HALP2
MCID: APL024
MIFTS: 20

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 57 74 40 72
Hyperalphalipoproteinemia 2 57 74 29 13 6
Halp2 57 74
Hyperalphalipoproteinemia 2; Halp2 57

Classifications:



External Ids:

OMIM 57 614028
MeSH 44 D006951
MedGen 42 C3151467
UMLS 72 C3151467

Summaries for Apolipoprotein C-Iii Deficiency

UniProtKB/Swiss-Prot : 74 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, is also known as hyperalphalipoproteinemia 2. An important gene associated with Apolipoprotein C-Iii Deficiency is APOC3 (Apolipoprotein C3). Affiliated tissues include liver and small intestine, and related phenotypes are increased hdl cholesterol concentration and hypotriglyceridemia

Wikipedia : 75 Apolipoprotein C-III also known as apo-CIII is a protein that in humans is encoded by the APOC3 gene.... more...

More information from OMIM: 614028

Related Diseases for Apolipoprotein C-Iii Deficiency

Symptoms & Phenotypes for Apolipoprotein C-Iii Deficiency

Human phenotypes related to Apolipoprotein C-Iii Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 increased hdl cholesterol concentration 32 HP:0012184
2 hypotriglyceridemia 32 HP:0012153
3 decreased ldl cholesterol concentration 32 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 29 APOC3

Anatomical Context for Apolipoprotein C-Iii Deficiency

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

41
Liver, Small Intestine

Publications for Apolipoprotein C-Iii Deficiency

Articles related to Apolipoprotein C-Iii Deficiency:

# Title Authors PMID Year
1
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. 8 71
28406212 2017
2
Loss-of-function mutations in APOC3 and risk of ischemic vascular disease. 8 71
24941082 2014
3
Loss-of-function mutations in APOC3, triglycerides, and coronary disease. 8 71
24941081 2014
4
A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection. 8 71
19074352 2008
5
Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia. 8 71
2022742 1991
6
Erratum: A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans. 71
25962519 2015
7
A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans. 8
25225788 2014
8
D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile. 38
26790392 2016
9
Apolipoprotein C-III deficiency accelerates triglyceride hydrolysis by lipoprotein lipase in wild-type and apoE knockout mice. 38
11590213 2001

Variations for Apolipoprotein C-Iii Deficiency

ClinVar genetic disease variations for Apolipoprotein C-Iii Deficiency:

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

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

74
# Symbol AA change Variation ID SNP ID
1 APOC3 p.Lys78Glu VAR_000643 rs121918382

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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