HLPP1B
MCID: APL017
MIFTS: 40

Apolipoprotein C-Ii Deficiency (HLPP1B)

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

Aliases & Classifications for Apolipoprotein C-Ii Deficiency

MalaCards integrated aliases for Apolipoprotein C-Ii Deficiency:

Name: Apolipoprotein C-Ii Deficiency 57 20 70
Hyperlipoproteinemia, Type Ib 57 20 13
Apolipoprotein C2 Deficiency 29 6 39
Apoc2 Deficiency 57 20 72
Familial Apolipoprotein C-Ii Deficiency 58 70
Hyperlipoproteinemia Type Ib 72
Familial Apoc-Ii Deficiency 58
Apolipoprotein C-Ii Variant 6
C-Ii Anapolipoproteinemia 57
Familial Apoc2 Deficiency 58
Hyperlipoproteinemia 1b 72
Apolipoprotein C-Ii 6
Hlpp1b 72

Characteristics:

Orphanet epidemiological data:

58
familial apolipoprotein c-ii deficiency
Inheritance: Autosomal recessive;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
apolipoprotein c-ii deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare endocrine diseases


External Ids:

OMIM® 57 207750
ICD10 via Orphanet 33 E78.3
UMLS via Orphanet 71 C0268199 C1720779
Orphanet 58 ORPHA309020
MedGen 41 C1720779
UMLS 70 C0268199 C1720779

Summaries for Apolipoprotein C-Ii Deficiency

OMIM® : 57 Clinically and biochemically, apoC-II deficiency closely simulates lipoprotein lipase deficiency, or hyperlipoproteinemia type I (238600), and is therefore referred to as hyperlipoproteinemia type IB. (207750) (Updated 20-May-2021)

MalaCards based summary : Apolipoprotein C-Ii Deficiency, also known as hyperlipoproteinemia, type ib, is related to familial apolipoprotein c-ii deficiency and hypertriglyceridemia, familial. 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. Affiliated tissues include heart, and related phenotypes are splenomegaly and hepatomegaly

UniProtKB/Swiss-Prot : 72 Hyperlipoproteinemia 1B: Autosomal recessive trait characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis.

Wikipedia : 73 Apolipoprotein C-II or apolipoprotein C2 is a protein that in humans is encoded by the APOC2... more...

Related Diseases for Apolipoprotein C-Ii Deficiency

Diseases related to Apolipoprotein C-Ii Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 familial apolipoprotein c-ii deficiency 31.5 LPL GPIHBP1 APOC2
2 hypertriglyceridemia, familial 30.3 LPL APOC2
3 acute pancreatitis 29.7 LPL APOC2
4 pancreatitis 29.6 LPL APOC2
5 familial hyperlipidemia 29.6 LPL APOC2
6 familial lipoprotein lipase deficiency 29.5 LPL GPIHBP1 APOC2
7 hyperlipoproteinemia, type i 29.3 LPL GPIHBP1 APOC4-APOC2 APOC2
8 helix syndrome 10.2
9 huntington disease-like 3 10.1
10 lipid metabolism disorder 10.1
11 splenomegaly 10.1
12 amyloidosis 10.0
13 arteries, anomalies of 10.0
14 huntington disease-like 2 10.0
15 lipoprotein quantitative trait locus 10.0
16 autosomal recessive disease 10.0
17 cholelithiasis 10.0
18 encephalopathy 10.0
19 atherosclerosis susceptibility 10.0
20 hypoglycemia 10.0
21 hypercholesterolemia, familial, 1 9.9
22 systemic lupus erythematosus 9.9
23 suppressor of tumorigenicity 3 9.9
24 cervical cancer 9.9
25 coronary heart disease 1 9.9
26 hypobetalipoproteinemia, familial, 1 9.9
27 rapidly involuting congenital hemangioma 9.9
28 heart disease 9.9
29 prediabetes syndrome 9.9
30 nephrotic syndrome 9.9
31 uremia 9.9
32 lupus erythematosus 9.9
33 48,xyyy 9.9
34 hereditary amyloidosis 9.9
35 lipase deficiency, combined 9.8 LPL GPIHBP1
36 hyperlipoproteinemia, type v 9.8 LPL APOC2
37 hyperlipoproteinemia, type iii 9.8 LPL APOC2
38 hypolipoproteinemia 9.7 LPL APOC2
39 abetalipoproteinemia 9.7 LPL APOC2
40 hyperlipidemia, familial combined, 3 9.7 LPL APOC2
41 hyperlipoproteinemia, type iv 9.5 LPL GPIHBP1 APOC2
42 maturity-onset diabetes of the young 9.5 LPL APOC2

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

Human phenotypes related to Apolipoprotein C-Ii Deficiency:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 hepatomegaly 31 HP:0002240
3 hypertriglyceridemia 31 HP:0002155
4 pancreatitis 31 HP:0001733
5 eruptive xanthomas 31 HP:0001013
6 lipemia retinalis 31 HP:0000660

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Spleen:
splenomegaly

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

Skin Nails Hair Skin:
eruptive xanthomas

Abdomen Liver:
hepatomegaly

Abdomen Pancreas:
pancreatitis

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

Clinical features from OMIM®:

207750 (Updated 20-May-2021)

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

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

40
Heart

Publications for Apolipoprotein C-Ii Deficiency

Articles related to Apolipoprotein C-Ii Deficiency:

(show top 50) (show all 58)
# Title Authors PMID Year
1
Apolipoprotein C-II deficiency presenting as a lipid encephalopathy in infancy. 6 57 61
12783430 2003
2
A nonsense mutation in the apolipoprotein C-IIPadova gene in a patient with apolipoprotein C-II deficiency. 61 57 6
2477392 1989
3
Apolipoprotein C-II deficiency syndrome. Clinical features, lipoprotein characterization, lipase activity, and correction of hypertriglyceridemia after apolipoprotein C-II administration in two affected patients. 61 6 57
3944267 1986
4
Inheritance of apolipoprotein C-II deficiency with hypertriglyceridemia and pancreatitis. 61 6 57
213719 1978
5
A deletion of one nucleotide results in functional deficiency of apolipoprotein CII (apo CII Toronto). 6 57
3225819 1988
6
Structure of apolipoprotein C-IIToronto, a nonfunctional human apolipoprotein. 6 57
3467353 1987
7
Apolipoprotein C-II deficiency syndrome due to apo C-IIHamburg: clinical and biochemical features and HphI restriction enzyme polymorphism. 61 6
1349286 1992
8
A neonatal case of apolipoprotein C-II deficiency. 57 61
2501098 1989
9
Apolipoprotein C-II deficiency: detection of immunoreactive apolipoprotein C-II in the intestinal mucosa of two patients. 61 57
3171393 1988
10
C-II anapolipoproteinemia and severe hypertriglyceridemia. Report of a rare case with absence of C-II apolipoprotein isoforms and review of the literature. 57 61
6475985 1984
11
Familial type I hyperlipoproteinemia caused by apolipoprotein C-II deficiency. 61 57
227429 1979
12
Excess of rare variants in non-genome-wide association study candidate genes in patients with hypertriglyceridemia. 57
22135386 2012
13
Apolipoprotein CII-Padova (Tyr37-->stop) as a cause of chylomicronaemia in an Italian kindred from Siculiana. 6
7815420 1994
14
A missense mutation (Trp 26-->Arg) in exon 3 of the apolipoprotein CII gene in a patient with apolipoprotein CII deficiency (apo CII-Wakayama). 6
8323539 1993
15
Molecular cloning and characteristics of a new apolipoprotein C-II mutant identified in three unrelated individuals with hypercholesterolemia and hypertriglyceridemia. 6
8490626 1993
16
An apolipoprotein CII mutation, CIILys19----Thr' identified in patients with hyperlipidemia. 6
1782747 1991
17
Identification of the mutation responsible for a case of plasmatic apolipoprotein CII deficiency (Apo CII-Bari). 6
1971748 1990
18
An initiation codon mutation in the apoC-II gene (apoC-II Paris) of a patient with a deficiency of apolipoprotein C-II. 6
2592354 1989
19
A deletion mutation in the ApoC-II gene (ApoC-II Nijmegen) of a patient with a deficiency of apolipoprotein C-II. 6
3192518 1988
20
Donor splice site mutation in the apolipoprotein (Apo) C-II gene (Apo C-IIHamburg) of a patient with Apo C-II deficiency. 6
3263393 1988
21
Apolipoprotein CIISt. Michael. Familial apolipoprotein CII deficiency associated with premature vascular disease. 6
3680515 1987
22
A variant primary structure of apolipoprotein C-II in individuals of African descent. 6
3944271 1986
23
Familial apolipoprotein CII deficiency: a preliminary analysis of the gene defect in two independent families. 57
6547689 1984
24
Combined deficiency of apolipoprotein C-II and lipoprotein lipase in familial hyperchylomicronemia. 57
7266379 1981
25
New case of apoprotein C-II deficiency. 57
6101731 1980
26
Hypertriglyceridemia associated with deficiency of apolipoprotein C-II. 57
565877 1978
27
Successful management of acute pancreatitis due to apolipoprotein C-II deficiency in a 37-day-old infant. 61
32205061 2020
28
A Novel APOC2 Missense Mutation Causing Apolipoprotein C-II Deficiency With Severe Triglyceridemia and Pancreatitis. 61
28201738 2017
29
Apolipoprotein C-II Tuzla: a novel large deletion in APOC2 caused by Alu-Alu homologous recombination in an infant with apolipoprotein C-II deficiency. 61
25172036 2015
30
Cognitive impairment and polidistrectual atherosclerotic disease in chylomicronemia syndrome: a case report. 61
23871465 2013
31
[Primary hyperchylomicronemia]. 61
24205717 2013
32
Apolipoprotein C-II deficiency with no rare variant in the APOC2 gene. 61
23470567 2013
33
Familial chylomicronemia in a nine months old infant. 61
18940129 2008
34
[Apolipoprotein C-II deficiency]. 61
17824046 2007
35
Familial chylomicronemia syndrome. 61
17542893 2007
36
Diacylglycerol oil for apolipoprotein C-II deficiency. 61
17434913 2007
37
Severe, gestational, non-familial, non-genetic hypertriglyceridemia. 61
17441893 2007
38
A case of apolipoprotein C-II deficiency with coronary artery disease. 61
12049186 2002
39
[Chylomicronemia syndrome]. 61
11905095 2002
40
[Apolipoprotein C-II deficiency]. 61
11347072 2001
41
Acute and chronic pancreatitis in patients with inborn errors of metabolism. 61
12120223 2001
42
A thymidine to cytosine substitution for codon 26 of exon 3 of apolipoprotein C-II gene in a patient with apolipoprotein C-II deficiency. 61
10225669 1999
43
[Apolipoprotein C-II deficiency]. 61
9645006 1998
44
[Apolipoprotein C-II deficiency]. 61
7853717 1994
45
Lipoprotein composition in the insulin-deficient non-acidotic phase of type I diabetic patients and early evolution after the start of insulin therapy. 61
8143357 1993
46
Heterozygous apolipoprotein C-II deficiency: lipoprotein and apoprotein phenotype and RsaI restriction enzyme polymorphism in the Apo C-IIPadova kindred. 61
7902280 1993
47
No severe bottleneck during human evolution: evidence from two apolipoprotein C-II deficiency alleles. 61
1990844 1991
48
Apolipoprotein C-II deficiency: identification of a structural variant ApoC-II Padova. 61
3395348 1988
49
Severe hypertriglyceridemia, large lipoproteins and protection against atherosclerosis. 61
3474772 1987
50
Quantitative determination of apolipoprotein A-I in high-density lipoproteins and 'free' apolipoprotein A-I by two-dimensional agarose gel lipoprotein-'rocket' immunoelectrophoresis of human serum. 61
3094583 1986

Variations for Apolipoprotein C-Ii Deficiency

ClinVar genetic disease variations for Apolipoprotein C-Ii Deficiency:

6 (show all 46)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.1A>G (p.Met1Val) SNV Pathogenic 2579 rs120074112 GRCh37: 19:45451736-45451736
GRCh38: 19:44948479-44948479
2 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.177C>G (p.Tyr59Ter) SNV Pathogenic 2580 rs120074111 GRCh37: 19:45452079-45452079
GRCh38: 19:44948822-44948822
3 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.177C>G (p.Tyr59Ter) SNV Pathogenic 2580 rs120074111 GRCh37: 19:45452079-45452079
GRCh38: 19:44948822-44948822
4 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.122A>C (p.Lys41Thr) SNV Pathogenic 2581 rs120074114 GRCh37: 19:45452024-45452024
GRCh38: 19:44948767-44948767
5 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.178G>A (p.Glu60Lys) SNV Pathogenic 2582 rs5122 GRCh37: 19:45452080-45452080
GRCh38: 19:44948823-44948823
6 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.142T>C (p.Trp48Arg) SNV Pathogenic 2583 rs120074115 GRCh37: 19:45452044-45452044
GRCh38: 19:44948787-44948787
7 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.142T>C (p.Trp48Arg) SNV Pathogenic 2583 rs120074115 GRCh37: 19:45452044-45452044
GRCh38: 19:44948787-44948787
8 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.255C>A (p.Tyr85Ter) SNV Pathogenic 2584 rs120074116 GRCh37: 19:45452455-45452455
GRCh38: 19:44949198-44949198
9 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.255C>A (p.Tyr85Ter) SNV Pathogenic 2584 rs120074116 GRCh37: 19:45452455-45452455
GRCh38: 19:44949198-44949198
10 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.189C>A (p.Tyr63Ter) SNV Pathogenic 634436 rs754423238 GRCh37: 19:45452091-45452091
GRCh38: 19:44948834-44948834
11 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.55+1G>C SNV Pathogenic 2577 rs111628497 GRCh37: 19:45451791-45451791
GRCh38: 19:44948534-44948534
12 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.55+1G>C SNV Pathogenic 2577 rs111628497 GRCh37: 19:45451791-45451791
GRCh38: 19:44948534-44948534
13 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.229A>C (p.Lys77Gln) SNV Pathogenic 2573 rs5126 GRCh37: 19:45452429-45452429
GRCh38: 19:44949172-44949172
14 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.1A>G (p.Met1Val) SNV Pathogenic 2579 rs120074112 GRCh37: 19:45451736-45451736
GRCh38: 19:44948479-44948479
15 APOC2 APOC2, 1-BP DEL, 2943G Deletion Pathogenic 2578 GRCh37:
GRCh38:
16 APOC2 APOC2, 1-BP DEL, 2943G Deletion Pathogenic 2578 GRCh37:
GRCh38:
17 APOC2 APOC2, 1-BP DEL Deletion Pathogenic 2576 GRCh37:
GRCh38:
18 APOC2 APOC2, 1-BP DEL Deletion Pathogenic 2576 GRCh37:
GRCh38:
19 APOC2 APOC2, 1-BP INS Insertion Pathogenic 2575 GRCh37:
GRCh38:
20 APOC2 APOC2, 1-BP INS Insertion Pathogenic 2575 GRCh37:
GRCh38:
21 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.177C>A (p.Tyr59Ter) SNV Pathogenic 2574 rs120074111 GRCh37: 19:45452079-45452079
GRCh38: 19:44948822-44948822
22 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.177C>A (p.Tyr59Ter) SNV Pathogenic 2574 rs120074111 GRCh37: 19:45452079-45452079
GRCh38: 19:44948822-44948822
23 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.*77C>A SNV Uncertain significance 894638 GRCh37: 19:45452583-45452583
GRCh38: 19:44949326-44949326
24 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.195C>A (p.Pro65=) SNV Uncertain significance 894637 GRCh37: 19:45452097-45452097
GRCh38: 19:44948840-44948840
25 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.178G>A (p.Glu60Lys) SNV Uncertain significance 2582 rs5122 GRCh37: 19:45452080-45452080
GRCh38: 19:44948823-44948823
26 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.*24C>T SNV Uncertain significance 329456 rs780350789 GRCh37: 19:45452530-45452530
GRCh38: 19:44949273-44949273
27 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.*174T>C SNV Uncertain significance 329459 rs886054486 GRCh37: 19:45452680-45452680
GRCh38: 19:44949423-44949423
28 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.-38G>C SNV Uncertain significance 894239 GRCh37: 19:45449308-45449308
GRCh38: 19:44946051-44946051
29 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.-18G>A SNV Uncertain significance 894240 GRCh37: 19:45449328-45449328
GRCh38: 19:44946071-44946071
30 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.56-11T>C SNV Uncertain significance 894241 GRCh37: 19:45451947-45451947
GRCh38: 19:44948690-44948690
31 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.85G>A (p.Asp29Asn) SNV Uncertain significance 894242 GRCh37: 19:45451987-45451987
GRCh38: 19:44948730-44948730
32 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.*203G>A SNV Uncertain significance 329461 rs886054487 GRCh37: 19:45452709-45452709
GRCh38: 19:44949452-44949452
33 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.*308dup Duplication Uncertain significance 329464 rs199828513 GRCh37: 19:45452813-45452814
GRCh38: 19:44949556-44949557
34 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.301G>A (p.Glu101Lys) SNV Uncertain significance 329455 rs886054485 GRCh37: 19:45452501-45452501
GRCh38: 19:44949244-44949244
35 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.102G>A (p.Pro34=) SNV Uncertain significance 329454 rs199658000 GRCh37: 19:45452004-45452004
GRCh38: 19:44948747-44948747
36 APOC2 , APOC4-APOC2 NM_000483.4(APOC2):c.-45C>T SNV Uncertain significance 329452 rs886054484 GRCh37: 19:45449301-45449301
GRCh38: 19:44946044-44946044
37 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.*116T>C SNV Likely benign 329458 rs537917972 GRCh37: 19:45452622-45452622
GRCh38: 19:44949365-44949365
38 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.*236C>T SNV Likely benign 329462 rs142212854 GRCh37: 19:45452742-45452742
GRCh38: 19:44949485-44949485
39 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.-2C>T SNV Benign 329453 rs5121 GRCh37: 19:45451734-45451734
GRCh38: 19:44948477-44948477
40 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.*188_*189insT Insertion Benign 329460 rs150448996 GRCh37: 19:45452694-45452695
GRCh38: 19:44949437-44949438
41 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.*306C>T SNV Benign 329463 rs1130742 GRCh37: 19:45452812-45452812
GRCh38: 19:44949555-44949555
42 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.229A>C (p.Lys77Gln) SNV Benign 2573 rs5126 GRCh37: 19:45452429-45452429
GRCh38: 19:44949172-44949172
43 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.56-4G>C SNV Benign 782056 rs74500990 GRCh37: 19:45451954-45451954
GRCh38: 19:44948697-44948697
44 APOC2 , APOC4-APOC2 NM_000483.4(APOC2):c.-62T>G SNV Benign 329451 rs2288911 GRCh37: 19:45449284-45449284
GRCh38: 19:44946027-44946027
45 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.122A>C (p.Lys41Thr) SNV Benign 2581 rs120074114 GRCh37: 19:45452024-45452024
GRCh38: 19:44948767-44948767
46 APOC4-APOC2 , APOC2 NM_000483.5(APOC2):c.*90C>T SNV Benign 329457 rs7253690 GRCh37: 19:45452596-45452596
GRCh38: 19:44949339-44949339

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

72
# Symbol AA change Variation ID SNP ID
1 APOC2 p.Trp48Arg VAR_000640 rs120074115

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 LPL GPIHBP1 APOC2
2
Show member pathways
11.67 LPL GPIHBP1 APOC2
3
Show member pathways
11.33 LPL APOC2
4
Show member pathways
11.13 LPL GPIHBP1 APOC2

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 9.62 LPL GPIHBP1 APOC4-APOC2 APOC2
2 high-density lipoprotein particle GO:0034364 9.26 APOC4-APOC2 APOC2
3 low-density lipoprotein particle GO:0034362 9.16 APOC4-APOC2 APOC2
4 very-low-density lipoprotein particle GO:0034361 9.13 LPL APOC4-APOC2 APOC2
5 chylomicron GO:0042627 8.8 LPL APOC4-APOC2 APOC2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.61 LPL APOC4-APOC2 APOC2
2 regulation of catalytic activity GO:0050790 9.49 APOC4-APOC2 APOC2
3 lipid transport GO:0006869 9.48 APOC4-APOC2 APOC2
4 lipid catabolic process GO:0016042 9.46 LPL APOC2
5 cholesterol homeostasis GO:0042632 9.43 LPL GPIHBP1 APOC2
6 positive regulation of lipoprotein lipase activity GO:0051006 9.4 GPIHBP1 APOC2
7 regulation of lipoprotein lipase activity GO:0051004 9.37 LPL GPIHBP1
8 retinoid metabolic process GO:0001523 9.33 LPL GPIHBP1 APOC2
9 very-low-density lipoprotein particle remodeling GO:0034372 9.32 LPL APOC2
10 triglyceride homeostasis GO:0070328 9.13 LPL GPIHBP1 APOC2
11 chylomicron remodeling GO:0034371 8.8 LPL GPIHBP1 APOC2

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

# Name GO ID Score Top Affiliating Genes
1 enzyme activator activity GO:0008047 8.96 APOC4-APOC2 APOC2
2 lipoprotein particle binding GO:0071813 8.62 LPL GPIHBP1

Sources for Apolipoprotein C-Ii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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