MCID: HYP290
MIFTS: 20

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 57 75 29 13 6 73
Fhbl2 57 12 75
Combined Hypobetalipoproteinemia Familial 75
Hypobetalipoproteinemia, Familial, Type 2 40
Familial Hypobetalipoproteinemia 2 12
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 dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 605019
Disease Ontology 12 DOID:0111061
MedGen 42 C1857970
MeSH 44 D006995
SNOMED-CT via HPO 69 263681008 258211005 190786004
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, is also known as fhbl2. An important gene associated with Hypobetalipoproteinemia, Familial, 2 is ANGPTL3 (Angiopoietin Like 3). Affiliated tissues include liver, and related phenotypes are decreased ldl cholesterol conncentration and hypotriglyceridemia

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

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 decreased ldl cholesterol conncentration 32 HP:0003563
2 hypotriglyceridemia 32 HP:0012153

MGI Mouse Phenotypes related to Hypobetalipoproteinemia, Familial, 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.62 ANGPTL3 DOCK7

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

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

GO Terms for Hypobetalipoproteinemia, Familial, 2

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

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 8.62 ANGPTL3 DOCK7

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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