MCID: HYP027
MIFTS: 54

Hypobetalipoproteinemia

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Hypobetalipoproteinemia

MalaCards integrated aliases for Hypobetalipoproteinemia:

Name: Hypobetalipoproteinemia 54 12 29 52 14
Familial Hypobetalipoproteinemia 71 29 69
Hypobetalipoproteinemia, Normotriglyceridemic 29 13
Hypobetalipoproteinemia, Familial, 1 71 29
Hypobetalipoproteinemias 42 69
Fhbl1 12 71
Fhbl 24 71
Normotriglyceridemic Hypobetalipoproteinemia 71
Acanthocytosis with Hypobetalipoproteinemia 71
Hypobetalipoproteinemia, Familial 1 24
Familial Hypobetalipoproteinemia 1 12
Hypobetalipoproteinemia, Familial 24
Hypo-Beta-Lipoproteinemia 12

Characteristics:

OMIM:

54
Miscellaneous:
heterozygotes have half-normal levels of apob-containing lipoproteins

Inheritance:
autosomal recessive


HPO:

32
hypobetalipoproteinemia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 615558
Disease Ontology 12 DOID:0111062 DOID:1390
MeSH 42 D006995
SNOMED-CT 64 190786004
UMLS 69 C0020597

Summaries for Hypobetalipoproteinemia

Genetics Home Reference : 25 Familial hypobetalipoproteinemia (FHBL) is a disorder that impairs the body's ability to absorb and transport fats. This condition is characterized by low levels of a fat-like substance called cholesterol in the blood. The severity of signs and symptoms experienced by people with FHBL vary widely. The most mildly affected individuals have few problems with absorbing fats from the diet and no related signs and symptoms. Many individuals with FHBL develop an abnormal buildup of fats in the liver called hepatic steatosis or fatty liver. In more severely affected individuals, fatty liver may progress to chronic liver disease (cirrhosis). Individuals with severe FHBL have greater difficulty absorbing fats as well as fat-soluble vitamins such as vitamin E and vitamin A. This difficulty in fat absorption leads to excess fat in the feces (steatorrhea). In childhood, these digestive problems can result in an inability to grow or gain weight at the expected rate (failure to thrive).

MalaCards based summary : Hypobetalipoproteinemia, also known as familial hypobetalipoproteinemia, is related to hypobetalipoproteinemia, familial, 2 and abetalipoproteinemia, and has symptoms including ataxia, retinal degeneration and rod-cone dystrophy. An important gene associated with Hypobetalipoproteinemia is APOB (Apolipoprotein B), and among its related pathways/superpathways are Metabolism and Vesicle-mediated transport. The drugs Tocopherol and Vitamin E have been mentioned in the context of this disorder. Affiliated tissues include liver, and related phenotypes are Decreased free cholesterol and Increased LDL uptake

UniProtKB/Swiss-Prot : 71 Hypobetalipoproteinemia, familial, 1: A disorder of lipid metabolism characterized by less than 5th percentile age- and sex-specific levels of low density lipoproteins, and dietary fat malabsorption. Clinical presentation may vary from no symptoms to severe gastrointestinal and neurological dysfunction similar to abetalipoproteinemia.

OMIM : 54
Hypobetalipoproteinemia (FBHL) and abetalipoproteinemia (ABL; 200100) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of FBHL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance, whereas obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance (summary by Lee and Hegele, 2014). (615558)

Disease Ontology : 12 A hypolipoproteinemia characterized by permanently low levels of apolipoprotein B and LDL cholesterol resulting from an impaired ability to absorb and transport fats.

Wikipedia : 72 Hypobetalipoproteinemia is a disorder consisting of low levels of LDL cholesterol or apolipoprotein B,... more...

Related Diseases for Hypobetalipoproteinemia

Diseases in the Hypobetalipoproteinemia family:

Hypobetalipoproteinemia, Familial, 2

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

(show top 50) (show all 70)
id Related Disease Score Top Affiliating Genes
1 hypobetalipoproteinemia, familial, 2 12.2
2 abetalipoproteinemia 11.9
3 mental retardation hypocupremia hypobetalipoproteinemia 11.8
4 chylomicron retention disease 11.5
5 nguyen syndrome 11.1
6 hypolipoproteinemia 11.0
7 xk aprosencephaly 10.2 APOB APOE
8 migraine with or without aura 1 10.2 APOB APOE
9 cataract, autosomal dominant congenital 4 10.1 APOB APOE
10 islet cell tumor 10.1 APOB APOE
11 hepatitis 10.1
12 necrobiosis lipoidica 10.1
13 sideroblastic anemia 10.1
14 protein-losing enteropathy 10.1
15 sitosterolemia 10.0 APOB MTTP
16 pontocerebellar hypoplasia 10.0 APOB APOE
17 arthritis 10.0 APOE LDLR
18 melorheostosis 10.0 APOB APOE
19 hemochromatosis, type 5 10.0 APOE LDLR
20 retinitis 9.9
21 paraplegia 9.9
22 fatty liver disease 9.9
23 liver disease 9.9
24 spasticity 9.9
25 fetal parvovirus syndrome 9.9 APOB LCAT
26 glossopharyngeal nerve disease 9.9 APOB APOE
27 carnitine deficiency, systemic primary 9.8 APOB MTTP SAR1B
28 hypercholesterolemia, due to ligand-defective apo b 9.8 APOB APOE LDLR
29 hepatitis c 9.8
30 hepatitis c virus 9.8
31 atherosclerosis 9.8
32 hereditary spastic paraplegia 9.8
33 retinitis pigmentosa 9.8
34 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression 9.8 APOB APOE LDLR
35 alzheimer disease-2 9.8 APOB APOE LDLR
36 hyperlipidemia, familial combined 9.8 APOB APOE
37 malignant fibrous histiocytoma of bone 9.8 APOB APOE LDLR
38 lipoprotein glomerulopathy 9.7 APOE LCAT
39 malignant type ab thymoma 9.7 APOB APOE LDLR
40 familial osteochondritis dissecans 9.7 APOE LCAT
41 autoimmune hepatitis 9.7 APOB APOE LDLR
42 pericarditis 9.7 APOB APOE LDLR
43 hypothyroidism 9.6
44 hepatocellular carcinoma 9.6
45 obesity 9.6
46 muscular atrophy 9.6
47 retinal degeneration 9.6
48 afibrinogenemia 9.6
49 spinal muscular atrophy 9.6
50 nonalcoholic steatohepatitis 9.6

Graphical network of the top 20 diseases related to Hypobetalipoproteinemia:



Diseases related to Hypobetalipoproteinemia

Symptoms & Phenotypes for Hypobetalipoproteinemia

Symptoms via clinical synopsis from OMIM:

54

Laboratory- Abnormalities:
decreased serum cholesterol
hypobetalipoproteinemia

Neurologic- Peripheral Nervous System:
absent or decreased deep tendon reflexes

Abdomen- Gastroin testinal:
mild fat malabsorption

Hematology:
red cell acanthocytosis

Neurologic- Central Nervous System:
ataxia

Head And Neck- Eyes:
retinal degeneration
retinitis pigmentosa (in some patients)


Clinical features from OMIM:

615558

Human phenotypes related to Hypobetalipoproteinemia:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 retinal degeneration 32 HP:0000546
3 rod-cone dystrophy 32 occasional (7.5%) HP:0000510
4 hypobetalipoproteinemia 32 HP:0003563
5 acanthocytosis 32 HP:0001927
6 reduced tendon reflexes 32 HP:0001315

UMLS symptoms related to Hypobetalipoproteinemia:


ataxia

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.13 APOB APOE LDLR
2 Increased LDL uptake GR00340-A-1 8.62 APOE LDLR

MGI Mouse Phenotypes related to Hypobetalipoproteinemia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.7 ANGPTL3 APOB APOE LCAT LDLR MTTP
2 cardiovascular system MP:0005385 9.65 MTTP APOB APOE LCAT LDLR
3 liver/biliary system MP:0005370 9.43 ANGPTL3 APOB APOE LCAT LDLR MTTP
4 pigmentation MP:0001186 8.8 APOB APOE LDLR

Drugs & Therapeutics for Hypobetalipoproteinemia

Drugs for Hypobetalipoproteinemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Tocopherol Approved, Nutraceutical Phase 3
2
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
3 Antioxidants Phase 3
4 Micronutrients Phase 3
5 Protective Agents Phase 3
6 Tocopherols Phase 3
7 Tocotrienols Phase 3
8 Trace Elements Phase 3
9 Vitamins Phase 3
10 Tocotrienol Investigational, Nutraceutical Phase 3 6829-55-6
11
Mipomersen Approved Phase 2 1000120-98-8
12 Anticholesteremic Agents Phase 2
13 Antimetabolites Phase 2
14 Hypolipidemic Agents Phase 2
15 Lipid Regulating Agents Phase 2
16 Liver Extracts Phase 2
17
Vitamin A Approved, Nutraceutical, Vet_approved 11103-57-4, 68-26-8 445354
18 Retinol palmitate
19 retinol Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Study of the Absorption of Vitamin E Water-soluble Form (Pegylated) in the Familial Hypocholesterolemia With Chylomicron Retention Completed NCT01457690 Phase 3 Tocofersolan;tocopherol alpha;Tocofersolan and tocopherol alpha
2 Measure Liver Fat Content After ISIS 301012 (Mipomersen) Administration Completed NCT00362180 Phase 2 mipomersen;Placebo
3 Prevalence Assessment and Characterization of Psychological Disorders Associated With Hypobetalipoproteinemia Completed NCT02889614
4 Mechanisms of Low Levels of Apolipoprotein B Completed NCT00005565
5 Vitamin Replacement in Abetalipoproteinemia Completed NCT00004574
6 HYPOCHOL : A Genetically-based Strategy to Identify New Targets in Cholesterol Metabolism Recruiting NCT02354079
7 Lipoprotein Metabolism in Normal Volunteers and Patients With High Levels of Lipoproteins Recruiting NCT00001154
8 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940

Search NIH Clinical Center for Hypobetalipoproteinemia

Cochrane evidence based reviews: hypobetalipoproteinemias

Genetic Tests for Hypobetalipoproteinemia

Genetic tests related to Hypobetalipoproteinemia:

id Genetic test Affiliating Genes
1 Hypobetalipoproteinemia, Normotriglyceridemic 29
2 Hypobetalipoproteinemia, Familial, 1 29
3 Familial Hypobetalipoproteinemia 29
4 Hypobetalipoproteinemia 29
5 Hypobetalipoproteinemia, Familial 1 24 APOB

Anatomical Context for Hypobetalipoproteinemia

MalaCards organs/tissues related to Hypobetalipoproteinemia:

39
Liver

Publications for Hypobetalipoproteinemia

Articles related to Hypobetalipoproteinemia:

(show top 50) (show all 174)
id Title Authors Year
1
Clinical and biochemical characteristics of individuals with low cholesterol syndromes: AA comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia. ( 28733173 )
2017
2
Lipoprotein metabolism in an apoB-80 familial hypobetalipoproteinemia heterozygote. ( 26916057 )
2016
3
Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B. ( 26612772 )
2016
4
Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia. ( 27179706 )
2016
5
Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects. ( 27487388 )
2016
6
Corrigendum to "Molecular diagnosis of hypobetalipoproteinemia: AnA ENID review" [Atherosclerosis 195 (2) (2007) 19-27]. ( 27180645 )
2016
7
Characterization of a mutant form of human apolipoprotein B (Thr26_Tyr27del) associated with familial hypobetalipoproteinemia. ( 26825690 )
2016
8
Association between familial hypobetalipoproteinemia and the risk of diabetes. Is this the other side of the cholesterol-diabetes connection? A systematic review of literature. ( 27804036 )
2016
9
SPG11 mutation in a Turkish familial hypobetalipoproteinemia family with hereditary spastic paraplegia. ( 25769290 )
2015
10
The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations. ( 26073401 )
2015
11
Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia. ( 25763510 )
2015
12
Fibrinogen storage disease and cirrhosis associated with hypobetalipoproteinemia owing to fibrinogen Aguadilla in a Turkish child. ( 26176881 )
2015
13
Clinical and genetic analysis of a family diagnosed with familial hypobetalipoproteinemia in which the proband was diagnosed with diabetes mellitus. ( 25733326 )
2015
14
Homozygous familial hypobetalipoproteinemia: two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature. ( 25618028 )
2015
15
Fat accumulation in enterocytes: a key to the diagnosis of abetalipoproteinemia or homozygous hypobetalipoproteinemia. ( 26062159 )
2015
16
Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia. ( 26064709 )
2015
17
Lipoprotein Metabolism in APOB L343V Familial Hypobetalipoproteinemia. ( 26323024 )
2015
18
An Infant with Chronic Diarrhoea and Failure to Thrive: Familial Hypobetalipoproteinemia. ( 26816882 )
2015
19
Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia. ( 26086616 )
2015
20
Update on primary hypobetalipoproteinemia. ( 24781598 )
2014
21
Exome sequencing identifies novel ApoB loss-of-function mutations causing hypobetalipoproteinemia in type 1 diabetes. ( 25430706 )
2014
22
Hypobetalipoproteinemia and abetalipoproteinemia. ( 24751931 )
2014
23
Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. ( 24288038 )
2013
24
Familial hypobetalipoproteinemia: analysis of three Spanish cases with two new mutations in the APOB gene. ( 24001780 )
2013
25
Fatty liver and insulin resistance in children with hypobetalipoproteinemia: the importance of aetiology. ( 22789032 )
2013
26
Familial hypobetalipoproteinemia-induced nonalcoholic steatohepatitis. ( 22855658 )
2012
27
Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia. ( 22658148 )
2012
28
Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation. ( 22155345 )
2012
29
A novel mutation of apolipoprotein B in a French Canadian family with homozygous hypobetalipoproteinemia. ( 21981844 )
2011
30
Plasma non-cholesterol sterols in primary hypobetalipoproteinemia. ( 21492858 )
2011
31
Familial hypobetalipoproteinemia in a hospital survey: genetics, metabolism and non-alcoholic fatty liver disease. ( 21502677 )
2011
32
Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum. ( 21874758 )
2011
33
New mutations in APOB100 involved in familial hypobetalipoproteinemia. ( 21122650 )
2010
34
Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B. ( 20032471 )
2010
35
Dissociation between intrahepatic triglyceride content and insulin resistance in familial hypobetalipoproteinemia. ( 20303351 )
2010
36
[Familial hypobetalipoproteinemia: clinical characterization of a new mutation in the APOB gene]. ( 19442995 )
2009
37
Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia. ( 19056372 )
2009
38
Recurrent familial hypobetalipoproteinemia-induced nonalcoholic fatty liver disease after living donor liver transplantation. ( 19562718 )
2009
39
Familial hypobetalipoproteinemia due to apolipoprotein B R463W mutation causes intestinal fat accumulation and low postprandial lipemia. ( 19344897 )
2009
40
Dysmorphic findings in two cases of abeta/hypobetalipoproteinemia. ( 19282754 )
2009
41
Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia. ( 19084451 )
2009
42
Familial hypobetalipoproteinemia: early neurological, hematological, and ocular manifestations in two affected twins responding to vitamin supplementation. ( 19773654 )
2009
43
Do diabetes and obesity promote hepatic fibrosis in familial heterozygous hypobetalipoproteinemia? ( 18633688 )
2009
44
Apolipoprotein B gene mutations and fatty liver in Japanese hypobetalipoproteinemia. ( 18848826 )
2009
45
PCSK9 dominant negative mutant results in increased LDL catabolic rate and familial hypobetalipoproteinemia. ( 19762784 )
2009
46
Familial defective apolipoprotein B and familial hypobetalipoproteinemia in one family: two neutralizing mutations. ( 18458293 )
2008
47
Familial hypobetalipoproteinemia in a Turkish family with hereditary spastic paraplegia. ( 18261467 )
2008
48
Familial hypobetalipoproteinemia due to a novel early stop mutation. ( 21291764 )
2008
49
Novel mutation (c.G1124A) in exon 9 of the APOB gene causes aberrant splicing and familial hypobetalipoproteinemia. ( 17517592 )
2007
50
Novel human pathological mutations. Gene symbol: APOB. Disease: normotriglyceridemic hypobetalipoproteinemia. ( 17879433 )
2007

Variations for Hypobetalipoproteinemia

UniProtKB/Swiss-Prot genetic disease variations for Hypobetalipoproteinemia:

71
id Symbol AA change Variation ID SNP ID
1 APOB p.Arg490Trp VAR_022610

ClinVar genetic disease variations for Hypobetalipoproteinemia:

6 (show all 25)
id Gene Variation Type Significance SNP ID Assembly Location
1 APOB NM_000384.2(APOB): c.5263_5266delAACA (p.Asn1755Valfs) deletion Pathogenic rs281865425 GRCh37 Chromosome 2, 21234474: 21234477
2 APOB NM_000384.2(APOB): c.5463delG (p.His1822Metfs) deletion Pathogenic rs397514255 GRCh37 Chromosome 2, 21234277: 21234277
3 APOB NM_000384.2(APOB): c.3997C> T (p.Arg1333Ter) single nucleotide variant Pathogenic rs121918383 GRCh37 Chromosome 2, 21236251: 21236251
4 APOB NM_000384.2(APOB): c.5566_5567delGT (p.Val1856Cysfs) deletion Pathogenic rs121918384 GRCh37 Chromosome 2, 21234173: 21234174
5 APOB NM_000384.2(APOB): c.12181delG (p.Glu4061Argfs) deletion Pathogenic rs121918385 GRCh37 Chromosome 2, 21226113: 21226113
6 APOB APOB, EX21DEL deletion Pathogenic
7 APOB NM_000384.2(APOB): c.6253C> T (p.Arg2085Ter) single nucleotide variant Pathogenic rs121918386 GRCh37 Chromosome 2, 21233487: 21233487
8 APOB NM_000384.2(APOB): c.11905delG (p.Glu3969Asnfs) deletion Pathogenic rs387906569 GRCh37 Chromosome 2, 21227323: 21227323
9 APOB NM_000384.2(APOB): c.4352delG (p.Gly1451Valfs) deletion Pathogenic rs397514256 GRCh37 Chromosome 2, 21235388: 21235388
10 APOB NM_000384.2(APOB): c.9199delA (p.Lys3067Argfs) deletion Pathogenic rs121918387 GRCh37 Chromosome 2, 21230541: 21230541
11 APOB NM_000384.2(APOB): c.6835C> T (p.Gln2279Ter) single nucleotide variant Pathogenic rs121918388 GRCh37 Chromosome 2, 21232905: 21232905
12 APOB NM_000384.2(APOB): c.4429C> T (p.Gln1477Ter) single nucleotide variant Pathogenic rs121918389 GRCh37 Chromosome 2, 21235311: 21235311
13 APOB NM_000384.2(APOB): c.7564C> T (p.Arg2522Ter) single nucleotide variant Pathogenic rs121918390 GRCh37 Chromosome 2, 21232176: 21232176
14 APOB NM_000384.2(APOB): c.11712delC (p.Asn3904Lysfs) deletion Pathogenic rs587776852 GRCh37 Chromosome 2, 21228028: 21228028
15 APOB APOB, IVS7AS, A-G, -2 single nucleotide variant Pathogenic
16 APOB APOB, 1-BP DEL, 4432T deletion Pathogenic
17 APOB APOB, 4-BP DEL, NT36491 deletion Pathogenic
18 APOB NM_000384.2(APOB): c.3600T> A (p.Tyr1200Ter) single nucleotide variant Pathogenic rs121918391 GRCh37 Chromosome 2, 21238041: 21238041
19 APOB NM_000384.2(APOB): c.905-1_905dupGG duplication Pathogenic rs606231236 GRCh37 Chromosome 2, 21256390: 21256391
20 APOB NM_000384.2(APOB): c.9523delG (p.Ala3175Leufs) deletion Pathogenic rs878853973 GRCh38 Chromosome 2, 21007345: 21007345
21 APOB NM_000384.2(APOB): c.1672C> T (p.Arg558Ter) single nucleotide variant Pathogenic rs878853970 GRCh38 Chromosome 2, 21028484: 21028484
22 APOB NM_000384.2(APOB): c.2988_2994delCGGGGAC (p.Gly997Profs) deletion Pathogenic rs1057518647 GRCh37 Chromosome 2, 21242600: 21242606
23 APOB NM_000384.2(APOB): c.409G> T (p.Glu137Ter) single nucleotide variant Pathogenic rs766243954 GRCh38 Chromosome 2, 21038086: 21038086
24 APOB NM_000384.2(APOB): c.5116dupA (p.Thr1706Asnfs) duplication Pathogenic GRCh37 Chromosome 2, 21234624: 21234624
25 APOB NM_000384.2(APOB): c.10238delC (p.Thr3413Metfs) deletion Pathogenic rs756209187 GRCh37 Chromosome 2, 21229502: 21229502

Expression for Hypobetalipoproteinemia

Search GEO for disease gene expression data for Hypobetalipoproteinemia.

Pathways for Hypobetalipoproteinemia

Pathways related to Hypobetalipoproteinemia according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.33 ANGPTL3 APOB APOE LCAT LDLR MTTP
2
Show member pathways
12.86 APOB APOE LDLR SAR1B
3
Show member pathways
12.19 APOB APOE LDLR
4
Show member pathways
11.76 APOB APOE LDLR
5
Show member pathways
11.7 ANGPTL3 APOB APOE LCAT LDLR MTTP
6 11.3 LDLR SAR1B
7
Show member pathways
11.19 APOB APOE LCAT LDLR MTTP
8
Show member pathways
11.01 APOB MTTP
9 10.87 APOE LDLR

GO Terms for Hypobetalipoproteinemia

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.88 ANGPTL3 APOB APOE LCAT LDLR
2 Golgi apparatus GO:0005794 9.77 ANGPTL3 APOE LDLR MTTP SAR1B
3 endoplasmic reticulum lumen GO:0005788 9.67 APOB APOE MTTP
4 high-density lipoprotein particle GO:0034364 9.46 APOE LCAT
5 early endosome GO:0005769 9.46 ANGPTL3 APOB APOE LDLR
6 very-low-density lipoprotein particle GO:0034361 9.43 APOB APOE
7 endocytic vesicle lumen GO:0071682 9.4 APOB APOE
8 chylomicron GO:0042627 9.32 APOB APOE
9 intermediate-density lipoprotein particle GO:0034363 9.26 APOB APOE
10 clathrin-coated endocytic vesicle membrane GO:0030669 9.13 APOB APOE LDLR
11 low-density lipoprotein particle GO:0034362 8.8 APOB APOE LDLR

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

(show all 32)
id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.85 ANGPTL3 APOB APOE LCAT LDLR MTTP
2 receptor-mediated endocytosis GO:0006898 9.79 APOB APOE LDLR
3 lipid transport GO:0006869 9.78 APOB APOE LDLR MTTP
4 steroid metabolic process GO:0008202 9.76 APOB APOE LCAT LDLR
5 cholesterol transport GO:0030301 9.69 APOB LCAT LDLR
6 artery morphogenesis GO:0048844 9.67 ANGPTL3 APOB APOE
7 phospholipid metabolic process GO:0006644 9.65 ANGPTL3 LCAT
8 retinoid metabolic process GO:0001523 9.65 APOB APOE
9 phospholipid transport GO:0015914 9.65 LDLR MTTP
10 triglyceride metabolic process GO:0006641 9.64 APOE MTTP
11 lipid homeostasis GO:0055088 9.63 ANGPTL3 APOE
12 triglyceride homeostasis GO:0070328 9.63 ANGPTL3 APOE
13 low-density lipoprotein particle clearance GO:0034383 9.62 APOB LDLR
14 triglyceride catabolic process GO:0019433 9.62 APOB APOE
15 cholesterol efflux GO:0033344 9.61 APOB APOE
16 chylomicron assembly GO:0034378 9.61 APOB APOE MTTP
17 reverse cholesterol transport GO:0043691 9.59 APOE LCAT
18 high-density lipoprotein particle remodeling GO:0034375 9.58 APOE LCAT
19 lipoprotein transport GO:0042953 9.58 APOB MTTP
20 chylomicron remnant clearance GO:0034382 9.58 APOB APOE LDLR
21 low-density lipoprotein particle remodeling GO:0034374 9.57 APOB APOE
22 very-low-density lipoprotein particle assembly GO:0034379 9.56 APOB MTTP
23 chylomicron remodeling GO:0034371 9.55 APOB APOE
24 very-low-density lipoprotein particle remodeling GO:0034372 9.54 APOE LCAT
25 very-low-density lipoprotein particle clearance GO:0034447 9.52 APOB APOE
26 lipoprotein biosynthetic process GO:0042158 9.5 APOB APOE LCAT
27 lipoprotein metabolic process GO:0042157 9.46 APOB APOE LDLR MTTP
28 lipoprotein catabolic process GO:0042159 9.43 APOB APOE LDLR
29 cholesterol metabolic process GO:0008203 9.35 ANGPTL3 APOB APOE LCAT LDLR
30 positive regulation of endocytosis GO:0045807 9.3 APOE
31 cholesterol homeostasis GO:0042632 9.1 ANGPTL3 APOB APOE LCAT LDLR MTTP
32 transport GO:0006810 10.04 APOB APOE LDLR MTTP SAR1B

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

id Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.5 APOB APOE MTTP
2 phospholipid binding GO:0005543 9.4 APOB APOE
3 low-density lipoprotein particle receptor binding GO:0050750 9.26 APOB APOE
4 cholesterol transporter activity GO:0017127 9.16 APOB APOE
5 heparin binding GO:0008201 9.13 ANGPTL3 APOB APOE
6 beta-amyloid binding GO:0001540 9.07 APOE
7 lipid transporter activity GO:0005319 8.8 APOB APOE MTTP

Sources for Hypobetalipoproteinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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