ABL
MCID: ABT001
MIFTS: 60

Abetalipoproteinemia (ABL) malady

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

Aliases & Classifications for Abetalipoproteinemia

About this section
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 choreoacanthocytosis and harp syndrome, and has symptoms including ataxia, ataxia and ataxia. 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).

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...

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.

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 95)
idRelated DiseaseScoreTop Affiliating Genes
1choreoacanthocytosis12.0
2harp syndrome11.7
3atypical chronic myeloid leukemia11.6
4hypobetalipoproteinemia11.3
5leukemia, chronic myeloid, somatic11.3
6trifunctional protein deficiency10.8
7rhabdomyosarcoma10.8
8chronic neutrophilic leukemia10.8
9hypobetalipoproteinemia, familial, 210.8
10hypolipoproteinemia10.8
11pseudocholinesterase deficiency10.7
12leukemia10.7
13hartnup disorder10.6
14spinal muscular atrophy-110.6
15spinal muscular atrophy-310.6
16spinal muscular atrophy10.6
17zap-70 deficiency10.3APOB, APOE
18keratoconus 410.3APOB, APOE
19alport syndrome and thin basement membrane nephropathy10.3APOE, LPL
20arena syndrome10.3APOA1, LCAT
21lipoprotein glomerulopathy10.2APOE, LCAT
22tyrosinemia, type ii10.2APOA1, LCAT
23c1s deficiency10.2APOE, LPL
24pars planitis10.2APOA1, APOE
25dentinogenesis imperfecta type 210.2APOB, APOE, LCAT
26alzheimer disease 19, late onset10.2APOB, APOE, LCAT
27cataract 20, multiple types10.2APOB, LPL, MTTP
28severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome10.2APOB, APOE, LPL
29albinism, oculocutaneous, type v10.2APOA1, APOB, APOE
30familial progressive cardiac conduction defect10.2APOA1, APOE, LCAT
31branchiootorenal syndrome 1, with or without cataracts10.2APOB, TTPA
32primary pigmented nodular adrenocortical disease10.2APOA1, APOB, APOE
33optic nerve neoplasm10.1APOA1, APOB, APOE
34hyperchlorhidrosis, isolated10.1APOA1, APOE, LPL
35dyserythropoietic anemia, congenital, type ii10.1APOA1, APOE, LCAT
36myxofibrosarcoma10.1APOE, LPL
37cervix small cell carcinoma10.1APOA1, APOB, APOE
38immune-mediated encephalomyelitis10.1APOE, PRL
39myelophthisic anemia10.1APOA1, APOB, APOE
40dacryoadenitis10.1IGF1, PRL
41central nervous system disease10.1
42nervous system disease10.1
43joint disorders10.1APOA1, APOB, APOE, LPL
44bleeding disorder, east texas type10.0APOA1, APOB, APOE, LPL
45gait apraxia10.0APOA1, APOB, APOE, CETP
46pericarditis10.0APOA1, APOB, APOE, LPL
47fetal warfarin syndrome10.0APOA1, APOB, IGF1, LCAT
48mitochondrial complex iii deficiency, nuclear type 410.0APOA1, APOB, MTTP, SAR1B
49pituitary adenoma, acth-secreting10.0IGF1, PRL
50thymus adenosquamous carcinoma9.9APOA1, IGF1, 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:

 54 64 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment64 54 Occasional (29-5%) HP:0000505
2 ataxia64 54 Frequent (79-30%) HP:0001251
3 muscular hypotonia64 54 Frequent (79-30%) HP:0001252
4 reduced tendon reflexes64 54 Frequent (79-30%) HP:0001315
5 malabsorption64 54 Very frequent (99-80%) HP:0002024
6 abnormality of retinal pigmentation64 54 Frequent (79-30%) HP:0007703
7 abnormality of movement64 54 Frequent (79-30%) HP:0100022
8 retinopathy64 HP:0000488
9 pigmentary retinal degeneration64 HP:0001146
10 acanthocytosis64 HP:0001927
11 fat malabsorption64 HP:0002630
12 cns demyelination64 HP:0007305
13 abetalipoproteinemia64 HP:0008181
14 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:00053707.8APOA1, APOB, APOE, HADHA, HADHB, LCAT
2MP:00053697.4APOB, APOE, HADHA, HADHB, IGF1, LPL
3MP:00053857.3APOA1, APOB, APOE, HADHA, HADHB, IGF1
4MP:00053766.1APOA1, 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 241459-02-914985
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 26001
3VitaminsPhase 25282
4AntioxidantsPhase 23050
5TocotrienolsPhase 2410
6MicronutrientsPhase 26001
7Protective AgentsPhase 27443
8TocopherolsPhase 2414
9TocotrienolNutraceuticalPhase 2410
10TocopherolNutraceuticalPhase 2414
11
Vitamin Aapproved, nutraceutical, vet_approved49211103-57-4, 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 palmitate492
13retinolNutraceutical492

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
Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects. (27487388)
2016
2
A tale of 2 cousins: An atypical and a typical case of abetalipoproteinemia. (27578136)
2016
3
Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia. (26086616)
2015
4
A Male Infant with Abetalipoproteinemia: A Case Report from Iran. (26396722)
2015
5
Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal I^-Barrel in Microsomal Triglyceride Transfer Protein Function. (26224785)
2015
6
Fat accumulation in enterocytes: a key to the diagnosis of abetalipoproteinemia or homozygous hypobetalipoproteinemia. (26062159)
2015
7
Macular atrophy in a case of abetalipoproteinemia as only ocular clinical feature. (26040232)
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
Clinical, hematological, and imaging observations in a 25-year-old woman with abetalipoproteinemia. (24753676)
2014
11
A successful spontaneous pregnancy in abetalipoproteinemia: Amsterdam or the art of vitamin replacement? (25488886)
2014
12
Novel missense MTTP gene mutations causing abetalipoproteinemia. (25108285)
2014
13
Hypobetalipoproteinemia and abetalipoproteinemia. (24751931)
2014
14
Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. (24288038)
2013
15
Knee pain: an unanticipated finding related to a rare genetic disorder--abetalipoproteinemia. (24170593)
2013
16
Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene. (23556456)
2013
17
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia. (23475612)
2013
18
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia. (23043934)
2013
19
Inhibitory effects of in vivo oxidized high-density lipoproteins on platelet aggregation: evidence from patients with abetalipoproteinemia. (23507868)
2013
20
Chronic adrenal failure and hypergonadotropic hypogonadism in a patient with abetalipoproteinemia. (23090820)
2012
21
Deep brain stimulation for the treatment of tremor and ataxia associated with abetalipoproteinemia. (23440258)
2012
22
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia. (22236406)
2012
23
Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia. (22150066)
2012
24
Ataxia with vitamin E deficiency and abetalipoproteinemia. (21827896)
2012
25
Red cells in abetalipoproteinemia. (21534356)
2011
26
Rickets and dysmorphic findings in a child with abetalipoproteinemia. (21484009)
2011
27
Abetalipoproteinemia in a Saudi infant. (21333248)
2011
28
Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia. (21502686)
2011
29
A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP). (21394827)
2011
30
Disc swelling in abetalipoproteinemia: a novel feature of Bassen-Kornzweig syndrome. (21484752)
2011
31
Rickets and dysmorphic findings in a child with abetalipoproteinemia. (20953537)
2010
32
Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function. (20592474)
2010
33
Abetalipoproteinemia in an infant with severe clinical phenotype and a novel mutation. (20402070)
2010
34
Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia. (19056372)
2009
35
Morphological diagnosis of abetalipoproteinemia and the importance of a freshly prepared peripheral smear. (19552676)
2009
36
Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases. (19066957)
2009
37
Abetalipoproteinemia: two case reports and literature review. (18611256)
2008
38
Maternal abetalipoproteinemia resulting in multiple fetal anomalies. (18784430)
2008
39
Abetalipoproteinemia complicating the puerperium. (18239027)
2008
40
Abetalipoproteinemia. (18367944)
2008
41
Abetalipoproteinemia induced by overexpression of ORP150 in mice. (17605339)
2007
42
Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient. (17275380)
2007
43
Autopsy case of Dubin-Johnson syndrome with pneumonia and abetalipoproteinemia-like lipid profile. (16835471)
2006
44
Fat-soluble vitamin deficiency in pregnancy: a case report and review of abetalipoproteinemia. (17022912)
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
Oxidative stress in abetalipoproteinemia patients receiving long-term vitamin E and vitamin A supplementation. (14749227)
2004
48
The c.419-420insA in the MTP gene is associated with abetalipoproteinemia among French-Canadians. (14741197)
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 25)
id Gene Variation Type Significance SNP ID Assembly Location
1MTTPMTP, 1-BP DEL, 215CdeletionPathogenic
2MTTPNM_ 000253.3(MTTP): c.1783C> T (p.Arg595Ter)SNVPathogenicrs199422219GRCh37Chr 4, 100532313: 100532313
3MTTPMTP, IVS, G-A, +5SNVPathogenic
4MTTPMTP, IVS9AS, G-A, -1SNVPathogenic
5MTTPNM_ 000253.3(MTTP): c.1619G> A (p.Arg540His)SNVPathogenicrs199422220GRCh37Chr 4, 100529984: 100529984
6MTTPMTP, EXON 10 DELdeletionPathogenic
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, EX21DELdeletionPathogenic
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.9199delA (p.Lys3067Argfs)deletionPathogenicrs121918387GRCh37Chr 2, 21230541: 21230541
20APOBNM_ 000384.2(APOB): c.4429C> T (p.Gln1477Ter)SNVPathogenicrs121918389GRCh37Chr 2, 21235311: 21235311
21APOBNM_ 000384.2(APOB): c.7564C> T (p.Arg2522Ter)SNVPathogenicrs121918390GRCh37Chr 2, 21232176: 21232176
22APOBNM_ 000384.2(APOB): c.11712delC (p.Asn3904Lysfs)deletionPathogenicrs587776852GRCh37Chr 2, 21228028: 21228028
23APOBAPOB, IVS7AS, A-G, -2SNVPathogenic
24APOBAPOB, 1-BP DEL, 4432TdeletionPathogenic
25APOBNM_ 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:

(show all 11)
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
9.5HADHA, HADHB
59.5HADHA, HADHB
6
Show member pathways
9.3APOA1, APOB, APOE, LPL
7
Show member pathways
9.3APOA1, APOB, APOE, LPL
8
Show member pathways
9.2HADHA, HADHB, LPL
9
Show member pathways
8.4APOA1, APOB, APOE, CETP, LCAT, LPL
10
Show member pathways
7.6APOA1, APOB, APOE, CETP, LCAT, LPL
11
Show member pathways
6.6APOA1, 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 13)
idNameGO IDScoreTop Affiliating Genes
1endosome lumenGO:003190410.4APOB, PRL
2endocytic vesicle lumenGO:007168210.4APOA1, APOB, APOE
3chylomicronGO:004262710.1APOA1, APOB, APOE, LPL
4intermediate-density lipoprotein particleGO:003436310.0APOA1, APOB, APOE
5low-density lipoprotein particleGO:00343629.9APOA1, APOB, APOE
6extracellular matrixGO:00310129.9APOE, HADHA, LPL, P4HB
7endoplasmic reticulum lumenGO:00057889.9APOA1, APOB, APOE, MTTP, P4HB
8high-density lipoprotein particleGO:00343649.6APOA1, APOE, CETP, LCAT
9very-low-density lipoprotein particleGO:00343619.3APOA1, APOB, APOE, LPL
10endoplasmic reticulumGO:00057839.2APOB, APOE, HADHB, MTTP, P4HB, SAR1B
11extracellular exosomeGO:00700628.6APOA1, APOB, APOE, CETP, HADHB, LCAT
12extracellular spaceGO:00056158.3APOA1, APOB, APOE, CETP, IGF1, LCAT
13extracellular regionGO:00055767.6APOA1, APOB, APOE, CETP, IGF1, LCAT

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

(show all 49)
idNameGO IDScoreTop Affiliating Genes
1lipoprotein transportGO:004295310.8APOB, MTTP
2artery morphogenesisGO:004884410.7APOB, APOE
3chylomicron remnant clearanceGO:003438210.7APOB, APOE
4lipoprotein catabolic processGO:004215910.7APOB, APOE
5positive regulation of cholesterol storageGO:001088610.7APOB, LPL
6positive regulation of macrophage derived foam cell differentiationGO:001074410.7APOB, LPL
7high-density lipoprotein particle assemblyGO:003438010.6APOA1, APOE
8high-density lipoprotein particle clearanceGO:003438410.6APOA1, APOE
9neuron projection regenerationGO:003110210.6APOA1, APOE
10phospholipid effluxGO:003370010.6APOA1, APOE
11positive regulation of cholesterol esterificationGO:001087310.6APOA1, APOE
12phosphatidylcholine metabolic processGO:004647010.6CETP, LCAT
13regulation of Cdc42 protein signal transductionGO:003248910.6APOA1, APOE
14lipid homeostasisGO:005508810.6APOE, CETP
15phospholipid homeostasisGO:005509110.5APOA1, CETP
16cholesterol effluxGO:003334410.4APOA1, APOB, APOE
17low-density lipoprotein particle remodelingGO:003437410.3APOB, APOE, CETP
18phospholipid metabolic processGO:000664410.3APOA1, LCAT, LPL
19cardiolipin acyl-chain remodelingGO:003596510.3HADHA, HADHB
20phospholipid transportGO:001591410.3APOA1, CETP, MTTP
21triglyceride transportGO:003419710.3CETP, MTTP
22very-low-density lipoprotein particle clearanceGO:003444710.2APOB, APOE
23ERK1 and ERK2 cascadeGO:007037110.1APOA1, IGF1
24post-translational protein modificationGO:004368710.1APOA1, APOB, APOE, P4HB
25very-low-density lipoprotein particle assemblyGO:003437910.0APOB, MTTP, P4HB
26chylomicron remodelingGO:003437110.0APOA1, APOB, APOE, LPL
27cholesterol transportGO:003030110.0APOA1, APOB, CETP, LCAT
28retinoid metabolic processGO:000152310.0APOA1, APOB, APOE, LPL
29receptor-mediated endocytosisGO:000689810.0APOA1, APOB, APOE, CETP
30high-density lipoprotein particle remodelingGO:003437510.0APOA1, APOE, CETP, LCAT
31reverse cholesterol transportGO:00436919.9APOA1, APOE, CETP, LCAT
32chylomicron assemblyGO:00343789.8APOA1, APOB, APOE, MTTP, P4HB
33response to nutrientGO:00075849.8APOA1, PRL, TTPA
34regulation of multicellular organism growthGO:00400149.8IGF1, PRL
35triglyceride catabolic processGO:00194339.8APOA1, APOB, APOE, LPL
36lipid transportGO:00068699.7APOA1, APOB, APOE, CETP, MTTP
37vitamin transportGO:00511809.7APOA1, TTPA
38cholesterol metabolic processGO:00082039.7APOA1, APOB, APOE, CETP, LCAT
39steroid metabolic processGO:00082029.7APOA1, APOB, APOE, CETP, LCAT
40triglyceride metabolic processGO:00066419.6APOE, CETP, LPL, MTTP
41triglyceride homeostasisGO:00703289.6APOA1, APOE, CETP, LPL
42lipoprotein biosynthetic processGO:00421589.6APOA1, APOB, APOE, LCAT, MTTP, P4HB
43response to drugGO:00424939.5APOA1, HADHA, LPL, PRL
44very-low-density lipoprotein particle remodelingGO:00343729.3APOE, CETP, LCAT, LPL
45cholesterol homeostasisGO:00426329.1APOA1, APOB, APOE, CETP, LCAT, LPL
46lipoprotein metabolic processGO:00421579.1APOA1, APOB, APOE, CETP, LCAT, LPL
47cellular protein metabolic processGO:00442678.6APOA1, APOB, APOE, IGF1, P4HB, PRL
48transportGO:00068108.6APOA1, APOB, APOE, CETP, MTTP, SAR1B
49lipid metabolic processGO:00066297.7APOA1, APOB, APOE, CETP, HADHA, HADHB

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:00171279.9APOA1, APOB, APOE, CETP
14triglyceride bindingGO:00171299.8CETP, LPL
15lipid transporter activityGO:00053199.5APOA1, APOB, APOE, CETP, MTTP
16phospholipid transporter activityGO:00055489.4APOA1, CETP, MTTP
17lipid bindingGO:00082899.1APOA1, APOB, APOE, CETP, MTTP, TTPA

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