MCID: ABT001
MIFTS: 57

Abetalipoproteinemia malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Gastrointestinal diseases, Metabolic diseases, Endocrine diseases, Blood diseases categories

Aliases & Classifications for Abetalipoproteinemia

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Sources:
23Genetics Home Reference, 49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 12DISEASES, 51Orphanet, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 59SNOMED-CT, 42NCIt, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Abetalipoproteinemia:

Name: Abetalipoproteinemia 49 10 11 45 22 23 47 12 51 65 36 67
Familial Hypobetalipoproteinemia 10 45 23 65
Microsomal Triglyceride Transfer Protein Deficiency Disease 10 45 23
Abetalipoproteinemia Neuropathy 45 23 65
Acanthocytosis 23 65 67
Abl 45 22 67
Microsomal Triglyceride Transfer Protein Deficiency 45 67
Congenital Betalipoprotein Deficiency Syndrome 45 23
Homozygous Familial Hypobetalipoproteinemia 45 51
Betalipoprotein Deficiency Disease 45 23
 
Apolipoprotein B Deficiency 45 23
Bassen-Kornzweig Syndrome 23 67
Bassen-Kornzweig Disease 45 51
Mtp Deficiency 45 67
Fhbl 45 23
Hypobetalipoproteinemia, Familial, Apolipoprotein B 65
Hypobetalipoproteinemia, Familial 45
Bassen Kornzweig Syndrome 45
Hypobetalipoproteinemias 65
Hypobetalipoproteinemia 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
abetalipoproteinemia:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

OMIM49 200100
Disease Ontology10 DOID:1386
MeSH36 D000012
NCIt42 C84525
Orphanet51 14
ICD10 via Orphanet28 E78.6
MESH via Orphanet37 D000012
UMLS via Orphanet66 C0000744
MedGen34 C0000744

Summaries for Abetalipoproteinemia

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Genetics Home Reference:23 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 familial hypobetalipoproteinemia, is related to hypobetalipoproteinemia and chylomicron retention disease, and has symptoms including malabsorption, muscular hypotonia and reduced tendon reflexes. An important gene associated with Abetalipoproteinemia is MTTP (Microsomal Triglyceride Transfer Protein), and among its related pathways are Vitamin digestion and absorption and Folate Metabolism. Affiliated tissues include eye, liver and brain, and related mouse phenotypes are liver/biliary system and cardiovascular system.

Disease Ontology:10 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:45 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

OMIM:49 Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL; 615558) are rare diseases characterized by... (200100) more...

UniProtKB/Swiss-Prot:67 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:68 Abetalipoproteinemia, or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder that... more...

Related Diseases for Abetalipoproteinemia

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

(show top 50)    (show all 840)
idRelated DiseaseScoreTop Affiliating Genes
1hypobetalipoproteinemia30.5ANGPTL3, APOB, APOE, LCAT, MTTP
2chylomicron retention disease30.0APOA1, APOB
3myocardial infarction29.6APOA1, APOB, APOE, CETP
4hypertension, essential29.5APOA1, APOB, APOE, LPL
5artery disease29.3APOA1, APOB, APOE, CETP
6diabetes mellitus, insulin-dependent29.1APOA1, APOB, CETP, LPL
7vascular hemostatic disease29.0APOA1, APOB, APOE, CETP, LPL
8obesity29.0APOA1, APOB, APOE, CETP, LCAT, LPL
9leukemia11.1
10myeloid leukemia10.9
11choreoacanthocytosis10.7
12lymphoblastic leukemia10.7
13acute leukemia10.5
14lung cancer10.4
15central nervous system disease10.4
16nervous system disease10.4
17breast cancer10.4
18acute lymphocytic leukemia10.4
19leukemia, chronic myeloid, somatic10.4
20lymphoid leukemia10.4
21chronic myelocytic leukemia10.4
22chronic leukemia10.4
23chronic monocytic leukemia10.4
24chronic myeloproliferative disease10.4
25adult acute lymphocytic leukemia10.4
26thoracic cancer10.4
27prostate cancer10.3
28aplastic anemia10.3
29leukemia, acute lymphoblastic10.3
30burkitt lymphoma10.3
31acute lymphoblastic leukemia, childhood10.3
32bronchus carcinoma10.3
33adult lymphoma10.3
34bone marrow cancer10.3
35bronchial disease10.3
36bronchial neoplasm10.3
37lymphoblastic lymphoma10.3
38lymphosarcoma10.3
39lymphatic system disease10.3
40precursor lymphoblastic lymphoma/leukemia10.3
41mcleod syndrome with or without chronic granulomatous disease10.3
42neurologic diseases10.3
43lymphatic system cancer10.3
44thyroiditis10.3
45lymphatic neoplasm10.3
46mental retardation hypocupremia hypobetalipoproteinemia10.3
47hepatitis10.3
48neuropathy10.3
49chromosomal disease10.3
50gastrointestinal system cancer10.3

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:

 51 (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 16)
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 abnormality of retinal pigmentation typical (50%) HP:0007703
6 abnormality of movement typical (50%) HP:0100022
7 visual impairment occasional (7.5%) HP:0000505
8 autosomal recessive inheritance HP:0000007
9 retinopathy HP:0000488
10 pigmentary retinal degeneration HP:0001146
11 ataxia HP:0001251
12 acanthocytosis HP:0001927
13 fat malabsorption HP:0002630
14 cns demyelination HP:0007305
15 abetalipoproteinemia HP:0008181
16 peripheral demyelination HP:0011096

Drugs & Therapeutics for Abetalipoproteinemia

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

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Vitamin Eapproved, nutraceuticalPhase 235059-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-Tocopherol
(+)-alpha-tocopherol
(+)-α-tocopherol
(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-trimethyltridecyl]chroman-6-ol
(2R)-3,4-Dihydro-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol
(2R,4'R,8'R)-a-Tocopherol
(2R,4'R,8'R)-alpha-Tocopherol
(2R,4'R,8'r)-alpha-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-alpha-tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
Amino-Opti-E
Aquasol E
D-alpha-Tocopherol
Daltose
Denamone
E-200 I.U. Softgels
 
E-Complex-600
E-Ferol
E-Vitamin succinate
Eprolin
Gordo-Vite E
Phytogermin
Phytogermine
RRR-alpha-tocopherol
RRR-alpha-tocopheryl
Tocopherol
Vitamin E
Vitamin Ea
Vitamin Plus E Softgells
Vitamin e
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
d-alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
2TocotrienolsPhase 2352
3TocopherolsPhase 2355
4TocopherolNutraceuticalPhase 2355
5TocotrienolNutraceuticalPhase 2352
6
Vitamin Aapproved, nutraceutical38611103-57-4, 68-26-8445354
Synonyms:
(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraen-1-ol
(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraen-1-ol
(2e,4e,6e,8e)-3,7-Dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraen-1-ol
(all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
.alpha.lin
.alpha.sterol
.beta.-Retinol
11103-57-4
13123-33-6
1341-18-0
1406-67-3
17104-91-5
1rbp
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclchexen-1-yl)-2,4,6,8-nonatetraen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonate-traen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexenyl)-2,4,6,8-nonatetraen-1-ol
3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol, (all-E)-Isomer
4-06-00-04133 (Beilstein Handbook Reference)
53637-36-8
5979-23-7
68-26-8
95144_FLUKA
95144_SIGMA
95146_FLUKA
95146_SIGMA
A-Mulsal
A-Sol
A-Vi-Pel
A-Vitan
AC-11701
AC1L9HU3
AC1Q7BU9
ACON
ALL-TRANS RETINOL (SEE ALSO RETINOID PROJECT 1)
AR-1L3057
ATAV
Afaxin
Agiolan
Agoncal
Alcohol 9,13-dimethyl-7-(1,1,5-trimethyl-6-cyclohexen-5-yl)-7,9,11,13-nonatetraen-15-ol
Alcovit A
All Trans Retinol
All-trans retinol
All-trans-Retinol
Alphalin
Alphasterol
Anatola
Anatola A
Anti-infective vitamin
Antixerophthalmic vitamin
Antixerophthalmisches Vitamin
Aoral
Apexol
Apostavit
Aquasol A
Aquasol A Parenteral
Aquasynth
Atars
Avibon
Avita
Avitol
Axerol
Axerophthol
Axerophtholum
BIDD:PXR0102
BRN 0403040
Bentavit A
Biosterol
C00473
C17276
C20H30O
CCRIS 5444
CHEBI:17336
CHEMBL986
CID445354
Chocola A
Chocola a
Cylasphere
D014801
D06543
DB00162
Del-VI-A
Disatabs Tabs
Dofsol
Dohyfral A
EINECS 200-683-7
EINECS 234-328-2
Epiteliol
HMS1921B04
HMS2092L13
HMS501I08
HSDB 815
Hi-A-Vita
Homagenets Aoral
Homagenets aorl
Hydrovit A
IDI1_000486
LMPR01090001
LPK
LS-1578
Lard Factor
M.V.C. 9+3
M.V.I.-12
 
MLS001066379
MLS001074751
MolPort-001-785-962
Mvc Plus
Myvpack
NCGC00091784-01
NCGC00091784-02
NCGC00091784-03
NCGC00091784-04
NCGC00091784-05
NCGC00091784-06
NSC 122759
NSC122759
Nio-A-Let
Oleovitamin A
Ophthalamin
Plivit A
Prepalin
R7632_SIGMA
Retin-11,12-t2-ol (9CI)
Retinol
Retinol [INN:BAN]
Retinol solution
Retinol, all-trans- (8CI)
Retinol-(cellular-retinol-binding-protein)
Retinolo
Retinolo [DCIT]
Retinolum
Retinolum [INN-Latin]
Retrovitamin A
Ro-a-vit
Rovimix A 500
SDCCGMLS-0066724.P001
SMP2_000102
SMR000112036
SPECTRUM1501203
ST057232
Sehkraft A
Solu-A
Spectrum5_000993
Spectrum5_001997
Super A
Testavol
Testavol S
Thalasphere
UNII-81G40H8B0T
UNII-G2SH0XKK91
Vaflol
Vafol
Veroftal
Vi-.alpha.
Vi-Alpha
Vi-Dom-A
Vi-a
Vio-A
Vitamin A
Vitamin A (Feed)
Vitamin A (USP)
Vitamin A alcohol
Vitamin A alcohol (VAN)
Vitamin A cryst
Vitamin A palmitate
Vitamin A1
Vitamin A1 alcohol
Vitamin A1 alcohol, all trans
Vitamin a
Vitamin- A
Vitamin- A alcohol
Vitamin- A alcohol solution
Vitamin- A1
Vitamin-?A
Vitamin-?A alcohol
Vitamin-?A alcohol solution
Vitamin-?A1
Vitamine A
Vitaminum A
Vitavel A
Vitavel-A
Vitpex
Vogan
Vogan-Neu
Vogan-nu
WLN: L6UTJ A1 B1U1Y1&U2U1Y1&U2Q C1 C1
Wachstumsvitamin
ZINC03831417
Zinosan N
[11,12-3H]-Retinol
alin
all-trans-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
all-trans-Retinol
all-trans-Retinyl alcohol
all-trans-Vitamin A
all-trans-Vitamin A alcohol
all-trans-Vitamin A1
all-trans-retinol
all-trans-retinyl alcohol
all-trans-vitamin A alcohol
b-Retinol
beta-Retinol
retinol
tROL
trans-Retinol
trans-Retinol acid (Vitamin A)
trans-Vitamin A alcohol
trans-retinol
7Retinol palmitate386
8retinolNutraceutical386

Interventional clinical trials:

idNameStatusNCT IDPhase
1Vitamin E Supplement in Patients With Cirrhosis and AcanthocytosisCompletedNCT01463735Phase 2
2Vitamin Replacement in AbetalipoproteinemiaCompletedNCT00004574
3Lipoprotein Metabolism in Normal Volunteers and Patients With High Levels of LipoproteinsRecruitingNCT00001154
4Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940

Search NIH Clinical Center for Abetalipoproteinemia


Cochrane evidence based reviews: Abetalipoproteinemia

Genetic Tests for Abetalipoproteinemia

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Genetic tests related to Abetalipoproteinemia:

id Genetic test Affiliating Genes
1 Abetalipoproteinemia22 MTTP

Anatomical Context for Abetalipoproteinemia

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MalaCards organs/tissues related to Abetalipoproteinemia:

33
Eye, Liver, Brain, Skeletal muscle

Animal Models for Abetalipoproteinemia or affiliated genes

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MGI Mouse Phenotypes related to Abetalipoproteinemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053707.7ANGPTL3, APOA1, APOB, APOE, LCAT, LPL
2MP:00053857.4APOA1, APOB, APOE, LCAT, LPL, MTTP
3MP:00053766.9ANGPTL3, APOA1, APOB, APOE, LCAT, LPL

Publications for Abetalipoproteinemia

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Articles related to Abetalipoproteinemia:

(show top 50)    (show all 165)
idTitleAuthorsYear
1
Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia. (26086616)
2015
2
Macular atrophy in a case of abetalipoproteinemia as only ocular clinical feature. (26040232)
2015
3
Fat accumulation in enterocytes: a key to the diagnosis of abetalipoproteinemia or homozygous hypobetalipoproteinemia. (26062159)
2015
4
Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal I^-Barrel in Microsomal Triglyceride Transfer Protein Function. (26224785)
2015
5
Hypobetalipoproteinemia and abetalipoproteinemia. (24751931)
2014
6
Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia. (24139731)
2014
7
A successful spontaneous pregnancy in abetalipoproteinemia: Amsterdam or the art of vitamin replacement? (25488886)
2014
8
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia. (23043934)
2013
9
Abetalipoproteinemia in a Saudi infant. (21333248)
2011
10
Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function. (20592474)
2010
11
Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia. (19056372)
2009
12
Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases. (19066957)
2009
13
Fat-soluble vitamin deficiency in pregnancy: a case report and review of abetalipoproteinemia. (17022912)
2006
14
Endocrine function in abetalipoproteinemia: a study of a female patient of Greek origin. (15960365)
2004
15
The c.419-420insA in the MTP gene is associated with abetalipoproteinemia among French-Canadians. (14741197)
2004
16
Rickets as an unusual initial presentation of abetalipoproteinemia and hypobetalipoproteinemia. (11308051)
2001
17
Abetalipoproteinemia: a case report. (11592517)
2001
18
Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene. (10446076)
1999
19
Pathological case of the month. Abetalipoproteinemia (Bassen-Kornzweig syndrome). (9412607)
1997
20
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
21
Translocation of apolipoprotein B across the endoplasmic reticulum is blocked in abetalipoproteinemia. (8808765)
1996
22
The abetalipoproteinemia gene is a member of the vitellogenin family and encodes an alpha-helical domain. (7664034)
1994
23
The molecular basis of abetalipoproteinemia. (8044420)
1994
24
Microsomal triglyceride transfer protein, the abetalipoproteinemia gene product, mediates the secretion of apolipoprotein B-containing lipoproteins from heterologous cells. (8071315)
1994
25
Abetalipoproteinemia. New insights into lipoprotein assembly and vitamin E metabolism from a rare genetic disease. (8340987)
1993
26
Histochemical and ultrastructural pathology of skeletal muscle in a patient with abetalipoproteinemia. (8310805)
1993
27
Abnormal platelet functions in a patient with abetalipoproteinemia. (1904656)
1991
28
Neutral lipid transfer activities in the plasma of patients with abetalipoproteinemia. (3377877)
1988
29
In vivo evidence for cholesterol ester and triglyceride exchange between high density lipoprotein and infused triglyceride rich particles in abetalipoproteinemia. (3223418)
1988
30
Abetalipoproteinemia or Bassen-Kornzweig syndrome. Clinical, biochemical and electrophysiological features of two cases. (3206997)
1988
31
Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia. (2903181)
1988
32
Abetalipoproteinemia associated with hepatic and atypical neurological disorders. (3694376)
1987
33
Absence of intestinal synthesis of apolipoprotein B-48 in two cases of abetalipoproteinemia. (3653634)
1987
34
Abetalipoproteinemia. A case report. (3832509)
1985
35
Vitamin A and vitamin E replacement in abetalipoproteinemia. (6691669)
1984
36
Electrophysiological studies in five cases of abetalipoproteinemia. (6704795)
1984
37
A case report of abetalipoproteinemia (Bassen-Kornzweig syndrome)--the first case in Japan. (6620711)
1983
38
Corticosteroid production in abetalipoproteinemia: evidence for an impaired response ACTH. (6283000)
1982
39
Hormone changes during the menstrual cycle in abetalipoproteinemia: reduced luteal phase progesterone in a patient with homozygous hypobetalipoproteinemia. (6959145)
1982
40
Importance of cholesterol-phospholipid interaction in determining dynamics of normal and abetalipoproteinemia red blood cell membrane. (6168375)
1981
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:

67
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:

5
id Gene Variation 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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Search GEO for disease gene expression data for Abetalipoproteinemia.

Pathways for genes affiliated with Abetalipoproteinemia

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GO Terms for genes affiliated with Abetalipoproteinemia

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1intermediate-density lipoprotein particleGO:003436310.4APOB, APOE
2low-density lipoprotein particleGO:003436210.4APOB, APOE
3extracellular vesicleGO:19035619.9APOA1, APOE
4endocytic vesicle lumenGO:00716829.9APOA1, APOB, APOE
5chylomicronGO:00426279.4APOA1, APOB, APOE, LPL
6very-low-density lipoprotein particleGO:00343619.4APOA1, APOB, APOE, LPL
7endoplasmic reticulum lumenGO:00057889.1APOA1, APOB, MTTP, P4HB
8high-density lipoprotein particleGO:00343649.0APOA1, APOE, CETP, LCAT
9early endosomeGO:00057699.0ANGPTL3, APOA1, APOB, APOE
10extracellular exosomeGO:00700627.2APOA1, APOB, APOE, CETP, LCAT, LPL
11extracellular regionGO:00055767.1APOA1, APOB, APOE, CETP, LCAT, LPL
12extracellular spaceGO:00056156.7ANGPTL3, APOA1, APOB, APOE, CETP, LCAT

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

(show all 41)
idNameGO IDScoreTop Affiliating Genes
1lipoprotein catabolic processGO:004215910.5APOB, APOE
2lipoprotein transportGO:004295310.4APOB, MTTP
3response to reactive oxygen speciesGO:000030210.3APOE, P4HB
4positive regulation of cholesterol storageGO:001088610.2APOB, LPL
5neuron projection regenerationGO:003110210.2APOA1, APOE
6positive regulation of macrophage derived foam cell differentiationGO:001074410.2APOB, LPL
7positive regulation of cholesterol esterificationGO:001087310.2APOA1, APOE
8high-density lipoprotein particle assemblyGO:003438010.1APOA1, APOE
9high-density lipoprotein particle clearanceGO:003438410.1APOA1, APOE
10regulation of Cdc42 protein signal transductionGO:003248910.1APOA1, APOE
11phospholipid effluxGO:003370010.1APOA1, APOE
12phosphatidylcholine biosynthetic processGO:000665610.1APOA1, LCAT
13phosphatidylcholine metabolic processGO:004647010.0CETP, LCAT
14vitamin transportGO:005118010.0APOA1, TTPA
15triglyceride transportGO:00341979.9CETP, MTTP
16cholesterol effluxGO:00333449.8APOA1, APOB, APOE
17cholesterol biosynthetic processGO:00066959.8APOA1, APOE
18lipid storageGO:00199159.8ANGPTL3, APOA1
19artery morphogenesisGO:00488449.7ANGPTL3, APOB, APOE
20lipoprotein biosynthetic processGO:00421589.6APOA1, APOB, APOE, LCAT
21low-density lipoprotein particle remodelingGO:00343749.5APOB, APOE, CETP
22phospholipid transportGO:00159149.4APOA1, CETP, MTTP
23lipid homeostasisGO:00550889.3ANGPTL3, APOE, CETP
24phospholipid homeostasisGO:00550919.3ANGPTL3, APOA1, CETP
25triglyceride catabolic processGO:00194339.2APOA1, APOB, APOE, LPL
26retinoid metabolic processGO:00015239.0APOA1, APOB, APOE, LPL
27phototransduction, visible lightGO:00076039.0APOA1, APOB, APOE, LPL
28phospholipid metabolic processGO:00066449.0ANGPTL3, APOA1, LCAT, LPL
29high-density lipoprotein particle remodelingGO:00343758.9APOA1, APOE, CETP, LCAT
30reverse cholesterol transportGO:00436918.9APOA1, APOE, CETP, LCAT
31triglyceride metabolic processGO:00066418.8APOE, CETP, LPL, MTTP
32triglyceride homeostasisGO:00703288.7ANGPTL3, APOA1, CETP, LPL
33lipid transportGO:00068698.6APOA1, APOB, APOE, CETP, MTTP
34very-low-density lipoprotein particle remodelingGO:00343728.6APOA1, APOE, CETP, LCAT, LPL
35cholesterol transportGO:00303018.6APOA1, APOB, APOE, CETP, LCAT
36receptor-mediated endocytosisGO:00068988.4APOA1, APOB, APOE, CETP
37lipid metabolic processGO:00066298.4APOB, APOE, LCAT, LPL, MTTP, TTPA
38cholesterol metabolic processGO:00082037.8ANGPTL3, APOA1, APOB, APOE, CETP, LCAT
39cholesterol homeostasisGO:00426327.8ANGPTL3, APOA1, APOB, APOE, CETP, LCAT
40lipoprotein metabolic processGO:00421577.5APOA1, APOB, APOE, CETP, LCAT, LPL
41small molecule metabolic processGO:00442816.8APOA1, APOB, APOE, CETP, LCAT, LPL

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1low-density lipoprotein particle receptor bindingGO:005075010.1APOB, APOE
2apolipoprotein bindingGO:003418510.1LPL, MTTP
3phosphatidylcholine-sterol O-acyltransferase activator activityGO:006022810.0APOA1, APOE
4lipoprotein particle bindingGO:00718139.8APOA1, APOE
5triglyceride bindingGO:00171299.8CETP, LPL
6beta-amyloid bindingGO:00015409.5APOA1, APOE
7phosphatidylcholine bindingGO:00312109.4APOA1, CETP
8phospholipid transporter activityGO:00055489.4APOA1, CETP, MTTP
9heparin bindingGO:00082019.3APOB, APOE, LPL
10phospholipid bindingGO:00055439.3APOA1, APOB, APOE
11cholesterol bindingGO:00154859.2APOA1, APOE, CETP
12cholesterol transporter activityGO:00171278.9APOA1, APOB, APOE, CETP
13lipid transporter activityGO:00053198.5APOA1, APOB, APOE, CETP, MTTP
14lipid bindingGO:00082897.8APOA1, APOB, APOE, CETP, MTTP

Sources for Abetalipoproteinemia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet