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 ⁵⁶ ¹² ⁷³ ³⁹ ⁷¹

Hyperalphalipoproteinemia 2 ⁵⁶ ¹² ⁷³ ²⁹ ¹³ ⁶

Halp2 ⁵⁶ ¹² ⁷³

Hyperalphalipoproteinemia 2; Halp2 ⁵⁶

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases

See all MalaCards categories (disease lists)

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

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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, 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

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Related Diseases for 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	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

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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, Liver

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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. ⁵⁶ ⁶	Saleheen D...Kathiresan S	28406212	2017
2	Loss-of-function mutations in APOC3 and risk of ischemic vascular disease. ⁵⁶ ⁶	Jorgensen AB...Tybjarg-Hansen A	24941082	2014
3	Loss-of-function mutations in APOC3, triglycerides, and coronary disease. ⁵⁶ 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. ⁵⁶ ⁶	Pollin TI...Shuldiner AR	19074352	2008
5	Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia. ⁵⁶ 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. ⁵⁶	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	PubmedIds
1	APOC3	Apolipoprotein C3	Protein Coding	1325	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Protective ⁶	19074352 24941081 24941082 (more) 2022742 25962519 28406212

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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.55+1G>A	SNV	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>T	SNV	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

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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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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

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

GO Terms for Apolipoprotein C-Iii Deficiency

Sources for Apolipoprotein C-Iii Deficiency