MCID: ABT001
MIFTS: 60

Abetalipoproteinemia malady

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

Aliases & Classifications for Abetalipoproteinemia

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Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Abetalipoproteinemia:

Name: Abetalipoproteinemia 50 11 46 23 24 13 52 68 25 12 48 37 66
Familial Hypobetalipoproteinemia 11 46 24 66
Acanthocytosis 24 68 25 66
Microsomal Triglyceride Transfer Protein Deficiency Disease 11 46 24
Abetalipoproteinemia Neuropathy 46 24 66
Abl 46 23 68
Microsomal Triglyceride Transfer Protein Deficiency 46 68
Congenital Betalipoprotein Deficiency Syndrome 46 24
Homozygous Familial Hypobetalipoproteinemia 46 52
Betalipoprotein Deficiency Disease 46 24
 
Apolipoprotein B Deficiency 46 24
Bassen-Kornzweig Syndrome 24 68
Bassen-Kornzweig Disease 46 52
Mtp Deficiency 46 68
Fhbl 46 24
Hypobetalipoproteinemia, Familial, Apolipoprotein B 66
Hypobetalipoproteinemia, Familial 46
Bassen Kornzweig Syndrome 46
Hypobetalipoproteinemias 66
Hypobetalipoproteinemia 24

Characteristics:

Orphanet epidemiological data:

52
abetalipoproteinemia:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

62
abetalipoproteinemia:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 200100
Disease Ontology11 DOID:1386
ICD1028 E78.6
MeSH37 D000012
NCIt43 C84525
SNOMED-CT60 190787008, 83123000
Orphanet52 ORPHA14
ICD10 via Orphanet29 E78.6
MESH via Orphanet38 D000012
UMLS via Orphanet67 C0000744
MedGen35 C0000744

Summaries for Abetalipoproteinemia

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NIH Rare Diseases:46 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 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 Mitochondrial LC-Fatty Acid Beta-Oxidation. Affiliated tissues include eye, liver and skeletal muscle, and related mouse phenotypes are muscle and liver/biliary system.

Disease Ontology:11 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).

Genetics Home Reference:24 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:50 Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL; 615558) are rare diseases characterized by... (200100) more...

UniProtKB/Swiss-Prot:68 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:69 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 99)
idRelated DiseaseScoreTop Affiliating Genes
1hypobetalipoproteinemia30.9APOB, APOE, LCAT, MTTP
2choreoacanthocytosis11.8
3harp syndrome11.7
4subacute myeloid leukemia11.3
5leukemia, chronic myeloid, somatic11.3
6trifunctional protein deficiency11.0
7leukemia10.8
8myeloid leukemia10.6
9intellectual disability-developmental delay-contractures syndrome10.4APOA1, LCAT
10dysmorphism-pectus carinatum-joint laxity syndrome10.3APOB, APOE
11dermal unilateral segmental cavernous angioma10.3APOB, APOE
12hypercholesterolemia, due to ligand-defective apo b10.3APOB, APOE
13lymphoblastic leukemia10.3
14atp1a3-related neurologic disorders10.3APOE, LPL
15tyrosinemia, type ii10.3APOA1, LCAT
16lipoprotein glomerulopathy10.2APOE, LCAT
17shwachman-diamond type metaphyseal dysplasia10.2APOA1, APOB
18casr-related disorders10.2APOB, APOE
19central nervous system disease10.2
20nervous system disease10.2
21c1s deficiency10.2APOE, LPL
22chronic neutrophilic leukemia10.1
23blue toe syndrome10.1APOB, LCAT, LPL
24carnitine deficiency, systemic primary10.1APOA1, APOB, MTTP
25hyperinsulinemic hypoglycemia, familial, 410.1HADHA, MTTP
26fetal methyl mercury syndrome10.1APOA1, APOB, LCAT
27legg-calve-perthes disease10.1APOA1, APOB
28angina pectoris10.1APOA1, APOB
29hepatitis10.1
30neuropathy10.1
31breast cancer10.1
32degos 'en cocarde' erythrokeratoderma10.0APOB, APOE, LCAT
33alzheimer disease 19, late onset10.0APOB, APOE, LCAT
34acute leukemia10.0
35rickets10.0
36angioid streaks10.0
37lymphoma10.0
38thyroiditis10.0
39prostatitis10.0
40endotheliitis9.9
41sitosterolemia9.9APOB, MTTP
42hypobetalipoproteinemia, familial, 29.9
43hypolipoproteinemia9.9
44glossopharyngeal nerve neoplasm9.9APOA1, APOB, APOE
45ataxia9.9
46peripheral degeneration of cornea9.9APOB, APOE, HADHA
47iron metabolism disease9.9APOA1, APOB, APOE
48amelogenesis imperfecta, type iia39.9APOA1, APOE, LPL
49infertility9.8
50pseudocholinesterase deficiency9.8

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:

 52 (show all 7)
  • visual impairment
  • ataxia
  • muscular hypotonia
  • reduced tendon reflexes
  • malabsorption
  • abnormal retinal pigmentation
  • abnormality of movement

HPO human phenotypes related to Abetalipoproteinemia:

(show all 15)
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 retinopathy HP:0000488
9 pigmentary retinal degeneration HP:0001146
10 ataxia HP:0001251
11 acanthocytosis HP:0001927
12 fat malabsorption HP:0002630
13 cns demyelination HP:0007305
14 abetalipoproteinemia HP:0008181
15 peripheral demyelination HP:0011096

UMLS symptoms related to Abetalipoproteinemia:


ataxia

Drugs & Therapeutics for Abetalipoproteinemia

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1TocopherolNutraceuticalPhase 2395
2
vitamin eNutraceuticalPhase 239259-02-914985
Synonyms:
(+)-a-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)-α-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
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
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
3TocotrienolNutraceuticalPhase 2391
4
Vitamin ANutraceutical45011103-57-4, 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
(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 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
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 A1
Vitamin A1 alcohol
Vitamin A1 alcohol, all trans
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
5retinolNutraceutical450

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 Abetalipoproteinemia25 23 MTTP
2 Acanthocytosis25

Anatomical Context for Abetalipoproteinemia

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MalaCards organs/tissues related to Abetalipoproteinemia:

34
Eye, Liver, Skeletal muscle, Spinal cord, Brain

Animal Models for Abetalipoproteinemia or affiliated genes

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MGI Mouse Phenotypes related to Abetalipoproteinemia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.3APOB, APOE, HADHA, LPL, TTPA
2MP:00053707.9APOA1, APOB, APOE, HADHA, LCAT, LPL
3MP:00053766.9APOA1, APOB, APOE, HADHA, LCAT, LPL
4MP:00053856.6APOA1, APOB, APOE, HADHA, LCAT, LPL

Publications for Abetalipoproteinemia

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Articles related to Abetalipoproteinemia:

(show top 50)    (show all 169)
idTitleAuthorsYear
1
A tale of 2 cousins: An atypical and a typical case of abetalipoproteinemia. (27578136)
2016
2
Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia. (26086616)
2015
3
Macular atrophy in a case of abetalipoproteinemia as only ocular clinical feature. (26040232)
2015
4
Fat accumulation in enterocytes: a key to the diagnosis of abetalipoproteinemia or homozygous hypobetalipoproteinemia. (26062159)
2015
5
Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal I^-Barrel in Microsomal Triglyceride Transfer Protein Function. (26224785)
2015
6
Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia. (24139731)
2014
7
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia. (23043934)
2013
8
Inhibitory effects of in vivo oxidized high-density lipoproteins on platelet aggregation: evidence from patients with abetalipoproteinemia. (23507868)
2013
9
Knee pain: an unanticipated finding related to a rare genetic disorder--abetalipoproteinemia. (24170593)
2013
10
Abetalipoproteinemia in a Saudi infant. (21333248)
2011
11
Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function. (20592474)
2010
12
Endocrine function in abetalipoproteinemia: a study of a female patient of Greek origin. (15960365)
2004
13
Rickets as an unusual initial presentation of abetalipoproteinemia and hypobetalipoproteinemia. (11308051)
2001
14
The role of the microsomal triglygeride transfer protein in abetalipoproteinemia. (10940349)
2000
15
Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene. (10446076)
1999
16
Pathological case of the month. Abetalipoproteinemia (Bassen-Kornzweig syndrome). (9412607)
1997
17
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
18
Translocation of apolipoprotein B across the endoplasmic reticulum is blocked in abetalipoproteinemia. (8808765)
1996
19
Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. (8533758)
1995
20
The abetalipoproteinemia gene is a member of the vitellogenin family and encodes an alpha-helical domain. (7664034)
1994
21
The molecular basis of abetalipoproteinemia. (8044420)
1994
22
Abetalipoproteinemia presenting with congestive cardiac failure. (7896372)
1994
23
Abetalipoproteinemia. New insights into lipoprotein assembly and vitamin E metabolism from a rare genetic disease. (8340987)
1993
24
Histochemical and ultrastructural pathology of skeletal muscle in a patient with abetalipoproteinemia. (8310805)
1993
25
Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein. (8111381)
1993
26
Genetic analysis of a Japanese family with normotriglyceridemic abetalipoproteinemia indicates a lack of linkage to the apolipoprotein B gene. (1731805)
1992
27
In vivo evidence for cholesterol ester and triglyceride exchange between high density lipoprotein and infused triglyceride rich particles in abetalipoproteinemia. (3223418)
1988
28
Abetalipoproteinemia or Bassen-Kornzweig syndrome. Clinical, biochemical and electrophysiological features of two cases. (3206997)
1988
29
Abetalipoproteinemia associated with hepatic and atypical neurological disorders. (3694376)
1987
30
Confusing reporting in abetalipoproteinemia. (3631927)
1987
31
Angioid streaks associated with abetalipoproteinemia. Case report. (3632434)
1987
32
The influence of plasma lipoproteins from patients with abetalipoproteinemia on cellular cholesterol esterification. (3689473)
1987
33
Epitopes of apolipoprotein B-100 and B-48 in both liver and intestine. Expression and evidence for local synthesis in recessive abetalipoproteinemia. (2429992)
1986
34
Vitamin E deficiency in neuropathy of abetalipoproteinemia. (3012411)
1986
35
Normotriglyceridemic abetalipoproteinemia in infancy: an isolated apolipoprotein B-100 deficiency. (3975124)
1985
36
Abetalipoproteinemia and metastatic spinal cord glioblastoma. (6326713)
1984
37
Vitamin A and vitamin E replacement in abetalipoproteinemia. (6691669)
1984
38
Electrophysiological studies in five cases of abetalipoproteinemia. (6704795)
1984
39
Regulation of low density lipoprotein receptors by plasma lipoproteins from patients with abetalipoproteinemia. (6304711)
1983
40
Lipoprotein lipase and hepatic lipase activity after heparin administration in abetalipoproteinemia and hypobetalipoproteinemia. (6888269)
1983
41
Corticosteroid production in abetalipoproteinemia: evidence for an impaired response ACTH. (6283000)
1982
42
Importance of cholesterol-phospholipid interaction in determining dynamics of normal and abetalipoproteinemia red blood cell membrane. (6168375)
1981
43
Abetalipoproteinemia-a case report. (6973052)
1981
44
The neuropathy of abetalipoproteinemia. (6153056)
1980
45
Sterol balance in abetalipoproteinemia: studies in a patient with homozygous familial hypobetalipoproteinemia. (491973)
1979
46
Abetalipoproteinemia and the eye. (782598)
1976
47
A study of the abnormal lipoproteins in abetalipoproteinemia. (11344558)
1974
48
Abetalipoproteinemia. (4719023)
1973
49
Peroxidative hemolysis of red blood cells from patients with abetalipoproteinemia (acanthocytosis). (6023771)
1967
50
The lipoproteins and lipid transport in abetalipoproteinemia. (4957009)
1966

Variations for Abetalipoproteinemia

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UniProtKB/Swiss-Prot genetic disease variations for Abetalipoproteinemia:

68
id Symbol AA change Variation ID SNP ID
1MTTPp.Arg540HisVAR_010642rs199422220
2MTTPp.Ser590IleVAR_010643rs199422222
3MTTPp.Gly746GluVAR_010644rs767833468
4MTTPp.Asn780TyrVAR_014019rs199422221
5MTTPp.Asp169ValVAR_074553
6MTTPp.Leu435HisVAR_074555
7MTTPp.Tyr528HisVAR_074556
8MTTPp.Arg540CysVAR_074557rs372321643

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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Pathways related to Abetalipoproteinemia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.6APOA1, APOB
2
Show member pathways
9.5HADHA, LPL
3
Show member pathways
9.5APOA1, APOE
49.3APOA1, APOB, MTTP
5
Show member pathways
9.2APOA1, APOB, APOE
6
Show member pathways
8.8APOA1, APOB, APOE, LPL
7
Show member pathways
8.8APOA1, APOB, APOE, LPL
8
Show member pathways
7.3APOA1, APOB, APOE, CETP, LCAT, LPL
9
Show member pathways
6.9APOA1, APOB, APOE, CETP, LCAT, LPL
10
Show member pathways
6.4APOA1, APOB, APOE, CETP, HADHA, LCAT

GO Terms for genes affiliated with Abetalipoproteinemia

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

(show all 13)
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
5early endosomeGO:00057699.6APOA1, APOB, APOE
6chylomicronGO:00426279.5APOA1, APOB, APOE, LPL
7very-low-density lipoprotein particleGO:00343619.5APOA1, APOB, APOE, LPL
8endoplasmic reticulum lumenGO:00057889.3APOA1, APOB, MTTP, P4HB
9extracellular matrixGO:00310129.1APOE, HADHA, LPL, P4HB
10high-density lipoprotein particleGO:00343649.0APOA1, APOE, CETP, LCAT
11extracellular spaceGO:00056157.3APOA1, APOB, APOE, CETP, LCAT, LPL
12extracellular exosomeGO:00700627.2APOA1, APOB, APOE, CETP, LCAT, LPL
13extracellular regionGO:00055767.1APOA1, APOB, APOE, CETP, LCAT, LPL

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

(show all 36)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of cholesterol storageGO:001088610.3APOB, LPL
2lipoprotein transportGO:004295310.2APOB, MTTP
3lipoprotein catabolic processGO:004215910.2APOB, APOE
4artery morphogenesisGO:004884410.2APOB, APOE
5positive regulation of macrophage derived foam cell differentiationGO:001074410.1APOB, LPL
6regulation of Cdc42 protein signal transductionGO:003248910.1APOA1, APOE
7positive regulation of cholesterol esterificationGO:001087310.1APOA1, APOE
8phospholipid effluxGO:003370010.1APOA1, APOE
9high-density lipoprotein particle clearanceGO:003438410.1APOA1, APOE
10high-density lipoprotein particle assemblyGO:003438010.1APOA1, APOE
11neuron projection regenerationGO:003110210.1APOA1, APOE
12phosphatidylcholine biosynthetic processGO:000665610.0APOA1, LCAT
13response to reactive oxygen speciesGO:000030210.0APOE, P4HB
14vitamin transportGO:00511809.9APOA1, TTPA
15triglyceride transportGO:00341979.8CETP, MTTP
16phosphatidylcholine metabolic processGO:00464709.8CETP, LCAT
17cholesterol effluxGO:00333449.7APOA1, APOB, APOE
18lipid homeostasisGO:00550889.6APOE, CETP
19phospholipid metabolic processGO:00066449.6APOA1, LCAT, LPL
20phospholipid homeostasisGO:00550919.6APOA1, CETP
21low-density lipoprotein particle remodelingGO:00343749.4APOB, APOE, CETP
22phospholipid transportGO:00159149.3APOA1, CETP, MTTP
23triglyceride homeostasisGO:00703289.2APOA1, CETP, LPL
24triglyceride catabolic processGO:00194339.0APOA1, APOB, APOE, LPL
25lipid metabolic processGO:00066299.0APOB, APOE, MTTP, TTPA
26cholesterol transportGO:00303018.9APOA1, APOB, CETP, LCAT
27very-low-density lipoprotein particle remodelingGO:00343728.9APOE, CETP, LCAT, LPL
28retinoid metabolic processGO:00015238.8APOA1, APOB, APOE, LPL
29high-density lipoprotein particle remodelingGO:00343758.8APOA1, APOE, CETP, LCAT
30lipoprotein biosynthetic processGO:00421588.7APOA1, APOB, APOE, LCAT, MTTP, P4HB
31reverse cholesterol transportGO:00436918.7APOA1, APOE, CETP, LCAT
32triglyceride metabolic processGO:00066418.7APOE, CETP, LPL, MTTP
33receptor-mediated endocytosisGO:00068988.4APOA1, APOB, APOE, CETP
34cholesterol metabolic processGO:00082038.1APOA1, APOB, APOE, CETP, LCAT
35lipoprotein metabolic processGO:00421577.7APOA1, APOB, APOE, CETP, LCAT, LPL
36cholesterol homeostasisGO:00426327.4APOA1, APOB, APOE, CETP, LCAT, LPL

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein bindingGO:003418510.3LPL, MTTP
2phosphatidylcholine-sterol O-acyltransferase activator activityGO:006022810.1APOA1, APOE
3lipoprotein particle bindingGO:007181310.0APOA1, APOE
4triglyceride bindingGO:00171299.7CETP, LPL
5low-density lipoprotein particle receptor bindingGO:00507509.6APOB, APOE
6phosphatidylcholine bindingGO:00312109.6APOA1, CETP
7heparin bindingGO:00082019.5APOB, APOE, LPL
8beta-amyloid bindingGO:00015409.5APOA1, APOE
9phospholipid bindingGO:00055439.3APOA1, APOB, APOE
10phospholipid transporter activityGO:00055489.2APOA1, CETP, MTTP
11cholesterol bindingGO:00154859.1APOA1, APOE, CETP
12lipid transporter activityGO:00053198.8APOA1, APOE, CETP, MTTP
13cholesterol transporter activityGO:00171278.8APOA1, APOB, APOE, CETP
14lipid bindingGO:00082898.1APOA1, APOB, APOE, CETP, MTTP

Sources for Abetalipoproteinemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet