MCID: ABT001
MIFTS: 63

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:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 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 choreoacanthocytosis, 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, heart and lung, 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 97)
idRelated DiseaseScoreTop Affiliating Genes
1hypobetalipoproteinemia31.7APOB, MTTP
2choreoacanthocytosis11.8
3harp syndrome11.7
4leukemia, chronic myeloid, somatic11.4
5subacute myeloid leukemia11.3
6trifunctional protein deficiency11.0
7leukemia10.8
8chronic neutrophilic leukemia10.7
9myeloid leukemia10.6
10lymphoblastic leukemia10.3
11spinocerebellar ataxia 410.3APOA1, LCAT
12metaphyseal dysplasia10.3APOA1, APOB
13amelogenesis imperfecta, type iia310.3APOA1, LPL
14hypercholesterolemia, due to ligand-defective apo b10.2APOB, APOE
15lipid metabolism disorder10.2APOB, APOE
16legg-calve-perthes disease10.2APOA1, APOB
17extensor tendons of finger anomalies10.2APOA1, CETP
18amyloidosis beta2m10.2APOA1, LCAT
19central nervous system disease10.2
20nervous system disease10.2
21arsacs10.2APOE, LPL
22carnitine deficiency, systemic primary10.2APOA1, APOB, MTTP
23retinal degeneration, late-onset, autosomal dominant10.1APOE, LPL
24bacteriuria10.1APOB, LCAT, LPL
25alzheimer disease-210.1APOE, LCAT
26distal myopathy with posterior leg and anterior hand involvement10.1APOE, LPL
27breast cancer10.1
28hepatitis10.0
29neuropathy10.0
30acute leukemia10.0
31lymphoma10.0
32thyroiditis10.0
33rickets10.0
34angioid streaks10.0
35hyperinsulinemic hypoglycemia, familial, 410.0HADHA, MTTP
36prostatitis9.9
37endotheliitis9.9
38sitosterolemia9.9APOB, MTTP
39deficiency of n-glycanase 19.9APOB, APOE, LCAT
40fatal post-viral neurodegenerative disorder9.9APOB, APOE
41hypobetalipoproteinemia, familial, 29.9
42hypolipoproteinemia9.9
43ataxia9.9
44mesenchymal cell neoplasm9.9APOB, APOE, LPL
45split hand foot malformation9.9APOE, LCAT
46multiple epiphyseal dysplasia9.9APOA1, APOB, APOE
47lung cancer9.8
48carotid artery thrombosis9.8APOA1, APOB, APOE
49colonic benign neoplasm9.8APOA1, APOB, APOE
50spleen cancer9.8APOA1, APOB, APOE

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

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, 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, Heart, Lung, Myeloid, Prostate, Breast, Thyroid

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
Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia. (26086616)
2015
2
Macular atrophy in a case of abetalipoproteinemia as only ocular clinical feature. (26040232)
2015
3
Fat accumulation in enterocytes: a key to the diagnosis of abetalipoproteinemia or homozygous hypobetalipoproteinemia. (26062159)
2015
4
Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal I^-Barrel in Microsomal Triglyceride Transfer Protein Function. (26224785)
2015
5
Hypobetalipoproteinemia and abetalipoproteinemia. (24751931)
2014
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
Abetalipoproteinemia in a Saudi infant. (21333248)
2011
9
Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function. (20592474)
2010
10
Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia. (19056372)
2009
11
Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases. (19066957)
2009
12
Fat-soluble vitamin deficiency in pregnancy: a case report and review of abetalipoproteinemia. (17022912)
2006
13
Endocrine function in abetalipoproteinemia: a study of a female patient of Greek origin. (15960365)
2004
14
The c.419-420insA in the MTP gene is associated with abetalipoproteinemia among French-Canadians. (14741197)
2004
15
Rickets as an unusual initial presentation of abetalipoproteinemia and hypobetalipoproteinemia. (11308051)
2001
16
Abetalipoproteinemia: a case report. (11592517)
2001
17
Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene. (10446076)
1999
18
Pathological case of the month. Abetalipoproteinemia (Bassen-Kornzweig syndrome). (9412607)
1997
19
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
20
Translocation of apolipoprotein B across the endoplasmic reticulum is blocked in abetalipoproteinemia. (8808765)
1996
21
The abetalipoproteinemia gene is a member of the vitellogenin family and encodes an alpha-helical domain. (7664034)
1994
22
The molecular basis of abetalipoproteinemia. (8044420)
1994
23
Microsomal triglyceride transfer protein, the abetalipoproteinemia gene product, mediates the secretion of apolipoprotein B-containing lipoproteins from heterologous cells. (8071315)
1994
24
Abetalipoproteinemia. New insights into lipoprotein assembly and vitamin E metabolism from a rare genetic disease. (8340987)
1993
25
Histochemical and ultrastructural pathology of skeletal muscle in a patient with abetalipoproteinemia. (8310805)
1993
26
Abnormal platelet functions in a patient with abetalipoproteinemia. (1904656)
1991
27
Neutral lipid transfer activities in the plasma of patients with abetalipoproteinemia. (3377877)
1988
28
In vivo evidence for cholesterol ester and triglyceride exchange between high density lipoprotein and infused triglyceride rich particles in abetalipoproteinemia. (3223418)
1988
29
Abetalipoproteinemia or Bassen-Kornzweig syndrome. Clinical, biochemical and electrophysiological features of two cases. (3206997)
1988
30
Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia. (2903181)
1988
31
Abetalipoproteinemia associated with hepatic and atypical neurological disorders. (3694376)
1987
32
Absence of intestinal synthesis of apolipoprotein B-48 in two cases of abetalipoproteinemia. (3653634)
1987
33
Abetalipoproteinemia and metastatic spinal cord glioblastoma. (6326713)
1984
34
Abetalipoproteinemia. Report of an unusual patient. (6472810)
1984
35
Vitamin A and vitamin E replacement in abetalipoproteinemia. (6691669)
1984
36
Electrophysiological studies in five cases of abetalipoproteinemia. (6704795)
1984
37
A case report of abetalipoproteinemia (Bassen-Kornzweig syndrome)--the first case in Japan. (6620711)
1983
38
Corticosteroid production in abetalipoproteinemia: evidence for an impaired response ACTH. (6283000)
1982
39
Hormone changes during the menstrual cycle in abetalipoproteinemia: reduced luteal phase progesterone in a patient with homozygous hypobetalipoproteinemia. (6959145)
1982
40
Importance of cholesterol-phospholipid interaction in determining dynamics of normal and abetalipoproteinemia red blood cell membrane. (6168375)
1981
41
Sterol balance in abetalipoproteinemia: studies in a patient with homozygous familial hypobetalipoproteinemia. (491973)
1979
42
Endoscopic assessment in abetalipoproteinemia (Bassen-Kornzweig-syndrome). (631097)
1978
43
Regulation of cholesterol synthesis by low density lipoprotein in isolated human lymphocytes. Comparison of cells from normal subjects and patients with homozygous familial hypercholesterolemia and abetalipoproteinemia. (194011)
1977
44
Decreased fluidity of red cell membrane lipids in abetalipoproteinemia. (874076)
1977
45
Abetalipoproteinemia and the eye. (782598)
1976
46
Abetalipoproteinemia. (4719023)
1973
47
Abetalipoproteinemia: metabolic, endocrine, and electron-microscopic investigations. (5561886)
1971
48
Phospholipid and phospholipid fatty acid and aldehyde composition of red cells of patients with abetalipoproteinemia (acanthocytosis). Evidence for essential fatty acid deficiency in man. (5651363)
1968
49
Peroxidative hemolysis of red blood cells from patients with abetalipoproteinemia (acanthocytosis). (6023771)
1967
50
Abnormalities of high density lipoproteins in abetalipoproteinemia. (6027078)
1967

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