MCID: APL024
MIFTS: 24

Apolipoprotein C-Iii Deficiency

Categories: Genetic diseases

Aliases & Classifications for Apolipoprotein C-Iii Deficiency

MalaCards integrated aliases for Apolipoprotein C-Iii Deficiency:

Name: Apolipoprotein C-Iii Deficiency 54 24 71 69
Hyperalphalipoproteinemia 2 24 71 29 13
Apolipoprotein C-Iii 13
Halp2 71

Classifications:



External Ids:

OMIM 54 614028
MedGen 40 C3151467
MeSH 42 D006951
SNOMED-CT via HPO 65 190786004 238080004

Summaries for Apolipoprotein C-Iii Deficiency

UniProtKB/Swiss-Prot : 71 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 and hepatitis, and has symptoms including hypobetalipoproteinemia, hypotriglyceridemia and hyperalphalipoproteinemia. An important gene associated with Apolipoprotein C-Iii Deficiency is APOC3 (Apolipoprotein C3). The drugs Cholecalciferol and Ergocalciferol have been mentioned in the context of this disorder. Affiliated tissues include bone.

Description from OMIM: 614028

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 16)
id Related Disease Score Top Affiliating Genes
1 hypertriglyceridemia 10.2
2 hepatitis 10.1
3 coronary artery disease 10.0
4 artery disease 10.0
5 heart disease 9.9
6 kidney disease 9.9
7 myocardial infarction 9.9
8 hyperalphalipoproteinemia 9.9
9 cutis laxa 9.7
10 uremia 9.7
11 myocarditis 9.7
12 amyloidosis 9.7
13 obesity 9.7
14 acute myocardial infarction 9.7
15 atherosclerosis 9.7
16 glucose intolerance 9.7

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



Diseases related to Apolipoprotein C-Iii Deficiency

Symptoms & Phenotypes for Apolipoprotein C-Iii Deficiency

Clinical features from OMIM:

614028

Human phenotypes related to Apolipoprotein C-Iii Deficiency:

32
id Description HPO Frequency HPO Source Accession
1 hypobetalipoproteinemia 32 HP:0003563
2 hypotriglyceridemia 32 HP:0012153
3 hyperalphalipoproteinemia 32 HP:0012184

Drugs & Therapeutics for Apolipoprotein C-Iii Deficiency

Drugs for Apolipoprotein C-Iii Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cholecalciferol Approved, Nutraceutical Phase 4 67-97-0 6221 10883523 5280795
2
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
3
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
4 Bone Density Conservation Agents Phase 4
5 Ergocalciferols Phase 4
6 Micronutrients Phase 4
7 Trace Elements Phase 4
8 Vitamins Phase 4
9 Calciferol Nutraceutical Phase 4
10 Vitamin D2 Nutraceutical Phase 4

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Effect of Vitamin D on Metabolic Parameters in Patients With the Metabolic Syndrome Unknown status NCT01237769 Phase 4 Vitamin D3

Search NIH Clinical Center for Apolipoprotein C-Iii Deficiency

Genetic Tests for Apolipoprotein C-Iii Deficiency

Genetic tests related to Apolipoprotein C-Iii Deficiency:

id Genetic test Affiliating Genes
1 Hyperalphalipoproteinemia 2 29
2 Apolipoprotein C-Iii Deficiency 24 APOC3

Anatomical Context for Apolipoprotein C-Iii Deficiency

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

39
Bone

Publications for Apolipoprotein C-Iii Deficiency

Articles related to Apolipoprotein C-Iii Deficiency:

id Title Authors Year
1
Apolipoprotein C-III deficiency accelerates triglyceride hydrolysis by lipoprotein lipase in wild-type and apoE knockout mice. ( 11590213 )
2001

Variations for Apolipoprotein C-Iii Deficiency

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

71
id Symbol AA change Variation ID SNP ID
1 APOC3 p.Lys78Glu VAR_000643 rs121918382

ClinVar genetic disease variations for Apolipoprotein C-Iii Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 APOC3 NM_000040.1(APOC3): c.232A> G (p.Lys78Glu) single nucleotide variant Pathogenic rs121918382 GRCh37 Chromosome 11, 116703532: 116703532
2 APOC3 NM_000040.1(APOC3): c.55C> T (p.Arg19Ter) single nucleotide variant Pathogenic,protective rs76353203 GRCh37 Chromosome 11, 116701353: 116701353
3 APOC3 NM_000040.1(APOC3): c.55+1G> A single nucleotide variant Pathogenic,protective rs138326449 GRCh38 Chromosome 11, 116830638: 116830638
4 APOC3 NM_000040.1(APOC3): c.127G> A (p.Ala43Thr) single nucleotide variant Pathogenic,protective rs147210663 GRCh38 Chromosome 11, 116830844: 116830844
5 APOC3 NM_000040.1(APOC3): c.179+1G> T single nucleotide variant Pathogenic,protective rs140621530 GRCh38 Chromosome 11, 116830897: 116830897

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
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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