Apolipoprotein C-Iii Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 614028

MeSH ⁴⁵ D006951

MedGen ⁴³ C3151467

SNOMED-CT via HPO ⁷⁰ 190786004 238080004 247796005 more

UMLS ⁷⁴ C3151467

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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

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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 28)

#	Related Disease	Score
1	hypertriglyceridemia, familial	10.5
2	arteries, anomalies of	10.3
3	coronary artery anomaly	10.3
4	heart disease	10.3
5	coronary heart disease 1	10.3
6	diabetes mellitus, noninsulin-dependent	10.2
7	atherosclerosis susceptibility	10.1
8	hyperalphalipoproteinemia 1	10.1
9	myocardial infarction	10.1
10	chronic kidney failure	10.1
11	lipid metabolism disorder	10.1
12	kidney disease	10.1
13	fatty liver disease	10.1
14	alzheimer disease	9.9
15	hyperlipidemia, familial combined	9.9
16	glycogen storage disease iii	9.9
17	congenital disorder of glycosylation, type in	9.9
18	gastric cancer	9.9
19	acute myocardial infarction	9.9
20	diabetes mellitus	9.9
21	glycogen storage disease	9.9
22	hepatitis	9.9
23	glucose intolerance	9.9
24	hepatitis c	9.9
25	cutis laxa	9.9
26	uremia	9.9
27	amyloidosis	9.9
28	rapidly involuting congenital hemangioma	9.9

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

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Symptoms & Phenotypes for Apolipoprotein C-Iii Deficiency

Human phenotypes related to Apolipoprotein C-Iii Deficiency:

³³

#	Description	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

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Drugs & Therapeutics for Apolipoprotein C-Iii Deficiency

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

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Genetic Tests for Apolipoprotein C-Iii Deficiency

Genetic tests related to Apolipoprotein C-Iii Deficiency:

#	Genetic test	Affiliating Genes
1	Hyperalphalipoproteinemia 2 ³⁰	APOC3

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Anatomical Context for Apolipoprotein C-Iii Deficiency

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

⁴²

Liver, Small Intestine, Kidney, Heart

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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 )	Saleheen D...Kathiresan S	2017
2	Erratum: A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans. ( 25962519 )	Timpson NJ...UK10K Consortium	2015
3	Loss-of-function mutations in APOC3 and risk of ischemic vascular disease. ( 24941082 )	J?rgensen AB...Tybj?rg-Hansen A	2014
4	Loss-of-function mutations in APOC3, triglycerides, and coronary disease. ( 24941081 )	TG and HDL Working Group of the Exome Sequencing Project, National Heart, Lung, and Blood Institute...Kathiresan S	2014
5	A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection. ( 19074352 )	Pollin TI...Shuldiner AR	2008
6	Apolipoprotein C-III deficiency accelerates triglyceride hydrolysis by lipoprotein lipase in wild-type and apoE knockout mice. ( 11590213 )	Jong MC...Havekes LM	2001
7	Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia. ( 2022742 )	von Eckardstein A...Assmann G	1991

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Genes for Apolipoprotein C-Iii Deficiency

Genes related to Apolipoprotein C-Iii Deficiency (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	APOC3	Apolipoprotein C3	Protein Coding	1325	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ Protective ⁶	2022742 19074352 24941081 (more) 24941082 28406212 25962519

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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

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Expression for Apolipoprotein C-Iii Deficiency

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

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Pathways for Apolipoprotein C-Iii Deficiency

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GO Terms for Apolipoprotein C-Iii Deficiency

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Apolipoprotein C-Iii Deficiency (HALP2)

Aliases & Classifications for Apolipoprotein C-Iii Deficiency

MalaCards integrated aliases for Apolipoprotein C-Iii Deficiency:

Classifications:

External Ids:

Summaries for Apolipoprotein C-Iii Deficiency

Related Diseases for Apolipoprotein C-Iii Deficiency

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

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

Symptoms & Phenotypes for Apolipoprotein C-Iii Deficiency

Human phenotypes related to Apolipoprotein C-Iii Deficiency:

Clinical features from OMIM:

Drugs & Therapeutics for Apolipoprotein C-Iii Deficiency

Genetic Tests for Apolipoprotein C-Iii Deficiency

Genetic tests related to Apolipoprotein C-Iii Deficiency:

Anatomical Context for Apolipoprotein C-Iii Deficiency

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

Publications for Apolipoprotein C-Iii Deficiency

Articles related to Apolipoprotein C-Iii Deficiency:

Genes for Apolipoprotein C-Iii Deficiency

Genes related to Apolipoprotein C-Iii Deficiency (1 elite genes):

Variations for Apolipoprotein C-Iii Deficiency

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

ClinVar genetic disease variations for Apolipoprotein C-Iii Deficiency:

Expression for Apolipoprotein C-Iii Deficiency

Pathways for Apolipoprotein C-Iii Deficiency

GO Terms for Apolipoprotein C-Iii Deficiency

Sources for Apolipoprotein C-Iii Deficiency