MCID: APL024
MIFTS: 20

Apolipoprotein C-Iii Deficiency

Categories: Genetic diseases

Aliases & Classifications for Apolipoprotein C-Iii Deficiency

MalaCards integrated aliases for Apolipoprotein C-Iii Deficiency:

Name: Apolipoprotein C-Iii Deficiency 57 75 73
Hyperalphalipoproteinemia 2 57 75 29 13 6
Halp2 57 75
Hyperalphalipoproteinemia 2; Halp2 57
Apolipoprotein C-Iii Deficiency ) 40
Apolipoprotein C-Iii 13

Classifications:



External Ids:

OMIM 57 614028
MedGen 42 C3151467
MeSH 44 D006951
SNOMED-CT via HPO 69 190786004 238080004
UMLS 73 C3151467

Summaries for Apolipoprotein C-Iii Deficiency

UniProtKB/Swiss-Prot : 75 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 hepatitis and arteries, anomalies of. An important gene associated with Apolipoprotein C-Iii Deficiency is APOC3 (Apolipoprotein C3). Related phenotypes are decreased ldl cholesterol conncentration and hypotriglyceridemia

Wikipedia : 76 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

Diseases related to Apolipoprotein C-Iii Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 hepatitis 10.1
2 arteries, anomalies of 10.1
3 diabetes mellitus, noninsulin-dependent 10.1
4 coronary artery anomaly 10.1
5 aging 10.0
6 heart disease 10.0
7 coronary heart disease 1 9.9
8 myocardial infarction 9.9
9 chronic kidney failure 9.9
10 kidney disease 9.9
11 alzheimer disease 9.8
12 hyperlipidemia, familial combined 9.8
13 hypertension, essential 9.8
14 glycogen storage disease iii 9.8
15 body mass index quantitative trait locus 11 9.8
16 acute myocardial infarction 9.8
17 glycogen storage disease 9.8
18 glucose intolerance 9.8
19 schistosomiasis 9.8
20 cutis laxa 9.8
21 uremia 9.8
22 myocarditis 9.8
23 amyloidosis 9.8
24 fatty liver disease 9.8

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

Clinical features from OMIM:

614028

Human phenotypes related to Apolipoprotein C-Iii Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 decreased ldl cholesterol conncentration 32 HP:0003563
2 hypotriglyceridemia 32 HP:0012153
3 increased hdl cholesterol concentration 32 HP:0012184

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 29 APOC3

Anatomical Context for Apolipoprotein C-Iii Deficiency

Publications for Apolipoprotein C-Iii Deficiency

Articles related to Apolipoprotein C-Iii Deficiency:

# Title Authors Year
1
Apolipoprotein C-III deficiency accelerates triglyceride hydrolysis by lipoprotein lipase in wild-type and apoE knockout mice. ( 11590213 )
2001

Variations for Apolipoprotein C-Iii Deficiency

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

75
# 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_000040.2(APOC3): c.55C> T (p.Arg19Ter) single nucleotide variant Pathogenic rs76353203 GRCh37 Chromosome 11, 116701353: 116701353
4 APOC3 NM_000040.2(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 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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