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 ¹² ⁷³ ¹⁵ ³⁹ ⁷¹

Hyperalphalipoproteinemia 2 ⁵⁷ ¹² ⁷³ ²⁹ ¹³ ⁶

Halp2 ⁵⁷ ¹² ⁷³

Hyperalphalipoproteinemia 2; Halp2 ⁵⁷

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111370

OMIM® ⁵⁷ 614028

MeSH ⁴⁴ D006951

MedGen ⁴¹ C3151467

SNOMED-CT via HPO ⁶⁸ 190786004 238080004

UMLS ⁷¹ C3151467

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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, also known as hyperalphalipoproteinemia 2, is related to hyperlipoproteinemia, type i and familial lipoprotein lipase deficiency. An important gene associated with Apolipoprotein C-Iii Deficiency is APOC3 (Apolipoprotein C3), and among its related pathways/superpathways are Lipoprotein metabolism and Statin Pathway. Affiliated tissues include small intestine, and related phenotypes are decreased ldl 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, and apolipoprotein C3, is a protein that in humans is... more...

More information 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 15)

#	Related Disease	Score	Top Affiliating Genes
1	hyperlipoproteinemia, type i	10.0	LPL APOC3
2	familial lipoprotein lipase deficiency	10.0	LPL APOC3
3	familial apolipoprotein c-ii deficiency	9.9	LPL APOC3
4	hyperlipoproteinemia, type v	9.9	LPL APOC3
5	hypolipoproteinemia	9.9	LPL APOC3
6	coronary heart disease 1	9.9	LPL APOC3
7	hypertriglyceridemia, familial	9.9	LPL APOC3
8	hyperalphalipoproteinemia 1	9.9	LPL APOC3
9	hyperlipidemia, familial combined, 3	9.9	LPL APOC3
10	uremia	9.9	LPL APOC3
11	familial hyperlipidemia	9.8	LPL APOC3
12	inherited metabolic disorder	9.8	LPL APOC3
13	lipid metabolism disorder	9.7	LPL APOC3
14	atherosclerosis susceptibility	9.6	LPL APOC3
15	hyperlipoproteinemia, type iv	9.5	LPL APOC4 APOC3

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:

³¹

#	Description	HPO Source Accession
1	decreased ldl cholesterol concentration ³¹	HP:0003563
2	hypotriglyceridemia ³¹	HP:0012153
3	increased hdl cholesterol concentration ³¹	HP:0012184

Clinical features from OMIM®:

614028 (Updated 05-Mar-2021)

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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

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

⁴⁰

Small Intestine

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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. ⁶ ⁵⁷	Saleheen D...Kathiresan S	28406212	2017
2	Loss-of-function mutations in APOC3 and risk of ischemic vascular disease. ⁶ ⁵⁷	Jorgensen AB...Tybjarg-Hansen A	24941082	2014
3	Loss-of-function mutations in APOC3, triglycerides, and coronary disease. ⁵⁷ ⁶	TG and HDL Working Group of the Exome Sequencing Project, National Heart, Lung, and Blood Institute...Kathiresan S	24941081	2014
4	A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection. ⁶ ⁵⁷	Pollin TI...Shuldiner AR	19074352	2008
5	Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia. ⁵⁷ ⁶	von Eckardstein A...Assmann G	2022742	1991
6	Erratum: A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans. ⁶	Timpson NJ...UK10K Consortium	25962519	2015
7	A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans. ⁵⁷	Timpson NJ...UK1OK Consortium Members	25225788	2014
8	D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile. ⁶¹	Valleix S...Bellotti V	26790392	2016
9	Apolipoprotein C-III deficiency accelerates triglyceride hydrolysis by lipoprotein lipase in wild-type and apoE knockout mice. ⁶¹	Jong MC...Havekes LM	11590213	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	PubMed IDs
1	APOC3	Apolipoprotein C3	Protein Coding	1306.16	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵	2022742
2	ARHGAP44	Rho GTPase Activating Protein 44	Protein Coding	5.78	DISEASES inferred ¹⁵
3	ZNF592	Zinc Finger Protein 592	Protein Coding	5.7	DISEASES inferred ¹⁵
4	LPL	Lipoprotein Lipase	Protein Coding	5.42	DISEASES inferred ¹⁵
5	APOC4	Apolipoprotein C4	Protein Coding	5.29	DISEASES inferred ¹⁵
6	NPAS3	Neuronal PAS Domain Protein 3	Protein Coding	5.17	DISEASES inferred ¹⁵

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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.232A>G (p.Lys78Glu)	SNV	Pathogenic	17903	rs121918382	11:116703532-116703532	11:116832816-116832816
2	APOC3	NM_000040.3(APOC3):c.55+1G>A	SNV	Pathogenic	139560	rs138326449	11:116701354-116701354	11:116830638-116830638
3	APOC3	NM_000040.3(APOC3):c.179+1G>T	SNV	Pathogenic	139562	rs140621530	11:116701613-116701613	11:116830897-116830897
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.127G>A (p.Ala43Thr)	SNV	Pathogenic	139561	rs147210663	11:116701560-116701560	11:116830844-116830844
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

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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

Pathways related to Apolipoprotein C-Iii Deficiency according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Lipoprotein metabolism ⁶⁵ Show member pathways Chylomicron-mediated lipid transport ⁶⁵ Digestion of dietary lipid ⁶⁵ HDL-mediated lipid transport ⁶⁵ Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis ⁶⁵ LDL-mediated lipid transport ⁶⁵ Lipid digestion, mobilization, and transport ⁶⁵ Reelin signalling pathway ⁶⁵ VLDL biosynthesis ⁶⁵ VLDL interactions ⁶⁵ VLDLR internalisation and degradation ⁶⁵	11.33	LPL APOC4 APOC3
2	Statin Pathway ¹ Show member pathways Cholesterol metabolism ³⁶ Composition of Lipid Particles ¹ Statin Pathway, Pharmacodynamics ⁶⁰	11.23	LPL APOC3
3	PPAR signaling pathway ³⁶	10.84	LPL APOC3

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GO Terms for Apolipoprotein C-Iii Deficiency

Cellular components related to Apolipoprotein C-Iii Deficiency according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	chylomicron	GO:0042627	8.96	LPL APOC3
2	very-low-density lipoprotein particle	GO:0034361	8.8	LPL APOC4 APOC3

Biological processes related to Apolipoprotein C-Iii Deficiency according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	lipid metabolic process	GO:0006629	9.63	LPL APOC4 APOC3
2	lipid transport	GO:0006869	9.49	APOC4 APOC3
3	lipid catabolic process	GO:0016042	9.48	LPL APOC3
4	cholesterol homeostasis	GO:0042632	9.43	LPL APOC3
5	retinoid metabolic process	GO:0001523	9.4	LPL APOC3
6	triglyceride metabolic process	GO:0006641	9.37	LPL APOC3
7	triglyceride catabolic process	GO:0019433	9.32	LPL APOC3
8	very-low-density lipoprotein particle assembly	GO:0034379	9.26	APOC4 APOC3
9	chylomicron remodeling	GO:0034371	9.16	LPL APOC3
10	positive regulation of sequestering of triglyceride	GO:0010890	8.96	LPL APOC4
11	triglyceride homeostasis	GO:0070328	8.8	LPL APOC4 APOC3

Molecular functions related to Apolipoprotein C-Iii Deficiency according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	phospholipid binding	GO:0005543	8.62	ARHGAP44 APOC3

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Sources for Apolipoprotein C-Iii Deficiency

¹ BioSystems

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

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⁶⁹ TGDB

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

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

ClinVar genetic disease variations for Apolipoprotein C-Iii Deficiency:

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

Expression for Apolipoprotein C-Iii Deficiency

Pathways for Apolipoprotein C-Iii Deficiency

Pathways related to Apolipoprotein C-Iii Deficiency according to GeneCards Suite gene sharing:

GO Terms for Apolipoprotein C-Iii Deficiency

Cellular components related to Apolipoprotein C-Iii Deficiency according to GeneCards Suite gene sharing:

Biological processes related to Apolipoprotein C-Iii Deficiency according to GeneCards Suite gene sharing:

Molecular functions related to Apolipoprotein C-Iii Deficiency according to GeneCards Suite gene sharing:

Sources for Apolipoprotein C-Iii Deficiency