FHBL1
MCID: HYP818
MIFTS: 56

Hypobetalipoproteinemia, Familial, 1 (FHBL1)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases

Aliases & Classifications for Hypobetalipoproteinemia, Familial, 1

MalaCards integrated aliases for Hypobetalipoproteinemia, Familial, 1:

Name: Hypobetalipoproteinemia, Familial, 1 56 73 29 6
Familial Hypobetalipoproteinemia 73 36 29 6 71
Hypobetalipoproteinemia, Normotriglyceridemic 56 29 6
Hypobetalipoproteinemia 56 12 15
Fhbl1 56 12 73
Acanthocytosis with Hypobetalipoproteinemia 56 73
Familial Hypobetalipoproteinemia 1 12 15
Hypobetalipoproteinemia, Familial 56 39
Hypobetalipoproteinemias 43 71
Fhbl 56 73
Normotriglyceridemic Hypobetalipoproteinemia 73
Hypobetalipoproteinemia, Familial, Type 1 39
Hypobetalipoproteinemia, Familial; Fhbl 56
Hypobetalipoprotéinemia, Familial 74
Hypo-Beta-Lipoproteinemia 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
hypobetalipoproteinemia, familial, 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111062 DOID:1390
OMIM 56 615558
KEGG 36 H01270
MeSH 43 D006995
SNOMED-CT 67 190786004
UMLS 71 C0020597 C1862596

Summaries for Hypobetalipoproteinemia, Familial, 1

OMIM : 56 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)

MalaCards based summary : Hypobetalipoproteinemia, Familial, 1, also known as familial 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 adipocyte, and related phenotypes are rod-cone dystrophy and ataxia

Disease Ontology : 12 A hypobetalipoproteinemia that has material basis in mutation in the APOB gene on chromosome 2p24.

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 117)
# Related Disease Score Top Affiliating Genes
1 chylomicron retention disease 32.5 SAR1B MTTP MIA2 APOB APOA4
2 hypobetalipoproteinemia, familial, 2 32.3 PCSK9 APOB ANGPTL3
3 hypolipoproteinemia 31.5 SAR1B PCSK9 MTTP COG2 APOC3 APOC2
4 abetalipoproteinemia 30.7 SAR1B PCSK9 MTTP LGALS1 COG2 APOC2
5 hypercholesterolemia, familial, 1 30.3 PCSK9 COG2 APOB
6 hypertriglyceridemia, familial 29.9 APOC3 APOC2 APOB APOA5
7 atherosclerosis susceptibility 29.9 PCSK9 COG2 APOC3 APOB ANGPTL3
8 hyperlipoproteinemia, type iii 29.7 APOB APOA5
9 coronary heart disease 1 29.5 COG2 APOC3 APOB APOA5 APOA4
10 lipid metabolism disorder 29.4 PCSK9 MTTP COG2 APOC3 APOB APOA5
11 diabetes mellitus 28.7 PCSK9 COG2 APOC3 APOC2 APOB APOA5
12 vascular disease 28.7 PCSK9 COG2 APOH APOC3 APOC2 APOB
13 familial hypercholesterolemia 28.6 PCSK9 MTTP COG2 APOC3 APOB APOA5
14 diabetes mellitus, noninsulin-dependent 27.3 PCSK9 MTTP EEF1A2 COG2 APOC3 APOC2
15 nguyen syndrome 11.7
16 fatty liver disease 10.7
17 fatty liver disease, nonalcoholic 1 10.6
18 non-alcoholic fatty liver disease 10.4
19 liver disease 10.4
20 liver cirrhosis 10.3
21 defective apolipoprotein b-100 10.3 PCSK9 APOB
22 48,xyyy 10.3
23 silent myocardial infarction 10.3 COG2 APOB
24 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.3
25 deficiency anemia 10.3
26 protein-losing enteropathy 10.3
27 necrobiosis lipoidica 10.3
28 sideroblastic anemia 10.3
29 lymphangiectasis 10.3
30 spastic paraparesis 10.3
31 generalized atherosclerosis 10.2 COG2 APOB
32 retinitis pigmentosa 10.2
33 huntington disease-like 2 10.2
34 neuroretinitis 10.2
35 retinitis 10.2
36 familial apolipoprotein c-ii deficiency 10.2 APOC3 APOC2
37 homozygous familial hypercholesterolemia 10.2 PCSK9 APOB
38 non-alcoholic steatohepatitis 10.2
39 arcus corneae 10.2 PCSK9 COG2 APOB
40 corneal degeneration 10.2 PCSK9 COG2 APOB
41 sitosterolemia 10.1 PCSK9 MTTP APOB
42 hemochromatosis, type 1 10.1
43 smith-lemli-opitz syndrome 10.1
44 vitamin e, familial isolated deficiency of 10.1
45 opitz gbbb syndrome, type i 10.1
46 huntington disease-like 3 10.1
47 hepatitis c virus 10.1
48 cholelithiasis 10.1
49 hepatitis c 10.1
50 retinal degeneration 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:

56
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

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

Drugs & Therapeutics for Hypobetalipoproteinemia, Familial, 1

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

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tocopherol Approved, Investigational Phase 3 1406-66-2, 54-28-4 14986
2
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
3 Tocotrienol Investigational Phase 3 6829-55-6
4 Micronutrients Phase 3
5 Vitamins Phase 3
6 Trace Elements Phase 3
7 Antioxidants Phase 3
8 Protective Agents Phase 3
9 Nutrients Phase 3
10 Tocotrienols Phase 3
11 Tocopherols Phase 3
12
Mipomersen Approved, Investigational Phase 2 1000120-98-8
13 Hypolipidemic Agents Phase 2
14 Lipid Regulating Agents Phase 2
15 Liver Extracts Phase 2
16 Anticholesteremic Agents Phase 2
17 Antimetabolites Phase 2
18 Hydroxymethylglutaryl-CoA Reductase Inhibitors 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 A Randomized, Double-Blind, Placebo-Controlled Study to Assess Safety and Efficacy of ISIS 301012 Administration in High Risk Statin Intolerant Subjects Completed NCT00707746 Phase 2 mipomersen;placebo
4 Prevalence Assessment and Characterization of Psychological Disorders Associated With Hypobetalipoproteinemia Completed NCT02889614
5 Mechanisms of Low Levels of Apolipoprotein B Completed NCT00005565
6 Prevalence of fAmilial hypobetalipopRoTeinemIa in psychiaTrIc pOpulatioN Recruiting NCT03549637
7 HYPOCHOL : A Genetically-based Strategy to Identify New Targets in Cholesterol Metabolism Recruiting NCT02354079
8 Characterization of Two Novel Truncating Mutations in the Apob Gene Leading to Hypobetalipoproteinemia: A Pilot Study Recruiting NCT03963037

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

Anatomical Context for Hypobetalipoproteinemia, Familial, 1

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

40
Liver, Heart, Adipocyte

Publications for Hypobetalipoproteinemia, Familial, 1

Articles related to Hypobetalipoproteinemia, Familial, 1:

(show top 50) (show all 215)
# Title Authors PMID Year
1
Low plasma cholesterol levels caused by a short deletion in the apolipoprotein B gene. 56 6 61
3399894 1988
2
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. 56 6 61
3473077 1987
3
Metabolic studies in an unusual case of asymptomatic familial hypobetalipoproteinemia with hypolphalipoproteinemia and fasting chylomicronemia. 61 56 6
221546 1979
4
A novel mutation of apolipoprotein B in a French Canadian family with homozygous hypobetalipoproteinemia. 56 6
21981844 2011
5
Mental retardation and ataxia due to normotriglyceridemic hypobetalipoproteinemia. 6 56
15984016 2005
6
Reading-frame restoration with an apolipoprotein B gene frameshift mutation. 56 6
1454832 1992
7
Apolipoprotein B-32: a new truncated mutant of human apolipoprotein B capable of forming particles in the low density lipoprotein range. 56 6
1562615 1992
8
Molecular and metabolic basis for the metabolic disorder normotriglyceridemic abetalipoproteinemia. 6 56
1939657 1991
9
Homozygous hypobetalipoproteinemia with spared chylomicron formation. 6 56
2909827 1989
10
Normotriglyceridemic abetalipoproteinemia. absence of the B-100 apolipoprotein. 6 56
7229035 1981
11
Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia. 6 61
12124991 2002
12
Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB splice site mutation. 6 61
11940084 2002
13
Genetic heterogeneity in familial hypobetalipoproteinemia: linkage and non-linkage to the apoB gene in Caucasian families. 61 56
9508071 1998
14
Homozygous familial hypobetalipoproteinemia. Increased LDL catabolism in hypobetalipoproteinemia due to a truncated apolipoprotein B species, apo B-87Padova. 61 6
8792774 1996
15
Familial hypobetalipoproteinemia. 61 56
8496659 1993
16
A novel truncated apolipoprotein B (apo B55) in a patient with familial hypobetalipoproteinemia and atypical retinitis pigmentosa. 6 61
1424233 1992
17
A truncated species of apolipoprotein B (B67) in a kindred with familial hypobetalipoproteinemia. 61 6
2022744 1991
18
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
19
Familial hypobetalipoproteinemia associated with a mutant species of apolipoprotein B (B-46). 61 6
2725600 1989
20
Endocrine changes during pregnancy in a patient with homozygous familial hypobetalipoproteinemia. 56 61
3945294 1986
21
Sterol balance in abetalipoproteinemia: studies in a patient with homozygous familial hypobetalipoproteinemia. 56 61
491973 1979
22
Familial hypobetalipoproteinemia. Absence of atherosclerosis in a postmortem study. 61 56
207903 1978
23
Neonatal familial hypobeta-lipoproteinemia. 56 61
178979 1976
24
Familial hypobetalipoproteinemia: report of a case with psychomotor retardation. 61 56
4365305 1974
25
Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. 56
24288038 2014
26
Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations. 56
18492086 2008
27
Lipoproteins containing the truncated apolipoprotein, Apo B-89, are cleared from human plasma more rapidly than Apo B-100-containing lipoproteins in vivo. 6
1602000 1992
28
Genetic analysis of a Japanese family with normotriglyceridemic abetalipoproteinemia indicates a lack of linkage to the apolipoprotein B gene. 6
1731805 1992
29
Familial hypobetalipoproteinaemia complicated by cerebellar ataxia and steatocystoma multiplex. 56
1997645 1991
30
Compound heterozygosity for abetalipoproteinaemia and familial hypobetalipoproteinaemia. 56
2319582 1990
31
Two distinct truncated apolipoprotein B species in a kindred with hypobetalipoproteinemia. 6
2574033 1989
32
Hypobetalipoproteinemia due to an apolipoprotein B gene exon 21 deletion derived by Alu-Alu recombination. 6
2567736 1989
33
Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia. 6
2903181 1988
34
Inference of a molecular defect of apolipoprotein B in hypobetalipoproteinemia by linkage analysis in a large kindred. 56
2901434 1988
35
Truncated variants of apolipoprotein B cause hypobetalipoproteinaemia. 6
2843815 1988
36
Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproproteinemia at the molecular level. 56
2828430 1988
37
Apolipoprotein B-100 deficiency. Intestinal steatosis despite apolipoprotein B-48 synthesis. 6
4031057 1985
38
Normotriglyceridemic abetalipoproteinemia in infancy: an isolated apolipoprotein B-100 deficiency. 6
3975124 1985
39
Apolipoprotein B detected in the plasma of a patient with homozygous hypobetalipoproteinaemia: implications for aetiology. 56
6876109 1983
40
The genetic relationship of abetalipoproteinemia and hypobetalipoproteinemia: a report of the occurence of both diseases within the same family. 56
164511 1975
41
Familial hypo-beta-lipoproteinemia: a genetic disorder of lipid metabolism with nervous system involvement. 56
4978919 1969
42
On having no beta-lipoprotein. A syndrome comprising a-beta-lipoproteinaemia, acanthocytosis, and steatorrhoea. 56
13745738 1960
43
Hypobetalipoproteinemia and abetalipoproteinemia: liver disease and cardiovascular disease. 61
32039990 2020
44
A Rare Mutation in The APOB Gene Associated with Neurological Manifestations in Familial Hypobetalipoproteinemia. 61
32093271 2020
45
A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene. 61
32173689 2020
46
In vitro functional characterization of splicing variants of the APOB gene found in familial hypobetalipoproteinemia. 61
31629702 2019
47
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders. 61
31653860 2019
48
Extremely low levels of low-density lipoprotein potentially suggestive of familial hypobetalipoproteinemia: A separate phenotype of NAFLD? 61
30879942 2019
49
Rare Protein-Truncating Variants in APOB, Lower Low-Density Lipoprotein Cholesterol, and Protection Against Coronary Heart Disease. 61
30939045 2019
50
Molecular analysis of APOB, SAR1B, ANGPTL3, and MTTP in patients with primary hypocholesterolemia in a clinical laboratory setting: Evidence supporting polygenicity in mutation-negative patients. 61
30782561 2019

Variations for Hypobetalipoproteinemia, Familial, 1

ClinVar genetic disease variations for Hypobetalipoproteinemia, Familial, 1:

6 (show top 50) (show all 672) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 APOB NM_000384.3(APOB):c.409G>T (p.Glu137Ter)SNV Pathogenic 404400 rs766243954 2:21260958-21260958 2:21038086-21038086
2 APOB NM_000384.3(APOB):c.5116dup (p.Thr1706fs)duplication Pathogenic 404409 rs1553383931 2:21234623-21234624 2:21011751-21011752
3 APOB NM_000384.3(APOB):c.10238del (p.Thr3413fs)deletion Pathogenic 434252 rs756209187 2:21229502-21229502 2:21006630-21006630
4 APOB NM_000384.3(APOB):c.5238T>G (p.Tyr1746Ter)SNV Pathogenic 440524 rs1553383898 2:21234502-21234502 2:21011630-21011630
5 APOB NM_000384.3(APOB):c.4089C>G (p.Tyr1363Ter)SNV Pathogenic 440525 rs1553384177 2:21236159-21236159 2:21013287-21013287
6 APOB NM_000384.3(APOB):c.10633G>T (p.Glu3545Ter)SNV Pathogenic 440522 rs759934326 2:21229107-21229107 2:21006235-21006235
7 APOB NM_000384.3(APOB):c.3614_3625delinsCTTAGG (p.His1205_Asn1209delinsProTer)indel Pathogenic 440526 rs1553384441 2:21238016-21238027 2:21015144-21015155
8 APOB NM_000384.3(APOB):c.2786del (p.Pro929fs)deletion Pathogenic 440527 rs1553385404 2:21245733-21245733 2:21022861-21022861
9 APOB NM_000384.3(APOB):c.4089C>A (p.Tyr1363Ter)SNV Pathogenic 477784 rs1553384177 2:21236159-21236159 2:21013287-21013287
10 APOB NM_000384.3(APOB):c.1830-1G>ASNV Pathogenic 477783 rs1399892057 2:21250938-21250938 2:21028066-21028066
11 APOB NC_000002.12:g.(?_21001710)_(21035728_?)deldeletion Pathogenic 544130 2:21224582-21258600 2:21001710-21035728
12 APOB NM_000384.3(APOB):c.9110_9114TTTTC[1] (p.Phe3039fs)short repeat Pathogenic 544076 rs1215189537 2:21230621-21230625 2:21007749-21007753
13 APOB NM_000384.3(APOB):c.7605C>A (p.Tyr2535Ter)SNV Pathogenic 544071 rs1553383473 2:21232135-21232135 2:21009263-21009263
14 APOB NM_000384.3(APOB):c.6543del (p.Phe2181fs)deletion Pathogenic 569699 rs1558564161 2:21233197-21233197 2:21010325-21010325
15 APOB NM_000384.3(APOB):c.4503T>G (p.Tyr1501Ter)SNV Pathogenic 577519 rs368825685 2:21235237-21235237 2:21012365-21012365
16 APOB NM_000384.3(APOB):c.671del (p.Pro224fs)deletion Pathogenic 648832 2:21259994-21259994 2:21037122-21037122
17 APOB NM_000384.3(APOB):c.8392G>T (p.Glu2798Ter)SNV Pathogenic 843259 2:21231348-21231348 2:21008476-21008476
18 APOB NM_000384.3(APOB):c.9180dup (p.Pro3061fs)duplication Pathogenic 853099 2:21230559-21230560 2:21007687-21007688
19 APOB NM_000384.3(APOB):c.5316del (p.Asn1772fs)deletion Pathogenic 838558 2:21234424-21234424 2:21011552-21011552
20 APOB NM_000384.3(APOB):c.4006C>T (p.Gln1336Ter)SNV Pathogenic 855100 2:21236242-21236242 2:21013370-21013370
21 APOB NM_000384.3(APOB):c.5263_5266del (p.Asn1755fs)deletion Pathogenic 17881 rs281865425 2:21234474-21234477 2:21011602-21011605
22 APOB NM_000384.3(APOB):c.5463del (p.His1822fs)deletion Pathogenic 17882 rs397514255 2:21234277-21234277 2:21011405-21011405
23 APOB NM_000384.3(APOB):c.3997C>T (p.Arg1333Ter)SNV Pathogenic 17883 rs121918383 2:21236251-21236251 2:21013379-21013379
24 APOB NM_000384.3(APOB):c.5566_5567del (p.Val1856fs)deletion Pathogenic 17884 rs121918384 2:21234173-21234174 2:21011301-21011302
25 APOB NM_000384.3(APOB):c.12181del (p.Glu4061fs)deletion Pathogenic 17885 rs121918385 2:21226113-21226113 2:21003241-21003241
26 APOB APOB, EX21DELdeletion Pathogenic 17886
27 APOB NM_000384.3(APOB):c.6253C>T (p.Arg2085Ter)SNV Pathogenic 17887 rs121918386 2:21233487-21233487 2:21010615-21010615
28 APOB NM_000384.2(APOB):c.11905del (p.Glu3969Asnfs)deletion Pathogenic 17888 rs387906569 2:21227323-21227323 2:21004451-21004451
29 APOB NM_000384.3(APOB):c.4352del (p.Gly1451fs)deletion Pathogenic 17889 rs397514256 2:21235388-21235388 2:21012516-21012516
30 APOB NM_000384.3(APOB):c.9200del (p.Lys3067fs)deletion Pathogenic 17892 rs121918387 2:21230540-21230540 2:21007668-21007668
31 APOB NM_000384.3(APOB):c.6835C>T (p.Gln2279Ter)SNV Pathogenic 17893 rs121918388 2:21232905-21232905 2:21010033-21010033
32 APOB NM_000384.3(APOB):c.4429C>T (p.Gln1477Ter)SNV Pathogenic 17894 rs121918389 2:21235311-21235311 2:21012439-21012439
33 APOB NM_000384.3(APOB):c.11712del (p.Asn3904fs)deletion Pathogenic 17896 rs587776852 2:21228028-21228028 2:21005156-21005156
34 APOB NM_000384.3(APOB):c.819-2A>GSNV Pathogenic 17898 2:21257775-21257775 2:21034903-21034903
35 APOB APOB, 1-BP DEL, 4432Tdeletion Pathogenic 17899
36 APOB APOB, 4-BP DEL, NT36491deletion Pathogenic 17900
37 APOB NM_000384.3(APOB):c.3600T>A (p.Tyr1200Ter)SNV Pathogenic 17901 rs121918391 2:21238041-21238041 2:21015169-21015169
38 APOB NM_000384.3(APOB):c.905-1_905dupduplication Pathogenic 29608 rs606231236 2:21256389-21256390 2:21033517-21033518
39 APOB NM_000384.3(APOB):c.7537C>T (p.Arg2513Ter)SNV Pathogenic 69511 2:21232203-21232203 2:21009331-21009331
40 APOB NM_000384.3(APOB):c.9523del (p.Ala3175fs)deletion Pathogenic 237754 rs878853973 2:21230217-21230217 2:21007345-21007345
41 APOB NM_000384.3(APOB):c.1672C>T (p.Arg558Ter)SNV Pathogenic 237741 rs878853970 2:21251356-21251356 2:21028484-21028484
42 APOB NM_000384.3(APOB):c.7564C>T (p.Arg2522Ter)SNV Pathogenic/Likely pathogenic 17895 rs121918390 2:21232176-21232176 2:21009304-21009304
43 APOB NM_000384.3(APOB):c.4571C>T (p.Ser1524Phe)SNV Likely pathogenic 827637 2:21235169-21235169 2:21012297-21012297
44 APOB NM_000384.3(APOB):c.1279C>T (p.Arg427Ter)SNV Likely pathogenic 827638 2:21255299-21255299 2:21032427-21032427
45 APOB NM_000384.3(APOB):c.1054G>T (p.Val352Phe)SNV Likely pathogenic 827639 2:21256241-21256241 2:21033369-21033369
46 APOB NM_000384.3(APOB):c.11789-1G>CSNV Likely pathogenic 580451 rs1558560212 2:21227548-21227548 2:21004676-21004676
47 APOB NM_000384.3(APOB):c.2988_2994del (p.Gly997fs)deletion Likely pathogenic 374255 rs1057518647 2:21242600-21242606 2:21019728-21019734
48 APOB NM_000384.3(APOB):c.1648G>C (p.Asp550His)SNV Conflicting interpretations of pathogenicity 375860 rs145862664 2:21251380-21251380 2:21028508-21028508
49 APOB NM_000384.3(APOB):c.307T>C (p.Tyr103His)SNV Conflicting interpretations of pathogenicity 391716 rs9282603 2:21263886-21263886 2:21041014-21041014
50 APOB NM_000384.3(APOB):c.12382G>A (p.Val4128Met)SNV Conflicting interpretations of pathogenicity 384812 rs1801703 2:21225912-21225912 2:21003040-21003040

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 SAR1B PCSK9 MTTP FURIN APOC3 APOC2
2
Show member pathways
12.31 APOC3 APOC2 APOB APOA4
3
Show member pathways
11.9 SAR1B PCSK9 MTTP FURIN APOC3 APOC2
4
Show member pathways
11.89 APOC3 APOC2 APOB APOA4
5
Show member pathways
11.73 PCSK9 MTTP APOH APOC3 APOC2 APOC1
6
Show member pathways
10.99 MTTP APOB APOA4
7 10.85 APOC3 APOA5
8 10.75 APOB APOA4

GO Terms for Hypobetalipoproteinemia, Familial, 1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.14 PCSK9 LGALS1 FURIN APOH APOC3 APOC2
2 extracellular space GO:0005615 10.13 PCSK9 LGALS1 FURIN APOH APOC3 APOC2
3 endoplasmic reticulum GO:0005783 10.09 SAR1B PCSK9 MTTP MIA2 FURIN APOC1
4 Golgi apparatus GO:0005794 10.08 SAR1B PCSK9 MTTP FURIN COG2 APOA5
5 cell surface GO:0009986 9.97 PCSK9 LGALS1 FURIN APOH APOA4 ANGPTL3
6 collagen-containing extracellular matrix GO:0062023 9.91 LGALS1 APOH APOC3 APOA4 ANGPTL3
7 endoplasmic reticulum lumen GO:0005788 9.85 PCSK9 MTTP LGALS1 APOB APOA5 APOA4
8 early endosome GO:0005769 9.8 PCSK9 APOC3 APOC2 APOB APOA5 APOA4
9 endoplasmic reticulum exit site GO:0070971 9.65 SAR1B MIA2 APOB
10 low-density lipoprotein particle GO:0034362 9.63 APOC2 APOB APOA5
11 high-density lipoprotein particle GO:0034364 9.63 APOH APOC2 APOC1 APOB APOA5 APOA4
12 spherical high-density lipoprotein particle GO:0034366 9.52 APOC3 APOC2
13 intermediate-density lipoprotein particle GO:0034363 9.5 APOC3 APOC2 APOB
14 chylomicron GO:0042627 9.5 APOH APOC3 APOC2 APOC1 APOB APOA5
15 very-low-density lipoprotein particle GO:0034361 9.17 APOH APOC3 APOC2 APOC1 APOB APOA5

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

(show all 49)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 10.16 PCSK9 MTTP APOC3 APOC2 APOC1 APOB
2 cellular protein metabolic process GO:0044267 10.03 PCSK9 LGALS1 FURIN APOB APOA5 APOA4
3 post-translational protein modification GO:0043687 10 PCSK9 LGALS1 APOB APOA5
4 cholesterol metabolic process GO:0008203 9.97 PCSK9 APOC1 APOB APOA4 ANGPTL3
5 lipid catabolic process GO:0016042 9.95 APOC3 APOC2 APOB APOA4
6 lipid transport GO:0006869 9.95 MTTP APOC3 APOC2 APOC1 APOB APOA5
7 retinoid metabolic process GO:0001523 9.92 APOC3 APOC2 APOB APOA4
8 intermembrane lipid transfer GO:0120009 9.84 MTTP APOB APOA4
9 high-density lipoprotein particle remodeling GO:0034375 9.83 APOC3 APOC2 APOC1 APOA4
10 triglyceride homeostasis GO:0070328 9.83 APOC3 APOC2 APOA5 APOA4 ANGPTL3
11 triglyceride catabolic process GO:0019433 9.81 APOC3 APOB APOA5
12 reverse cholesterol transport GO:0043691 9.81 APOC3 APOC2 APOA4
13 positive regulation of lipoprotein lipase activity GO:0051006 9.81 APOH APOC2 APOA5 APOA4
14 lipoprotein transport GO:0042953 9.8 MTTP APOC2 APOB
15 positive regulation of fatty acid biosynthetic process GO:0045723 9.8 APOC2 APOA5 APOA4
16 very-low-density lipoprotein particle assembly GO:0034379 9.8 MTTP APOC3 APOC1 APOB
17 triglyceride metabolic process GO:0006641 9.8 PCSK9 MTTP APOH APOC3 APOC1 APOA5
18 very-low-density lipoprotein particle remodeling GO:0034372 9.78 APOC2 APOA5 APOA4
19 chylomicron remnant clearance GO:0034382 9.78 APOC3 APOC2 APOC1 APOB
20 positive regulation of triglyceride catabolic process GO:0010898 9.77 APOC2 APOA5 APOA4
21 positive regulation of cholesterol esterification GO:0010873 9.77 APOC1 APOA5 APOA4
22 phospholipid efflux GO:0033700 9.77 APOC3 APOC2 APOC1 APOA5 APOA4
23 negative regulation of lipoprotein lipase activity GO:0051005 9.76 APOC3 APOC1 ANGPTL3
24 chylomicron remodeling GO:0034371 9.76 APOC3 APOC2 APOB APOA4
25 negative regulation of receptor-mediated endocytosis GO:0048261 9.75 APOC3 APOC2 APOC1
26 negative regulation of lipid metabolic process GO:0045833 9.72 APOC3 APOC2 APOC1
27 artery morphogenesis GO:0048844 9.71 APOB ANGPTL3
28 negative regulation of very-low-density lipoprotein particle clearance GO:0010916 9.71 APOC3 APOC2 APOC1
29 low-density lipoprotein particle clearance GO:0034383 9.7 PCSK9 APOB
30 negative regulation of lipid catabolic process GO:0050995 9.7 APOC3 APOC1
31 negative regulation of fatty acid biosynthetic process GO:0045717 9.7 APOC3 APOC1
32 positive regulation of lipid biosynthetic process GO:0046889 9.69 APOA5 APOA4
33 phosphatidylcholine metabolic process GO:0046470 9.69 APOA5 APOA4
34 negative regulation of low-density lipoprotein particle clearance GO:0010989 9.69 PCSK9 APOC3
35 high-density lipoprotein particle assembly GO:0034380 9.68 APOA5 APOA4
36 regulation of lipoprotein lipase activity GO:0051004 9.68 FURIN ANGPTL3
37 positive regulation of lipid catabolic process GO:0050996 9.68 APOA5 ANGPTL3
38 very-low-density lipoprotein particle clearance GO:0034447 9.68 APOC1 APOB
39 triglyceride transport GO:0034197 9.67 MTTP APOH
40 regulation of cholesterol transport GO:0032374 9.67 APOC1 APOA4
41 regulation of intestinal cholesterol absorption GO:0030300 9.67 APOA5 APOA4
42 negative regulation of cholesterol transport GO:0032375 9.66 APOC2 APOC1
43 triglyceride-rich lipoprotein particle remodeling GO:0034370 9.65 APOC2 APOA5
44 acylglycerol homeostasis GO:0055090 9.65 APOA5 ANGPTL3
45 chylomicron assembly GO:0034378 9.65 MTTP APOC3 APOC2 APOB APOA4
46 positive regulation of very-low-density lipoprotein particle remodeling GO:0010902 9.64 APOC2 APOA5
47 cholesterol efflux GO:0033344 9.63 APOC3 APOC2 APOC1 APOB APOA5 APOA4
48 cholesterol homeostasis GO:0042632 9.56 PCSK9 MTTP APOC3 APOC2 APOB APOA5
49 lipoprotein metabolic process GO:0042157 9.17 PCSK9 MTTP APOC3 APOC1 APOB APOA5

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.8 MTTP APOH APOC3 APOC2 APOA5 APOA4
2 heparin binding GO:0008201 9.76 APOH APOB APOA5 ANGPTL3
3 cholesterol binding GO:0015485 9.65 APOC3 APOA5 APOA4
4 phospholipid binding GO:0005543 9.65 APOH APOC3 APOB APOA5 APOA4
5 lipid transporter activity GO:0005319 9.61 MTTP APOB APOA4
6 phosphatidylcholine binding GO:0031210 9.58 APOC1 APOA5 APOA4
7 intermembrane cholesterol transfer activity GO:0120020 9.54 APOB APOA4
8 low-density lipoprotein particle receptor binding GO:0050750 9.54 PCSK9 APOB APOA5
9 apolipoprotein binding GO:0034185 9.52 PCSK9 MTTP
10 phospholipase inhibitor activity GO:0004859 9.51 APOC1 ANGPTL3
11 lipase binding GO:0035473 9.49 APOB APOA5
12 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.33 APOC1 APOA5 APOA4
13 lipase inhibitor activity GO:0055102 9.13 APOC3 APOC2 APOC1
14 lipoprotein lipase activator activity GO:0060230 8.8 APOH APOC2 APOA5

Sources for Hypobetalipoproteinemia, Familial, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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