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 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:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 614028

MedGen ⁴² C3151467

MeSH ⁴⁴ D006951

SNOMED-CT via HPO ⁶⁹ 190786004 238080004

UMLS ⁷³ C3151467

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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

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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 24)

#	Related Disease	Score
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:

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Symptoms & Phenotypes for Apolipoprotein C-Iii Deficiency

Clinical features from OMIM:

614028

Human phenotypes related to Apolipoprotein C-Iii Deficiency:

³²

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

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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 ²⁹	APOC3

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Anatomical Context for Apolipoprotein C-Iii Deficiency

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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 )	Jong M.C....Havekes L.M.	2001

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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 ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹	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:

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

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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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