HALP2
MCID: APL024
MIFTS: 23

Apolipoprotein C-Iii Deficiency (HALP2)

Categories: Genetic diseases

Aliases & Classifications for Apolipoprotein C-Iii Deficiency

MalaCards integrated aliases for Apolipoprotein C-Iii Deficiency:

Name: Apolipoprotein C-Iii Deficiency 58 76 74
Hyperalphalipoproteinemia 2 58 76 30 13 6
Halp2 58 76
Hyperalphalipoproteinemia 2; Halp2 58
Apolipoprotein C-Iii Deficiency ) 41
Apolipoprotein C-Iii 13

Classifications:



External Ids:

OMIM 58 614028
MeSH 45 D006951
MedGen 43 C3151467
UMLS 74 C3151467

Summaries for Apolipoprotein C-Iii Deficiency

UniProtKB/Swiss-Prot : 76 Hyperalphalipoproteinemia 2: A condition characterized by high levels of high density lipoprotein (HDL) and increased HDL cholesterol levels.

MalaCards based summary : Apolipoprotein C-Iii Deficiency, also known as hyperalphalipoproteinemia 2, is related to hypertriglyceridemia, familial and arteries, anomalies of. An important gene associated with Apolipoprotein C-Iii Deficiency is APOC3 (Apolipoprotein C3). Affiliated tissues include liver, small intestine and kidney, and related phenotypes are hypotriglyceridemia and increased hdl cholesterol concentration

Wikipedia : 77 Apolipoprotein C-III also known as apo-CIII is a protein that in humans is encoded by the APOC3 gene.... more...

Description from OMIM: 614028

Related Diseases for Apolipoprotein C-Iii Deficiency

Graphical network of the top 20 diseases related to Apolipoprotein C-Iii Deficiency:



Diseases related to Apolipoprotein C-Iii Deficiency

Symptoms & Phenotypes for Apolipoprotein C-Iii Deficiency

Human phenotypes related to Apolipoprotein C-Iii Deficiency:

33
# Description HPO Frequency HPO Source Accession
1 hypotriglyceridemia 33 HP:0012153
2 increased hdl cholesterol concentration 33 HP:0012184
3 decreased ldl cholesterol concentration 33 HP:0003563

Clinical features from OMIM:

614028

Drugs & Therapeutics for Apolipoprotein C-Iii Deficiency

Search Clinical Trials , NIH Clinical Center for Apolipoprotein C-Iii Deficiency

Genetic Tests for Apolipoprotein C-Iii Deficiency

Genetic tests related to Apolipoprotein C-Iii Deficiency:

# Genetic test Affiliating Genes
1 Hyperalphalipoproteinemia 2 30 APOC3

Anatomical Context for Apolipoprotein C-Iii Deficiency

MalaCards organs/tissues related to Apolipoprotein C-Iii Deficiency:

42
Liver, Small Intestine, Kidney, Heart

Publications for Apolipoprotein C-Iii Deficiency

Articles related to Apolipoprotein C-Iii Deficiency:

# Title Authors Year
1
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. ( 28406212 )
2017
2
Erratum: A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans. ( 25962519 )
2015
3
Loss-of-function mutations in APOC3 and risk of ischemic vascular disease. ( 24941082 )
2014
4
Loss-of-function mutations in APOC3, triglycerides, and coronary disease. ( 24941081 )
2014
5
A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection. ( 19074352 )
2008
6
Apolipoprotein C-III deficiency accelerates triglyceride hydrolysis by lipoprotein lipase in wild-type and apoE knockout mice. ( 11590213 )
2001
7
Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia. ( 2022742 )
1991

Variations for Apolipoprotein C-Iii Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Apolipoprotein C-Iii Deficiency:

76
# Symbol AA change Variation ID SNP ID
1 APOC3 p.Lys78Glu VAR_000643 rs121918382

ClinVar genetic disease variations for Apolipoprotein C-Iii Deficiency:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 APOC3 NM_000040.2(APOC3): c.232A> G (p.Lys78Glu) single nucleotide variant Pathogenic rs121918382 GRCh37 Chromosome 11, 116703532: 116703532
2 APOC3 NM_000040.2(APOC3): c.232A> G (p.Lys78Glu) single nucleotide variant Pathogenic rs121918382 GRCh38 Chromosome 11, 116832816: 116832816
3 APOC3 NM_000040.1(APOC3): c.55C> T (p.Arg19Ter) single nucleotide variant Pathogenic rs76353203 GRCh37 Chromosome 11, 116701353: 116701353
4 APOC3 NM_000040.1(APOC3): c.55C> T (p.Arg19Ter) single nucleotide variant Pathogenic rs76353203 GRCh38 Chromosome 11, 116830637: 116830637
5 APOC3 NM_000040.2(APOC3): c.55+1G> A single nucleotide variant Pathogenic,protective rs138326449 GRCh38 Chromosome 11, 116830638: 116830638
6 APOC3 NM_000040.2(APOC3): c.55+1G> A single nucleotide variant Pathogenic,protective rs138326449 GRCh37 Chromosome 11, 116701354: 116701354
7 APOC3 NM_000040.2(APOC3): c.127G> A (p.Ala43Thr) single nucleotide variant Pathogenic,protective rs147210663 GRCh38 Chromosome 11, 116830844: 116830844
8 APOC3 NM_000040.2(APOC3): c.127G> A (p.Ala43Thr) single nucleotide variant Pathogenic,protective rs147210663 GRCh37 Chromosome 11, 116701560: 116701560
9 APOC3 NM_000040.2(APOC3): c.179+1G> T single nucleotide variant Pathogenic,protective rs140621530 GRCh38 Chromosome 11, 116830897: 116830897
10 APOC3 NM_000040.2(APOC3): c.179+1G> T single nucleotide variant Pathogenic,protective rs140621530 GRCh37 Chromosome 11, 116701613: 116701613
11 APOC3 NM_000040.2(APOC3): c.102T> C (p.Gly34=) single nucleotide variant Benign rs4520 GRCh37 Chromosome 11, 116701535: 116701535
12 APOC3 NM_000040.2(APOC3): c.102T> C (p.Gly34=) single nucleotide variant Benign rs4520 GRCh38 Chromosome 11, 116830819: 116830819

Expression for Apolipoprotein C-Iii Deficiency

Search GEO for disease gene expression data for Apolipoprotein C-Iii Deficiency.

Pathways for Apolipoprotein C-Iii Deficiency

GO Terms for Apolipoprotein C-Iii Deficiency

Sources for Apolipoprotein C-Iii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....