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, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Abetalipoproteinemia:

Name: Abetalipoproteinemia 52 11 48 24 25 54 70 27 12 50 39 13 68
Familial Hypobetalipoproteinemia 11 48 25 68
Acanthocytosis 25 70 27 68
Microsomal Triglyceride Transfer Protein Deficiency Disease 11 48 25
Abetalipoproteinemia Neuropathy 48 25 68
Abl 48 24 70
Microsomal Triglyceride Transfer Protein Deficiency 48 70
Congenital Betalipoprotein Deficiency Syndrome 48 25
Homozygous Familial Hypobetalipoproteinemia 48 54
Betalipoprotein Deficiency Disease 48 25
 
Apolipoprotein B Deficiency 48 25
Bassen-Kornzweig Syndrome 25 70
Bassen-Kornzweig Disease 48 54
Mtp Deficiency 48 70
Fhbl 48 25
Hypobetalipoproteinemia, Familial, Apolipoprotein B 68
Hypobetalipoproteinemia, Familial 48
Bassen Kornzweig Syndrome 48
Hypobetalipoproteinemias 68
Hypobetalipoproteinemia 25

Characteristics:

Orphanet epidemiological data:

54
abetalipoproteinemia:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

64
abetalipoproteinemia:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 200100
Disease Ontology11 DOID:1386
ICD1030 E78.6
MeSH39 D000012
NCIt45 C84525
SNOMED-CT62 190787008, 83123000
Orphanet54 ORPHA14
MESH via Orphanet40 D000012
UMLS via Orphanet69 C0000744
ICD10 via Orphanet31 E78.6
MedGen37 C0000744

Summaries for Abetalipoproteinemia

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NIH Rare Diseases:48 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 Increased LDL uptake and Decreased free cholesterol.

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:70 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:52 Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL; 615558) are rare diseases characterized by... (200100) more...

Wikipedia:71 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 & Phenotypes for Abetalipoproteinemia

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Symptoms by clinical synopsis from OMIM:

200100

Clinical features from OMIM:

200100

Human phenotypes related to Abetalipoproteinemia:

 64 54 (show all 15)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malabsorption64 54 hallmark (90%) Very frequent (99-80%) HP:0002024
2 muscular hypotonia64 54 typical (50%) Frequent (79-30%) HP:0001252
3 reduced tendon reflexes64 54 typical (50%) Frequent (79-30%) HP:0001315
4 incoordination64 typical (50%) HP:0002311
5 abnormality of retinal pigmentation64 54 typical (50%) Frequent (79-30%) HP:0007703
6 abnormality of movement64 54 typical (50%) Frequent (79-30%) HP:0100022
7 visual impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0000505
8 retinopathy64 HP:0000488
9 pigmentary retinal degeneration64 HP:0001146
10 ataxia64 54 Frequent (79-30%) HP:0001251
11 acanthocytosis64 HP:0001927
12 fat malabsorption64 HP:0002630
13 cns demyelination64 HP:0007305
14 abetalipoproteinemia64 HP:0008181
15 peripheral demyelination64 HP:0011096

UMLS symptoms related to Abetalipoproteinemia:


ataxia

GenomeRNAi Phenotypes related to Abetalipoproteinemia according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00340-A-110.3APOA1, APOE, LPL
2GR00340-A-29.7APOA1, APOB, APOE, CETP, LPL

MGI Mouse Phenotypes related to Abetalipoproteinemia according to GeneCards Suite gene sharing:

41
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

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 Abetalipoproteinemia27 24 MTTP
2 Acanthocytosis27

Anatomical Context for Abetalipoproteinemia

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MalaCards organs/tissues related to Abetalipoproteinemia:

36
Eye, Liver, Skeletal muscle, Spinal cord, Brain

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
Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects. (27487388)
2016
3
Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia. (26086616)
2015
4
Macular atrophy in a case of abetalipoproteinemia as only ocular clinical feature. (26040232)
2015
5
Fat accumulation in enterocytes: a key to the diagnosis of abetalipoproteinemia or homozygous hypobetalipoproteinemia. (26062159)
2015
6
Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal I^-Barrel in Microsomal Triglyceride Transfer Protein Function. (26224785)
2015
7
A Male Infant with Abetalipoproteinemia: A Case Report from Iran. (26396722)
2015
8
Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia. (25763510)
2015
9
Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia. (24139731)
2014
10
Hypobetalipoproteinemia and abetalipoproteinemia. (24751931)
2014
11
A successful spontaneous pregnancy in abetalipoproteinemia: Amsterdam or the art of vitamin replacement? (25488886)
2014
12
Clinical, hematological, and imaging observations in a 25-year-old woman with abetalipoproteinemia. (24753676)
2014
13
Novel missense MTTP gene mutations causing abetalipoproteinemia. (25108285)
2014
14
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia. (23043934)
2013
15
Inhibitory effects of in vivo oxidized high-density lipoproteins on platelet aggregation: evidence from patients with abetalipoproteinemia. (23507868)
2013
16
Knee pain: an unanticipated finding related to a rare genetic disorder--abetalipoproteinemia. (24170593)
2013
17
Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. (24288038)
2013
18
Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene. (23556456)
2013
19
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia. (23475612)
2013
20
Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia. (22150066)
2012
21
Deep brain stimulation for the treatment of tremor and ataxia associated with abetalipoproteinemia. (23440258)
2012
22
Chronic adrenal failure and hypergonadotropic hypogonadism in a patient with abetalipoproteinemia. (23090820)
2012
23
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia. (22236406)
2012
24
Ataxia with vitamin E deficiency and abetalipoproteinemia. (21827896)
2012
25
Abetalipoproteinemia in a Saudi infant. (21333248)
2011
26
Red cells in abetalipoproteinemia. (21534356)
2011
27
A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP). (21394827)
2011
28
Disc swelling in abetalipoproteinemia: a novel feature of Bassen-Kornzweig syndrome. (21484752)
2011
29
Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia. (21502686)
2011
30
Rickets and dysmorphic findings in a child with abetalipoproteinemia. (21484009)
2011
31
Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function. (20592474)
2010
32
Abetalipoproteinemia in an infant with severe clinical phenotype and a novel mutation. (20402070)
2010
33
Rickets and dysmorphic findings in a child with abetalipoproteinemia. (20953537)
2010
34
Morphological diagnosis of abetalipoproteinemia and the importance of a freshly prepared peripheral smear. (19552676)
2009
35
Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia. (19056372)
2009
36
Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases. (19066957)
2009
37
Abetalipoproteinemia complicating the puerperium. (18239027)
2008
38
Maternal abetalipoproteinemia resulting in multiple fetal anomalies. (18784430)
2008
39
Abetalipoproteinemia: two case reports and literature review. (18611256)
2008
40
Abetalipoproteinemia. (18367944)
2008
41
Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient. (17275380)
2007
42
Abetalipoproteinemia induced by overexpression of ORP150 in mice. (17605339)
2007
43
Fat-soluble vitamin deficiency in pregnancy: a case report and review of abetalipoproteinemia. (17022912)
2006
44
Autopsy case of Dubin-Johnson syndrome with pneumonia and abetalipoproteinemia-like lipid profile. (16835471)
2006
45
Abetalipoproteinemia: importance of the peripheral blood smear. (15765527)
2005
46
Endocrine function in abetalipoproteinemia: a study of a female patient of Greek origin. (15960365)
2004
47
The c.419-420insA in the MTP gene is associated with abetalipoproteinemia among French-Canadians. (14741197)
2004
48
Oxidative stress in abetalipoproteinemia patients receiving long-term vitamin E and vitamin A supplementation. (14749227)
2004
49
Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia. (12630961)
2003
50
Abetalipoproteinemia-like lipid profile and acanthocytosis in a young woman with anorexia nervosa. (12449451)
2002

Variations for Abetalipoproteinemia

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UniProtKB/Swiss-Prot genetic disease variations for Abetalipoproteinemia:

70
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
1endocytic vesicle lumenGO:007168210.4APOA1, APOB, APOE
2intermediate-density lipoprotein particleGO:003436310.3APOB, APOE
3low-density lipoprotein particleGO:003436210.3APOB, APOE
4endoplasmic reticulum lumenGO:000578810.2APOA1, APOB, MTTP, P4HB
5chylomicronGO:004262710.1APOA1, APOB, APOE, LPL
6extracellular matrixGO:00310129.9APOE, HADHA, LPL, P4HB
7endoplasmic reticulumGO:00057839.7APOB, APOE, HADHB, MTTP, P4HB
8high-density lipoprotein particleGO:00343649.6APOA1, APOE, CETP, LCAT
9very-low-density lipoprotein particleGO:00343619.3APOA1, APOB, APOE, LPL
10extracellular exosomeGO:00700628.5APOA1, APOB, APOE, CETP, HADHB, LCAT
11extracellular spaceGO:00056158.5APOA1, APOB, APOE, CETP, IGF1, LCAT
12extracellular regionGO:00055767.7APOA1, APOB, APOE, CETP, IGF1, LCAT

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

(show all 39)
idNameGO IDScoreTop Affiliating Genes
1lipoprotein transportGO:004295310.7APOB, MTTP
2artery morphogenesisGO:004884410.7APOB, APOE
3lipoprotein catabolic processGO:004215910.6APOB, APOE
4positive regulation of cholesterol storageGO:001088610.6APOB, LPL
5positive regulation of macrophage derived foam cell differentiationGO:001074410.6APOB, LPL
6high-density lipoprotein particle assemblyGO:003438010.5APOA1, APOE
7high-density lipoprotein particle clearanceGO:003438410.5APOA1, APOE
8phosphatidylcholine biosynthetic processGO:000665610.5APOA1, LCAT
9neuron projection regenerationGO:003110210.5APOA1, APOE
10phospholipid effluxGO:003370010.5APOA1, APOE
11positive regulation of cholesterol esterificationGO:001087310.5APOA1, APOE
12phosphatidylcholine metabolic processGO:004647010.5CETP, LCAT
13regulation of Cdc42 protein signal transductionGO:003248910.4APOA1, APOE
14phospholipid homeostasisGO:005509110.4APOA1, CETP
15ERK1 and ERK2 cascadeGO:007037110.3APOA1, IGF1
16cholesterol effluxGO:003334410.3APOA1, APOB, APOE
17cardiolipin acyl-chain remodelingGO:003596510.2HADHA, HADHB
18phospholipid metabolic processGO:000664410.2APOA1, LCAT, LPL
19low-density lipoprotein particle remodelingGO:003437410.2APOB, APOE, CETP
20phospholipid transportGO:001591410.1APOA1, CETP, MTTP
21triglyceride transportGO:003419710.1CETP, MTTP
22lipid metabolic processGO:000662910.0APOB, APOE, MTTP, TTPA
23cholesterol transportGO:00303019.9APOA1, APOB, CETP, LCAT
24triglyceride homeostasisGO:00703289.9APOA1, CETP, LPL
25high-density lipoprotein particle remodelingGO:00343759.9APOA1, APOE, CETP, LCAT
26response to nutrientGO:00075849.8APOA1, IGF1, TTPA
27retinoid metabolic processGO:00015239.8APOA1, APOB, APOE, LPL
28receptor-mediated endocytosisGO:00068989.8APOA1, APOB, APOE, CETP
29triglyceride catabolic processGO:00194339.8APOA1, APOB, APOE, LPL
30vitamin transportGO:00511809.8APOA1, TTPA
31regulation of multicellular organism growthGO:00400149.7IGF1, PRL
32reverse cholesterol transportGO:00436919.7APOA1, APOE, CETP, LCAT
33cholesterol metabolic processGO:00082039.6APOA1, APOB, APOE, CETP, LCAT
34triglyceride metabolic processGO:00066419.5APOE, CETP, LPL, MTTP
35cellular protein metabolic processGO:00442679.5APOA1, IGF1, PRL
36lipoprotein biosynthetic processGO:00421589.5APOA1, APOB, APOE, LCAT, MTTP, P4HB
37very-low-density lipoprotein particle remodelingGO:00343729.3APOE, CETP, LCAT, LPL
38cholesterol homeostasisGO:00426329.0APOA1, APOB, APOE, CETP, LCAT, LPL
39lipoprotein metabolic processGO:00421579.0APOA1, APOB, APOE, CETP, LCAT, LPL

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein bindingGO:003418510.6LPL, MTTP
2low-density lipoprotein particle receptor bindingGO:005075010.5APOB, APOE
3lipoprotein particle bindingGO:007181310.4APOA1, APOE
4phosphatidylcholine-sterol O-acyltransferase activator activityGO:006022810.4APOA1, APOE
5phosphatidylcholine bindingGO:003121010.3APOA1, CETP
6heparin bindingGO:000820110.2APOB, APOE, LPL
73-hydroxyacyl-CoA dehydrogenase activityGO:000385710.2HADHA, HADHB
8acetyl-CoA C-acyltransferase activityGO:000398810.2HADHA, HADHB
9enoyl-CoA hydratase activityGO:000430010.2HADHA, HADHB
10cholesterol bindingGO:001548510.1APOA1, APOE, CETP
11long-chain-3-hydroxyacyl-CoA dehydrogenase activityGO:001650910.1HADHA, HADHB
12phospholipid bindingGO:00055439.9APOA1, APOB, APOE
13cholesterol transporter activityGO:00171279.8APOA1, APOB, APOE, CETP
14triglyceride bindingGO:00171299.7CETP, LPL
15lipid transporter activityGO:00053199.7APOA1, APOE, CETP, MTTP
16lipid bindingGO:00082899.5APOA1, APOB, APOE, CETP, MTTP
17phospholipid transporter activityGO:00055489.4APOA1, CETP, MTTP

Sources for Abetalipoproteinemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet