MCID: ABT001
MIFTS: 57

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:
23Genetics Home Reference, 49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 65UMLS, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Abetalipoproteinemia:

Name: Abetalipoproteinemia 49 10 11 45 22 23 47 12 51 67 36 24 65
Familial Hypobetalipoproteinemia 10 45 23 65
Microsomal Triglyceride Transfer Protein Deficiency Disease 10 45 23
Abetalipoproteinemia Neuropathy 45 23 65
Acanthocytosis 23 67 65
Abl 45 22 67
Microsomal Triglyceride Transfer Protein Deficiency 45 67
Congenital Betalipoprotein Deficiency Syndrome 45 23
Homozygous Familial Hypobetalipoproteinemia 45 51
Betalipoprotein Deficiency Disease 45 23
 
Apolipoprotein B Deficiency 45 23
Bassen-Kornzweig Syndrome 23 67
Bassen-Kornzweig Disease 45 51
Mtp Deficiency 45 67
Fhbl 45 23
Hypobetalipoproteinemia, Familial, Apolipoprotein B 65
Hypobetalipoproteinemia, Familial 45
Bassen Kornzweig Syndrome 45
Hypobetalipoproteinemias 65
Hypobetalipoproteinemia 23

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
abetalipoproteinemia:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 200100
Disease Ontology10 DOID:1386
ICD1027 E78.6
MeSH36 D000012
NCIt42 C84525
SNOMED-CT59 190787008, 83123000
Orphanet51 14
ICD10 via Orphanet28 E78.6
MESH via Orphanet37 D000012
UMLS via Orphanet66 C0000744
MedGen34 C0000744
UMLS65 C0000744, C1862596, C2931925 C1704299, C0687751, more

Summaries for Abetalipoproteinemia

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NIH Rare Diseases:45 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 myocardial infarction, and has symptoms including malabsorption, abnormality of movement and abnormality of retinal pigmentation. An important gene associated with Abetalipoproteinemia is MTTP (Microsomal Triglyceride Transfer Protein), and among its related pathways are Vitamin digestion and absorption and Folate Metabolism. Affiliated tissues include eye, lung and breast, and related mouse phenotypes are liver/biliary system and cardiovascular system.

Disease Ontology:10 A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has physical basis in an autosomal recessive disorder of lipid metabolism caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL).

Genetics Home Reference:23 Abetalipoproteinemia is an inherited disorder that affects the absorption of dietary fats, cholesterol, and fat-soluble vitamins. People affected by this disorder are not able to make certain lipoproteins, which are particles that carry fats and fat-like substances (such as cholesterol) in the blood. Specifically, people with abetalipoproteinemia are missing a group of lipoproteins called beta-lipoproteins. An inability to make beta-lipoproteins causes severely reduced absorption (malabsorption) of dietary fats and fat-soluble vitamins (vitamins A, D, E, and K) from the digestive tract into the bloodstream. Sufficient levels of fats, cholesterol, and vitamins are necessary for normal growth, development, and maintenance of the body's cells and tissues, particularly nerve cells and tissues in the eye.

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

UniProtKB/Swiss-Prot:67 Abetalipoproteinemia: An autosomal recessive disorder of lipoprotein metabolism. Affected individuals produce virtually no circulating apolipoprotein B- containing lipoproteins (chylomicrons, VLDL, LDL, lipoprotein(A)). Malabsorption of the antioxidant vitamin E occurs, leading to spinocerebellar and retinal degeneration.

Wikipedia:68 Abetalipoproteinemia, or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder that... more...

Related Diseases for Abetalipoproteinemia

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

(show top 50)    (show all 195)
idRelated DiseaseScoreTop Affiliating Genes
1hypobetalipoproteinemia31.0APOB, MTTP
2myocardial infarction28.8APOA1, APOB, APOE, CETP, LCAT, LPL
3choreoacanthocytosis12.2
4harp syndrome11.9
5leukemia, chronic myeloid, somatic11.8
6subacute myeloid leukemia11.7
7trifunctional protein deficiency11.4
8chronic neutrophilic leukemia10.8
9cardiomyopathy10.6
10hypobetalipoproteinemia, familial, 210.3
11hypolipoproteinemia10.3
12spinocerebellar ataxia 410.2APOA1, LCAT
13dengue shock syndrome10.2
14metaphyseal dysplasia10.2APOA1, APOB
15cervicitis10.2
16amelogenesis imperfecta, type iia310.2APOA1, LPL
17hypercholesterolemia, due to ligand-defective apo b10.2APOB, APOE
18lipid metabolism disorder10.2APOB, APOE
19legg-calve-perthes disease10.1APOA1, APOB
20extensor tendons of finger anomalies10.1APOA1, CETP
21amyloidosis beta2m10.1APOA1, LCAT
22arsacs10.1APOE, LPL
23carnitine deficiency, systemic primary10.1APOA1, APOB, MTTP
24retinal degeneration, late-onset, autosomal dominant10.1APOE, LPL
25bacteriuria10.1APOB, LCAT, LPL
26obesity10.1
27arthritis10.1
28hepatitis10.1
29churg-strauss syndrome10.1
30vasculitis10.1
31psoriasis10.1
32encephalitis10.1
33endotheliitis10.1
34alzheimer disease-210.1APOE, LCAT
35distal myopathy with posterior leg and anterior hand involvement10.0APOE, LPL
36hyperinsulinemic hypoglycemia, familial, 410.0HADHA, MTTP
37sitosterolemia10.0APOB, MTTP
38deficiency of n-glycanase 110.0APOB, APOE, LCAT
39fatal post-viral neurodegenerative disorder10.0APOB, APOE
40schizophrenia9.9
41rheumatoid arthritis9.9
42colorectal cancer9.9
43systemic lupus erythematosus9.9
44ichthyosis vulgaris9.9
45malaria9.9
46lung cancer9.9
47hiv-19.9
48prostate cancer9.9
49hepatocellular carcinoma9.9
50asthma9.9

Graphical network of the top 20 diseases related to Abetalipoproteinemia:



Diseases related to abetalipoproteinemia

Symptoms for Abetalipoproteinemia

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Symptoms by clinical synopsis from OMIM:

200100

Clinical features from OMIM:

200100

Symptoms:

 51 (show all 8)
  • malabsorption/chronic diarrhea/steatorrhea
  • autosomal recessive inheritance
  • retinitis pigmentosa/retinal pigmentary changes
  • ataxia/incoordination/trouble of the equilibrium
  • movement disorder
  • hypotonia
  • areflexia/hyporeflexia
  • visual loss/blindness/amblyopia

HPO human phenotypes related to Abetalipoproteinemia:

(show all 15)
id Description Frequency HPO Source Accession
1 malabsorption hallmark (90%) HP:0002024
2 abnormality of movement typical (50%) HP:0100022
3 abnormality of retinal pigmentation typical (50%) HP:0007703
4 incoordination typical (50%) HP:0002311
5 reduced tendon reflexes typical (50%) HP:0001315
6 muscular hypotonia typical (50%) HP:0001252
7 visual impairment occasional (7.5%) HP:0000505
8 peripheral demyelination HP:0011096
9 abetalipoproteinemia HP:0008181
10 cns demyelination HP:0007305
11 fat malabsorption HP:0002630
12 acanthocytosis HP:0001927
13 ataxia HP:0001251
14 pigmentary retinal degeneration HP:0001146
15 retinopathy HP:0000488

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, nutraceuticalPhase 237159-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-Tocopherol
(+)-alpha-tocopherol
(+)-α-tocopherol
(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-trimethyltridecyl]chroman-6-ol
(2R)-3,4-Dihydro-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol
(2R,4'R,8'R)-a-Tocopherol
(2R,4'R,8'R)-alpha-Tocopherol
(2R,4'R,8'r)-alpha-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-alpha-tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
Amino-Opti-E
Aquasol E
D-alpha-Tocopherol
Daltose
Denamone
E-200 I.U. Softgels
 
E-Complex-600
E-Ferol
E-Vitamin succinate
Eprolin
Gordo-Vite E
Phytogermin
Phytogermine
RRR-alpha-tocopherol
RRR-alpha-tocopheryl
Tocopherol
Vitamin E
Vitamin Ea
Vitamin Plus E Softgells
Vitamin e
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
d-alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
2Trace ElementsPhase 23900
3VitaminsPhase 23857
4AntioxidantsPhase 22442
5TocotrienolsPhase 2372
6MicronutrientsPhase 23901
7Protective AgentsPhase 25651
8TocopherolsPhase 2376
9TocotrienolNutraceuticalPhase 2372
10TocopherolNutraceuticalPhase 2376
11
Vitamin Aapproved, nutraceutical41311103-57-4, 68-26-8445354
Synonyms:
(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraen-1-ol
(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraen-1-ol
(2e,4e,6e,8e)-3,7-Dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraen-1-ol
(all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
.alpha.lin
.alpha.sterol
.beta.-Retinol
11103-57-4
13123-33-6
1341-18-0
1406-67-3
17104-91-5
1rbp
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclchexen-1-yl)-2,4,6,8-nonatetraen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonate-traen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexenyl)-2,4,6,8-nonatetraen-1-ol
3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol, (all-E)-Isomer
4-06-00-04133 (Beilstein Handbook Reference)
53637-36-8
5979-23-7
68-26-8
95144_FLUKA
95144_SIGMA
95146_FLUKA
95146_SIGMA
A-Mulsal
A-Sol
A-Vi-Pel
A-Vitan
AC-11701
AC1L9HU3
AC1Q7BU9
ACON
ALL-TRANS RETINOL (SEE ALSO RETINOID PROJECT 1)
AR-1L3057
ATAV
Afaxin
Agiolan
Agoncal
Alcohol 9,13-dimethyl-7-(1,1,5-trimethyl-6-cyclohexen-5-yl)-7,9,11,13-nonatetraen-15-ol
Alcovit A
All Trans Retinol
All-trans retinol
All-trans-Retinol
Alphalin
Alphasterol
Anatola
Anatola A
Anti-infective vitamin
Antixerophthalmic vitamin
Antixerophthalmisches Vitamin
Aoral
Apexol
Apostavit
Aquasol A
Aquasol A Parenteral
Aquasynth
Atars
Avibon
Avita
Avitol
Axerol
Axerophthol
Axerophtholum
BIDD:PXR0102
BRN 0403040
Bentavit A
Biosterol
C00473
C17276
C20H30O
CCRIS 5444
CHEBI:17336
CHEMBL986
CID445354
Chocola A
Chocola a
Cylasphere
D014801
D06543
DB00162
Del-VI-A
Disatabs Tabs
Dofsol
Dohyfral A
EINECS 200-683-7
EINECS 234-328-2
Epiteliol
HMS1921B04
HMS2092L13
HMS501I08
HSDB 815
Hi-A-Vita
Homagenets Aoral
Homagenets aorl
Hydrovit A
IDI1_000486
LMPR01090001
LPK
LS-1578
Lard Factor
M.V.C. 9+3
M.V.I.-12
 
MLS001066379
MLS001074751
MolPort-001-785-962
Mvc Plus
Myvpack
NCGC00091784-01
NCGC00091784-02
NCGC00091784-03
NCGC00091784-04
NCGC00091784-05
NCGC00091784-06
NSC 122759
NSC122759
Nio-A-Let
Oleovitamin A
Ophthalamin
Plivit A
Prepalin
R7632_SIGMA
Retin-11,12-t2-ol (9CI)
Retinol
Retinol [INN:BAN]
Retinol solution
Retinol, all-trans- (8CI)
Retinol-(cellular-retinol-binding-protein)
Retinolo
Retinolo [DCIT]
Retinolum
Retinolum [INN-Latin]
Retrovitamin A
Ro-a-vit
Rovimix A 500
SDCCGMLS-0066724.P001
SMP2_000102
SMR000112036
SPECTRUM1501203
ST057232
Sehkraft A
Solu-A
Spectrum5_000993
Spectrum5_001997
Super A
Testavol
Testavol S
Thalasphere
UNII-81G40H8B0T
UNII-G2SH0XKK91
Vaflol
Vafol
Veroftal
Vi-.alpha.
Vi-Alpha
Vi-Dom-A
Vi-a
Vio-A
Vitamin A
Vitamin A (Feed)
Vitamin A (USP)
Vitamin A alcohol
Vitamin A alcohol (VAN)
Vitamin A cryst
Vitamin A palmitate
Vitamin A1
Vitamin A1 alcohol
Vitamin A1 alcohol, all trans
Vitamin a
Vitamin- A
Vitamin- A alcohol
Vitamin- A alcohol solution
Vitamin- A1
Vitamin-?A
Vitamin-?A alcohol
Vitamin-?A alcohol solution
Vitamin-?A1
Vitamine A
Vitaminum A
Vitavel A
Vitavel-A
Vitpex
Vogan
Vogan-Neu
Vogan-nu
WLN: L6UTJ A1 B1U1Y1&U2U1Y1&U2Q C1 C1
Wachstumsvitamin
ZINC03831417
Zinosan N
[11,12-3H]-Retinol
alin
all-trans-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
all-trans-Retinol
all-trans-Retinyl alcohol
all-trans-Vitamin A
all-trans-Vitamin A alcohol
all-trans-Vitamin A1
all-trans-retinol
all-trans-retinyl alcohol
all-trans-vitamin A alcohol
b-Retinol
beta-Retinol
retinol
tROL
trans-Retinol
trans-Retinol acid (Vitamin A)
trans-Vitamin A alcohol
trans-retinol
12Retinol palmitate413
13retinolNutraceutical413

Interventional clinical trials:

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

Search NIH Clinical Center for Abetalipoproteinemia


Cochrane evidence based reviews: abetalipoproteinemia

Genetic Tests for Abetalipoproteinemia

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Genetic tests related to Abetalipoproteinemia:

id Genetic test Affiliating Genes
1 Abetalipoproteinemia22 MTTP

Anatomical Context for Abetalipoproteinemia

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MalaCards organs/tissues related to Abetalipoproteinemia:

33
Eye, Lung, Breast, T cells, Heart, Testes, B cells

Animal Models for Abetalipoproteinemia or affiliated genes

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MGI Mouse Phenotypes related to Abetalipoproteinemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053707.4APOA1, APOB, APOE, HADHA, LCAT, LPL
2MP:00053856.6APOA1, APOB, APOE, HADHA, LCAT, LPL
3MP:00053766.3APOA1, APOB, APOE, HADHA, LCAT, LPL

Publications for Abetalipoproteinemia

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Articles related to Abetalipoproteinemia:

(show top 50)    (show all 167)
idTitleAuthorsYear
1
Meckel's diverticulum enteroliths causing small bowel obstruction. (26762683)
2016
2
Decreased Probability of Initial Pain Cessation in Classic Trigeminal Neuralgia Treated With Gamma Knife Surgery in Case of Previous Microvascular Decompression: A Prospective Series of 45 Patients With >1 Year of Follow-up. (25812065)
2015
3
Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3. (23648117)
2013
4
Identification of small-molecule agonists of human relaxin family receptor 1 (RXFP1) by using a homogenous cell-based cAMP assay. (23212924)
2013
5
Adopted children from the former Soviet Union: are they at risk of fetal alcohol spectrum disorder? (24130279)
2013
6
Unusual case of inflammatory myofibroblastic tumor in maxilla. (23691372)
2013
7
Resting heart rate and the risk of microvascular complications in patients with type 2 diabetes mellitus. (23316296)
2012
8
Epidemiology of infertility: a population-based study in Babol, Iran. (23127216)
2012
9
Toward rubella elimination in Poland: need for supplemental immunization activities, enhanced surveillance, and further integration with measles elimination efforts. (21666189)
2011
10
Surgery for asymptomatic degenerative aortic and mitral valve disease. (21243010)
2011
11
Dysbindin gene (DTNBP1) in major depressive disorder (MDD) patients: lack of association with clinical phenotypes. (20822372)
2010
12
Algorithms using clinical and genetic data (CYP2C9, VKORC1) are relevant to predict warfarin dose in patients with different INR targets. (20569971)
2010
13
GAMT joins the p53 network: branching into metabolism. (20404548)
2010
14
Silencing of estrogen receptor alpha (ERalpha) gene by promoter hypermethylation is a frequent event in Chinese women with sporadic breast cancer. (18814026)
2009
15
Medium-dose prednisolone pulse therapy in alopecia areata. (21572877)
2009
16
Grape seed and red wine polyphenol extracts inhibit cellular cholesterol uptake, cell proliferation, and 5-lipoxygenase activity. (19083497)
2008
17
Jund is a determinant of macrophage activation and is associated with glomerulonephritis susceptibility. (18443593)
2008
18
Synthesis and biological activities of 4-phenyl-5-pyridyl-1,3-thiazole derivatives as selective adenosine A3 antagonists. (18670113)
2008
19
Identification and functional characterization of ASK/Dbf4, a novel cell survival gene in cutaneous melanoma with prognostic relevance. (17768177)
2007
20
The DSM-IV-TR Is an inadequate diagnostic tool for premature ejaculation. (17498112)
2007
21
Cytokine gene polymorphisms in Chinese patients with psoriasis. (17388919)
2007
22
NF-kappaB activation in inflammatory breast cancer is associated with oestrogen receptor downregulation, secondary to EGFR and/or ErbB2 overexpression and MAPK hyperactivation. (17700572)
2007
23
Protein-losing enteropathy from eosinophilic enteritis diagnosed by wireless capsule endoscopy and double-balloon enteroscopy. (17208236)
2007
24
Fatal cerebral edema from late-onset ornithine transcarbamylase deficiency in a juvenile male patient receiving valproic acid. (16575347)
2006
25
Dysregulated TGF-beta1-induced Smad signalling occurs as a result of defects in multiple components of the TGF-beta signalling pathway in human head and neck carcinoma cell lines. (16596245)
2006
26
The role of MAPK signal transduction pathway in killing tumor cells by Mtb-Ag activated gammadelta T cells]. (15629076)
2005
27
Level of MYC overexpression in pediatric Burkitt's lymphoma is strongly dependent on genomic breakpoint location within the MYC locus. (15287031)
2004
28
Prognostic value of serum VEGF in melanoma patients: a pilot study. (15736481)
2004
29
Unusual aspects of desmoplastic small round cell tumor. (15205108)
2004
30
Not 15 but 50% of smokers develop COPD?--Report from the Obstructive Lung Disease in Northern Sweden Studies. (12587960)
2003
31
Evidence for activation of the renin-angiotensin system in the human prostate: increased angiotensin II and reduced AT(1) receptor expression in benign prostatic hyperplasia. (11793373)
2002
32
Angiotensinogen and angiotensin-I converting enzyme gene variations in Chinese pregnancy induced hypertension]. (12575194)
2002
33
Plasma von Willebrand factor and soluble p-selectin as indices of endothelial damage and platelet activation in 1321 patients with nonvalvular atrial fibrillation: relationship to stroke risk factors. (12370220)
2002
34
Long-term follow-up of type III membranoproliferative glomerulonephritis in children. (12042898)
2002
35
Relaxant effect of oxytocin on isolated human oviduct. (11593499)
2001
36
Inhibition of uterine contractions: new in vitro pharmacological approaches on the pregnant human myometrium]. (11475797)
2001
37
Cytosine methylation transforms an E2F site in the retinoblastoma gene promoter into a binding site for the general repressor methylcytosine-binding protein 2 (MeCP2). (10390525)
1999
38
Laparoscopic heminephrectomy of a horseshoe kidney using microwave coagulator. (10210397)
1999
39
Interleukin 12 and innate molecules for enhanced mucosal immunity. (10741861)
1999
40
Expression of proinflammatory and proangiogenic cytokines in patients with head and neck cancer. (10389921)
1999
41
Genistein inhibits lysosomal enzyme release by suppressing Ca2+ influx in HL-60 granulocytes. (10191961)
1999
42
Concentrations of free form and complex form of prostate-specific antigen in serum of alpha 2 macroglobulin deficient patients with prostatic carcinoma]. (9800478)
1998
43
Catecholamine secreting glomus tumor detected by iodine-123-MIBG scintigraphy. (8772645)
1996
44
A novel reciprocal translocation (14;15)(q11;q24) in a congenital mesoblastic nephroma. (8630977)
1996
45
Cloning and nucleotide sequence of a full length cDNA encoding ribosomal protein L27 from human fetal kidney. (8148381)
1994
46
Interleukin-5 (IL-5) increases spontaneous apoptosis of B-cell chronic lymphocytic leukemia cells in vitro independently of bcl-2 expression and is inhibited by IL-4. (7919349)
1994
47
Brief report: treatment of vasospastic amaurosis fugax with calcium-channel blockers. (8326973)
1993
48
Pituitary gonadotrophin secretory capacity during the luteal phase in superovulation using GnRH-agonists and HMG in a desensitization or flare-up protocol. (1479002)
1992
49
N-acetylaspartic aciduria. Clinical, biological and physiopathological study]. (1929728)
1991
50
Topical tretinoin in actinic keratosis and basal cell carcinoma. (3534022)
1986

Variations for Abetalipoproteinemia

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UniProtKB/Swiss-Prot genetic disease variations for Abetalipoproteinemia:

67
id Symbol AA change Variation ID SNP ID
1MTTPp.Arg540HisVAR_010642
2MTTPp.Ser590IleVAR_010643
3MTTPp.Gly746GluVAR_010644
4MTTPp.Asn780TyrVAR_014019
5MTTPp.Asp169ValVAR_074553
6MTTPp.Leu435HisVAR_074555
7MTTPp.Tyr528HisVAR_074556
8MTTPp.Arg540CysVAR_074557

Clinvar genetic disease variations for Abetalipoproteinemia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MTTPMTP, 1-BP DEL, 215CdeletionPathogenic
2MTTPNM_000253.3(MTTP): c.1783C> T (p.Arg595Ter)single nucleotide variantPathogenicrs199422219GRCh37Chr 4, 100532313: 100532313
3MTTPMTP, IVS, G-A, +5single nucleotide variantPathogenic
4MTTPMTP, IVS9AS, G-A, -1single nucleotide variantPathogenic
5MTTPNM_000253.3(MTTP): c.1619G> A (p.Arg540His)single nucleotide variantPathogenicrs199422220GRCh37Chr 4, 100529984: 100529984
6MTTPMTP, EXON 10 DELdeletionPathogenic
7MTTPNM_000253.3(MTTP): c.2338A> T (p.Asn780Tyr)single nucleotide variantPathogenicrs199422221GRCh37Chr 4, 100540251: 100540251
8MTTPNM_000253.3(MTTP): c.1769G> T (p.Ser590Ile)single nucleotide variantPathogenicrs199422222GRCh37Chr 4, 100530134: 100530134
9MTTPNM_000253.3(MTTP): c.2593G> T (p.Gly865Ter)single nucleotide variantPathogenicrs146064714GRCh37Chr 4, 100543913: 100543913

Expression for genes affiliated with Abetalipoproteinemia

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Search GEO for disease gene expression data for Abetalipoproteinemia.

Pathways for genes affiliated with Abetalipoproteinemia

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Pathways related to Abetalipoproteinemia according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
19.7APOA1, APOB
2
Show member pathways
9.4APOA1, APOE
39.4APOA1, APOB, MTTP
4
Show member pathways
9.2HADHA, LPL
59.2APOA1, HADHA
6
Show member pathways
9.1APOA1, APOB, APOE
7
Show member pathways
8.8APOA1, HADHA, LPL
8
Show member pathways
8.7APOA1, APOB, APOE, LPL
9
Show member pathways
8.7APOA1, APOB, APOE, LPL
10
Show member pathways
7.5APOA1, APOB, APOE, CETP, LCAT, LPL
11
Show member pathways
7.1APOA1, APOB, APOE, CETP, LCAT, LPL
12
Show member pathways
6.3APOA1, APOB, APOE, CETP, HADHA, LCAT

GO Terms for genes affiliated with Abetalipoproteinemia

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

idNameGO IDScoreTop Affiliating Genes
1early endosomeGO:00057699.1APOA1, APOB, APOE

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

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of macrophage derived foam cell differentiationGO:001074410.2APOB, LPL
2triglyceride transportGO:003419710.2CETP, MTTP
3lipid catabolic processGO:001604210.2APOB, LPL
4low-density lipoprotein particle remodelingGO:003437410.1APOB, APOE
5phosphatidylcholine metabolic processGO:004647010.1CETP, LCAT
6phospholipid transportGO:001591410.1CETP, MTTP
7lipoprotein catabolic processGO:004215910.1APOB, APOE
8neuron projection regenerationGO:003110210.0APOA1, APOE
9phospholipid homeostasisGO:005509110.0APOA1, CETP
10phosphatidylcholine biosynthetic processGO:000665610.0APOA1, LCAT
11positive regulation of cholesterol esterificationGO:001087310.0APOA1, APOE
12cholesterol metabolic processGO:000820310.0APOB, APOE
13phospholipid effluxGO:00337009.9APOA1, APOE
14vitamin transportGO:00511809.8APOA1, TTPA
15very-low-density lipoprotein particle remodelingGO:00343729.8APOE, CETP
16cholesterol transportGO:00303019.8CETP, LCAT
17negative regulation of inflammatory responseGO:00507289.8APOA1, APOE
18triglyceride catabolic processGO:00194339.6APOB, APOE, LPL
19reverse cholesterol transportGO:00436919.5APOA1, APOE, LCAT
20high-density lipoprotein particle remodelingGO:00343759.5APOA1, CETP, LCAT
21triglyceride homeostasisGO:00703289.4APOA1, CETP, LPL
22cholesterol effluxGO:00333449.4APOA1, APOB, APOE
23triglyceride metabolic processGO:00066419.3APOE, CETP, MTTP
24lipoprotein biosynthetic processGO:00421589.3APOA1, APOE, MTTP, P4HB
25response to reactive oxygen speciesGO:00003029.2APOE, P4HB
26cholesterol homeostasisGO:00426329.1APOE, LPL, MTTP
27lipid transportGO:00068699.0APOB, APOE, CETP, MTTP
28retinoid metabolic processGO:00015238.9APOA1, APOB, APOE, LPL
29receptor-mediated endocytosisGO:00068988.8APOA1, APOE, CETP
30phototransduction, visible lightGO:00076038.7APOA1, APOB, APOE, LPL
31lipid metabolic processGO:00066298.3APOB, APOE, LCAT, LPL, TTPA

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

idNameGO IDScoreTop Affiliating Genes
1apolipoprotein bindingGO:00341859.8LPL, MTTP

Sources for Abetalipoproteinemia

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