HALP2
MCID: APL024
MIFTS: 21

Apolipoprotein C-Iii Deficiency (HALP2)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Apolipoprotein C-Iii Deficiency

MalaCards integrated aliases for Apolipoprotein C-Iii Deficiency:

Name: Apolipoprotein C-Iii Deficiency 56 12 73 39 71
Hyperalphalipoproteinemia 2 56 12 73 29 13 6
Halp2 56 12 73
Hyperalphalipoproteinemia 2; Halp2 56

Classifications:



External Ids:

Disease Ontology 12 DOID:0111370
OMIM 56 614028
MeSH 43 D006951
MedGen 41 C3151467
SNOMED-CT via HPO 68 190786004 238080004
UMLS 71 C3151467

Summaries for Apolipoprotein C-Iii Deficiency

Disease Ontology : 12 A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has material basis in heterozygous mutation in APOC3 on chromosome 11q23.3.

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 small intestine and liver, and related phenotypes are increased hdl cholesterol concentration and hypotriglyceridemia

UniProtKB/Swiss-Prot : 73 Hyperalphalipoproteinemia 2: A condition characterized by high levels of high density lipoprotein (HDL) and increased HDL cholesterol levels.

Wikipedia : 74 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:

31
# Description HPO Frequency HPO Source Accession
1 increased hdl cholesterol concentration 31 HP:0012184
2 hypotriglyceridemia 31 HP:0012153
3 decreased ldl cholesterol concentration 31 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:

40
Small Intestine, Liver

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. 56 6
28406212 2017
2
Loss-of-function mutations in APOC3 and risk of ischemic vascular disease. 56 6
24941082 2014
3
Loss-of-function mutations in APOC3, triglycerides, and coronary disease. 56 6
24941081 2014
4
A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection. 56 6
19074352 2008
5
Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia. 56 6
2022742 1991
6
Erratum: A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans. 6
25962519 2015
7
A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans. 56
25225788 2014
8
D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile. 61
26790392 2016
9
Apolipoprotein C-III deficiency accelerates triglyceride hydrolysis by lipoprotein lipase in wild-type and apoE knockout mice. 61
11590213 2001

Variations for Apolipoprotein C-Iii Deficiency

ClinVar genetic disease variations for Apolipoprotein C-Iii Deficiency:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 APOC3 NM_000040.3(APOC3):c.55+1G>ASNV Pathogenic,protective 139560 rs138326449 11:116701354-116701354 11:116830638-116830638
2 APOC3 NM_000040.3(APOC3):c.127G>A (p.Ala43Thr)SNV Pathogenic,protective 139561 rs147210663 11:116701560-116701560 11:116830844-116830844
3 APOC3 NM_000040.3(APOC3):c.232A>G (p.Lys78Glu)SNV Pathogenic 17903 rs121918382 11:116703532-116703532 11:116832816-116832816
4 APOC3 NM_000040.3(APOC3):c.55C>T (p.Arg19Ter)SNV Pathogenic 17904 rs76353203 11:116701353-116701353 11:116830637-116830637
5 APOC3 NM_000040.3(APOC3):c.179+1G>TSNV Likely benign 139562 rs140621530 11:116701613-116701613 11:116830897-116830897
6 APOC3 NM_000040.3(APOC3):c.102T>C (p.Gly34=)SNV Benign 518235 rs4520 11:116701535-116701535 11:116830819-116830819

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

73
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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