FHBL2
MCID: HYP290
MIFTS: 40

Hypobetalipoproteinemia, Familial, 2 (FHBL2)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases

Aliases & Classifications for Hypobetalipoproteinemia, Familial, 2

MalaCards integrated aliases for Hypobetalipoproteinemia, Familial, 2:

Name: Hypobetalipoproteinemia, Familial, 2 57 75 29 13 6 73
Fhbl2 57 12 75
Familial Hypobetalipoproteinemia 2 12 15
Combined Hypobetalipoproteinemia Familial 75
Hypobetalipoproteinemia, Familial, Type 2 40
Hypolipidemia, Familial, Combined 57
Combined Familial Hypolipidemia 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
heterozygotes have plasma levels of triglycerides and/or hdl cholesterol that are intermediate between homozygotes and unaffected individuals


HPO:

32
hypobetalipoproteinemia, familial, 2:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 605019
Disease Ontology 12 DOID:0111061
MedGen 42 C1857970
MeSH 44 D006995
UMLS 73 C1857970

Summaries for Hypobetalipoproteinemia, Familial, 2

OMIM : 57 Hypobetalipoproteinemia (HBL) is defined as permanently low levels, below the 5th percentile of sex- and age-matched individuals in the population, of apolipoprotein B (apoB), total cholesterol, and low-density lipoprotein (LDL) cholesterol; the lipid profile in FHBL2 includes low HDL cholesterol as well. HBL can result from environmental factors such as a strict vegetarian diet, or can be secondary to certain diseases such as intestinal fat malabsorption, chronic pancreatitis, severe liver disease, malnutrition, or hyperthyroidism. Heritable primary causes of HBL include chylomicron retention disease (CMRD; 246700), abetalipoproteinemia (200100), and familial hypobetalipoproteinemia (FHBL) (summary by Martin-Campos et al., 2012). For a discussion of genetic heterogeneity of familial hypobetalipoproteinemia, see FHBL1 (615558). (605019)

MalaCards based summary : Hypobetalipoproteinemia, Familial, 2, also known as fhbl2, is related to defective apolipoprotein b-100 and sea-blue histiocyte disease. An important gene associated with Hypobetalipoproteinemia, Familial, 2 is ANGPTL3 (Angiopoietin Like 3), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include liver and heart, and related phenotypes are hypotriglyceridemia and decreased ldl cholesterol concentration

Disease Ontology : 12 A hypobetalipoproteinemia that has material basis in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31.

UniProtKB/Swiss-Prot : 75 Hypobetalipoproteinemia, familial, 2: A disorder of lipid metabolism characterized by less than 5th percentile age- and sex-specific levels of low density lipoproteins, and dietary fat malabsorption. Affected individuals present with combined hypolipidemia, consisting of extremely low plasma levels of LDL cholesterol, HDL cholesterol, and triglycerides.

Related Diseases for Hypobetalipoproteinemia, Familial, 2

Diseases in the Hypobetalipoproteinemia, Familial, 1 family:

Hypobetalipoproteinemia, Familial, 2

Diseases related to Hypobetalipoproteinemia, Familial, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 defective apolipoprotein b-100 10.2 APOB PCSK9
2 sea-blue histiocyte disease 10.2 APOB PCSK9
3 homozygous familial hypercholesterolemia 10.1 APOB PCSK9
4 dysbaric osteonecrosis 10.1 APOA1 APOB
5 lipoprotein glomerulopathy 10.1 APOB LPA
6 hereditary amyloidosis 10.1 APOA1 FURIN
7 familial lipoprotein lipase deficiency 10.1 APOC3 LPL
8 fetal macrosomia 10.0 APOA1 APOB
9 chylomicron retention disease 10.0 APOA1 APOB
10 arrhythmogenic right ventricular dysplasia, familial, 4 10.0 APOC3 LPA
11 hepatic lipase deficiency 10.0 APOA1 LPL
12 vitamin e, familial isolated deficiency of 10.0 APOA1 APOB
13 hyperlipidemia, combined, 1 10.0 APOB APOC3 LPL
14 hyperlipoproteinemia, type iv 10.0 APOB APOC3 LPL
15 amyloidosis aa 10.0 APOA1 LPA
16 aortic atherosclerosis 10.0 CETP LPA
17 cholesterol ester storage disease 10.0 APOB COG2
18 gallbladder disease 10.0 APOA1 APOB CETP
19 hyperlipoproteinemia, type v 9.9 APOA1 APOB LPL
20 ischemic heart disease 9.9 APOA1 APOB LPL
21 huntington disease-like 1 9.9 APOB CETP LPA
22 leukodystrophy, hypomyelinating, 3 9.9 APOA1 APOB LPA
23 xanthomatosis 9.9 APOB LPA LPL
24 peripheral vascular disease 9.9 APOA1 APOB LPA
25 bardet-biedl syndrome 2 9.9 APOA1 APOC3 LPL
26 prediabetes syndrome 9.9 APOB COG2
27 coronary stenosis 9.9 APOA1 APOB CETP PCSK9
28 heart disease 9.8 APOA1 APOB APOC3 LPL
29 acquired metabolic disease 9.8 APOA1 APOB COG2
30 abetalipoproteinemia 9.8 APOA1 APOB CETP LPL
31 niemann-pick disease, type b 9.8 APOA1 LPA
32 inherited metabolic disorder 9.7 APOA1 APOB COG2 PCSK9
33 hypobetalipoproteinemia, familial, 1 9.7 ANGPTL3 APOB COG2 FURIN PCSK9
34 hypertension, essential 9.7 APOA1 APOB LPA LPL
35 atherosclerosis susceptibility 9.7 ANGPTL3 APOA1 APOB CETP LPA
36 hypolipoproteinemia 9.6 ANGPTL3 APOA1 APOB LPA LPL
37 hypertriglyceridemia, familial 9.6 APOA1 APOB APOC3 CETP LPL
38 stroke, ischemic 9.6 APOB COG2 LPA
39 carotid artery disease 9.6 APOA1 APOB COG2 LPA
40 arteriosclerosis 9.6 APOA1 APOB COG2 LPA
41 vascular disease 9.5 APOA1 APOB CETP LPA LPL
42 hypoalphalipoproteinemia, primary 9.5 APOA1 APOB APOC3 CETP LPL PLTP
43 hyperalphalipoproteinemia 1 9.5 APOA1 APOB APOC3 CETP LPL PLTP
44 tangier disease 9.4 APOA1 APOB CETP LPA LPL PLTP
45 arteries, anomalies of 9.4 APOA1 APOB CETP COG2 LPA
46 diabetes mellitus 9.4 APOA1 APOB COG2 LPA LPL
47 lecithin:cholesterol acyltransferase deficiency 9.4 APOA1 APOB APOC3 CETP LPA LPL
48 arcus corneae 9.3 APOA1 APOB CETP COG2 LPA PCSK9
49 hyperlipidemia, familial combined 9.3 APOA1 APOB APOC3 COG2 LPA LPL
50 myocardial infarction 9.3 APOA1 APOB APOC3 CETP COG2 LPA

Graphical network of the top 20 diseases related to Hypobetalipoproteinemia, Familial, 2:



Diseases related to Hypobetalipoproteinemia, Familial, 2

Symptoms & Phenotypes for Hypobetalipoproteinemia, Familial, 2

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
low ldl cholesterol
low triglycerides
low to very low hdl cholesterol
low apolipoprotein
marked hypobetalipoproteinemia
more

Clinical features from OMIM:

605019

Human phenotypes related to Hypobetalipoproteinemia, Familial, 2:

32
# Description HPO Frequency HPO Source Accession
1 hypotriglyceridemia 32 HP:0012153
2 decreased ldl cholesterol concentration 32 HP:0003563

GenomeRNAi Phenotypes related to Hypobetalipoproteinemia, Familial, 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.7 ANGPTL4 APOA1 APOB APOC3 CETP DOCK7
2 Increased LDL uptake GR00340-A-1 8.62 APOA1 LPL

MGI Mouse Phenotypes related to Hypobetalipoproteinemia, Familial, 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.65 ANGPTL3 ANGPTL4 APOA1 APOB COG2 DOCK7
2 liver/biliary system MP:0005370 9.1 ANGPTL3 APOA1 APOB FURIN LPL PCSK9

Drugs & Therapeutics for Hypobetalipoproteinemia, Familial, 2

Search Clinical Trials , NIH Clinical Center for Hypobetalipoproteinemia, Familial, 2

Genetic Tests for Hypobetalipoproteinemia, Familial, 2

Genetic tests related to Hypobetalipoproteinemia, Familial, 2:

# Genetic test Affiliating Genes
1 Hypobetalipoproteinemia, Familial, 2 29 ANGPTL3

Anatomical Context for Hypobetalipoproteinemia, Familial, 2

MalaCards organs/tissues related to Hypobetalipoproteinemia, Familial, 2:

41
Liver, Heart

Publications for Hypobetalipoproteinemia, Familial, 2

Variations for Hypobetalipoproteinemia, Familial, 2

ClinVar genetic disease variations for Hypobetalipoproteinemia, Familial, 2:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 ANGPTL3 NM_014495.3(ANGPTL3): c.50_51delCCinsGA (p.Ser17Ter) indel Pathogenic rs267606655 GRCh37 Chromosome 1, 63063287: 63063288
2 ANGPTL3 NM_014495.3(ANGPTL3): c.50_51delCCinsGA (p.Ser17Ter) indel Pathogenic rs267606655 GRCh38 Chromosome 1, 62597616: 62597617
3 ANGPTL3 NM_014495.3(ANGPTL3): c.385G> T (p.Glu129Ter) single nucleotide variant Pathogenic rs200785483 GRCh37 Chromosome 1, 63063622: 63063622
4 ANGPTL3 NM_014495.3(ANGPTL3): c.385G> T (p.Glu129Ter) single nucleotide variant Pathogenic rs200785483 GRCh38 Chromosome 1, 62597951: 62597951
5 ANGPTL3 NM_014495.3(ANGPTL3): c.1198+1G> T single nucleotide variant Pathogenic rs398122985 GRCh37 Chromosome 1, 63069907: 63069907
6 ANGPTL3 NM_014495.3(ANGPTL3): c.1198+1G> T single nucleotide variant Pathogenic rs398122985 GRCh38 Chromosome 1, 62604236: 62604236
7 ANGPTL3 NM_014495.3(ANGPTL3): c.55delA (p.Ile19Leufs) deletion Pathogenic rs398122986 GRCh37 Chromosome 1, 63063292: 63063292
8 ANGPTL3 NM_014495.3(ANGPTL3): c.55delA (p.Ile19Leufs) deletion Pathogenic rs398122986 GRCh38 Chromosome 1, 62597621: 62597621
9 ANGPTL3 NM_014495.3(ANGPTL3): c.439_442delAACT (p.Asn147Terfs) deletion Pathogenic rs398122987 GRCh37 Chromosome 1, 63063676: 63063679
10 ANGPTL3 NM_014495.3(ANGPTL3): c.439_442delAACT (p.Asn147Terfs) deletion Pathogenic rs398122987 GRCh38 Chromosome 1, 62598005: 62598008
11 ANGPTL3 NM_014495.3(ANGPTL3): c.363_367delCTCAA (p.Asn121Lysfs) deletion Pathogenic rs398122988 GRCh37 Chromosome 1, 63063600: 63063604
12 ANGPTL3 NM_014495.3(ANGPTL3): c.363_367delCTCAA (p.Asn121Lysfs) deletion Pathogenic rs398122988 GRCh38 Chromosome 1, 62597929: 62597933
13 ANGPTL3 NM_014495.3(ANGPTL3): c.883T> C (p.Phe295Leu) single nucleotide variant Pathogenic rs398122989 GRCh37 Chromosome 1, 63068003: 63068003
14 ANGPTL3 NM_014495.3(ANGPTL3): c.883T> C (p.Phe295Leu) single nucleotide variant Pathogenic rs398122989 GRCh38 Chromosome 1, 62602332: 62602332

Expression for Hypobetalipoproteinemia, Familial, 2

Search GEO for disease gene expression data for Hypobetalipoproteinemia, Familial, 2.

Pathways for Hypobetalipoproteinemia, Familial, 2

Pathways related to Hypobetalipoproteinemia, Familial, 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.67 ANGPTL3 ANGPTL4 APOA1 APOB APOC3 CETP
2
Show member pathways
12.31 APOA1 APOB APOC3 LPL
3
Show member pathways
12.27 ANGPTL3 ANGPTL4 APOA1 APOB APOC3 CETP
4
Show member pathways
12 APOA1 APOB APOC3 LPL
5
Show member pathways
11.44 ANGPTL3 ANGPTL4 APOA1 APOB APOC3 CETP
6 11.42 ANGPTL4 APOA1 APOC3 LPL PLTP
7 10.91 APOA1 APOC3 PLTP
8 10.81 APOA1 APOB

GO Terms for Hypobetalipoproteinemia, Familial, 2

Cellular components related to Hypobetalipoproteinemia, Familial, 2 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.91 ANGPTL3 APOA1 FURIN LIPG LPL PCSK9
2 early endosome GO:0005769 9.85 ANGPTL3 APOA1 APOB APOC3 LIPG PCSK9
3 extracellular space GO:0005615 9.7 ANGPTL3 ANGPTL4 APOA1 APOB APOC3 CETP
4 high-density lipoprotein particle GO:0034364 9.58 APOA1 CETP PLTP
5 very-low-density lipoprotein particle GO:0034361 9.56 APOA1 APOB APOC3 LPL
6 intermediate-density lipoprotein particle GO:0034363 9.5 APOA1 APOB APOC3
7 endocytic vesicle lumen GO:0071682 9.49 APOA1 APOB
8 low-density lipoprotein particle GO:0034362 9.48 APOA1 APOB
9 spherical high-density lipoprotein particle GO:0034366 9.46 APOA1 APOC3
10 chylomicron GO:0042627 9.46 APOA1 APOB APOC3 LPL
11 extracellular region GO:0005576 9.4 ANGPTL3 ANGPTL4 APOA1 APOB APOC3 CETP

Biological processes related to Hypobetalipoproteinemia, Familial, 2 according to GeneCards Suite gene sharing:

(show all 39)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.93 APOA1 APOB FURIN PCSK9
2 lipid catabolic process GO:0016042 9.91 APOB APOC3 LIPG LPL
3 steroid metabolic process GO:0008202 9.9 APOA1 APOB CETP PCSK9
4 phospholipid metabolic process GO:0006644 9.88 ANGPTL3 APOA1 LPL PCSK9
5 cholesterol metabolic process GO:0008203 9.88 ANGPTL3 APOA1 APOB CETP PCSK9
6 lipid transport GO:0006869 9.88 APOA1 APOB APOC3 CETP LPA PLTP
7 lipid metabolic process GO:0006629 9.85 ANGPTL3 APOA1 APOB APOC3 CETP LIPG
8 triglyceride metabolic process GO:0006641 9.81 APOC3 CETP LPL PCSK9
9 retinoid metabolic process GO:0001523 9.8 APOA1 APOB APOC3
10 triglyceride catabolic process GO:0019433 9.8 APOA1 APOB APOC3 LPL
11 phospholipid transport GO:0015914 9.79 APOA1 CETP PLTP
12 cholesterol transport GO:0030301 9.77 APOA1 APOB CETP
13 cholesterol efflux GO:0033344 9.76 APOA1 APOB APOC3
14 lipoprotein metabolic process GO:0042157 9.76 APOA1 APOB APOC3 PCSK9
15 low-density lipoprotein particle remodeling GO:0034374 9.74 APOB CETP LPA
16 chylomicron assembly GO:0034378 9.73 APOA1 APOB APOC3
17 reverse cholesterol transport GO:0043691 9.73 APOA1 APOC3 CETP LIPG
18 regulation of lipoprotein lipase activity GO:0051004 9.72 ANGPTL3 FURIN LPL
19 very-low-density lipoprotein particle remodeling GO:0034372 9.71 APOA1 CETP LPL
20 negative regulation of lipoprotein lipase activity GO:0051005 9.7 ANGPTL3 ANGPTL4 APOC3
21 lipid homeostasis GO:0055088 9.68 ANGPTL3 CETP
22 low-density lipoprotein particle clearance GO:0034383 9.68 APOB PCSK9
23 artery morphogenesis GO:0048844 9.67 ANGPTL3 APOB
24 lipid storage GO:0019915 9.67 ANGPTL3 APOA1
25 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.67 APOB LPL
26 phospholipid homeostasis GO:0055091 9.67 ANGPTL3 APOA1 CETP LIPG
27 negative regulation of low-density lipoprotein particle clearance GO:0010989 9.66 APOC3 PCSK9
28 phospholipid catabolic process GO:0009395 9.66 ANGPTL3 LIPG
29 phospholipid efflux GO:0033700 9.65 APOA1 APOC3
30 very-low-density lipoprotein particle assembly GO:0034379 9.65 APOB APOC3
31 chylomicron remnant clearance GO:0034382 9.65 APOB APOC3
32 high-density lipoprotein particle remodeling GO:0034375 9.65 APOA1 APOC3 CETP LIPG PLTP
33 positive regulation of cholesterol storage GO:0010886 9.64 APOB LPL
34 regulation of Cdc42 protein signal transduction GO:0032489 9.64 APOA1 APOC3
35 lipoprotein biosynthetic process GO:0042158 9.63 APOA1 APOB
36 chylomicron remodeling GO:0034371 9.62 APOA1 APOB APOC3 LPL
37 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.61 APOA1 APOC3
38 triglyceride homeostasis GO:0070328 9.43 ANGPTL3 ANGPTL4 APOA1 APOC3 CETP LPL
39 cholesterol homeostasis GO:0042632 9.23 ANGPTL3 APOA1 APOB APOC3 CETP LIPG

Molecular functions related to Hypobetalipoproteinemia, Familial, 2 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.77 APOA1 APOB APOC3 CETP PLTP
2 serine-type peptidase activity GO:0008236 9.74 FURIN LPA PCSK9
3 phospholipid binding GO:0005543 9.7 APOA1 APOB APOC3
4 cholesterol binding GO:0015485 9.65 APOA1 APOC3 CETP
5 phosphatidylcholine binding GO:0031210 9.58 CETP PLTP
6 triglyceride lipase activity GO:0004806 9.56 LIPG LPL
7 low-density lipoprotein particle receptor binding GO:0050750 9.55 APOB PCSK9
8 phospholipase activity GO:0004620 9.54 LIPG LPL
9 lipoprotein lipase activity GO:0004465 9.51 LIPG LPL
10 phospholipid transporter activity GO:0005548 9.5 APOA1 CETP PLTP
11 lipase inhibitor activity GO:0055102 9.49 APOA1 APOC3
12 apolipoprotein receptor binding GO:0034190 9.46 APOA1 PCSK9
13 high-density lipoprotein particle receptor binding GO:0070653 9.43 APOA1 APOC3
14 cholesterol transporter activity GO:0017127 9.43 APOA1 APOB CETP
15 triglyceride binding GO:0017129 9.4 CETP LPL
16 heparin binding GO:0008201 9.35 ANGPTL3 APOB LIPG LPA LPL
17 apolipoprotein binding GO:0034185 9.33 LPA LPL PCSK9
18 lipid transporter activity GO:0005319 8.92 APOA1 APOB CETP PLTP

Sources for Hypobetalipoproteinemia, Familial, 2

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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