MCID: HYP290
MIFTS: 18

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 53 71 28 13 69
Fhbl2 53 12 71
Combined Hypobetalipoproteinemia Familial 71
Familial Hypobetalipoproteinemia 2 12
Hypolipidemia, Familial, Combined 53
Combined Familial Hypolipidemia 12

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
hypobetalipoproteinemia, familial, 2:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 605019
Disease Ontology 12 DOID:0111061
MedGen 39 C1857970
MeSH 41 D006995
SNOMED-CT via HPO 65 263681008 258211005 190786004
UMLS 69 C1857970

Summaries for Hypobetalipoproteinemia, Familial, 2

OMIM : 53 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 decreased circulating low-density lipoprotein levels and hypotriglyceridemia. An important gene associated with Hypobetalipoproteinemia, Familial, 2 is ANGPTL3 (Angiopoietin Like 3). Affiliated tissues include liver.

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 : 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.

Related Diseases for Hypobetalipoproteinemia, Familial, 2

Diseases in the Hypobetalipoproteinemia, Familial, 1 family:

Hypobetalipoproteinemia, Familial, 2

Symptoms & Phenotypes for Hypobetalipoproteinemia, Familial, 2

Symptoms via clinical synopsis from OMIM:

53
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:

31
# Description HPO Frequency HPO Source Accession
1 decreased circulating low-density lipoprotein levels 31 HP:0003563
2 hypotriglyceridemia 31 HP:0012153

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 28 ANGPTL3

Anatomical Context for Hypobetalipoproteinemia, Familial, 2

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

38
Liver

Publications for Hypobetalipoproteinemia, Familial, 2

Variations for Hypobetalipoproteinemia, Familial, 2

ClinVar genetic disease variations for Hypobetalipoproteinemia, Familial, 2:

6
# 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.439_442delAACT (p.Asn147Terfs) deletion Pathogenic rs398122987 GRCh38 Chromosome 1, 62598005: 62598008
4 ANGPTL3 NM_014495.3(ANGPTL3): c.1198+1G> T single nucleotide variant Pathogenic rs398122985 GRCh37 Chromosome 1, 63069907: 63069907
5 ANGPTL3 NM_014495.3(ANGPTL3): c.55delA (p.Ile19Leufs) deletion Pathogenic rs398122986 GRCh37 Chromosome 1, 63063292: 63063292
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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