MCID: APL017
MIFTS: 36

Apolipoprotein C-Ii Deficiency

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Endocrine diseases

Aliases & Classifications for Apolipoprotein C-Ii Deficiency

MalaCards integrated aliases for Apolipoprotein C-Ii Deficiency:

Name: Apolipoprotein C-Ii Deficiency 57 53 73
Hyperlipoproteinemia, Type Ib 57 53 13
Apolipoprotein C2 Deficiency 29 6 40
Apoc2 Deficiency 57 53 75
Familial Apolipoprotein C-Ii Deficiency 59 73
Apolipoprotein C-Ii 13 6
Hyperlipoproteinemia Type Ib 75
Familial Apoc-Ii Deficiency 59
Apolipoprotein C-Ii Variant 6
C-Ii Anapolipoproteinemia 57
Hyperlipoproteinemia 1b 75
Hlpp1b 75

Characteristics:

Orphanet epidemiological data:

59
familial apolipoprotein c-ii deficiency
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
transfusion of plasma, which has apoc-ii, causes decrease in plasma triglycerides


HPO:

32
apolipoprotein c-ii deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 207750
Orphanet 59 ORPHA309020
UMLS via Orphanet 74 C1720779 C0268199
ICD10 via Orphanet 34 E78.3
MedGen 42 C1720779

Summaries for Apolipoprotein C-Ii Deficiency

UniProtKB/Swiss-Prot : 75 Hyperlipoproteinemia 1B: Autosomal recessive trait characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis.

MalaCards based summary : Apolipoprotein C-Ii Deficiency, also known as hyperlipoproteinemia, type ib, is related to pancreatitis and arteries, anomalies of. An important gene associated with Apolipoprotein C-Ii Deficiency is APOC2 (Apolipoprotein C2), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Lipoprotein metabolism. Related phenotypes are splenomegaly and hepatomegaly

Wikipedia : 76 Apolipoprotein C2 or apolipoprotein C-II is a protein that in humans is encoded by the APOC2... more...

Description from OMIM: 207750

Related Diseases for Apolipoprotein C-Ii Deficiency

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



Diseases related to Apolipoprotein C-Ii Deficiency

Symptoms & Phenotypes for Apolipoprotein C-Ii Deficiency

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
lipemia retinalis (in severe cases)

Abdomen Pancreas:
pancreatitis

Skin Nails Hair Skin:
eruptive xanthomas

Abdomen Liver:
hepatomegaly

AbdomenSpleen:
splenomegaly

Laboratory Abnormalities:
hypertriglyceridemia
decreased plasma apolipoprotein c-ii
fasting chylomicronemia
'cloudy' or 'pink' blood (lipemia)


Clinical features from OMIM:

207750

Human phenotypes related to Apolipoprotein C-Ii Deficiency:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 hepatomegaly 32 HP:0002240
3 hypertriglyceridemia 32 HP:0002155
4 pancreatitis 32 HP:0001733
5 eruptive xanthomas 32 HP:0001013
6 lipemia retinalis 32 HP:0000660

Drugs & Therapeutics for Apolipoprotein C-Ii Deficiency

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

Genetic Tests for Apolipoprotein C-Ii Deficiency

Genetic tests related to Apolipoprotein C-Ii Deficiency:

# Genetic test Affiliating Genes
1 Apolipoprotein C2 Deficiency 29 APOC2

Anatomical Context for Apolipoprotein C-Ii Deficiency

Publications for Apolipoprotein C-Ii Deficiency

Articles related to Apolipoprotein C-Ii Deficiency:

(show all 24)
# Title Authors Year
1
A Novel APOC2 Missense Mutation Causing Apolipoprotein C-II Deficiency With Severe Triglyceridemia and Pancreatitis. ( 28201738 )
2017
2
Apolipoprotein C-II Tuzla: A novel large deletion in APOC2 caused by Alu-Alu homologous recombination in an infant with apolipoprotein C-II deficiency. ( 25172036 )
2014
3
Apolipoprotein C-II deficiency with no rare variant in the APOC2 gene. ( 23470567 )
2013
4
Diacylglycerol oil for apolipoprotein C-II deficiency. ( 17434913 )
2007
5
Apolipoprotein C-II deficiency presenting as a lipid encephalopathy in infancy. ( 12783430 )
2003
6
A case of apolipoprotein C-II deficiency with coronary artery disease. ( 12049186 )
2002
7
A thymidine to cytosine substitution for codon 26 of exon 3 of apolipoprotein C-II gene in a patient with apolipoprotein C-II deficiency. ( 10225669 )
1999
8
[Apolipoprotein C-II deficiency]. ( 7853717 )
1994
9
Heterozygous apolipoprotein C-II deficiency: lipoprotein and apoprotein phenotype and RsaI restriction enzyme polymorphism in the Apo C-IIPadova kindred. ( 7902280 )
1993
10
Apolipoprotein C-II deficiency syndrome due to apo C-IIHamburg: clinical and biochemical features and HphI restriction enzyme polymorphism. ( 1349286 )
1992
11
No severe bottleneck during human evolution: evidence from two apolipoprotein C-II deficiency alleles. ( 1990844 )
1991
12
A nonsense mutation in the apolipoprotein C-IIPadova gene in a patient with apolipoprotein C-II deficiency. ( 2477392 )
1989
13
A neonatal case of apolipoprotein C-II deficiency. ( 2501098 )
1989
14
Apolipoprotein C-II deficiency: identification of a structural variant ApoC-II Padova. ( 3395348 )
1988
15
Apolipoprotein C-II deficiency: detection of immunoreactive apolipoprotein C-II in the intestinal mucosa of two patients. ( 3171393 )
1988
16
Apolipoprotein C-II deficiency. ( 3541516 )
1986
17
Apolipoprotein C-II deficiency syndrome. Clinical features, lipoprotein characterization, lipase activity, and correction of hypertriglyceridemia after apolipoprotein C-II administration in two affected patients. ( 3944267 )
1986
18
Apolipoprotein C-II deficiency associated with nonfunctional mutant forms of apolipoprotein C-II. ( 6388756 )
1984
19
Apolipoprotein C-II deficiency revisited. ( 6727938 )
1984
20
Apolipoprotein C-II deficiency. The role of apolipoprotein C-II in the hydrolysis of triacylglycerol-rich lipoproteins. ( 6704413 )
1984
21
Familial lipoprotein lipase and apolipoprotein C-II deficiency. Lipoprotein and apoprotein analysis, adipose tissue and hepatic lipoprotein lipase levels in seven patients and their first degree relatives. ( 6651913 )
1983
22
Apolipoprotein and lipoprotein concentrations in familial apolipoprotein C-II deficiency. ( 7138621 )
1982
23
Familial type I hyperlipoproteinemia caused by apolipoprotein C-II deficiency. ( 227429 )
1979
24
Inheritance of apolipoprotein C-II deficiency with hypertriglyceridemia and pancreatitis. ( 213719 )
1978

Variations for Apolipoprotein C-Ii Deficiency

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

75
# Symbol AA change Variation ID SNP ID
1 APOC2 p.Trp48Arg VAR_000640 rs120074115

ClinVar genetic disease variations for Apolipoprotein C-Ii Deficiency:

6
(show all 48)
# Gene Variation Type Significance SNP ID Assembly Location
1 APOC2 NM_000483.4(APOC2): c.229A> C (p.Lys77Gln) single nucleotide variant Pathogenic rs5126 GRCh37 Chromosome 19, 45452429: 45452429
2 APOC2 NM_000483.4(APOC2): c.229A> C (p.Lys77Gln) single nucleotide variant Pathogenic rs5126 GRCh38 Chromosome 19, 44949172: 44949172
3 APOC2 NM_000483.4(APOC2): c.177C> A (p.Tyr59Ter) single nucleotide variant Pathogenic rs120074111 GRCh37 Chromosome 19, 45452079: 45452079
4 APOC2 NM_000483.4(APOC2): c.177C> A (p.Tyr59Ter) single nucleotide variant Pathogenic rs120074111 GRCh38 Chromosome 19, 44948822: 44948822
5 APOC2 APOC2, 1-BP INS insertion Pathogenic
6 APOC2 APOC2, 1-BP DEL deletion Pathogenic
7 APOC2 APOC2, IVS2, G-C, +1 single nucleotide variant Pathogenic
8 APOC2 APOC2, 1-BP DEL, 2943G deletion Pathogenic
9 APOC2 NM_000483.4(APOC2): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs120074112 GRCh37 Chromosome 19, 45451736: 45451736
10 APOC2 NM_000483.4(APOC2): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs120074112 GRCh38 Chromosome 19, 44948479: 44948479
11 APOC2 NM_000483.4(APOC2): c.177C> G (p.Tyr59Ter) single nucleotide variant Pathogenic rs120074111 GRCh37 Chromosome 19, 45452079: 45452079
12 APOC2 NM_000483.4(APOC2): c.177C> G (p.Tyr59Ter) single nucleotide variant Pathogenic rs120074111 GRCh38 Chromosome 19, 44948822: 44948822
13 APOC2 NM_000483.4(APOC2): c.122A> C (p.Lys41Thr) single nucleotide variant Pathogenic rs120074114 GRCh37 Chromosome 19, 45452024: 45452024
14 APOC2 NM_000483.4(APOC2): c.122A> C (p.Lys41Thr) single nucleotide variant Pathogenic rs120074114 GRCh38 Chromosome 19, 44948767: 44948767
15 APOC2 NM_000483.4(APOC2): c.178G> A (p.Glu60Lys) single nucleotide variant Pathogenic rs5122 GRCh37 Chromosome 19, 45452080: 45452080
16 APOC2 NM_000483.4(APOC2): c.178G> A (p.Glu60Lys) single nucleotide variant Pathogenic rs5122 GRCh38 Chromosome 19, 44948823: 44948823
17 APOC2 NM_000483.4(APOC2): c.142T> C (p.Trp48Arg) single nucleotide variant Pathogenic rs120074115 GRCh37 Chromosome 19, 45452044: 45452044
18 APOC2 NM_000483.4(APOC2): c.142T> C (p.Trp48Arg) single nucleotide variant Pathogenic rs120074115 GRCh38 Chromosome 19, 44948787: 44948787
19 APOC2 NM_000483.4(APOC2): c.255C> A (p.Tyr85Ter) single nucleotide variant Pathogenic rs120074116 GRCh37 Chromosome 19, 45452455: 45452455
20 APOC2 NM_000483.4(APOC2): c.255C> A (p.Tyr85Ter) single nucleotide variant Pathogenic rs120074116 GRCh38 Chromosome 19, 44949198: 44949198
21 APOC2 NM_000483.4(APOC2): c.*188_*189insT insertion Benign rs150448996 GRCh38 Chromosome 19, 44949437: 44949438
22 APOC2 NM_000483.4(APOC2): c.*188_*189insT insertion Benign rs150448996 GRCh37 Chromosome 19, 45452694: 45452695
23 APOC2 NM_000483.4(APOC2): c.*203G> A single nucleotide variant Uncertain significance rs886054487 GRCh38 Chromosome 19, 44949452: 44949452
24 APOC2 NM_000483.4(APOC2): c.*203G> A single nucleotide variant Uncertain significance rs886054487 GRCh37 Chromosome 19, 45452709: 45452709
25 APOC2 NM_000483.4(APOC2): c.301G> A (p.Glu101Lys) single nucleotide variant Uncertain significance rs886054485 GRCh38 Chromosome 19, 44949244: 44949244
26 APOC2 NM_000483.4(APOC2): c.301G> A (p.Glu101Lys) single nucleotide variant Uncertain significance rs886054485 GRCh37 Chromosome 19, 45452501: 45452501
27 APOC2 NM_000483.4(APOC2): c.*24C> T single nucleotide variant Uncertain significance rs780350789 GRCh38 Chromosome 19, 44949273: 44949273
28 APOC2 NM_000483.4(APOC2): c.*24C> T single nucleotide variant Uncertain significance rs780350789 GRCh37 Chromosome 19, 45452530: 45452530
29 APOC2 NM_000483.4(APOC2): c.*116T> C single nucleotide variant Uncertain significance rs537917972 GRCh38 Chromosome 19, 44949365: 44949365
30 APOC2 NM_000483.4(APOC2): c.*116T> C single nucleotide variant Uncertain significance rs537917972 GRCh37 Chromosome 19, 45452622: 45452622
31 APOC2 NM_000483.4(APOC2): c.*174T> C single nucleotide variant Uncertain significance rs886054486 GRCh38 Chromosome 19, 44949423: 44949423
32 APOC2 NM_000483.4(APOC2): c.*174T> C single nucleotide variant Uncertain significance rs886054486 GRCh37 Chromosome 19, 45452680: 45452680
33 APOC2 NM_000483.4(APOC2): c.-45C> T single nucleotide variant Uncertain significance rs886054484 GRCh38 Chromosome 19, 44946044: 44946044
34 APOC2 NM_000483.4(APOC2): c.-45C> T single nucleotide variant Uncertain significance rs886054484 GRCh37 Chromosome 19, 45449301: 45449301
35 APOC2 NM_000483.4(APOC2): c.*90C> T single nucleotide variant Likely benign rs7253690 GRCh38 Chromosome 19, 44949339: 44949339
36 APOC2 NM_000483.4(APOC2): c.*90C> T single nucleotide variant Likely benign rs7253690 GRCh37 Chromosome 19, 45452596: 45452596
37 APOC2 NM_000483.4(APOC2): c.*236C> T single nucleotide variant Uncertain significance rs142212854 GRCh38 Chromosome 19, 44949485: 44949485
38 APOC2 NM_000483.4(APOC2): c.*236C> T single nucleotide variant Uncertain significance rs142212854 GRCh37 Chromosome 19, 45452742: 45452742
39 APOC2 NM_000483.4(APOC2): c.*308dupT duplication Uncertain significance rs886054488 GRCh38 Chromosome 19, 44949557: 44949557
40 APOC2 NM_000483.4(APOC2): c.*308dupT duplication Uncertain significance rs886054488 GRCh37 Chromosome 19, 45452814: 45452814
41 APOC2 NM_000483.4(APOC2): c.-62T> G single nucleotide variant Benign rs2288911 GRCh38 Chromosome 19, 44946027: 44946027
42 APOC2 NM_000483.4(APOC2): c.-62T> G single nucleotide variant Benign rs2288911 GRCh37 Chromosome 19, 45449284: 45449284
43 APOC2 NM_000483.4(APOC2): c.-2C> T single nucleotide variant Uncertain significance rs5121 GRCh38 Chromosome 19, 44948477: 44948477
44 APOC2 NM_000483.4(APOC2): c.-2C> T single nucleotide variant Uncertain significance rs5121 GRCh37 Chromosome 19, 45451734: 45451734
45 APOC2 NM_000483.4(APOC2): c.102G> A (p.Pro34=) single nucleotide variant Uncertain significance rs199658000 GRCh38 Chromosome 19, 44948747: 44948747
46 APOC2 NM_000483.4(APOC2): c.102G> A (p.Pro34=) single nucleotide variant Uncertain significance rs199658000 GRCh37 Chromosome 19, 45452004: 45452004
47 APOC2 NM_000483.4(APOC2): c.*306C> T single nucleotide variant Benign rs1130742 GRCh38 Chromosome 19, 44949555: 44949555
48 APOC2 NM_000483.4(APOC2): c.*306C> T single nucleotide variant Benign rs1130742 GRCh37 Chromosome 19, 45452812: 45452812

Expression for Apolipoprotein C-Ii Deficiency

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

Pathways for Apolipoprotein C-Ii Deficiency

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.94 APOC2 GPIHBP1 LPL
2
Show member pathways
11.67 APOC2 GPIHBP1 LPL
3
Show member pathways
11.33 APOC2 LPL
4
Show member pathways
11.13 APOC2 GPIHBP1 LPL

GO Terms for Apolipoprotein C-Ii Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.5 APOC2 GPIHBP1 LPL
2 anchored component of membrane GO:0031225 9.26 GPIHBP1 LPL
3 high-density lipoprotein particle GO:0034364 9.16 APOC2 GPIHBP1
4 very-low-density lipoprotein particle GO:0034361 8.96 APOC2 LPL
5 chylomicron GO:0042627 8.62 APOC2 LPL

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

# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.46 APOC2 LPL
2 lipid catabolic process GO:0016042 9.43 APOC2 LPL
3 cholesterol homeostasis GO:0042632 9.43 APOC2 GPIHBP1 LPL
4 positive regulation of lipoprotein lipase activity GO:0051006 9.4 APOC2 GPIHBP1
5 very-low-density lipoprotein particle remodeling GO:0034372 9.37 APOC2 LPL
6 retinoid metabolic process GO:0001523 9.33 APOC2 GPIHBP1 LPL
7 regulation of lipoprotein lipase activity GO:0051004 9.32 GPIHBP1 LPL
8 triglyceride homeostasis GO:0070328 9.13 APOC2 GPIHBP1 LPL
9 chylomicron remodeling GO:0034371 8.8 APOC2 GPIHBP1 LPL

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

# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 8.62 APOC2 GPIHBP1

Sources for Apolipoprotein C-Ii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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