MCID: HYP290
MIFTS: 23

Hypobetalipoproteinemia, Familial, 2

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Hypobetalipoproteinemia, Familial, 2

MalaCards integrated aliases for Hypobetalipoproteinemia, Familial, 2:

Name: Hypobetalipoproteinemia, Familial, 2 54 71 29 13 69
Fhbl2 12 71
Combined Hypobetalipoproteinemia Familial 71
Hypobetalipoproteinemia, Familial 2 24
Familial Hypobetalipoproteinemia 2 12
Combined Familial Hypolipidemia 12

Characteristics:

OMIM:

54
Miscellaneous:
heterozygotes have plasma levels of triglycerides and/or hdl cholesterol that are intermediate between homozygotes and unaffected individuals

Inheritance:
autosomal recessive


HPO:

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


Classifications:



External Ids:

OMIM 54 605019
Disease Ontology 12 DOID:0111061
MedGen 40 C1857970
MeSH 42 D006995

Summaries for Hypobetalipoproteinemia, Familial, 2

OMIM : 54
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, is also known as fhbl2, and has symptoms including hypobetalipoproteinemia and hypotriglyceridemia. An important gene associated with Hypobetalipoproteinemia, Familial, 2 is ANGPTL3 (Angiopoietin Like 3). The drugs Tocopherol and Vitamin E have been mentioned in the context of this disorder. Affiliated tissues include liver.

UniProtKB/Swiss-Prot : 71 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.

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

Related Diseases for Hypobetalipoproteinemia, Familial, 2

Diseases in the Hypobetalipoproteinemia family:

Hypobetalipoproteinemia, Familial, 2

Symptoms & Phenotypes for Hypobetalipoproteinemia, Familial, 2

Symptoms via clinical synopsis from OMIM:

54

Laboratory- Abnormalities:
marked hypoalphalipoproteinemia (in some patients)
near-complete absence of vldl peak on density gradient ultracentrifugation (in some patients)
marked hypobetalipoproteinemia
low apolipoprotein
low triglycerides
more

Clinical features from OMIM:

605019

Human phenotypes related to Hypobetalipoproteinemia, Familial, 2:

32
id Description HPO Frequency HPO Source Accession
1 hypobetalipoproteinemia 32 HP:0003563
2 hypotriglyceridemia 32 HP:0012153

Drugs & Therapeutics for Hypobetalipoproteinemia, Familial, 2

Drugs for Hypobetalipoproteinemia, Familial, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

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

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Study of the Absorption of Vitamin E Water-soluble Form (Pegylated) in the Familial Hypocholesterolemia With Chylomicron Retention Completed NCT01457690 Phase 3 Tocofersolan;tocopherol alpha;Tocofersolan and tocopherol alpha
2 Measure Liver Fat Content After ISIS 301012 (Mipomersen) Administration Completed NCT00362180 Phase 2 mipomersen;Placebo

Search NIH Clinical Center for Hypobetalipoproteinemia, Familial, 2

Genetic Tests for Hypobetalipoproteinemia, Familial, 2

Genetic tests related to Hypobetalipoproteinemia, Familial, 2:

id Genetic test Affiliating Genes
1 Hypobetalipoproteinemia, Familial, 2 29
2 Hypobetalipoproteinemia, Familial 2 24 ANGPTL3

Anatomical Context for Hypobetalipoproteinemia, Familial, 2

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

39
Liver

Publications for Hypobetalipoproteinemia, Familial, 2

Variations for Hypobetalipoproteinemia, Familial, 2

ClinVar genetic disease variations for Hypobetalipoproteinemia, Familial, 2:

6
id 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.385G> T (p.Glu129Ter) single nucleotide variant Pathogenic rs200785483 GRCh37 Chromosome 1, 63063622: 63063622
3 ANGPTL3 NM_014495.3(ANGPTL3): c.1198+1G> T single nucleotide variant Pathogenic rs398122985 GRCh37 Chromosome 1, 63069907: 63069907
4 ANGPTL3 NM_014495.3(ANGPTL3): c.55delA (p.Ile19Leufs) deletion Pathogenic rs398122986 GRCh37 Chromosome 1, 63063292: 63063292
5 ANGPTL3 NM_014495.3(ANGPTL3): c.439_442delAACT (p.Asn147Terfs) deletion Pathogenic rs398122987 GRCh37 Chromosome 1, 63063676: 63063679
6 ANGPTL3 NM_014495.3(ANGPTL3): c.363_367delCTCAA (p.Asn121Lysfs) deletion Pathogenic rs398122988 GRCh37 Chromosome 1, 63063600: 63063604
7 ANGPTL3 NM_014495.3(ANGPTL3): c.883T> C (p.Phe295Leu) single nucleotide variant Pathogenic rs398122989 GRCh37 Chromosome 1, 63068003: 63068003

Expression for Hypobetalipoproteinemia, Familial, 2

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

Pathways for Hypobetalipoproteinemia, Familial, 2

GO Terms for Hypobetalipoproteinemia, Familial, 2

Sources for Hypobetalipoproteinemia, Familial, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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33 ICD10
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37 KEGG
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40 MedGen
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43 MESH via Orphanet
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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