MCID: HYP818
MIFTS: 54

Hypobetalipoproteinemia, Familial, 1

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Hypobetalipoproteinemia, Familial, 1

MalaCards integrated aliases for Hypobetalipoproteinemia, Familial, 1:

Name: Hypobetalipoproteinemia, Familial, 1 57 75 29 6
Hypobetalipoproteinemia 57 12 29 55 6 15
Familial Hypobetalipoproteinemia 75 37 29 6 73
Hypobetalipoproteinemia, Normotriglyceridemic 57 29 13 6
Fhbl1 57 12 75
Acanthocytosis with Hypobetalipoproteinemia 57 75
Hypobetalipoproteinemias 44 73
Fhbl 57 75
Normotriglyceridemic Hypobetalipoproteinemia 75
Hypobetalipoproteinemia, Familial, Type 1 40
Hypobetalipoproteinemia, Familial; Fhbl 57
Familial Hypobetalipoproteinemia 1 12
Hypobetalipoproteinemia, Familial 57
Hypo-Beta-Lipoproteinemia 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
hypobetalipoproteinemia, familial, 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615558
Disease Ontology 12 DOID:0111062 DOID:1390
MeSH 44 D006995
SNOMED-CT 68 190786004
KEGG 37 H01270

Summaries for Hypobetalipoproteinemia, Familial, 1

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, Familial, 1, also known as hypobetalipoproteinemia, is related to abetalipoproteinemia and hypobetalipoproteinemia, familial, 2, and has symptoms including ataxia An important gene associated with Hypobetalipoproteinemia, Familial, 1 is APOB (Apolipoprotein B), and among its related pathways/superpathways are Fat digestion and absorption and Vitamin digestion and absorption. The drugs Tocopherol and Vitamin E have been mentioned in the context of this disorder. Affiliated tissues include liver, and related phenotypes are rod-cone dystrophy and retinal degeneration

OMIM : 57 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)

UniProtKB/Swiss-Prot : 75 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.

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.

Related Diseases for Hypobetalipoproteinemia, Familial, 1

Diseases in the Hypobetalipoproteinemia, Familial, 1 family:

Hypobetalipoproteinemia, Familial, 2

Diseases related to Hypobetalipoproteinemia, Familial, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 abetalipoproteinemia 29.9 APOA1 APOB APOE LCAT MTTP
2 hypobetalipoproteinemia, familial, 2 11.0
3 xanthoma disseminatum 10.3 APOB APOE
4 schnyder corneal dystrophy 10.2 APOB APOE
5 protein-losing enteropathy 10.2
6 necrobiosis lipoidica 10.2
7 sideroblastic anemia 10.2
8 sea-blue histiocyte disease 10.1 APOE LCAT
9 sitosterolemia 10.0 APOB MTTP
10 dysbaric osteonecrosis 10.0 APOA1 APOB
11 apo a-i deficiency 10.0 APOA1 LCAT
12 hepatic lipase deficiency 10.0 APOA1 APOE
13 cerebral atherosclerosis 10.0 APOA1 APOE
14 vitamin e, familial isolated deficiency of 9.9 APOA1 APOB
15 fish-eye disease 9.9 APOA1 LCAT
16 amyloidosis aa 9.8 APOA1 LCAT
17 chylomicron retention disease 9.7 APOA1 APOB MTTP
18 leukodystrophy, hypomyelinating, 3 9.7 APOA1 APOB APOE
19 hyperlipidemia, familial combined 9.7 APOA1 APOB APOE
20 hyperlipoproteinemia, type iv 9.7 APOA1 APOB APOE
21 ischemic heart disease 9.7 APOA1 APOB APOE
22 coronary stenosis 9.6 APOA1 APOB APOE
23 inherited metabolic disorder 9.6 APOA1 APOB
24 carotid artery disease 9.6 APOA1 APOB APOE
25 gallbladder disease 9.6 APOA1 APOB APOE
26 aortic atherosclerosis 9.6 APOE LDLR
27 fetal macrosomia 9.6 APOA1 APOB LCAT
28 arteriosclerosis 9.6 APOA1 APOB APOE
29 familial lcat deficiency 9.5 APOA1 APOE LCAT
30 smith-lemli-opitz syndrome 9.5 APOE LDLR
31 hypercholesterolemia, autosomal dominant, type b 9.5 APOB APOE LDLR
32 homozygous familial hypercholesterolemia 9.5 APOB APOE LDLR
33 xanthomatosis 9.4 APOB APOE LDLR
34 peripheral vascular disease 9.4 APOA1 APOB
35 hypertriglyceridemia, familial 9.2 APOA1 APOB LDLR
36 tangier disease 9.1 APOA1 APOB APOE LCAT
37 body mass index quantitative trait locus 11 9.1 APOA1 APOB APOE MTTP
38 defective apolipoprotein b-100 8.9 APOB APOE LCAT LDLR
39 lipoprotein glomerulopathy 8.9 APOB APOE LCAT LDLR
40 hyperlipoproteinemia, type iii 8.7 APOA1 APOB APOE LDLR
41 arteries, anomalies of 8.7 APOA1 APOB APOE LDLR
42 cerebrovascular disease 8.7 APOA1 APOB APOE LDLR
43 hypoalphalipoproteinemia, primary 8.7 APOA1 APOB LCAT LDLR
44 vascular disease 8.7 APOA1 APOB APOE LDLR
45 heart disease 8.6 APOA1 APOB APOE LDLR
46 myocardial infarction 8.6 APOA1 APOB APOE LDLR
47 diabetes mellitus, noninsulin-dependent 8.5 APOA1 APOB APOE LCAT MTTP
48 arcus corneae 8.2 APOA1 APOB APOE LCAT LDLR
49 hyperalphalipoproteinemia 1 8.2 APOA1 APOB APOE LCAT LDLR
50 lecithin:cholesterol acyltransferase deficiency 8.1 APOA1 APOB APOE LCAT LDLR

Graphical network of the top 20 diseases related to Hypobetalipoproteinemia, Familial, 1:



Diseases related to Hypobetalipoproteinemia, Familial, 1

Symptoms & Phenotypes for Hypobetalipoproteinemia, Familial, 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
retinitis pigmentosa (in some patients)
retinal degeneration

Neurologic Central Nervous System:
ataxia

Hematology:
red cell acanthocytosis

Abdomen Gastrointestinal:
mild fat malabsorption

Neurologic Peripheral Nervous System:
absent or decreased deep tendon reflexes

Laboratory Abnormalities:
hypobetalipoproteinemia
decreased serum cholesterol


Clinical features from OMIM:

615558

Human phenotypes related to Hypobetalipoproteinemia, Familial, 1:

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

UMLS symptoms related to Hypobetalipoproteinemia, Familial, 1:


ataxia

GenomeRNAi Phenotypes related to Hypobetalipoproteinemia, Familial, 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.26 APOA1 APOB APOE LDLR
2 Increased LDL uptake GR00340-A-1 8.8 APOA1 APOE LDLR

MGI Mouse Phenotypes related to Hypobetalipoproteinemia, Familial, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 APOE LCAT LDLR MTTP APOA1 APOB
2 homeostasis/metabolism MP:0005376 9.5 APOE LCAT LDLR MTTP ANGPTL3 APOA1
3 liver/biliary system MP:0005370 9.17 APOE LCAT LDLR MTTP ANGPTL3 APOA1

Drugs & Therapeutics for Hypobetalipoproteinemia, Familial, 1

Drugs for Hypobetalipoproteinemia, Familial, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tocopherol Approved, Investigational, Nutraceutical Phase 3 1406-66-2 14986
2
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
3 Micronutrients Phase 3
4 Tocopherols Phase 3
5 Tocotrienols Phase 3
6 Trace Elements Phase 3
7 Vitamins Phase 3
8 Antioxidants Phase 3
9 Protective Agents Phase 3
10 Tocotrienol Investigational, Nutraceutical Phase 3 6829-55-6
11
Mipomersen Approved, Investigational Phase 2 1000120-98-8
12 Hypolipidemic Agents Phase 2
13 Anticholesteremic Agents Phase 2
14 Liver Extracts Phase 2
15 Lipid Regulating Agents Phase 2
16 Antimetabolites 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:


# 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 Not Applicable
7 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
8 Lipoprotein Metabolism in Normal Volunteers and Patients With High Levels of Lipoproteins Recruiting NCT00001154
9 Prevalence of fAmilial hypobetalipopRoTeinemIa in psychiaTrIc pOpulatioN (PARTITION) Not yet recruiting NCT03549637 Not Applicable

Search NIH Clinical Center for Hypobetalipoproteinemia, Familial, 1

Cochrane evidence based reviews: hypobetalipoproteinemias

Genetic Tests for Hypobetalipoproteinemia, Familial, 1

Genetic tests related to Hypobetalipoproteinemia, Familial, 1:

# Genetic test Affiliating Genes
1 Hypobetalipoproteinemia, Normotriglyceridemic 29
2 Hypobetalipoproteinemia, Familial, 1 29 APOB
3 Familial Hypobetalipoproteinemia 29
4 Hypobetalipoproteinemia 29

Anatomical Context for Hypobetalipoproteinemia, Familial, 1

MalaCards organs/tissues related to Hypobetalipoproteinemia, Familial, 1:

41
Liver

Publications for Hypobetalipoproteinemia, Familial, 1

Articles related to Hypobetalipoproteinemia, Familial, 1:

(show top 50) (show all 91)
# 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
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
4
Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia. ( 27179706 )
2016
5
Characterization of a mutant form of human apolipoprotein B (Thr26_Tyr27del) associated with familial hypobetalipoproteinemia. ( 26825690 )
2016
6
Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B. ( 26612772 )
2016
7
Homozygous familial hypobetalipoproteinemia: two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature. ( 25618028 )
2015
8
An Infant with Chronic Diarrhoea and Failure to Thrive: Familial Hypobetalipoproteinemia. ( 26816882 )
2015
9
SPG11 mutation in a Turkish familial hypobetalipoproteinemia family with hereditary spastic paraplegia. ( 25769290 )
2015
10
Clinical and genetic analysis of a family diagnosed with familial hypobetalipoproteinemia in which the proband was diagnosed with diabetes mellitus. ( 25733326 )
2015
11
Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia. ( 26086616 )
2015
12
Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia. ( 25763510 )
2015
13
The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations. ( 26073401 )
2015
14
Lipoprotein Metabolism in APOB L343V Familial Hypobetalipoproteinemia. ( 26323024 )
2015
15
Familial hypobetalipoproteinemia: analysis of three Spanish cases with two new mutations in the APOB gene. ( 24001780 )
2013
16
Familial hypobetalipoproteinemia-induced nonalcoholic steatohepatitis. ( 22855658 )
2012
17
Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation. ( 22155345 )
2012
18
Familial hypobetalipoproteinemia in a hospital survey: genetics, metabolism and non-alcoholic fatty liver disease. ( 21502677 )
2011
19
Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B. ( 20032471 )
2010
20
New mutations in APOB100 involved in familial hypobetalipoproteinemia. ( 21122650 )
2010
21
Dissociation between intrahepatic triglyceride content and insulin resistance in familial hypobetalipoproteinemia. ( 20303351 )
2010
22
Recurrent familial hypobetalipoproteinemia-induced nonalcoholic fatty liver disease after living donor liver transplantation. ( 19562718 )
2009
23
Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia. ( 19084451 )
2009
24
Familial hypobetalipoproteinemia: early neurological, hematological, and ocular manifestations in two affected twins responding to vitamin supplementation. ( 19773654 )
2009
25
[Familial hypobetalipoproteinemia: clinical characterization of a new mutation in the APOB gene]. ( 19442995 )
2009
26
Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia. ( 19056372 )
2009
27
PCSK9 dominant negative mutant results in increased LDL catabolic rate and familial hypobetalipoproteinemia. ( 19762784 )
2009
28
Familial hypobetalipoproteinemia due to apolipoprotein B R463W mutation causes intestinal fat accumulation and low postprandial lipemia. ( 19344897 )
2009
29
Familial hypobetalipoproteinemia due to a novel early stop mutation. ( 21291764 )
2008
30
Familial hypobetalipoproteinemia in a Turkish family with hereditary spastic paraplegia. ( 18261467 )
2008
31
Familial defective apolipoprotein B and familial hypobetalipoproteinemia in one family: two neutralizing mutations. ( 18458293 )
2008
32
Missense mutations in APOB within the betaalpha1 domain of human APOB-100 result in impaired secretion of ApoB and ApoB-containing lipoproteins in familial hypobetalipoproteinemia. ( 17588943 )
2007
33
Novel mutation (c.G1124A) in exon 9 of the APOB gene causes aberrant splicing and familial hypobetalipoproteinemia. ( 17517592 )
2007
34
[Familial hypobetalipoproteinemia secondary to a mutation in the apolipoprotein B gene]. ( 17517208 )
2007
35
Postprandial lipoprotein metabolism in familial hypobetalipoproteinemia. ( 17213276 )
2007
36
Assessment of tocopherol metabolism and oxidative stress in familial hypobetalipoproteinemia. ( 16728468 )
2006
37
Familial hypobetalipoproteinemia: genetics and metabolism. ( 15818469 )
2005
38
Pediatric gallstone disease in familial hypobetalipoproteinemia. ( 15894400 )
2005
39
Liver dysfunction and steatosis in familial hypobetalipoproteinemia. ( 15514099 )
2005
40
Absence of fatty liver in familial hypobetalipoproteinemia linked to chromosome 3p21. ( 15877300 )
2005
41
An MCA/MR syndrome with hypocholesterolemia due to familial hypobetalipoproteinemia: report of a second patient with Nguyen syndrome. ( 16088930 )
2005
42
Hepatic and cardiovascular consequences of familial hypobetalipoproteinemia. ( 16002743 )
2005
43
[Hepatic steatosis associated with heterozygotic familial hypobetalipoproteinemia]. ( 15056412 )
2004
44
Fatty liver in familial hypobetalipoproteinemia: roles of the APOB defects, intra-abdominal adipose tissue, and insulin sensitivity. ( 14967820 )
2004
45
A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia. ( 12551903 )
2003
46
Familial hypobetalipoproteinemia: a review. ( 12639976 )
2003
47
Fatty liver in familial hypobetalipoproteinemia: triglyceride assembly into VLDL particles is affected by the extent of hepatic steatosis. ( 12562873 )
2003
48
[Familial hypobetalipoproteinemia]. ( 12781120 )
2003
49
Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia. ( 12872264 )
2003
50
Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia. ( 12124991 )
2002

Variations for Hypobetalipoproteinemia, Familial, 1

UniProtKB/Swiss-Prot genetic disease variations for Hypobetalipoproteinemia, Familial, 1:

75
# Symbol AA change Variation ID SNP ID
1 APOB p.Arg490Trp VAR_022610

ClinVar genetic disease variations for Hypobetalipoproteinemia, Familial, 1:

6
(show top 50) (show all 856)
# 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.5263_5266delAACA (p.Asn1755Valfs) deletion Pathogenic rs281865425 GRCh38 Chromosome 2, 21011602: 21011605
3 APOB NM_000384.2(APOB): c.5463delG (p.His1822Metfs) deletion Pathogenic rs397514255 GRCh37 Chromosome 2, 21234277: 21234277
4 APOB NM_000384.2(APOB): c.5463delG (p.His1822Metfs) deletion Pathogenic rs397514255 GRCh38 Chromosome 2, 21011405: 21011405
5 APOB NM_000384.2(APOB): c.3997C> T (p.Arg1333Ter) single nucleotide variant Pathogenic rs121918383 GRCh37 Chromosome 2, 21236251: 21236251
6 APOB NM_000384.2(APOB): c.3997C> T (p.Arg1333Ter) single nucleotide variant Pathogenic rs121918383 GRCh38 Chromosome 2, 21013379: 21013379
7 APOB NM_000384.2(APOB): c.5566_5567delGT (p.Val1856Cysfs) deletion Pathogenic rs121918384 GRCh37 Chromosome 2, 21234173: 21234174
8 APOB NM_000384.2(APOB): c.5566_5567delGT (p.Val1856Cysfs) deletion Pathogenic rs121918384 GRCh38 Chromosome 2, 21011301: 21011302
9 APOB NM_000384.2(APOB): c.12181delG (p.Glu4061Argfs) deletion Pathogenic rs121918385 GRCh37 Chromosome 2, 21226113: 21226113
10 APOB NM_000384.2(APOB): c.12181delG (p.Glu4061Argfs) deletion Pathogenic rs121918385 GRCh38 Chromosome 2, 21003241: 21003241
11 APOB APOB, EX21DEL deletion Pathogenic
12 APOB NM_000384.2(APOB): c.6253C> T (p.Arg2085Ter) single nucleotide variant Pathogenic rs121918386 GRCh37 Chromosome 2, 21233487: 21233487
13 APOB NM_000384.2(APOB): c.6253C> T (p.Arg2085Ter) single nucleotide variant Pathogenic rs121918386 GRCh38 Chromosome 2, 21010615: 21010615
14 APOB NM_000384.2(APOB): c.11905delG (p.Glu3969Asnfs) deletion Pathogenic rs387906569 GRCh37 Chromosome 2, 21227323: 21227323
15 APOB NM_000384.2(APOB): c.11905delG (p.Glu3969Asnfs) deletion Pathogenic rs387906569 GRCh38 Chromosome 2, 21004451: 21004451
16 APOB NM_000384.2(APOB): c.4352delG (p.Gly1451Valfs) deletion Pathogenic rs397514256 GRCh37 Chromosome 2, 21235388: 21235388
17 APOB NM_000384.2(APOB): c.4352delG (p.Gly1451Valfs) deletion Pathogenic rs397514256 GRCh38 Chromosome 2, 21012516: 21012516
18 APOB NM_000384.2(APOB): c.9199delA (p.Lys3067Argfs) deletion Pathogenic rs121918387 GRCh37 Chromosome 2, 21230541: 21230541
19 APOB NM_000384.2(APOB): c.9199delA (p.Lys3067Argfs) deletion Pathogenic rs121918387 GRCh38 Chromosome 2, 21007669: 21007669
20 APOB NM_000384.2(APOB): c.6835C> T (p.Gln2279Ter) single nucleotide variant Pathogenic rs121918388 GRCh37 Chromosome 2, 21232905: 21232905
21 APOB NM_000384.2(APOB): c.6835C> T (p.Gln2279Ter) single nucleotide variant Pathogenic rs121918388 GRCh38 Chromosome 2, 21010033: 21010033
22 APOB NM_000384.2(APOB): c.4429C> T (p.Gln1477Ter) single nucleotide variant Pathogenic rs121918389 GRCh37 Chromosome 2, 21235311: 21235311
23 APOB NM_000384.2(APOB): c.4429C> T (p.Gln1477Ter) single nucleotide variant Pathogenic rs121918389 GRCh38 Chromosome 2, 21012439: 21012439
24 APOB NM_000384.2(APOB): c.7564C> T (p.Arg2522Ter) single nucleotide variant Pathogenic rs121918390 GRCh37 Chromosome 2, 21232176: 21232176
25 APOB NM_000384.2(APOB): c.7564C> T (p.Arg2522Ter) single nucleotide variant Pathogenic rs121918390 GRCh38 Chromosome 2, 21009304: 21009304
26 APOB NM_000384.2(APOB): c.11712delC (p.Asn3904Lysfs) deletion Pathogenic rs587776852 GRCh37 Chromosome 2, 21228028: 21228028
27 APOB NM_000384.2(APOB): c.11712delC (p.Asn3904Lysfs) deletion Pathogenic rs587776852 GRCh38 Chromosome 2, 21005156: 21005156
28 APOB APOB, IVS7AS, A-G, -2 single nucleotide variant Pathogenic
29 APOB APOB, 1-BP DEL, 4432T deletion Pathogenic
30 APOB APOB, 4-BP DEL, NT36491 deletion Pathogenic
31 APOB NM_000384.2(APOB): c.3600T> A (p.Tyr1200Ter) single nucleotide variant Pathogenic rs121918391 GRCh37 Chromosome 2, 21238041: 21238041
32 APOB NM_000384.2(APOB): c.3600T> A (p.Tyr1200Ter) single nucleotide variant Pathogenic rs121918391 GRCh38 Chromosome 2, 21015169: 21015169
33 APOB NM_000384.2(APOB): c.905-1_905dupGG duplication Pathogenic rs606231236 GRCh37 Chromosome 2, 21256390: 21256391
34 APOB NM_000384.2(APOB): c.905-1_905dupGG duplication Pathogenic rs606231236 GRCh38 Chromosome 2, 21033518: 21033519
35 APOB NM_000384.2(APOB): c.10294C> G (p.Gln3432Glu) single nucleotide variant Benign/Likely benign rs1042023 GRCh37 Chromosome 2, 21229446: 21229446
36 APOB NM_000384.2(APOB): c.10294C> G (p.Gln3432Glu) single nucleotide variant Benign/Likely benign rs1042023 GRCh38 Chromosome 2, 21006574: 21006574
37 APOB NM_000384.2(APOB): c.6639_6641delTGA (p.Asp2213del) deletion Conflicting interpretations of pathogenicity rs541497967 GRCh37 Chromosome 2, 21233099: 21233101
38 APOB NM_000384.2(APOB): c.6639_6641delTGA (p.Asp2213del) deletion Conflicting interpretations of pathogenicity rs541497967 GRCh38 Chromosome 2, 21010227: 21010229
39 APOB NM_000384.2(APOB): c.7696G> A (p.Glu2566Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs1801696 GRCh38 Chromosome 2, 21009172: 21009172
40 APOB NM_000384.2(APOB): c.7696G> A (p.Glu2566Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs1801696 GRCh37 Chromosome 2, 21232044: 21232044
41 APOB NM_000384.2(APOB): c.5066G> A (p.Arg1689His) single nucleotide variant Conflicting interpretations of pathogenicity rs151009667 GRCh38 Chromosome 2, 21011802: 21011802
42 APOB NM_000384.2(APOB): c.5066G> A (p.Arg1689His) single nucleotide variant Conflicting interpretations of pathogenicity rs151009667 GRCh37 Chromosome 2, 21234674: 21234674
43 APOB NM_000384.2(APOB): c.2585T> C (p.Val862Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs145142090 GRCh38 Chromosome 2, 21023544: 21023544
44 APOB NM_000384.2(APOB): c.2585T> C (p.Val862Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs145142090 GRCh37 Chromosome 2, 21246416: 21246416
45 PCSK9 NM_174936.3(PCSK9): c.1380A> G (p.Val460=) single nucleotide variant Benign/Likely benign rs540796 GRCh37 Chromosome 1, 55524197: 55524197
46 PCSK9 NM_174936.3(PCSK9): c.1380A> G (p.Val460=) single nucleotide variant Benign/Likely benign rs540796 GRCh38 Chromosome 1, 55058524: 55058524
47 PCSK9 NM_174936.3(PCSK9): c.1420G> A (p.Val474Ile) single nucleotide variant Benign/Likely benign rs562556 GRCh37 Chromosome 1, 55524237: 55524237
48 PCSK9 NM_174936.3(PCSK9): c.1420G> A (p.Val474Ile) single nucleotide variant Benign/Likely benign rs562556 GRCh38 Chromosome 1, 55058564: 55058564
49 APOB NM_000384.2(APOB): c.1661C> T (p.Pro554Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs12714214 GRCh37 Chromosome 2, 21251367: 21251367
50 APOB NM_000384.2(APOB): c.1661C> T (p.Pro554Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs12714214 GRCh38 Chromosome 2, 21028495: 21028495

Expression for Hypobetalipoproteinemia, Familial, 1

Search GEO for disease gene expression data for Hypobetalipoproteinemia, Familial, 1.

Pathways for Hypobetalipoproteinemia, Familial, 1

Pathways related to Hypobetalipoproteinemia, Familial, 1 according to KEGG:

37
# Name Kegg Source Accession
1 Fat digestion and absorption hsa04975
2 Vitamin digestion and absorption hsa04977

Pathways related to Hypobetalipoproteinemia, Familial, 1 according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.61 ANGPTL3 APOA1 APOB APOE LCAT LDLR
2
Show member pathways
12.9 APOA1 APOB APOE LDLR
3
Show member pathways
12.28 APOA1 APOB APOE LDLR
4
Show member pathways
12.04 ANGPTL3 APOA1 APOB APOE LCAT LDLR
5
Show member pathways
11.89 APOA1 APOB APOE LDLR
6
Show member pathways
11.79 APOA1 APOB APOE LDLR
7
Show member pathways
11.6 APOA1 APOB APOE
8
Show member pathways
11.24 ANGPTL3 APOA1 APOB APOE LCAT LDLR
9
Show member pathways
11.14 APOA1 APOB MTTP
10 10.98 APOE LDLR
11 10.84 APOA1 APOB

GO Terms for Hypobetalipoproteinemia, Familial, 1

Cellular components related to Hypobetalipoproteinemia, Familial, 1 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.97 ANGPTL3 APOA1 APOB APOE LCAT LDLR
2 extracellular region GO:0005576 9.92 ANGPTL3 APOA1 APOB APOE LCAT
3 Golgi apparatus GO:0005794 9.84 ANGPTL3 APOE LDLR MTTP
4 endoplasmic reticulum lumen GO:0005788 9.78 APOA1 APOB APOE MTTP
5 clathrin-coated endocytic vesicle membrane GO:0030669 9.61 APOB APOE LDLR
6 high-density lipoprotein particle GO:0034364 9.58 APOA1 APOE LCAT
7 early endosome GO:0005769 9.55 ANGPTL3 APOA1 APOB APOE LDLR
8 very-low-density lipoprotein particle GO:0034361 9.54 APOA1 APOB APOE
9 extracellular vesicle GO:1903561 9.51 APOA1 APOE
10 endocytic vesicle lumen GO:0071682 9.5 APOA1 APOB APOE
11 discoidal high-density lipoprotein particle GO:0034365 9.46 APOA1 APOE
12 chylomicron GO:0042627 9.43 APOA1 APOB APOE
13 intermediate-density lipoprotein particle GO:0034363 9.13 APOA1 APOB APOE
14 low-density lipoprotein particle GO:0034362 8.92 APOA1 APOB APOE LDLR

Biological processes related to Hypobetalipoproteinemia, Familial, 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.91 ANGPTL3 APOA1 APOB APOE LCAT LDLR
2 receptor-mediated endocytosis GO:0006898 9.9 APOA1 APOB APOE LDLR
3 post-translational protein modification GO:0043687 9.89 APOA1 APOB APOE
4 cellular protein metabolic process GO:0044267 9.87 APOA1 APOB APOE
5 lipid transport GO:0006869 9.85 APOA1 APOB APOE LDLR MTTP
6 steroid metabolic process GO:0008202 9.8 APOA1 APOB APOE LCAT LDLR
7 phospholipid metabolic process GO:0006644 9.79 ANGPTL3 APOA1 LCAT
8 retinoid metabolic process GO:0001523 9.79 APOA1 APOB APOE
9 phospholipid transport GO:0015914 9.78 APOA1 LDLR MTTP
10 triglyceride homeostasis GO:0070328 9.76 ANGPTL3 APOA1 APOE
11 triglyceride catabolic process GO:0019433 9.75 APOA1 APOB APOE
12 cholesterol efflux GO:0033344 9.74 APOA1 APOB APOE
13 artery morphogenesis GO:0048844 9.73 ANGPTL3 APOB APOE
14 cholesterol transport GO:0030301 9.73 APOA1 APOB LCAT LDLR
15 reverse cholesterol transport GO:0043691 9.72 APOA1 APOE LCAT
16 cholesterol biosynthetic process GO:0006695 9.71 APOA1 APOE
17 lipid homeostasis GO:0055088 9.71 ANGPTL3 APOE
18 high-density lipoprotein particle remodeling GO:0034375 9.71 APOA1 APOE LCAT
19 triglyceride metabolic process GO:0006641 9.7 APOE MTTP
20 long-term memory GO:0007616 9.7 APOE LDLR
21 phosphatidylcholine biosynthetic process GO:0006656 9.7 APOA1 LCAT
22 very-low-density lipoprotein particle remodeling GO:0034372 9.7 APOA1 APOE LCAT
23 low-density lipoprotein particle clearance GO:0034383 9.69 APOB LDLR
24 positive regulation of endocytosis GO:0045807 9.69 APOE LDLR
25 lipid storage GO:0019915 9.69 ANGPTL3 APOA1
26 chylomicron remodeling GO:0034371 9.69 APOA1 APOB APOE
27 lipoprotein transport GO:0042953 9.68 APOB MTTP
28 positive regulation of lipid biosynthetic process GO:0046889 9.68 APOA1 APOE
29 phosphatidylcholine metabolic process GO:0046470 9.68 APOA1 LCAT
30 high-density lipoprotein particle assembly GO:0034380 9.68 APOA1 APOE
31 low-density lipoprotein particle remodeling GO:0034374 9.67 APOB APOE
32 phospholipid efflux GO:0033700 9.67 APOA1 APOE
33 regulation of protein metabolic process GO:0051246 9.67 APOE LDLR
34 chylomicron remnant clearance GO:0034382 9.67 APOB APOE LDLR
35 regulation of cholesterol metabolic process GO:0090181 9.66 APOE LDLR
36 very-low-density lipoprotein particle assembly GO:0034379 9.66 APOB MTTP
37 positive regulation of cholesterol esterification GO:0010873 9.65 APOA1 APOE
38 high-density lipoprotein particle clearance GO:0034384 9.65 APOA1 APOE
39 phospholipid homeostasis GO:0055091 9.65 ANGPTL3 APOA1
40 lipoprotein catabolic process GO:0042159 9.65 APOB APOE LDLR
41 neuron projection regeneration GO:0031102 9.64 APOA1 APOE
42 regulation of cholesterol transport GO:0032374 9.64 APOA1 APOE
43 regulation of Cdc42 protein signal transduction GO:0032489 9.63 APOA1 APOE
44 cholesterol import GO:0070508 9.63 APOA1 LDLR
45 very-low-density lipoprotein particle clearance GO:0034447 9.62 APOB APOE
46 chylomicron assembly GO:0034378 9.62 APOA1 APOB APOE MTTP
47 response to caloric restriction GO:0061771 9.59 APOE LDLR
48 lipoprotein biosynthetic process GO:0042158 9.56 APOA1 APOB APOE LCAT
49 lipoprotein metabolic process GO:0042157 9.55 APOA1 APOB APOE LDLR MTTP
50 cholesterol metabolic process GO:0008203 9.43 ANGPTL3 APOA1 APOB APOE LCAT LDLR

Molecular functions related to Hypobetalipoproteinemia, Familial, 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.61 ANGPTL3 APOB APOE
2 phospholipid binding GO:0005543 9.58 APOA1 APOB APOE
3 lipid binding GO:0008289 9.56 APOA1 APOB APOE MTTP
4 cholesterol binding GO:0015485 9.49 APOA1 APOE
5 low-density lipoprotein particle receptor binding GO:0050750 9.48 APOB APOE
6 phospholipid transporter activity GO:0005548 9.46 APOA1 MTTP
7 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.37 APOA1 APOE
8 amyloid-beta binding GO:0001540 9.33 APOA1 APOE LDLR
9 lipoprotein particle binding GO:0071813 9.32 APOA1 APOE
10 cholesterol transporter activity GO:0017127 9.13 APOA1 APOB APOE
11 lipid transporter activity GO:0005319 8.92 APOA1 APOB APOE MTTP

Sources for Hypobetalipoproteinemia, Familial, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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