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:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Abetalipoproteinemia:

Name: Abetalipoproteinemia 51 11 47 24 25 53 69 26 12 49 38 13 67
Familial Hypobetalipoproteinemia 11 47 25 67
Acanthocytosis 25 69 26 67
Microsomal Triglyceride Transfer Protein Deficiency Disease 11 47 25
Abetalipoproteinemia Neuropathy 47 25 67
Abl 47 24 69
Microsomal Triglyceride Transfer Protein Deficiency 47 69
Congenital Betalipoprotein Deficiency Syndrome 47 25
Homozygous Familial Hypobetalipoproteinemia 47 53
Betalipoprotein Deficiency Disease 47 25
 
Apolipoprotein B Deficiency 47 25
Bassen-Kornzweig Syndrome 25 69
Bassen-Kornzweig Disease 47 53
Mtp Deficiency 47 69
Fhbl 47 25
Hypobetalipoproteinemia, Familial, Apolipoprotein B 67
Hypobetalipoproteinemia, Familial 47
Bassen Kornzweig Syndrome 47
Hypobetalipoproteinemias 67
Hypobetalipoproteinemia 25

Characteristics:

Orphanet epidemiological data:

53
abetalipoproteinemia:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

63
abetalipoproteinemia:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 200100
Disease Ontology11 DOID:1386
ICD1029 E78.6
MeSH38 D000012
NCIt44 C84525
SNOMED-CT61 190787008, 83123000
Orphanet53 ORPHA14
MESH via Orphanet39 D000012
UMLS via Orphanet68 C0000744
ICD10 via Orphanet30 E78.6
MedGen36 C0000744

Summaries for Abetalipoproteinemia

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NIH Rare Diseases:47 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 trifunctional protein deficiency, 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 Fat digestion and absorption. Affiliated tissues include eye, liver and skeletal muscle, and related mouse phenotypes are muscle and cardiovascular 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 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).

UniProtKB/Swiss-Prot:69 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.

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

Wikipedia:70 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 101)
idRelated DiseaseScoreTop Affiliating Genes
1hypobetalipoproteinemia31.6APOB, APOE, LCAT, MTTP, SAR1B
2trifunctional protein deficiency30.8HADHA, HADHB
3choreoacanthocytosis12.0
4harp syndrome11.7
5atypical chronic myeloid leukemia11.6
6leukemia, chronic myeloid, somatic11.3
7rhabdomyosarcoma10.8
8chronic neutrophilic leukemia10.8
9hypobetalipoproteinemia, familial, 210.8
10infertility10.7
11leukemia10.7
12spinal muscular atrophy-110.6
13male infertility10.6
14spinal muscular atrophy10.6
15dysmorphism-pectus carinatum-joint laxity syndrome10.6APOB, APOE
16dermal unilateral segmental cavernous angioma10.6APOB, APOE
17hypercholesterolemia, due to ligand-defective apo b10.5APOB, APOE
18lipoprotein glomerulopathy10.5APOE, LCAT
19atp1a3-related neurologic disorders10.5APOE, LPL
20intellectual disability-developmental delay-contractures syndrome10.5APOA1, LCAT
21casr-related disorders10.5APOB, APOE
22c1s deficiency10.5APOE, LPL
23tyrosinemia, type ii10.5APOA1, LCAT
24shwachman-diamond type metaphyseal dysplasia10.5APOA1, APOB
25hemiplegia alterans10.4APOE, PRL
26degos 'en cocarde' erythrokeratoderma10.4APOB, APOE, LCAT
27alzheimer disease 19, late onset10.4APOB, APOE, LCAT
28blue toe syndrome10.3APOB, LCAT, LPL
29legg-calve-perthes disease10.3APOA1, APOB
30glossopharyngeal nerve neoplasm10.3APOA1, APOB, APOE
31amelogenesis imperfecta, type iia310.2APOA1, APOE, LPL
32iron metabolism disease10.2APOA1, APOB, APOE
33littre gland carcinoma10.2APOA1, APOB, APOE
34fibrosclerosis of breast10.2IGF1, PRL
35central retinal vein occlusion10.2IGF1, PRL
36autoimmune hepatitis10.2APOA1, APOB, APOE
37hyperinsulinemic hypoglycemia, familial, 410.2HADHA, MTTP
38hypothryoidism, congenital, nongoitrous 410.2IGF1, PRL
39angiomatous meningioma10.2APOB, IGF1, LPL
40pyelonephritis10.1APOB, APOE, CETP
41immune system organ benign neoplasm10.1IGF1, PRL
42osseous heteroplasia, progressive10.1IGF1, PRL
43lactose intolerance10.1LPL, SAR1B
44bladder diverticulum10.1APOA1, APOB, APOE, LCAT
45central nervous system disease10.1
46nervous system disease10.1
47hyperlipidemia, familial combined10.1APOA1, APOB, LCAT, LPL
48peripheral degeneration of cornea10.0APOB, APOE, HADHA
49islet cell tumor10.0APOA1, APOB, APOE, LPL
50peripheral artery disease10.0APOA1, APOB, APOE, LCAT

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

Human phenotypes related to Abetalipoproteinemia:

 63 53 (show all 15)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malabsorption63 53 hallmark (90%) Very frequent (99-80%) HP:0002024
2 muscular hypotonia63 53 typical (50%) Frequent (79-30%) HP:0001252
3 reduced tendon reflexes63 53 typical (50%) Frequent (79-30%) HP:0001315
4 incoordination63 typical (50%) HP:0002311
5 abnormality of retinal pigmentation63 53 typical (50%) Frequent (79-30%) HP:0007703
6 abnormality of movement63 53 typical (50%) Frequent (79-30%) HP:0100022
7 visual impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0000505
8 retinopathy63 HP:0000488
9 pigmentary retinal degeneration63 HP:0001146
10 ataxia63 53 Frequent (79-30%) HP:0001251
11 acanthocytosis63 HP:0001927
12 fat malabsorption63 HP:0002630
13 cns demyelination63 HP:0007305
14 abetalipoproteinemia63 HP:0008181
15 peripheral demyelination63 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):

(show all 13)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Vitamin Eapproved, nutraceutical, vet_approvedPhase 240659-02-914985
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
2Trace ElementsPhase 25802
3VitaminsPhase 25095
4AntioxidantsPhase 22928
5TocotrienolsPhase 2402
6MicronutrientsPhase 25802
7Protective AgentsPhase 27190
8TocopherolsPhase 2406
9TocotrienolNutraceuticalPhase 2402
10TocopherolNutraceuticalPhase 2406
11
Vitamin Aapproved, nutraceutical, vet_approved46811103-57-4, 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
12Retinol palmitate468
13retinolNutraceutical468

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 Abetalipoproteinemia26 24 MTTP
2 Acanthocytosis26

Anatomical Context for Abetalipoproteinemia

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MalaCards organs/tissues related to Abetalipoproteinemia:

35
Eye, Liver, Skeletal muscle, Spinal cord, Brain

Animal Models for Abetalipoproteinemia or affiliated genes

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MGI Mouse Phenotypes related to Abetalipoproteinemia:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.7APOB, APOE, HADHA, HADHB, IGF1, LPL
2MP:00053857.7APOA1, APOB, APOE, HADHA, HADHB, IGF1
3MP:00053707.6APOA1, APOB, APOE, HADHA, HADHB, LCAT
4MP:00053766.2APOA1, APOB, APOE, HADHA, HADHB, IGF1

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:

69
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 (show all 26)
id Gene Variation Type Significance SNP ID Assembly Location
1MTTPMTP, 1-BP DEL, 215CdeletionPathogenicChr na, -1: -1
2MTTPNM_000253.3(MTTP): c.1783C> T (p.Arg595Ter)SNVPathogenicrs199422219GRCh37Chr 4, 100532313: 100532313
3MTTPMTP, IVS, G-A, +5SNVPathogenicChr na, -1: -1
4MTTPMTP, IVS9AS, G-A, -1SNVPathogenicChr na, -1: -1
5MTTPNM_000253.3(MTTP): c.1619G> A (p.Arg540His)SNVPathogenicrs199422220GRCh37Chr 4, 100529984: 100529984
6MTTPMTP, EXON 10 DELdeletionPathogenicChr na, -1: -1
7MTTPNM_000253.3(MTTP): c.2338A> T (p.Asn780Tyr)SNVPathogenicrs199422221GRCh37Chr 4, 100540251: 100540251
8MTTPNM_000253.3(MTTP): c.1769G> T (p.Ser590Ile)SNVPathogenicrs199422222GRCh37Chr 4, 100530134: 100530134
9MTTPNM_000253.3(MTTP): c.2593G> T (p.Gly865Ter)SNVPathogenicrs146064714GRCh37Chr 4, 100543913: 100543913
10APOBNM_000384.2(APOB): c.5263_5266delAACA (p.Asn1755Valfs)deletionPathogenicrs281865425GRCh37Chr 2, 21234474: 21234477
11APOBNM_000384.2(APOB): c.5463delG (p.His1822Metfs)deletionPathogenicrs397514255GRCh37Chr 2, 21234277: 21234277
12APOBNM_000384.2(APOB): c.3997C> T (p.Arg1333Ter)SNVPathogenicrs121918383GRCh37Chr 2, 21236251: 21236251
13APOBNM_000384.2(APOB): c.5566_5567delGT (p.Val1856Cysfs)deletionPathogenicrs121918384GRCh37Chr 2, 21234173: 21234174
14APOBNM_000384.2(APOB): c.12181delG (p.Glu4061Argfs)deletionPathogenicrs121918385GRCh37Chr 2, 21226113: 21226113
15APOBAPOB, EX21DELdeletionPathogenicChr na, -1: -1
16APOBNM_000384.2(APOB): c.6253C> T (p.Arg2085Ter)SNVPathogenicrs121918386GRCh37Chr 2, 21233487: 21233487
17APOBNM_000384.2(APOB): c.11905delG (p.Glu3969Asnfs)deletionPathogenicrs387906569GRCh37Chr 2, 21227323: 21227323
18APOBNM_000384.2(APOB): c.4352delG (p.Gly1451Valfs)deletionPathogenicrs397514256GRCh37Chr 2, 21235388: 21235388
19APOBNM_000384.2(APOB): c.10580G> A (p.Arg3527Gln)SNVLikely pathogenic, Pathogenicrs5742904GRCh37Chr 2, 21229160: 21229160
20APOBNM_000384.2(APOB): c.9199delA (p.Lys3067Argfs)deletionPathogenicrs121918387GRCh37Chr 2, 21230541: 21230541
21APOBNM_000384.2(APOB): c.4429C> T (p.Gln1477Ter)SNVPathogenicrs121918389GRCh37Chr 2, 21235311: 21235311
22APOBNM_000384.2(APOB): c.7564C> T (p.Arg2522Ter)SNVPathogenicrs121918390GRCh37Chr 2, 21232176: 21232176
23APOBNM_000384.2(APOB): c.11712delC (p.Asn3904Lysfs)deletionPathogenicrs587776852GRCh37Chr 2, 21228028: 21228028
24APOBAPOB, IVS7AS, A-G, -2SNVPathogenicChr na, -1: -1
25APOBAPOB, 1-BP DEL, 4432TdeletionPathogenicChr na, -1: -1
26APOBNM_000384.2(APOB): c.905-1_905dupGGduplicationPathogenicrs606231236GRCh37Chr 2, 21256390: 21256391

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
19.9APOA1, APOB
2
Show member pathways
9.6APOA1, APOB, MTTP
3
Show member pathways
9.6APOA1, APOB, APOE
4
Show member pathways
9.3APOA1, APOB, APOE, LPL
5
Show member pathways
9.3APOA1, APOB, APOE, LPL
6
Show member pathways
9.2HADHA, HADHB, LPL
7
Show member pathways
8.3APOA1, APOB, APOE, CETP, LCAT, LPL
8
Show member pathways
7.4APOA1, APOB, APOE, CETP, LCAT, LPL
9
Show member pathways
6.5APOA1, APOB, APOE, CETP, HADHA, HADHB

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:003436310.7APOB, APOE
2low-density lipoprotein particleGO:003436210.7APOB, APOE
3endocytic vesicle lumenGO:007168210.3APOA1, APOB, APOE
4chylomicronGO:004262710.0APOA1, APOB, APOE, LPL
5very-low-density lipoprotein particleGO:003436110.0APOA1, APOB, APOE, LPL
6high-density lipoprotein particleGO:00343649.8APOA1, APOE, CETP, LCAT
7endoplasmic reticulum lumenGO:00057889.8APOA1, APOB, MTTP, P4HB
8extracellular matrixGO:00310129.5APOE, HADHA, LPL, P4HB
9endoplasmic reticulumGO:00057839.0APOB, APOE, HADHB, MTTP, P4HB
10extracellular spaceGO:00056158.0APOA1, APOB, APOE, CETP, IGF1, LCAT
11extracellular exosomeGO:00700627.8APOA1, APOB, APOE, CETP, HADHB, LCAT
12extracellular regionGO:00055767.1APOA1, APOB, APOE, CETP, IGF1, LCAT

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

(show all 39)
idNameGO IDScoreTop Affiliating Genes
1lipoprotein catabolic processGO:004215910.5APOB, APOE
2positive regulation of cholesterol esterificationGO:001087310.5APOA1, APOE
3phospholipid effluxGO:003370010.5APOA1, APOE
4high-density lipoprotein particle assemblyGO:003438010.5APOA1, APOE
5lipoprotein transportGO:004295310.5APOB, MTTP
6positive regulation of cholesterol storageGO:001088610.5APOB, LPL
7regulation of Cdc42 protein signal transductionGO:003248910.5APOA1, APOE
8high-density lipoprotein particle clearanceGO:003438410.5APOA1, APOE
9artery morphogenesisGO:004884410.5APOB, APOE
10neuron projection regenerationGO:003110210.4APOA1, APOE
11positive regulation of macrophage derived foam cell differentiationGO:001074410.4APOB, LPL
12phosphatidylcholine biosynthetic processGO:000665610.4APOA1, LCAT
13triglyceride transportGO:003419710.4CETP, MTTP
14vitamin transportGO:005118010.4APOA1, TTPA
15phosphatidylcholine metabolic processGO:004647010.3CETP, LCAT
16phospholipid homeostasisGO:005509110.3APOA1, CETP
17cholesterol effluxGO:003334410.2APOA1, APOB, APOE
18cardiolipin acyl-chain remodelingGO:003596510.1HADHA, HADHB
19phospholipid metabolic processGO:000664410.1APOA1, LCAT, LPL
20low-density lipoprotein particle remodelingGO:003437410.1APOB, APOE, CETP
21phospholipid transportGO:001591410.0APOA1, CETP, MTTP
22ERK1 and ERK2 cascadeGO:007037110.0APOA1, IGF1
23triglyceride homeostasisGO:00703289.9APOA1, CETP, LPL
24cholesterol transportGO:00303019.7APOA1, APOB, CETP, LCAT
25very-low-density lipoprotein particle remodelingGO:00343729.7APOE, CETP, LCAT, LPL
26high-density lipoprotein particle remodelingGO:00343759.7APOA1, APOE, CETP, LCAT
27reverse cholesterol transportGO:00436919.7APOA1, APOE, CETP, LCAT
28response to nutrientGO:00075849.6APOA1, IGF1, TTPA
29triglyceride metabolic processGO:00066419.6APOE, CETP, LPL, MTTP
30triglyceride catabolic processGO:00194339.6APOA1, APOB, APOE, LPL
31lipid metabolic processGO:00066299.5APOB, APOE, MTTP, TTPA
32lipoprotein biosynthetic processGO:00421589.4APOA1, APOB, APOE, LCAT, MTTP, P4HB
33retinoid metabolic processGO:00015239.4APOA1, APOB, APOE, LPL
34regulation of multicellular organism growthGO:00400149.1IGF1, PRL
35cholesterol metabolic processGO:00082039.1APOA1, APOB, APOE, CETP, LCAT
36cellular protein metabolic processGO:00442678.9APOA1, IGF1, PRL
37receptor-mediated endocytosisGO:00068988.9APOA1, APOB, APOE, CETP
38lipoprotein metabolic processGO:00421578.8APOA1, APOB, APOE, CETP, LCAT, LPL
39cholesterol homeostasisGO:00426328.6APOA1, APOB, APOE, CETP, LCAT, LPL

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1phosphatidylcholine-sterol O-acyltransferase activator activityGO:006022810.4APOA1, APOE
2apolipoprotein bindingGO:003418510.4LPL, MTTP
3lipoprotein particle bindingGO:007181310.3APOA1, APOE
4triglyceride bindingGO:001712910.2CETP, LPL
5phosphatidylcholine bindingGO:003121010.2APOA1, CETP
6acetyl-CoA C-acyltransferase activityGO:000398810.2HADHA, HADHB
7long-chain-3-hydroxyacyl-CoA dehydrogenase activityGO:001650910.1HADHA, HADHB
8enoyl-CoA hydratase activityGO:000430010.0HADHA, HADHB
9low-density lipoprotein particle receptor bindingGO:00507509.9APOB, APOE
10phospholipid transporter activityGO:00055489.9APOA1, CETP, MTTP
11cholesterol bindingGO:00154859.9APOA1, APOE, CETP
123-hydroxyacyl-CoA dehydrogenase activityGO:00038579.9HADHA, HADHB
13heparin bindingGO:00082019.8APOB, APOE, LPL
14phospholipid bindingGO:00055439.6APOA1, APOB, APOE
15cholesterol transporter activityGO:00171279.6APOA1, APOB, APOE, CETP
16lipid transporter activityGO:00053199.6APOA1, APOE, CETP, MTTP
17lipid bindingGO:00082898.6APOA1, APOB, APOE, CETP, MTTP

Sources for Abetalipoproteinemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet