinemia is MTTP (Microsomal Triglyceride Transfer Protein), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Vitamin E and Tocopherols 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... (200100) more...

UniProtKB/Swiss-Prot : 66 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 : 71 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:

(show top 50) (show all 95)
id Related Disease Score Top Affiliating Genes
1 choreoacanthocytosis 12.0
2 harp syndrome 11.7
3 atypical chronic myeloid leukemia 11.6
4 hypobetalipoproteinemia 11.3
5 leukemia, chronic myeloid, somatic 11.3
6 trifunctional protein deficiency 10.8
7 rhabdomyosarcoma 10.8
8 chronic neutrophilic leukemia 10.8
9 hypolipoproteinemia 10.8
10 hypobetalipoproteinemia, familial, 2 10.8
11 pseudocholinesterase deficiency 10.7
12 leukemia 10.7
13 spinal muscular atrophy-1 10.6
14 spinal muscular atrophy-3 10.6
15 spinal muscular atrophy 10.6
16 hartnup disorder 10.6
17 zap-70 deficiency 10.3 APOB APOE
18 keratoconus 4 10.3 APOB APOE
19 alport syndrome and thin basement membrane nephropathy 10.3 APOE LPL
20 arena syndrome 10.3 APOA1 LCAT
21 lipoprotein glomerulopathy 10.2 APOE LCAT
22 tyrosinemia, type ii 10.2 APOA1 LCAT
23 c1s deficiency 10.2 APOE LPL
24 pars planitis 10.2 APOA1 APOE
25 dentinogenesis imperfecta type 2 10.2 APOB APOE LCAT
26 alzheimer disease 19, late onset 10.2 APOB APOE LCAT
27 cataract 20, multiple types 10.2 APOB LPL MTTP
28 severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome 10.2 APOB APOE LPL
29 albinism, oculocutaneous, type v 10.2 APOA1 APOB APOE
30 familial progressive cardiac conduction defect 10.2 APOA1 APOE LCAT
31 branchiootorenal syndrome 1, with or without cataracts 10.2 APOB TTPA
32 primary pigmented nodular adrenocortical disease 10.2 APOA1 APOB APOE
33 optic nerve neoplasm 10.1 APOA1 APOB APOE
34 hyperchlorhidrosis, isolated 10.1 APOA1 APOE LPL
35 dyserythropoietic anemia, congenital, type ii 10.1 APOA1 APOE LCAT
36 myxofibrosarcoma 10.1 APOE LPL
37 cervix small cell carcinoma 10.1 APOA1 APOB APOE
38 immune-mediated encephalomyelitis 10.1 APOE PRL
39 myelophthisic anemia 10.1 APOA1 APOB APOE
40 dacryoadenitis 10.1 IGF1 PRL
41 central nervous system disease 10.1
42 nervous system disease 10.1
43 joint disorders 10.1 APOA1 APOB APOE LPL
44 bleeding disorder, east texas type 10.0 APOA1 APOB APOE LPL
45 gait apraxia 10.0 APOA1 APOB APOE CETP
46 pericarditis 10.0 APOA1 APOB APOE LPL
47 fetal warfarin syndrome 10.0 APOA1 APOB IGF1 LCAT
48 mitochondrial complex iii deficiency, nuclear type 4 10.0 APOA1 APOB MTTP SAR1B
49 pituitary adenoma, acth-secreting 10.0 IGF1 PRL
50 thymus adenosquamous carcinoma 9.9 APOA1 IGF1 LCAT

Graphical network of the top 20 diseases related to Abetalipoproteinemia:



Diseases related to Abetalipoproteinemia

Symptoms & Phenotypes for Abetalipoproteinemia

Symptoms by clinical synopsis from OMIM:

200100

Clinical features from OMIM:

200100

Human phenotypes related to Abetalipoproteinemia:

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

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 APOA1 APOE LPL

MGI Mouse Phenotypes related to Abetalipoproteinemia:

44
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 9.93 APOA1 APOB APOE HADHA HADHB IGF1
3 liver/biliary system MP:0005370 9.61 APOA1 APOB APOE HADHA HADHB LCAT
4 muscle MP:0005369 9.17 TTPA APOB APOE HADHA HADHB IGF1

Drugs & Therapeutics for Abetalipoproteinemia

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

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

Interventional clinical trials:


id Name Status NCT ID Phase
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:

(show top 50) (show all 169)
id Title Authors Year
1
Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects. ( 27487388 )
2016
2
A tale of 2 cousins: An atypical and a typical case of abetalipoproteinemia. ( 27578136 )
2016
3
Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia. ( 26086616 )
2015
4
A Male Infant with Abetalipoproteinemia: A Case Report from Iran. ( 26396722 )
2015
5
Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal I^-Barrel in Microsomal Triglyceride Transfer Protein Function. ( 26224785 )
2015
6
Fat accumulation in enterocytes: a key to the diagnosis of abetalipoproteinemia or homozygous hypobetalipoproteinemia. ( 26062159 )
2015
7
Macular atrophy in a case of abetalipoproteinemia as only ocular clinical feature. ( 26040232 )
2015
8
Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia. ( 25763510 )
2015
9
Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia. ( 24139731 )
2014
10
Clinical, hematological, and imaging observations in a 25-year-old woman with abetalipoproteinemia. ( 24753676 )
2014
11
A successful spontaneous pregnancy in abetalipoproteinemia: Amsterdam or the art of vitamin replacement? ( 25488886 )
2014
12
Novel missense MTTP gene mutations causing abetalipoproteinemia. ( 25108285 )
2014
13
Hypobetalipoproteinemia and abetalipoproteinemia. ( 24751931 )
2014
14
Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. ( 24288038 )
2013
15
Knee pain: an unanticipated finding related to a rare genetic disorder--abetalipoproteinemia. ( 24170593 )
2013
16
Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene. ( 23556456 )
2013
17
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia. ( 23475612 )
2013
18
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia. ( 23043934 )
2013
19
Inhibitory effects of in vivo oxidized high-density lipoproteins on platelet aggregation: evidence from patients with abetalipoproteinemia. ( 23507868 )
2013
20
Chronic adrenal failure and hypergonadotropic hypogonadism in a patient with abetalipoproteinemia. ( 23090820 )
2012
21
Deep brain stimulation for the treatment of tremor and ataxia associated with abetalipoproteinemia. ( 23440258 )
2012
22
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia. ( 22236406 )
2012
23
Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia. ( 22150066 )
2012
24
Ataxia with vitamin E deficiency and abetalipoproteinemia. ( 21827896 )
2012
25
Red cells in abetalipoproteinemia. ( 21534356 )
2011
26
Rickets and dysmorphic findings in a child with abetalipoproteinemia. ( 21484009 )
2011
27
Abetalipoproteinemia in a Saudi infant. ( 21333248 )
2011
28
Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia. ( 21502686 )
2011
29
A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP). ( 21394827 )
2011
30
Disc swelling in abetalipoproteinemia: a novel feature of Bassen-Kornzweig syndrome. ( 21484752 )
2011
31
Rickets and dysmorphic findings in a child with abetalipoproteinemia. ( 20953537 )
2010
32
Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function. ( 20592474 )
2010
33
Abetalipoproteinemia in an infant with severe clinical phenotype and a novel mutation. ( 20402070 )
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
Maternal abetalipoproteinemia resulting in multiple fetal anomalies. ( 18784430 )
2008
39
Abetalipoproteinemia complicating the puerperium. ( 18239027 )
2008
40
Abetalipoproteinemia. ( 18367944 )
2008
41
Abetalipoproteinemia induced by overexpression of ORP150 in mice. ( 17605339 )
2007
42
Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient. ( 17275380 )
2007
43
Autopsy case of Dubin-Johnson syndrome with pneumonia and abetalipoproteinemia-like lipid profile. ( 16835471 )
2006
44
Fat-soluble vitamin deficiency in pregnancy: a case report and review of abetalipoproteinemia. ( 17022912 )
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
Oxidative stress in abetalipoproteinemia patients receiving long-term vitamin E and vitamin A supplementation. ( 14749227 )
2004
48
The c.419-420insA in the MTP gene is associated with abetalipoproteinemia among French-Canadians. ( 14741197 )
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

Variations for Abetalipoproteinemia

UniProtKB/Swiss-Prot genetic disease variations for Abetalipoproteinemia:

66
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 (show all 25)
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

Expression for Abetalipoproteinemia

Search GEO for disease gene expression data for Abetalipoproteinemia.

Pathways for Abetalipoproteinemia

Pathways related to Abetalipoproteinemia according to GeneCards Suite gene sharing:

(show all 11)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.53 APOA1 APOB APOE CETP HADHA HADHB
2
Show member pathways
12.39 APOA1 APOB APOE LPL
3
Show member pathways
12.14 APOA1 APOB APOE CETP LCAT LPL
4
Show member pathways
12 APOA1 APOB APOE LPL
5
Show member pathways
11.65 APOA1 APOB APOE
6
Show member pathways
11.22 HADHA HADHB LPL
7
Show member pathways
11.08 APOA1 APOB MTTP
8
Show member pathways
11 APOA1 APOB APOE CETP LCAT LPL
9 10.87 APOA1 APOB
10 10.55 HADHA HADHB
11
Show member pathways
10.4 HADHA HADHB

GO Terms for Abetalipoproteinemia

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.8 APOA1 APOB APOE MTTP P4HB
2 extracellular matrix GO:0031012 9.78 APOE HADHA LPL P4HB
3 endocytic vesicle lumen GO:0071682 9.54 APOA1 APOB APOE
4 low-density lipoprotein particle GO:0034362 9.5 APOA1 APOB APOE
5 endosome lumen GO:0031904 9.49 APOB PRL
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 chylomicron GO:0042627 8.92 APOA1 APOB APOE LPL
10 extracellular exosome GO:0070062 10.11 APOA1 APOB APOE CETP HADHB LCAT
11 extracellular region GO:0005576 10.09 APOA1 APOB APOE CETP IGF1 LCAT
12 endoplasmic reticulum GO:0005783 10 APOB APOE HADHB MTTP P4HB SAR1B
13 extracellular space GO:0005615 10 APOA1 APOB APOE CETP IGF1 LCAT

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

(show all 49)
id Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.99 APOA1 HADHA LPL PRL
2 lipid transport GO:0006869 9.97 APOA1 APOB APOE CETP MTTP
3 steroid metabolic process GO:0008202 9.95 APOA1 APOB APOE CETP LCAT
4 receptor-mediated endocytosis GO:0006898 9.94 APOA1 APOB APOE CETP
5 cholesterol metabolic process GO:0008203 9.89 APOA1 APOB APOE CETP LCAT
6 retinoid metabolic process GO:0001523 9.88 APOA1 APOB APOE LPL
7 triglyceride metabolic process GO:0006641 9.86 APOE CETP LPL MTTP
8 response to nutrient GO:0007584 9.85 APOA1 PRL TTPA
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 9.81 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 9.77 APOB APOE CETP
16 reverse cholesterol transport GO:0043691 9.76 APOA1 APOE CETP LCAT
17 very-low-density lipoprotein particle assembly GO:0034379 9.75 APOB MTTP P4HB
18 high-density lipoprotein particle remodeling GO:0034375 9.73 APOA1 APOE CETP LCAT
19 regulation of multicellular organism growth GO:0040014 9.71 IGF1 PRL
20 chylomicron remodeling GO:0034371 9.71 APOA1 APOB APOE LPL
21 ERK1 and ERK2 cascade GO:0070371 9.7 APOA1 IGF1
22 lipid homeostasis GO:0055088 9.7 APOE CETP
23 artery morphogenesis GO:0048844 9.7 APOB APOE
24 cholesterol homeostasis GO:0042632 9.7 APOA1 APOB APOE CETP LCAT LPL
25 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.69 APOB LPL
26 lipoprotein transport GO:0042953 9.69 APOB MTTP
27 high-density lipoprotein particle assembly GO:0034380 9.68 APOA1 APOE
28 phospholipid efflux GO:0033700 9.68 APOA1 APOE
29 phosphatidylcholine metabolic process GO:0046470 9.68 CETP LCAT
30 phospholipid homeostasis GO:0055091 9.67 APOA1 CETP
31 positive regulation of cholesterol esterification GO:0010873 9.67 APOA1 APOE
32 very-low-density lipoprotein particle remodeling GO:0034372 9.67 APOE CETP LCAT LPL
33 high-density lipoprotein particle clearance GO:0034384 9.66 APOA1 APOE
34 chylomicron remnant clearance GO:0034382 9.66 APOB APOE
35 positive regulation of cholesterol storage GO:0010886 9.65 APOB LPL
36 neuron projection regeneration GO:0031102 9.65 APOA1 APOE
37 chylomicron assembly GO:0034378 9.65 APOA1 APOB APOE MTTP P4HB
38 cardiolipin acyl-chain remodeling GO:0035965 9.64 HADHA HADHB
39 very-low-density lipoprotein particle clearance GO:0034447 9.63 APOB APOE
40 regulation of Cdc42 protein signal transduction GO:0032489 9.63 APOA1 APOE
41 vitamin transport GO:0051180 9.62 APOA1 TTPA
42 triglyceride transport GO:0034197 9.62 CETP MTTP
43 lipoprotein catabolic process GO:0042159 9.61 APOB APOE
44 lipoprotein metabolic process GO:0042157 9.5 APOA1 APOB APOE CETP LCAT LPL
45 lipoprotein biosynthetic process GO:0042158 9.1 APOA1 APOB APOE LCAT MTTP P4HB
46 transport GO:0006810 10.24 APOA1 APOB APOE CETP MTTP SAR1B
47 lipid metabolic process GO:0006629 10.02 APOA1 APOB APOE CETP HADHA HADHB
48 cellular protein metabolic process GO:0044267 10.01 APOA1 APOB APOE IGF1 P4HB PRL
49 post-translational protein modification GO:0043687 10 APOA1 APOB APOE P4HB

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

(show all 17)
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....