ABL
MCID: ABT001
MIFTS: 65

Abetalipoproteinemia (ABL) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Gastrointestinal diseases, Metabolic diseases, Endocrine diseases, Blood diseases categories
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Summaries for Abetalipoproteinemia

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Genetics Home Reference:21 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.

MalaCards based summary: Abetalipoproteinemia, also known as microsomal triglyceride transfer protein deficiency disease, is related to hypobetalipoproteinemia and chylomicron retention disease, and has symptoms including malabsorption/chronic diarrhea/steatorrhea, autosomal recessive inheritance and retinitis pigmentosa/retinal pigmentary changes. An important gene associated with Abetalipoproteinemia is MTTP (microsomal triglyceride transfer protein), and among its related pathways are Fatty acid metabolism and Mitochondrial LC-Fatty Acid Beta-Oxidation. The compounds TG(18:1(9Z)/18:1(9Z)/18:2(9Z,12Z))[iso3] and TG(18:0/18:1(9Z)/18:1(9Z))[iso3] have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and brain, and related mouse phenotypes are liver/biliary system and cardiovascular system.

Disease Ontology:8 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 caused by mutation of 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).

NIH Rare Diseases:42 Abetalipoproteinemia is a disease in which a person is unable 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 gain weight and grow at the expected rate (failure to thrive); diarrhea; acanthocytosis; and stool abnormalities. other features of this disorder may develop later in childhood and often impair the function of the nervous system, potentially causing poor muscle coordination, ataxia, and an eye disorder called retinitis pigmentosa. abetalipoproteinemia is usually caused by mutations in the mttp gene and is inherited in an autosomal recessive manner. treatment may include dietary modification and various dietary supplements. last updated: 3/26/2012

Wikipedia:65 Abetalipoproteinemia, or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder that... more...

Description from OMIM:46 200100

Aliases & Classifications for Abetalipoproteinemia

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Sources:
21Genetics Home Reference, 8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 39NCIt, 34MeSH, 57SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Abetalipoproteinemia, Aliases & Descriptions:

Name: Abetalipoproteinemia 8 9 42 20 21 46 10 44 48 62
Microsomal Triglyceride Transfer Protein Deficiency Disease 8 42 21 62
Familial Hypobetalipoproteinemia 8 42 21 62
Congenital Betalipoprotein Deficiency Syndrome 42 21 62
Betalipoprotein Deficiency Disease 42 21 62
Abetalipoproteinemia Neuropathy 42 21 62
Apolipoprotein B Deficiency 42 21 62
Bassen-Kornzweig Syndrome 21 62
Bassen-Kornzweig Disease 48 62
Acanthocytosis 21 62
 
Microsomal-Triglyceride Transfer Protein Deficiency 42
Microsomal Triglyceride Transfer Protein Deficiency 62
Homozygous Familial Hypobetalipoproteinemia 48
Low-Density Beta Lipoprotein Deficiency 42
Hypobetalipoproteinemia, Familial 42
Hypo Beta Lipoproteinemia 62
Bassen Kornzweig Syndrome 42
Hypobetalipoproteinemia 21
Fhbl 21
Abl 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
abetalipoproteinemia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

Disease Ontology8 DOID:1386
NCIt39 C84525
MeSH34 D000012
OMIM46 200100
MESH via Orphanet35 D000012
ICD10 via Orphanet26 E78.6
UMLS via Orphanet63 C0000744

Related Diseases for Abetalipoproteinemia

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Graphical network of the top 20 diseases related to Abetalipoproteinemia:



Diseases related to abetalipoproteinemia

Symptoms for Abetalipoproteinemia

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Symptoms by clinical synopsis from OMIM:

200100

Clinical features from OMIM:

200100

Symptoms:

48 (show all 8)
  • malabsorption/chronic diarrhea/steatorrhea
  • autosomal recessive inheritance
  • retinitis pigmentosa/retinal pigmentary changes
  • ataxia/incoordination/trouble of the equilibrium
  • movement disorder
  • hypotonia
  • areflexia/hyporeflexia
  • visual loss/blindness/amblyopia

HPO human phenotypes related to Abetalipoproteinemia:

(show all 25)
id Description Frequency HPO Source Accession
1 malabsorption hallmark (90%) HP:0002024
2 muscular hypotonia typical (50%) HP:0001252
3 reduced tendon reflexes typical (50%) HP:0001315
4 incoordination typical (50%) HP:0002311
5 abnormal retinal pigmentation typical (50%) HP:0007703
6 abnormality of movement typical (50%) HP:0100022
7 visual impairment occasional (7.5%) HP:0000505
8 autosomal dominant inheritance HP:0000006
9 retinitis pigmentosa HP:0000510
10 ataxia HP:0001251
11 reduced tendon reflexes HP:0001315
12 coronary artery disease HP:0001677
13 acanthocytosis HP:0001927
14 fat malabsorption HP:0002630
15 hypercholesterolemia HP:0003124
16 hypobetalipoproteinemia HP:0003563
17 autosomal recessive inheritance HP:0000007
18 retinopathy HP:0000488
19 pigmentary retinal degeneration HP:0001146
20 ataxia HP:0001251
21 acanthocytosis HP:0001927
22 fat malabsorption HP:0002630
23 cns demyelination HP:0007305
24 abetalipoproteinemia HP:0008181
25 peripheral demyelination HP:0011096

Drugs & Therapeutics for Abetalipoproteinemia

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Drug clinical trials:

Search ClinicalTrials for Abetalipoproteinemia

Search NIH Clinical Center for Abetalipoproteinemia

Genetic Tests for Abetalipoproteinemia

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Genetic tests related to Abetalipoproteinemia:

id Genetic test Affiliating Genes
1 Abetalipoproteinemia20 MTTP

Anatomical Context for Abetalipoproteinemia

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MalaCards organs/tissues related to Abetalipoproteinemia:

32
Eye, Liver, Brain, Spinal cord, Skeletal muscle

Animal Models for Abetalipoproteinemia or affiliated genes

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MGI Mouse Phenotypes related to Abetalipoproteinemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.7MTTP, APOB, HADHB
2MP:00053857.9MTTP, APOB, TTPA, HADHB

Publications for Abetalipoproteinemia

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Articles related to Abetalipoproteinemia:

(show top 50)    (show all 158)
idTitleAuthorsYear
1
Hypobetalipoproteinemia and abetalipoproteinemia. (24751931)
2014
2
Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia. (24139731)
2014
3
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia. (23043934)
2013
4
Abetalipoproteinemia in a Saudi infant. (21333248)
2011
5
Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function. (20592474)
2010
6
Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia. (19056372)
2009
7
Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases. (19066957)
2009
8
Fat-soluble vitamin deficiency in pregnancy: a case report and review of abetalipoproteinemia. (17022912)
2006
9
Endocrine function in abetalipoproteinemia: a study of a female patient of Greek origin. (15960365)
2004
10
The c.419-420insA in the MTP gene is associated with abetalipoproteinemia among French-Canadians. (14741197)
2004
11
Rickets as an unusual initial presentation of abetalipoproteinemia and hypobetalipoproteinemia. (11308051)
2001
12
Abetalipoproteinemia: a case report. (11592517)
2001
13
Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene. (10446076)
1999
14
Pathological case of the month. Abetalipoproteinemia (Bassen-Kornzweig syndrome). (9412607)
1997
15
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
16
Translocation of apolipoprotein B across the endoplasmic reticulum is blocked in abetalipoproteinemia. (8808765)
1996
17
The abetalipoproteinemia gene is a member of the vitellogenin family and encodes an alpha-helical domain. (7664034)
1994
18
The molecular basis of abetalipoproteinemia. (8044420)
1994
19
Microsomal triglyceride transfer protein, the abetalipoproteinemia gene product, mediates the secretion of apolipoprotein B-containing lipoproteins from heterologous cells. (8071315)
1994
20
Abetalipoproteinemia. New insights into lipoprotein assembly and vitamin E metabolism from a rare genetic disease. (8340987)
1993
21
Histochemical and ultrastructural pathology of skeletal muscle in a patient with abetalipoproteinemia. (8310805)
1993
22
Abnormal platelet functions in a patient with abetalipoproteinemia. (1904656)
1991
23
Neutral lipid transfer activities in the plasma of patients with abetalipoproteinemia. (3377877)
1988
24
In vivo evidence for cholesterol ester and triglyceride exchange between high density lipoprotein and infused triglyceride rich particles in abetalipoproteinemia. (3223418)
1988
25
Abetalipoproteinemia or Bassen-Kornzweig syndrome. Clinical, biochemical and electrophysiological features of two cases. (3206997)
1988
26
Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia. (2903181)
1988
27
Abetalipoproteinemia associated with hepatic and atypical neurological disorders. (3694376)
1987
28
Absence of intestinal synthesis of apolipoprotein B-48 in two cases of abetalipoproteinemia. (3653634)
1987
29
Abetalipoproteinemia. A case report. (3832509)
1985
30
Peripheral neuropathy in abetalipoproteinemia. (2991816)
1985
31
Abetalipoproteinemia and metastatic spinal cord glioblastoma. (6326713)
1984
32
Abetalipoproteinemia. Report of an unusual patient. (6472810)
1984
33
Vitamin A and vitamin E replacement in abetalipoproteinemia. (6691669)
1984
34
Electrophysiological studies in five cases of abetalipoproteinemia. (6704795)
1984
35
Alterations in erythrocyte membrane lipids in abetalipoproteinemia: phospholipid and fatty acyl composition. (6497872)
1984
36
A case report of abetalipoproteinemia (Bassen-Kornzweig syndrome)--the first case in Japan. (6620711)
1983
37
Corticosteroid production in abetalipoproteinemia: evidence for an impaired response ACTH. (6283000)
1982
38
Hormone changes during the menstrual cycle in abetalipoproteinemia: reduced luteal phase progesterone in a patient with homozygous hypobetalipoproteinemia. (6959145)
1982
39
Importance of cholesterol-phospholipid interaction in determining dynamics of normal and abetalipoproteinemia red blood cell membrane. (6168375)
1981
40
The neuropathy of abetalipoproteinemia. (6153056)
1980
41
Sterol balance in abetalipoproteinemia: studies in a patient with homozygous familial hypobetalipoproteinemia. (491973)
1979
42
Endoscopic assessment in abetalipoproteinemia (Bassen-Kornzweig-syndrome). (631097)
1978
43
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
44
Decreased fluidity of red cell membrane lipids in abetalipoproteinemia. (874076)
1977
45
Abetalipoproteinemia and the eye. (782598)
1976
46
Abetalipoproteinemia. (4719023)
1973
47
Abetalipoproteinemia: metabolic, endocrine, and electron-microscopic investigations. (5561886)
1971
48
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
49
Peroxidative hemolysis of red blood cells from patients with abetalipoproteinemia (acanthocytosis). (6023771)
1967
50
Abnormalities of high density lipoproteins in abetalipoproteinemia. (6027078)
1967

Variations for Abetalipoproteinemia

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UniProtKB/Swiss-Prot genetic disease variations for Abetalipoproteinemia:

64
id Symbol AA change Variation ID SNP ID
1MTTPp.Arg540HisVAR_010642
2MTTPp.Ser590IleVAR_010643
3MTTPp.Gly746GluVAR_010644
4MTTPp.Asn780TyrVAR_014019

Clinvar genetic disease variations for Abetalipoproteinemia:

6
id Gene Name Type Significance SNP ID Assembly Location
1MTTPMTP, 1-BP DEL, 215CdeletionPathogenic
2MTTPNM_000253.3(MTTP): c.1783C> T (p.Arg595Ter)single nucleotide variantPathogenicrs199422219GRCh37Chr 4, 100532313: 100532313
3MTTPMTP, IVS, G-A, +5single nucleotide variantPathogenic
4MTTPMTP, IVS9AS, G-A, -1single nucleotide variantPathogenic
5MTTPNM_000253.3(MTTP): c.1619G> A (p.Arg540His)single nucleotide variantPathogenicrs199422220GRCh37Chr 4, 100529984: 100529984
6MTTPMTP, EXON 10 DELdeletionPathogenic
7MTTPNM_000253.3(MTTP): c.2338A> T (p.Asn780Tyr)single nucleotide variantPathogenicrs199422221GRCh37Chr 4, 100540251: 100540251
8MTTPNM_000253.3(MTTP): c.1769G> T (p.Ser590Ile)single nucleotide variantPathogenicrs199422222GRCh37Chr 4, 100530134: 100530134
9MTTPNM_000253.3(MTTP): c.2593G> T (p.Gly865Ter)single nucleotide variantPathogenicrs146064714GRCh37Chr 4, 100543913: 100543913

Expression for genes affiliated with Abetalipoproteinemia

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Expression patterns in normal tissues for genes affiliated with Abetalipoproteinemia

Search GEO for disease gene expression data for Abetalipoproteinemia.

Pathways for genes affiliated with Abetalipoproteinemia

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Pathways related to Abetalipoproteinemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
mitochondrial L-carnitine shuttle pathway37
Saturated fatty acid biosynthesis60
9.3HADHB, CPT2
2
Show member pathways
fatty acid beta-oxidation III (unsaturated, odd number)37
Fatty Acid Beta Oxidation37
9.3CPT2, HADHB
3
Show member pathways
9.2MTTP, APOB
4
Show member pathways
9.2APOB, MTTP
5
Show member pathways
9.2APOB, MTTP
6
Show member pathways
8.1MTTP, CPT2, APOB, HADHB

Compounds for genes affiliated with Abetalipoproteinemia

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Sources:
24HMDB, 44Novoseek, 50PharmGKB, 11DrugBank
See all sources

Compounds related to Abetalipoproteinemia according to GeneCards/GeneDecks:

(show top 50)    (show all 158)
idCompoundScoreTop Affiliating Genes
1TG(18:1(9Z)/18:1(9Z)/18:2(9Z,12Z))[iso3]249.8MTTP, CPT2
2TG(18:0/18:1(9Z)/18:1(9Z))[iso3]249.8MTTP, CPT2
3TG(18:0/20:1(11Z)/20:4(5Z,8Z,11Z,14Z))[iso6]249.8MTTP, CPT2
4TG(18:0/20:4(5Z,8Z,11Z,14Z)/20:4(5Z,8Z,11Z,14Z))[iso3]249.8MTTP, CPT2
5TG(18:0/18:0/20:4(5Z,8Z,11Z,14Z))[iso3]249.8CPT2, MTTP
6TG(18:0/18:0/20:1(11Z))[iso3]249.8CPT2, MTTP
7TG(18:0/18:0/20:0)[iso3]249.8CPT2, MTTP
8TG(16:1(9Z)/18:2(9Z,12Z)/18:2(9Z,12Z))[iso3]249.8CPT2, MTTP
9TG(16:1(9Z)/18:1(9Z)/20:4(5Z,8Z,11Z,14Z))[iso6]249.8CPT2, MTTP
10TG(18:1(9Z)/18:1(9Z)/20:0)[iso3]249.8MTTP, CPT2
11TG(20:4(5Z,8Z,11Z,14Z)/20:4(5Z,8Z,11Z,14Z)/20:4(5Z,8Z,11Z,14Z))249.8MTTP, CPT2
12TG(20:1(11Z)/20:4(5Z,8Z,11Z,14Z)/20:4(5Z,8Z,11Z,14Z))[iso3]249.8CPT2, MTTP
13TG(20:1(11Z)/20:1(11Z)/20:4(5Z,8Z,11Z,14Z))[iso3]249.8CPT2, MTTP
14TG(20:1(11Z)/20:1(11Z)/20:1(11Z))249.8CPT2, MTTP
15TG(18:2(9Z,12Z)/18:2(9Z,12Z)/20:4(5Z,8Z,11Z,14Z))[iso3]249.7CPT2, MTTP
16TG(18:2(9Z,12Z)/18:2(9Z,12Z)/20:1(11Z))[iso3]249.7CPT2, MTTP
17TG(18:2(9Z,12Z)/18:2(9Z,12Z)/20:0)[iso3]249.7CPT2, MTTP
18TG(18:2(9Z,12Z)/18:2(9Z,12Z)/18:2(9Z,12Z))249.7CPT2, MTTP
19TG(16:1(9Z)/18:1(9Z)/20:1(11Z))[iso6]249.7CPT2, MTTP
20TG(16:0/18:0/20:4(5Z,8Z,11Z,14Z))[iso6]249.7MTTP, CPT2
21TG(16:0/18:0/20:1(11Z))[iso6]249.7CPT2, MTTP
22TG(16:0/18:0/20:0)[iso6]249.7CPT2, MTTP
23TG(16:0/16:0/20:1(11Z))[iso3]249.7CPT2, MTTP
24TG(16:0/16:0/20:0)[iso3]249.7CPT2, MTTP
25TG(16:0/16:0/18:2(9Z,12Z))[iso3]249.7CPT2, MTTP
26mttp449.6APOB, MTTP
27lipovitellin449.6MTTP, APOB
28TG(16:0/16:0/18:1(9Z))[iso3]249.6CPT2, MTTP
29pluronic f127449.6APOB, MTTP
30lomitapide50 1110.6MTTP, APOB
31n-acetylleucylleucylnorleucinal449.6APOB, MTTP
32lathosterol44 2410.6APOB, MTTP
33TG(16:0/16:0/18:0)[iso3]249.6CPT2, MTTP
34naringenin44 1110.6MTTP, APOB
35TG(16:0/18:1(9Z)/18:1(9Z))[iso3]249.6MTTP, CPT2
36TG(16:1(9Z)/18:1(9Z)/20:0)[iso6]249.5CPT2, MTTP
37TG(16:1(9Z)/16:1(9Z)/18:2(9Z,12Z))[iso3]249.5CPT2, MTTP
38TG(16:1(9Z)/16:1(9Z)/18:1(9Z))[iso3]249.5CPT2, MTTP
39TG(16:1(9Z)/16:1(9Z)/18:0)[iso3]249.4CPT2, MTTP
40TG(16:0/18:1(9Z)/18:2(9Z,12Z))[iso6]249.4CPT2, MTTP
41tocopherol449.3TTPA, APOB
42acyl-coa449.3HADHB, CPT2, MTTP
43TG(16:0/20:4(5Z,8Z,11Z,14Z)/20:4(5Z,8Z,11Z,14Z))[iso3]249.3CPT2, MTTP
44sterol449.1MTTP, HADHB, APOB
45TG(16:0/20:1(11Z)/20:4(5Z,8Z,11Z,14Z))[iso6]249.1CPT2, MTTP
46palmitate448.9HADHB, APOB, CPT2
47carnitine448.5APOB, CPT2, HADHB, MTTP
48fatty acid448.5MTTP, HADHB, APOB, CPT2
49glucose448.5APOB, MTTP, CPT2, HADHB
50lipid448.0HADHB, CPT2, TTPA, MTTP, APOB

GO Terms for genes affiliated with Abetalipoproteinemia

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Cellular components related to Abetalipoproteinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:0057889.2MTTP, APOB

Biological processes related to Abetalipoproteinemia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1fatty acid beta-oxidationGO:0066359.4CPT2, HADHB
2lipoprotein transportGO:0429539.3MTTP, APOB
3cellular lipid metabolic processGO:0442559.3CPT2, HADHB
4lipid metabolic processGO:0066299.2TTPA, MTTP
5lipoprotein metabolic processGO:0421579.2APOB, MTTP
6cholesterol homeostasisGO:0426329.1MTTP, APOB
7small molecule metabolic processGO:0442818.2APOB, CPT2, MTTP, HADHB

Products for genes affiliated with Abetalipoproteinemia

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  • Antibodies
  • Proteins
  • Lysates

Sources for Abetalipoproteinemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet