FHBL1
MCID: HYP818
MIFTS: 60

Hypobetalipoproteinemia, Familial, 1 (FHBL1)

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hypobetalipoproteinemia, Familial, 1

MalaCards integrated aliases for Hypobetalipoproteinemia, Familial, 1:

Name: Hypobetalipoproteinemia, Familial, 1 57 73 29 6
Hypobetalipoproteinemia 57 12 58 29 54 6 15
Familial Hypobetalipoproteinemia 73 36 29 6 71
Hypobetalipoproteinemia, Normotriglyceridemic 57 29 6
Fhbl1 57 12 73
Acanthocytosis with Hypobetalipoproteinemia 57 73
Familial Hypobetalipoproteinemia 1 12 15
Hypobetalipoproteinemia, Familial 57 39
Hypobetalipoproteinemias 44 71
Fhbl 57 73
Normotriglyceridemic Hypobetalipoproteinemia 73
Hypobetalipoproteinemia, Familial, Type 1 39
Hypobetalipoproteinemia, Familial; Fhbl 57
Hypobetalipoprotéinemia, Familial 74
Hypo-Beta-Lipoproteinemia 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

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


HPO:

31
hypobetalipoproteinemia, familial, 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0111062 DOID:1390
OMIM® 57 615558
KEGG 36 H01270
MeSH 44 D006995
SNOMED-CT 67 190786004
MESH via Orphanet 45 D006995
ICD10 via Orphanet 33 E78.6
UMLS via Orphanet 72 C0020597
Orphanet 58 ORPHA31154
UMLS 71 C0020597 C1862596

Summaries for Hypobetalipoproteinemia, Familial, 1

OMIM® : 57 Hypobetalipoproteinemia (FHBL) 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 FHBL 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) (Updated 05-Mar-2021)

MalaCards based summary : Hypobetalipoproteinemia, Familial, 1, also known as hypobetalipoproteinemia, is related to chylomicron retention disease 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, heart and breast, and related phenotypes are rod-cone dystrophy and ataxia

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.

KEGG : 36 Familial hypobetalipoproteinemia (FHBL) is an inherited disorder of lipid metabolism defined by very low levels of plasma apolipoprotein B and LDL cholesterol. Mutations in the gene encoding apolipoprotein B (APOB) have been found in FHBL. It has been identified that mutations in ANGPTL3 also cause this disease.

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 Hypobetalipoproteinemia is a disorder consisting of low levels of LDL cholesterol or apolipoprotein B,... more...

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 135)
# Related Disease Score Top Affiliating Genes
1 chylomicron retention disease 31.7 SAR1B MTTP APOB APOA4 APOA1
2 hypobetalipoproteinemia, familial, 2 31.7 PCSK9 APOB ANGPTL3
3 abetalipoproteinemia 31.0 SAR1B PCSK9 MTTP LCAT APOE APOB
4 non-alcoholic fatty liver disease 30.3 MTTP APOE APOC3 APOB APOA1
5 hypolipoproteinemia 30.2 SAR1B PCSK9 MTTP LCAT APOE APOC3
6 hypoalphalipoproteinemia 29.9 LCAT APOA1
7 familial lcat deficiency 29.8 LCAT APOE APOA1
8 lecithin:cholesterol acyltransferase deficiency 29.6 LCAT APOE APOB APOA1
9 hyperalphalipoproteinemia 1 29.5 LCAT APOC3 APOB APOA1
10 hypercholesterolemia, familial, 1 29.4 PCSK9 LOC106560211 LCAT APOE APOB APOA1
11 hyperlipoproteinemia, type iii 29.2 APOE APOC2 APOB APOA5 APOA1
12 hypertriglyceridemia, familial 29.1 APOE APOC3 APOC2 APOB APOA5 APOA1
13 lipid metabolism disorder 29.0 MTTP LCAT APOE APOC3 APOB APOA5
14 coronary heart disease 1 28.9 PCSK9 MTTP LCAT APOE APOC3 APOB
15 atherosclerosis susceptibility 28.8 PCSK9 LCAT APOE APOC3 APOB APOA1
16 vascular disease 28.7 PCSK9 LCAT APOE APOC3 APOC2 APOB
17 diabetes mellitus 28.0 PCSK9 MTTP LCAT APOE APOC3 APOC2
18 familial hypercholesterolemia 27.7 PCSK9 MTTP LOC106560211 LCAT EGID-106632268 APOE
19 nguyen syndrome 11.1
20 fatty liver disease 10.6
21 fatty liver disease, nonalcoholic 1 10.4
22 xanthoma disseminatum 10.3 APOE APOB
23 hypercholesterolemia, familial, 2 10.3 APOE APOB
24 generalized atherosclerosis 10.3 APOE APOB
25 silent myocardial infarction 10.2 APOB APOA1
26 leukodystrophy, hypomyelinating, 3 10.2 APOB APOA1
27 sea-blue histiocyte disease 10.2 LCAT APOE
28 apo a-i deficiency 10.2 LCAT APOA1
29 hepatic lipase deficiency 10.2 APOE APOA1
30 liver disease 10.2
31 liver cirrhosis 10.2
32 48,xyyy 10.2
33 amyloidosis aa 10.2 LCAT APOA1
34 lipoprotein glomerulopathy 10.2 LCAT APOE APOB
35 platelet glycoprotein iv deficiency 10.1 APOE APOB
36 cerebral atherosclerosis 10.1 APOE APOB APOA1
37 parametritis 10.1 APOB APOA1
38 protein-losing enteropathy 10.1
39 necrobiosis lipoidica 10.1
40 sideroblastic anemia 10.1
41 lymphangiectasis 10.1
42 spastic paraparesis 10.1
43 fish-eye disease 10.1 LCAT APOA1
44 carotid artery disease 10.1 APOE APOB APOA1
45 corneal degeneration 10.1 PCSK9 APOB APOA1
46 abdominal obesity-metabolic syndrome 1 10.1 MTTP APOB APOA1
47 fetal macrosomia 10.1 LCAT APOB APOA1
48 intermediate coronary syndrome 10.1 PCSK9 APOB APOA1
49 retinitis pigmentosa 10.1
50 huntington disease-like 2 10.1

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



Diseases related to Hypobetalipoproteinemia, Familial, 1

Symptoms & Phenotypes for Hypobetalipoproteinemia, Familial, 1

Human phenotypes related to Hypobetalipoproteinemia, Familial, 1:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 occasional (7.5%) HP:0000510
2 ataxia 31 HP:0001251
3 reduced tendon reflexes 31 HP:0001315
4 acanthocytosis 31 HP:0001927
5 decreased ldl cholesterol concentration 31 HP:0003563
6 retinal degeneration 31 HP:0000546

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
ataxia

Laboratory Abnormalities:
decreased serum cholesterol
hypobetalipoproteinemia

Neurologic Peripheral Nervous System:
absent or decreased deep tendon reflexes

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

Abdomen Gastrointestinal:
mild fat malabsorption

Hematology:
red cell acanthocytosis

Clinical features from OMIM®:

615558 (Updated 05-Mar-2021)

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 8.32 APOC1

MGI Mouse Phenotypes related to Hypobetalipoproteinemia, Familial, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.23 ANGPTL3 APOA1 APOB APOE FURIN LCAT

Drugs & Therapeutics for Hypobetalipoproteinemia, Familial, 1

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

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tocopherol Approved, Investigational Phase 3 1406-66-2
2
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
3 Tocotrienol Investigational Phase 3 6829-55-6
4 Nutrients Phase 3
5 Protective Agents Phase 3
6 Micronutrients Phase 3
7 Trace Elements Phase 3
8 Antioxidants Phase 3
9 Vitamins Phase 3
10 Tocotrienols Phase 3
11 Tocopherols Phase 3
12
Mipomersen Approved, Investigational Phase 2 1000120-98-8
13 Liver Extracts Phase 2
14 Lipid Regulating Agents Phase 2
15 Antimetabolites Phase 2
16 Hypolipidemic Agents Phase 2
17 Anticholesteremic Agents Phase 2

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 A Phase 2, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Effect of Apolipoprotein B(ApoB) Reduction by ISIS 301012 on Liver Triglyceride Content in Subjects With Varying Degrees of Hyperlipidemia 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 Prevalence of fAmilial hypobetalipopRoTeinemIa in psychiaTrIc pOpulatioN Recruiting NCT03549637
6 Characterization of Two Novel Truncating Mutations in the Apob Gene Leading to Hypobetalipoproteinemia: A Pilot Study Recruiting NCT03963037
7 HYPOCHOL : A Genetically-based Strategy to Identify New Targets in Cholesterol Metabolism Recruiting NCT02354079

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:

40
Liver, Heart, Breast

Publications for Hypobetalipoproteinemia, Familial, 1

Articles related to Hypobetalipoproteinemia, Familial, 1:

(show top 50) (show all 339)
# Title Authors PMID Year
1
Reading-frame restoration with an apolipoprotein B gene frameshift mutation. 61 6 57 54
1454832 1992
2
A novel mutation of apolipoprotein B in a French Canadian family with homozygous hypobetalipoproteinemia. 57 61 6
21981844 2011
3
Mental retardation and ataxia due to normotriglyceridemic hypobetalipoproteinemia. 61 57 6
15984016 2005
4
Apolipoprotein B-32: a new truncated mutant of human apolipoprotein B capable of forming particles in the low density lipoprotein range. 61 6 57
1562615 1992
5
Molecular and metabolic basis for the metabolic disorder normotriglyceridemic abetalipoproteinemia. 61 57 6
1939657 1991
6
Homozygous hypobetalipoproteinemia with spared chylomicron formation. 61 6 57
2909827 1989
7
Low plasma cholesterol levels caused by a short deletion in the apolipoprotein B gene. 61 6 57
3399894 1988
8
Genetic analysis of a kindred with familial hypobetalipoproteinemia. Evidence for two separate gene defects: one associated with an abnormal apolipoprotein B species, apolipoprotein B-37; and a second associated with low plasma concentrations of apolipoprotein B-100. 61 57 6
3473077 1987
9
Normotriglyceridemic abetalipoproteinemia. absence of the B-100 apolipoprotein. 61 57 6
7229035 1981
10
Metabolic studies in an unusual case of asymptomatic familial hypobetalipoproteinemia with hypolphalipoproteinemia and fasting chylomicronemia. 61 57 6
221546 1979
11
Homozygous familial hypobetalipoproteinemia. Increased LDL catabolism in hypobetalipoproteinemia due to a truncated apolipoprotein B species, apo B-87Padova. 61 6 54
8792774 1996
12
Lipoproteins containing the truncated apolipoprotein, Apo B-89, are cleared from human plasma more rapidly than Apo B-100-containing lipoproteins in vivo. 6 61 54
1602000 1992
13
Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. 57 61
24288038 2014
14
Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia. 6 61
12124991 2002
15
Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB splice site mutation. 61 6
11940084 2002
16
Genetic heterogeneity in familial hypobetalipoproteinemia: linkage and non-linkage to the apoB gene in Caucasian families. 57 61
9508071 1998
17
Familial hypobetalipoproteinemia. 57 61
8496659 1993
18
A novel truncated apolipoprotein B (apo B55) in a patient with familial hypobetalipoproteinemia and atypical retinitis pigmentosa. 6 61
1424233 1992
19
A truncated species of apolipoprotein B (B67) in a kindred with familial hypobetalipoproteinemia. 6 61
2022744 1991
20
Familial hypobetalipoproteinemia caused by a mutation in the apolipoprotein B gene that results in a truncated species of apolipoprotein B (B-31). A unique mutation that helps to define the portion of the apolipoprotein B molecule required for the formation of buoyant, triglyceride-rich lipoproteins. 6 61
2312735 1990
21
Two distinct truncated apolipoprotein B species in a kindred with hypobetalipoproteinemia. 6 61
2574033 1989
22
Hypobetalipoproteinemia due to an apolipoprotein B gene exon 21 deletion derived by Alu-Alu recombination. 6 61
2567736 1989
23
Familial hypobetalipoproteinemia associated with a mutant species of apolipoprotein B (B-46). 61 6
2725600 1989
24
Inference of a molecular defect of apolipoprotein B in hypobetalipoproteinemia by linkage analysis in a large kindred. 57 61
2901434 1988
25
Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproproteinemia at the molecular level. 61 57
2828430 1988
26
Endocrine changes during pregnancy in a patient with homozygous familial hypobetalipoproteinemia. 57 61
3945294 1986
27
Sterol balance in abetalipoproteinemia: studies in a patient with homozygous familial hypobetalipoproteinemia. 57 61
491973 1979
28
Familial hypobetalipoproteinemia. Absence of atherosclerosis in a postmortem study. 57 61
207903 1978
29
Neonatal familial hypobeta-lipoproteinemia. 61 57
178979 1976
30
The genetic relationship of abetalipoproteinemia and hypobetalipoproteinemia: a report of the occurence of both diseases within the same family. 57 61
164511 1975
31
Familial hypobetalipoproteinemia: report of a case with psychomotor retardation. 61 57
4365305 1974
32
Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations. 57
18492086 2008
33
Genetic analysis of a Japanese family with normotriglyceridemic abetalipoproteinemia indicates a lack of linkage to the apolipoprotein B gene. 6
1731805 1992
34
Familial hypobetalipoproteinaemia complicated by cerebellar ataxia and steatocystoma multiplex. 57
1997645 1991
35
Compound heterozygosity for abetalipoproteinaemia and familial hypobetalipoproteinaemia. 57
2319582 1990
36
Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia. 6
2903181 1988
37
Truncated variants of apolipoprotein B cause hypobetalipoproteinaemia. 6
2843815 1988
38
Apolipoprotein B-100 deficiency. Intestinal steatosis despite apolipoprotein B-48 synthesis. 6
4031057 1985
39
Normotriglyceridemic abetalipoproteinemia in infancy: an isolated apolipoprotein B-100 deficiency. 6
3975124 1985
40
Apolipoprotein B detected in the plasma of a patient with homozygous hypobetalipoproteinaemia: implications for aetiology. 57
6876109 1983
41
Familial hypo-beta-lipoproteinemia: a genetic disorder of lipid metabolism with nervous system involvement. 57
4978919 1969
42
On having no beta-lipoprotein. A syndrome comprising a-beta-lipoproteinaemia, acanthocytosis, and steatorrhoea. 57
13745738 1960
43
Recent progress in understanding protein and lipid factors affecting hepatic VLDL assembly and secretion. 54 61
20423497 2010
44
Thematic review series: patient-oriented research. What we have learned about VLDL and LDL metabolism from human kinetics studies. 61 54
16720894 2006
45
Mutation in apolipoprotein B associated with hypobetalipoproteinemia despite decreased binding to the low density lipoprotein receptor. 54 61
15797858 2005
46
Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia. 61 54
15910857 2005
47
Hypobetalipoproteinemia with an apparently recessive inheritance due to a "de novo" mutation of apolipoprotein B. 61 54
14732481 2004
48
[Familial hypobetalipoproteinemia]. 61 54
12781120 2003
49
Hepatitis C virus-associated hypobetalipoproteinemia is correlated with plasma viral load, steatosis, and liver fibrosis. 54 61
12809841 2003
50
In vivo metabolism of ApoB, ApoA-I, and VLDL triglycerides in a form of hypobetalipoproteinemia not linked to the ApoB gene. 54 61
10807747 2000

Variations for Hypobetalipoproteinemia, Familial, 1

ClinVar genetic disease variations for Hypobetalipoproteinemia, Familial, 1:

6 (show top 50) (show all 1001)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 APOB APOB, 1-BP DEL, 4432T Deletion Pathogenic 17899
2 APOB NM_000384.3(APOB):c.5463del (p.His1822fs) Deletion Pathogenic 17882 rs397514255 2:21234277-21234277 2:21011405-21011405
3 APOB NM_000384.3(APOB):c.3997C>T (p.Arg1333Ter) SNV Pathogenic 17883 rs121918383 2:21236251-21236251 2:21013379-21013379
4 APOB NM_000384.3(APOB):c.12181del (p.Glu4061fs) Deletion Pathogenic 17885 rs121918385 2:21226113-21226113 2:21003241-21003241
5 APOB NM_000384.3(APOB):c.4352del (p.Gly1451fs) Deletion Pathogenic 17889 rs397514256 2:21235388-21235388 2:21012516-21012516
6 APOB NM_000384.3(APOB):c.4429C>T (p.Gln1477Ter) SNV Pathogenic 17894 rs121918389 2:21235311-21235311 2:21012439-21012439
7 APOB NM_000384.3(APOB):c.5238T>G (p.Tyr1746Ter) SNV Pathogenic 440524 rs1553383898 2:21234502-21234502 2:21011630-21011630
8 APOB NM_000384.3(APOB):c.4089C>G (p.Tyr1363Ter) SNV Pathogenic 440525 rs1553384177 2:21236159-21236159 2:21013287-21013287
9 APOB NM_000384.3(APOB):c.2786del (p.Pro929fs) Deletion Pathogenic 440527 rs1553385404 2:21245733-21245733 2:21022861-21022861
10 APOB NM_000384.3(APOB):c.10633G>T (p.Glu3545Ter) SNV Pathogenic 440522 rs759934326 2:21229107-21229107 2:21006235-21006235
11 APOB NM_000384.3(APOB):c.9200del (p.Lys3067fs) Deletion Pathogenic 17892 rs121918387 2:21230540-21230540 2:21007668-21007668
12 APOB NM_000384.3(APOB):c.905-1_905dup Duplication Pathogenic 29608 rs606231236 2:21256389-21256390 2:21033517-21033518
13 APOB NM_000384.3(APOB):c.3614_3625delinsCTTAGG (p.His1205_Asn1209delinsProTer) Indel Pathogenic 440526 rs1553384441 2:21238016-21238027 2:21015144-21015155
14 APOB APOB, EX21DEL Deletion Pathogenic 17886
15 APOB NM_000384.3(APOB):c.9523del (p.Ala3175fs) Deletion Pathogenic 237754 rs878853973 2:21230217-21230217 2:21007345-21007345
16 APOB NM_000384.3(APOB):c.4089C>A (p.Tyr1363Ter) SNV Pathogenic 477784 rs1553384177 2:21236159-21236159 2:21013287-21013287
17 APOB NM_000384.3(APOB):c.6835C>T (p.Gln2279Ter) SNV Pathogenic 17893 rs121918388 2:21232905-21232905 2:21010033-21010033
18 APOB APOB, 4-BP DEL, NT36491 Deletion Pathogenic 17900
19 APOB NM_000384.3(APOB):c.3600T>A (p.Tyr1200Ter) SNV Pathogenic 17901 rs121918391 2:21238041-21238041 2:21015169-21015169
20 APOB NM_000384.3(APOB):c.819-2A>G SNV Pathogenic 17898 rs1572800245 2:21257775-21257775 2:21034903-21034903
21 APOB NM_000384.3(APOB):c.5116dup (p.Thr1706fs) Duplication Pathogenic 404409 rs1553383931 2:21234623-21234624 2:21011751-21011752
22 APOB NM_000384.3(APOB):c.5263_5266del (p.Asn1755fs) Deletion Pathogenic 17881 rs281865425 2:21234474-21234477 2:21011602-21011605
23 APOB NM_000384.3(APOB):c.5566_5567del (p.Val1856fs) Deletion Pathogenic 17884 rs121918384 2:21234173-21234174 2:21011301-21011302
24 APOB NM_000384.3(APOB):c.6253C>T (p.Arg2085Ter) SNV Pathogenic 17887 rs121918386 2:21233487-21233487 2:21010615-21010615
25 APOB NM_000384.3(APOB):c.7564C>T (p.Arg2522Ter) SNV Pathogenic 17895 rs121918390 2:21232176-21232176 2:21009304-21009304
26 APOB NM_000384.3(APOB):c.11712del (p.Asn3904fs) Deletion Pathogenic 17896 rs587776852 2:21228028-21228028 2:21005156-21005156
27 APOB NM_000384.2(APOB):c.11905del (p.Glu3969Asnfs) Deletion Pathogenic 17888 rs387906569 2:21227323-21227323 2:21004451-21004451
28 APOB NM_000384.3(APOB):c.1830-1G>A SNV Pathogenic 477783 rs1399892057 2:21250938-21250938 2:21028066-21028066
29 APOB NM_000384.3(APOB):c.1672C>T (p.Arg558Ter) SNV Pathogenic 237741 rs878853970 2:21251356-21251356 2:21028484-21028484
30 APOB NM_000384.3(APOB):c.2988_2994del (p.Gly997fs) Deletion Pathogenic 374255 rs1057518647 2:21242600-21242606 2:21019728-21019734
31 APOB NM_000384.3(APOB):c.10238del (p.Thr3413fs) Deletion Pathogenic 434252 rs756209187 2:21229502-21229502 2:21006630-21006630
32 APOB NM_000384.3(APOB):c.7605C>A (p.Tyr2535Ter) SNV Pathogenic 544071 rs1553383473 2:21232135-21232135 2:21009263-21009263
33 APOB NM_000384.3(APOB):c.9110_9114TTTTC[1] (p.Phe3039fs) Microsatellite Pathogenic 544076 rs1215189537 2:21230621-21230625 2:21007749-21007753
34 APOB NM_000384.3(APOB):c.6543del (p.Phe2181fs) Deletion Pathogenic 569699 rs1558564161 2:21233197-21233197 2:21010325-21010325
35 APOB NM_000384.3(APOB):c.7537C>T (p.Arg2513Ter) SNV Pathogenic 69511 rs146538280 2:21232203-21232203 2:21009331-21009331
36 APOB NM_000384.3(APOB):c.4503T>G (p.Tyr1501Ter) SNV Pathogenic 577519 rs368825685 2:21235237-21235237 2:21012365-21012365
37 APOB3'MAR NC_000002.12:g.(?_21001710)_(21035728_?)del Deletion Pathogenic 544130 2:21224582-21258600 2:21001710-21035728
38 APOB NM_000384.3(APOB):c.671del (p.Pro224fs) Deletion Pathogenic 648832 rs1572801523 2:21259994-21259994 2:21037122-21037122
39 APOB NM_000384.3(APOB):c.5316del (p.Asn1772fs) Deletion Pathogenic 838558 2:21234424-21234424 2:21011552-21011552
40 APOB NM_000384.3(APOB):c.10238del (p.Thr3413fs) Deletion Pathogenic 434252 rs756209187 2:21229502-21229502 2:21006630-21006630
41 APOB NM_000384.3(APOB):c.8392G>T (p.Glu2798Ter) SNV Pathogenic 843259 2:21231348-21231348 2:21008476-21008476
42 APOB NM_000384.3(APOB):c.4006C>T (p.Gln1336Ter) SNV Pathogenic 855100 2:21236242-21236242 2:21013370-21013370
43 APOB NM_000384.3(APOB):c.9180dup (p.Pro3061fs) Duplication Pathogenic 853099 2:21230559-21230560 2:21007687-21007688
44 APOB NM_000384.3(APOB):c.5263_5266del (p.Asn1755fs) Deletion Pathogenic 17881 rs281865425 2:21234474-21234477 2:21011602-21011605
45 APOB NM_000384.3(APOB):c.11060_11061delinsAA (p.Phe3687Ter) Indel Pathogenic 939237 2:21228679-21228680 2:21005807-21005808
46 APOB NM_000384.3(APOB):c.2060del (p.Leu687fs) Deletion Pathogenic 959104 2:21250707-21250707 2:21027835-21027835
47 APOB NM_000384.3(APOB):c.7403del (p.Leu2468fs) Deletion Pathogenic 950577 2:21232337-21232337 2:21009465-21009465
48 APOB NM_000384.3(APOB):c.11764C>T (p.Gln3922Ter) SNV Pathogenic 951011 2:21227976-21227976 2:21005104-21005104
49 APOB NM_000384.3(APOB):c.9110_9114TTTTC[1] (p.Phe3039fs) Microsatellite Pathogenic 544076 rs1215189537 2:21230621-21230625 2:21007749-21007753
50 APOB NM_000384.3(APOB):c.409G>T (p.Glu137Ter) SNV Pathogenic 404400 rs766243954 2:21260958-21260958 2:21038086-21038086

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

73
# Symbol AA change Variation ID SNP ID
1 APOB p.Arg490Trp VAR_022610 rs771541567

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:

36
# 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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.75 SAR1B PCSK9 MTTP LCAT FURIN APOE
2
Show member pathways
12.45 APOE APOC3 APOC2 APOB APOA4 APOA1
3
Show member pathways
12 SAR1B PCSK9 MTTP LCAT FURIN APOE
4
Show member pathways
11.96 APOE APOC3 APOC2 APOB APOA4 APOA1
5 11.86 APOE APOA5 APOA4 APOA1
6
Show member pathways
11.81 PCSK9 MTTP LCAT APOE APOC3 APOC2
7
Show member pathways
11.69 APOE APOB APOA1
8 11.53 APOC3 APOA5 APOA1
9
Show member pathways
11.29 MTTP APOB APOA4 APOA1
10 11.02 APOC3 APOA5 APOA1
11 10.96 APOB APOA4 APOA1
12 10.79 APOA4 APOA1

GO Terms for Hypobetalipoproteinemia, Familial, 1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.21 PCSK9 LCAT FURIN APOE APOC3 APOC2
2 extracellular space GO:0005615 10.2 PCSK9 LCAT FURIN APOE APOC3 APOC2
3 Golgi apparatus GO:0005794 10.11 SLC35A3 SAR1B PCSK9 MTTP FURIN APOE
4 endoplasmic reticulum GO:0005783 10.09 SAR1B PCSK9 MTTP FURIN APOE APOC1
5 early endosome GO:0005769 9.97 PCSK9 APOE APOC3 APOC2 APOB APOA5
6 cell surface GO:0009986 9.96 PCSK9 FURIN APOA4 APOA1 ANGPTL3
7 endoplasmic reticulum lumen GO:0005788 9.95 PCSK9 MTTP APOE APOB APOA5 APOA4
8 collagen-containing extracellular matrix GO:0062023 9.93 APOE APOC3 APOA4 APOA1 ANGPTL3
9 low-density lipoprotein particle GO:0034362 9.77 APOE APOC2 APOB APOA5 APOA1
10 chylomicron GO:0042627 9.76 APOE APOC3 APOC2 APOC1 APOB APOA5
11 blood microparticle GO:0072562 9.74 APOE APOA4 APOA1
12 endocytic vesicle lumen GO:0071682 9.67 APOE APOB APOA1
13 spherical high-density lipoprotein particle GO:0034366 9.65 APOC3 APOC2 APOA1
14 intermediate-density lipoprotein particle GO:0034363 9.65 APOE APOC3 APOC2 APOB APOA1
15 high-density lipoprotein particle GO:0034364 9.56 LCAT APOE APOC2 APOC1 APOB APOA5
16 discoidal high-density lipoprotein particle GO:0034365 9.52 APOE APOA1
17 very-low-density lipoprotein particle GO:0034361 9.23 APOE APOC3 APOC2 APOC1 APOB APOA5

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

(show top 50) (show all 65)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 10.26 PCSK9 MTTP LCAT APOE APOC3 APOC2
2 cellular protein metabolic process GO:0044267 10.14 PCSK9 FURIN APOE APOB APOA5 APOA4
3 lipid transport GO:0006869 10.11 MTTP APOE APOC3 APOC2 APOC1 APOB
4 post-translational protein modification GO:0043687 10.1 PCSK9 APOE APOB APOA5 APOA1
5 cholesterol metabolic process GO:0008203 10.09 PCSK9 LCAT APOE APOB APOA4 APOA1
6 steroid metabolic process GO:0008202 10.07 PCSK9 LCAT APOE APOB APOA1
7 retinoid metabolic process GO:0001523 10.04 APOE APOC3 APOC2 APOB APOA4 APOA1
8 triglyceride homeostasis GO:0070328 10.02 APOE APOC3 APOC2 APOA5 APOA4 APOA1
9 triglyceride metabolic process GO:0006641 10.01 PCSK9 MTTP APOE APOC3 APOC1 APOA5
10 lipid catabolic process GO:0016042 10 APOC3 APOC2 APOB APOA4
11 intermembrane lipid transfer GO:0120009 10 MTTP APOE APOB APOA4 APOA1
12 phospholipid metabolic process GO:0006644 9.98 PCSK9 LCAT APOA1 ANGPTL3
13 reverse cholesterol transport GO:0043691 9.97 LCAT APOE APOC3 APOC2 APOA4 APOA1
14 phosphatidylcholine metabolic process GO:0046470 9.93 LCAT APOA5 APOA4 APOA1
15 positive regulation of lipid biosynthetic process GO:0046889 9.93 APOE APOA5 APOA4 APOA1
16 positive regulation of fatty acid biosynthetic process GO:0045723 9.92 APOC2 APOA5 APOA4 APOA1
17 high-density lipoprotein particle assembly GO:0034380 9.92 APOE APOA5 APOA4 APOA1
18 positive regulation of cholesterol esterification GO:0010873 9.92 APOE APOC1 APOA5 APOA4 APOA1
19 very-low-density lipoprotein particle assembly GO:0034379 9.91 MTTP APOC3 APOC1 APOB
20 chylomicron remnant clearance GO:0034382 9.91 APOE APOC3 APOC2 APOC1 APOB
21 very-low-density lipoprotein particle remodeling GO:0034372 9.91 LCAT APOE APOC2 APOA5 APOA4 APOA1
22 chylomicron assembly GO:0034378 9.91 MTTP APOE APOC3 APOC2 APOB APOA4
23 lipid homeostasis GO:0055088 9.89 APOE APOA4 ANGPTL3
24 positive regulation of lipoprotein lipase activity GO:0051006 9.89 APOC2 APOA5 APOA4 APOA1
25 cholesterol biosynthetic process GO:0006695 9.88 APOA5 APOA4 APOA1
26 positive regulation of triglyceride catabolic process GO:0010898 9.88 APOC2 APOA5 APOA4 APOA1
27 lipoprotein biosynthetic process GO:0042158 9.88 LCAT APOE APOB APOA1
28 chylomicron remodeling GO:0034371 9.88 APOE APOC3 APOC2 APOB APOA4 APOA1
29 high-density lipoprotein particle remodeling GO:0034375 9.87 LCAT APOE APOC3 APOC2 APOC1 APOA4
30 triglyceride catabolic process GO:0019433 9.86 APOC3 APOB APOA5
31 artery morphogenesis GO:0048844 9.86 APOE APOB ANGPTL3
32 cholesterol transport GO:0030301 9.86 LCAT APOB APOA1
33 low-density lipoprotein particle remodeling GO:0034374 9.85 MTTP APOE APOB
34 high-density lipoprotein particle clearance GO:0034384 9.85 APOE APOC2 APOA1
35 negative regulation of lipoprotein lipase activity GO:0051005 9.84 APOC3 APOC1 ANGPTL3
36 negative regulation of receptor-mediated endocytosis GO:0048261 9.84 APOC3 APOC2 APOC1
37 regulation of Cdc42 protein signal transduction GO:0032489 9.83 APOE APOC3 APOA1
38 very-low-density lipoprotein particle clearance GO:0034447 9.83 APOE APOC1 APOB
39 regulation of cholesterol transport GO:0032374 9.83 FURIN APOC1 APOA4
40 negative regulation of lipid metabolic process GO:0045833 9.82 APOC3 APOC2 APOC1
41 regulation of intestinal cholesterol absorption GO:0030300 9.82 APOA5 APOA4 APOA1
42 negative regulation of very-low-density lipoprotein particle clearance GO:0010916 9.81 APOC3 APOC2 APOC1
43 phospholipid efflux GO:0033700 9.8 APOE APOC3 APOC2 APOC1 APOA5 APOA4
44 cholesterol efflux GO:0033344 9.76 APOE APOC3 APOC2 APOC1 APOB APOA5
45 lipid storage GO:0019915 9.74 APOA1 ANGPTL3
46 low-density lipoprotein particle clearance GO:0034383 9.73 PCSK9 APOB
47 positive regulation of cholesterol efflux GO:0010875 9.73 APOE APOA1
48 negative regulation of lipid catabolic process GO:0050995 9.73 APOC3 APOC1
49 negative regulation of fatty acid biosynthetic process GO:0045717 9.73 APOC3 APOC1
50 negative regulation of low-density lipoprotein particle clearance GO:0010989 9.73 PCSK9 APOC3

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.91 MTTP APOE APOC3 APOC2 APOA5 APOA4
2 heparin binding GO:0008201 9.84 APOE APOB APOA5 ANGPTL3
3 phospholipid binding GO:0005543 9.8 APOE APOC3 APOB APOA5 APOA4 APOA1
4 cholesterol binding GO:0015485 9.76 APOC3 APOA5 APOA4 APOA1
5 phosphatidylcholine binding GO:0031210 9.73 APOC1 APOA5 APOA4 APOA1
6 low-density lipoprotein particle receptor binding GO:0050750 9.71 PCSK9 APOE APOB APOA5
7 lipid transporter activity GO:0005319 9.65 MTTP APOE APOB APOA4 APOA1
8 antioxidant activity GO:0016209 9.58 APOE APOA4
9 apolipoprotein binding GO:0034185 9.58 PCSK9 MTTP
10 phospholipase inhibitor activity GO:0004859 9.57 APOC1 ANGPTL3
11 lipoprotein particle binding GO:0071813 9.56 APOE APOA1
12 lipase binding GO:0035473 9.55 APOB APOA5
13 very-low-density lipoprotein particle receptor binding GO:0070326 9.52 PCSK9 APOE
14 high-density lipoprotein particle receptor binding GO:0070653 9.51 APOC3 APOA1
15 lipoprotein lipase activator activity GO:0060230 9.49 APOC2 APOA5
16 apolipoprotein receptor binding GO:0034190 9.48 PCSK9 APOA1
17 lipase inhibitor activity GO:0055102 9.46 APOC3 APOC2 APOC1 APOA1
18 intermembrane cholesterol transfer activity GO:0120020 9.35 MTTP APOE APOB APOA4 APOA1
19 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.02 APOE APOC1 APOA5 APOA4 APOA1

Sources for Hypobetalipoproteinemia, Familial, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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