FHBL1
MCID: HYP818
MIFTS: 50

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 57 75 29 6
Hypobetalipoproteinemia 57 12 29 55 6 15
Hypobetalipoproteinemia, Normotriglyceridemic 57 29 13 6
Fhbl1 57 12 75
Acanthocytosis with Hypobetalipoproteinemia 57 75
Familial Hypobetalipoproteinemia 1 12 15
Familial Hypobetalipoproteinemia 75 73
Hypobetalipoproteinemias 44 73
Fhbl 57 75
Normotriglyceridemic Hypobetalipoproteinemia 75
Hypobetalipoproteinemia, Familial, Type 1 40
Hypobetalipoproteinemia, Familial; Fhbl 57
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

Summaries for Hypobetalipoproteinemia, Familial, 1

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)

MalaCards based summary : Hypobetalipoproteinemia, Familial, 1, also known as hypobetalipoproteinemia, is related to chylomicron retention disease and abetalipoproteinemia, and has symptoms including ataxia An important gene associated with Hypobetalipoproteinemia, Familial, 1 is APOB (Apolipoprotein B), and among its related pathways/superpathways are Metabolism and Lipoprotein metabolism. Affiliated tissues include liver, and related phenotypes are ataxia and reduced tendon reflexes

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

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.

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 56)
# Related Disease Score Top Affiliating Genes
1 chylomicron retention disease 32.4 APOB MTTP SAR1B
2 abetalipoproteinemia 31.8 APOB MTTP SAR1B
3 hypolipoproteinemia 31.4 ANGPTL3 APOB MTTP SAR1B
4 hypobetalipoproteinemia, familial, 2 31.0 ANGPTL3 APOB COG2 FURIN PCSK9
5 nonalcoholic fatty liver disease 29.7 APOB MTTP
6 nguyen syndrome 11.5
7 fatty liver disease 10.5
8 protein-losing enteropathy 10.3
9 necrobiosis lipoidica 10.3
10 sideroblastic anemia 10.3
11 diabetes mellitus 10.1
12 liver disease 10.1
13 defective apolipoprotein b-100 10.1 APOB PCSK9
14 sea-blue histiocyte disease 10.1 APOB PCSK9
15 peripheral artery disease 10.1 APOB PCSK9
16 coronary stenosis 10.1 APOB PCSK9
17 hyperlipidemia, familial combined 10.1 APOB COG2
18 cholesterol ester storage disease 10.1 APOB COG2
19 prediabetes syndrome 10.1 APOB COG2
20 hyperlipoproteinemia, type iii 10.1 APOB COG2
21 sitosterolemia 10.1 APOB MTTP
22 carotid artery disease 10.1 APOB COG2
23 retinitis pigmentosa 10.1
24 leber congenital amaurosis 4 10.1
25 hepatitis c virus 10.1
26 fatty liver disease, nonalcoholic 1 10.1
27 hepatitis 10.1
28 hepatitis c 10.1
29 retinitis 10.1
30 familial hyperlipidemia 10.1 APOB COG2
31 overnutrition 10.0 APOB COG2
32 atherosclerosis susceptibility 10.0 ANGPTL3 APOB
33 arteries, anomalies of 10.0 APOB COG2
34 glucose metabolism disease 10.0 APOB COG2
35 acquired metabolic disease 10.0 APOB COG2
36 coronary artery anomaly 10.0 APOB COG2
37 homozygous familial hypercholesterolemia 9.9 APOB MTTP PCSK9
38 arcus corneae 9.9 APOB COG2 PCSK9
39 inherited metabolic disorder 9.9 APOB COG2 PCSK9
40 hereditary spastic paraplegia 9.9
41 paraplegia 9.9
42 hepatocellular carcinoma 9.9
43 lecithin:cholesterol acyltransferase deficiency 9.9
44 spinal muscular atrophy 9.9
45 rickets 9.9
46 hypothyroidism 9.9
47 muscular atrophy 9.9
48 retinal degeneration 9.9
49 afibrinogenemia 9.9
50 nonalcoholic steatohepatitis 9.9

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
Neurologic Central Nervous System:
ataxia

Laboratory Abnormalities:
hypobetalipoproteinemia
decreased serum cholesterol

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

Human phenotypes related to Hypobetalipoproteinemia, Familial, 1:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 reduced tendon reflexes 32 HP:0001315
3 rod-cone dystrophy 32 occasional (7.5%) HP:0000510
4 acanthocytosis 32 HP:0001927
5 retinal degeneration 32 HP:0000546
6 decreased ldl cholesterol concentration 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 8.62 APOB PCSK9

MGI Mouse Phenotypes related to Hypobetalipoproteinemia, Familial, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.43 ANGPTL3 APOB COG2 MTTP PCSK9 SAR1B
2 liver/biliary system MP:0005370 9.02 ANGPTL3 APOB FURIN MTTP PCSK9

Drugs & Therapeutics for Hypobetalipoproteinemia, Familial, 1

Search Clinical Trials , 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 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 101)
# Title Authors Year
1
Complex genetic architecture in severe hypobetalipoproteinemia. ( 29540175 )
2018
2
Prevalence of hypobetalipoproteinemia and related psychiatric characteristics in a psychiatric population: results from the retrospective HYPOPSY Study. ( 30400945 )
2018
3
Clinical and biochemical characteristics of individuals with low cholesterol syndromes: AA comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia. ( 28733173 )
2017
4
Lipoprotein metabolism in an apoB-80 familial hypobetalipoproteinemia heterozygote. ( 26916057 )
2016
5
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
6
Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia. ( 27179706 )
2016
7
Characterization of a mutant form of human apolipoprotein B (Thr26_Tyr27del) associated with familial hypobetalipoproteinemia. ( 26825690 )
2016
8
Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B. ( 26612772 )
2016
9
Homozygous familial hypobetalipoproteinemia: two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature. ( 25618028 )
2015
10
An Infant with Chronic Diarrhoea and Failure to Thrive: Familial Hypobetalipoproteinemia. ( 26816882 )
2015
11
SPG11 mutation in a Turkish familial hypobetalipoproteinemia family with hereditary spastic paraplegia. ( 25769290 )
2015
12
Clinical and genetic analysis of a family diagnosed with familial hypobetalipoproteinemia in which the proband was diagnosed with diabetes mellitus. ( 25733326 )
2015
13
Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia. ( 26086616 )
2015
14
Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia. ( 25763510 )
2015
15
The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations. ( 26073401 )
2015
16
Lipoprotein Metabolism in APOB L343V Familial Hypobetalipoproteinemia. ( 26323024 )
2015
17
Familial hypobetalipoproteinemia: analysis of three Spanish cases with two new mutations in the APOB gene. ( 24001780 )
2013
18
Familial hypobetalipoproteinemia-induced nonalcoholic steatohepatitis. ( 22855658 )
2012
19
Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation. ( 22155345 )
2012
20
Familial hypobetalipoproteinemia in a hospital survey: genetics, metabolism and non-alcoholic fatty liver disease. ( 21502677 )
2011
21
Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B. ( 20032471 )
2010
22
New mutations in APOB100 involved in familial hypobetalipoproteinemia. ( 21122650 )
2010
23
Dissociation between intrahepatic triglyceride content and insulin resistance in familial hypobetalipoproteinemia. ( 20303351 )
2010
24
Recurrent familial hypobetalipoproteinemia-induced nonalcoholic fatty liver disease after living donor liver transplantation. ( 19562718 )
2009
25
Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia. ( 19084451 )
2009
26
Familial hypobetalipoproteinemia: early neurological, hematological, and ocular manifestations in two affected twins responding to vitamin supplementation. ( 19773654 )
2009
27
[Familial hypobetalipoproteinemia: clinical characterization of a new mutation in the APOB gene]. ( 19442995 )
2009
28
Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia. ( 19056372 )
2009
29
PCSK9 dominant negative mutant results in increased LDL catabolic rate and familial hypobetalipoproteinemia. ( 19762784 )
2009
30
Familial hypobetalipoproteinemia due to apolipoprotein B R463W mutation causes intestinal fat accumulation and low postprandial lipemia. ( 19344897 )
2009
31
Familial hypobetalipoproteinemia due to a novel early stop mutation. ( 21291764 )
2008
32
Familial hypobetalipoproteinemia in a Turkish family with hereditary spastic paraplegia. ( 18261467 )
2008
33
Familial defective apolipoprotein B and familial hypobetalipoproteinemia in one family: two neutralizing mutations. ( 18458293 )
2008
34
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
35
Novel mutation (c.G1124A) in exon 9 of the APOB gene causes aberrant splicing and familial hypobetalipoproteinemia. ( 17517592 )
2007
36
[Familial hypobetalipoproteinemia secondary to a mutation in the apolipoprotein B gene]. ( 17517208 )
2007
37
Postprandial lipoprotein metabolism in familial hypobetalipoproteinemia. ( 17213276 )
2007
38
Molecular diagnosis of hypobetalipoproteinemia: an ENID review. ( 17570373 )
2007
39
Assessment of tocopherol metabolism and oxidative stress in familial hypobetalipoproteinemia. ( 16728468 )
2006
40
Familial hypobetalipoproteinemia: genetics and metabolism. ( 15818469 )
2005
41
Pediatric gallstone disease in familial hypobetalipoproteinemia. ( 15894400 )
2005
42
Liver dysfunction and steatosis in familial hypobetalipoproteinemia. ( 15514099 )
2005
43
Absence of fatty liver in familial hypobetalipoproteinemia linked to chromosome 3p21. ( 15877300 )
2005
44
An MCA/MR syndrome with hypocholesterolemia due to familial hypobetalipoproteinemia: report of a second patient with Nguyen syndrome. ( 16088930 )
2005
45
Hepatic and cardiovascular consequences of familial hypobetalipoproteinemia. ( 16002743 )
2005
46
[Hepatic steatosis associated with heterozygotic familial hypobetalipoproteinemia]. ( 15056412 )
2004
47
Fatty liver in familial hypobetalipoproteinemia: roles of the APOB defects, intra-abdominal adipose tissue, and insulin sensitivity. ( 14967820 )
2004
48
A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia. ( 12551903 )
2003
49
Familial hypobetalipoproteinemia: a review. ( 12639976 )
2003
50
Fatty liver in familial hypobetalipoproteinemia: triglyceride assembly into VLDL particles is affected by the extent of hepatic steatosis. ( 12562873 )
2003

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 595)
# Gene Variation Type Significance SNP ID Assembly Location
1 APOB NM_000384.2(APOB): c.10580G> A (p.Arg3527Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs5742904 GRCh37 Chromosome 2, 21229160: 21229160
2 APOB NM_000384.2(APOB): c.10580G> A (p.Arg3527Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs5742904 GRCh38 Chromosome 2, 21006288: 21006288
3 APOB NM_000384.2(APOB): c.6835C> T (p.Gln2279Ter) single nucleotide variant Pathogenic rs121918388 GRCh37 Chromosome 2, 21232905: 21232905
4 APOB NM_000384.2(APOB): c.6835C> T (p.Gln2279Ter) single nucleotide variant Pathogenic rs121918388 GRCh38 Chromosome 2, 21010033: 21010033
5 APOB NM_000384.2(APOB): c.10672C> T (p.Arg3558Cys) single nucleotide variant Uncertain significance rs12713559 GRCh37 Chromosome 2, 21229068: 21229068
6 APOB NM_000384.2(APOB): c.10672C> T (p.Arg3558Cys) single nucleotide variant Uncertain significance rs12713559 GRCh38 Chromosome 2, 21006196: 21006196
7 APOB APOB, 4-BP DEL, NT36491 deletion Pathogenic
8 APOB NM_000384.2(APOB): c.3600T> A (p.Tyr1200Ter) single nucleotide variant Pathogenic rs121918391 GRCh37 Chromosome 2, 21238041: 21238041
9 APOB NM_000384.2(APOB): c.3600T> A (p.Tyr1200Ter) single nucleotide variant Pathogenic rs121918391 GRCh38 Chromosome 2, 21015169: 21015169
10 APOB NM_000384.2(APOB): c.10579C> T (p.Arg3527Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs144467873 GRCh37 Chromosome 2, 21229161: 21229161
11 APOB NM_000384.2(APOB): c.10579C> T (p.Arg3527Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs144467873 GRCh38 Chromosome 2, 21006289: 21006289
12 APOB NM_000384.2(APOB): c.9175C> T (p.Arg3059Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs146377316 GRCh37 Chromosome 2, 21230565: 21230565
13 APOB NM_000384.2(APOB): c.9175C> T (p.Arg3059Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs146377316 GRCh38 Chromosome 2, 21007693: 21007693
14 APOB NM_000384.2(APOB): c.9175C> T (p.Arg3059Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs146377316 NCBI36 Chromosome 2, 21084070: 21084070
15 APOB NM_000384.2(APOB): c.12252T> C (p.Tyr4084=) single nucleotide variant Conflicting interpretations of pathogenicity rs138157751 GRCh37 Chromosome 2, 21226042: 21226042
16 APOB NM_000384.2(APOB): c.12252T> C (p.Tyr4084=) single nucleotide variant Conflicting interpretations of pathogenicity rs138157751 GRCh38 Chromosome 2, 21003170: 21003170
17 APOB NM_000384.2(APOB): c.12252T> C (p.Tyr4084=) single nucleotide variant Conflicting interpretations of pathogenicity rs138157751 NCBI36 Chromosome 2, 21079547: 21079547
18 APOB NM_000384.2(APOB): c.13441G> A (p.Ala4481Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs1801695 GRCh37 Chromosome 2, 21224853: 21224853
19 APOB NM_000384.2(APOB): c.13441G> A (p.Ala4481Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs1801695 GRCh38 Chromosome 2, 21001981: 21001981
20 APOB NM_000384.2(APOB): c.2188G> A (p.Val730Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs12691202 GRCh37 Chromosome 2, 21249716: 21249716
21 APOB NM_000384.2(APOB): c.2188G> A (p.Val730Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs12691202 GRCh38 Chromosome 2, 21026844: 21026844
22 APOB NM_000384.2(APOB): c.5768A> G (p.His1923Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs533617 GRCh37 Chromosome 2, 21233972: 21233972
23 APOB NM_000384.2(APOB): c.5768A> G (p.His1923Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs533617 GRCh38 Chromosome 2, 21011100: 21011100
24 APOB NM_000384.2(APOB): c.6936C> T (p.Asp2312=) single nucleotide variant Benign/Likely benign rs1041968 GRCh37 Chromosome 2, 21232804: 21232804
25 APOB NM_000384.2(APOB): c.6936C> T (p.Asp2312=) single nucleotide variant Benign/Likely benign rs1041968 GRCh38 Chromosome 2, 21009932: 21009932
26 APOB NM_000384.2(APOB): c.10294C> G (p.Gln3432Glu) single nucleotide variant Benign/Likely benign rs1042023 GRCh37 Chromosome 2, 21229446: 21229446
27 APOB NM_000384.2(APOB): c.10294C> G (p.Gln3432Glu) single nucleotide variant Benign/Likely benign rs1042023 GRCh38 Chromosome 2, 21006574: 21006574
28 APOB NM_000384.2(APOB): c.6639_6641delTGA (p.Asp2213del) deletion Conflicting interpretations of pathogenicity rs541497967 GRCh37 Chromosome 2, 21233099: 21233101
29 APOB NM_000384.2(APOB): c.6639_6641delTGA (p.Asp2213del) deletion Conflicting interpretations of pathogenicity rs541497967 GRCh38 Chromosome 2, 21010227: 21010229
30 APOB NM_000384.2(APOB): c.7696G> A (p.Glu2566Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs1801696 GRCh38 Chromosome 2, 21009172: 21009172
31 APOB NM_000384.2(APOB): c.7696G> A (p.Glu2566Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs1801696 GRCh37 Chromosome 2, 21232044: 21232044
32 APOB NM_000384.2(APOB): c.5066G> A (p.Arg1689His) single nucleotide variant Conflicting interpretations of pathogenicity rs151009667 GRCh38 Chromosome 2, 21011802: 21011802
33 APOB NM_000384.2(APOB): c.5066G> A (p.Arg1689His) single nucleotide variant Conflicting interpretations of pathogenicity rs151009667 GRCh37 Chromosome 2, 21234674: 21234674
34 APOB NM_000384.2(APOB): c.2585T> C (p.Val862Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs145142090 GRCh38 Chromosome 2, 21023544: 21023544
35 APOB NM_000384.2(APOB): c.2585T> C (p.Val862Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs145142090 GRCh37 Chromosome 2, 21246416: 21246416
36 APOB NM_000384.2(APOB): c.1661C> T (p.Pro554Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs12714214 GRCh37 Chromosome 2, 21251367: 21251367
37 APOB NM_000384.2(APOB): c.1661C> T (p.Pro554Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs12714214 GRCh38 Chromosome 2, 21028495: 21028495
38 APOB NM_000384.2(APOB): c.1298C> T (p.Ala433Val) single nucleotide variant Likely benign rs13306190 GRCh37 Chromosome 2, 21255280: 21255280
39 APOB NM_000384.2(APOB): c.1298C> T (p.Ala433Val) single nucleotide variant Likely benign rs13306190 GRCh38 Chromosome 2, 21032408: 21032408
40 APOB NM_000384.2(APOB): c.9835A> G (p.Ser3279Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs12720854 GRCh38 Chromosome 2, 21007033: 21007033
41 APOB NM_000384.2(APOB): c.9835A> G (p.Ser3279Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs12720854 GRCh37 Chromosome 2, 21229905: 21229905
42 APOB NM_000384.2(APOB): c.8462C> T (p.Pro2821Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72653095 GRCh37 Chromosome 2, 21231278: 21231278
43 APOB NM_000384.2(APOB): c.8462C> T (p.Pro2821Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72653095 GRCh38 Chromosome 2, 21008406: 21008406
44 APOB NM_000384.2(APOB): c.8353A> C (p.Asn2785His) single nucleotide variant Conflicting interpretations of pathogenicity rs2163204 GRCh37 Chromosome 2, 21231387: 21231387
45 APOB NM_000384.2(APOB): c.8353A> C (p.Asn2785His) single nucleotide variant Conflicting interpretations of pathogenicity rs2163204 GRCh38 Chromosome 2, 21008515: 21008515
46 APOB NM_000384.2(APOB): c.7285T> A (p.Ser2429Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs72653092 GRCh37 Chromosome 2, 21232455: 21232455
47 APOB NM_000384.2(APOB): c.7285T> A (p.Ser2429Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs72653092 GRCh38 Chromosome 2, 21009583: 21009583
48 APOB NM_000384.2(APOB): c.5741A> G (p.Asn1914Ser) single nucleotide variant Benign/Likely benign rs1801699 GRCh37 Chromosome 2, 21233999: 21233999
49 APOB NM_000384.2(APOB): c.5741A> G (p.Asn1914Ser) single nucleotide variant Benign/Likely benign rs1801699 GRCh38 Chromosome 2, 21011127: 21011127
50 APOB NM_000384.2(APOB): c.4178C> T (p.Ala1393Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143282164 GRCh37 Chromosome 2, 21236070: 21236070

Expression for Hypobetalipoproteinemia, Familial, 1

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

Pathways for Hypobetalipoproteinemia, Familial, 1

GO Terms for Hypobetalipoproteinemia, Familial, 1

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.5 APOB MTTP PCSK9
2 early endosome GO:0005769 9.43 ANGPTL3 APOB PCSK9
3 rough endoplasmic reticulum GO:0005791 9.37 MTTP PCSK9
4 endoplasmic reticulum GO:0005783 9.35 APOB FURIN MTTP PCSK9 SAR1B
5 endoplasmic reticulum exit site GO:0070971 9.16 APOB SAR1B
6 Golgi apparatus GO:0005794 9.1 ANGPTL3 COG2 FURIN MTTP PCSK9 SAR1B

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.71 ANGPTL3 APOB MTTP PCSK9
2 cellular protein metabolic process GO:0044267 9.67 APOB FURIN PCSK9
3 phospholipid metabolic process GO:0006644 9.54 ANGPTL3 PCSK9
4 protein processing GO:0016485 9.52 FURIN PCSK9
5 triglyceride metabolic process GO:0006641 9.51 MTTP PCSK9
6 lipoprotein transport GO:0042953 9.48 APOB MTTP
7 low-density lipoprotein particle clearance GO:0034383 9.46 APOB PCSK9
8 artery morphogenesis GO:0048844 9.43 ANGPTL3 APOB
9 very-low-density lipoprotein particle assembly GO:0034379 9.37 APOB MTTP
10 cholesterol metabolic process GO:0008203 9.33 ANGPTL3 APOB PCSK9
11 chylomicron assembly GO:0034378 9.32 APOB MTTP
12 regulation of lipoprotein lipase activity GO:0051004 9.26 ANGPTL3 FURIN
13 lipoprotein metabolic process GO:0042157 9.13 APOB MTTP PCSK9
14 cholesterol homeostasis GO:0042632 8.92 ANGPTL3 APOB MTTP PCSK9

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

# Name GO ID Score Top Affiliating Genes
1 lipid transporter activity GO:0005319 9.16 APOB MTTP
2 low-density lipoprotein particle receptor binding GO:0050750 8.96 APOB PCSK9
3 apolipoprotein binding GO:0034185 8.62 MTTP PCSK9

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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