MCID: FML285
MIFTS: 29

Familial Apolipoprotein C-Ii Deficiency

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Familial Apolipoprotein C-Ii Deficiency

MalaCards integrated aliases for Familial Apolipoprotein C-Ii Deficiency:

Name: Familial Apolipoprotein C-Ii Deficiency 12 15
Hyperlipoproteinemia, Type Ib 12
Hyperlipoproteinemia, Type 1b 12
Familial Apoc-Ii Deficiency 12
Hyperlipoproteinemia Type I 43
C-Ii Anapolipoproteinemia 12
Familial Apoc2 Deficiency 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111418
MeSH 43 D008072
SNOMED-CT 67 33513003
UMLS 71 C0268199 C1720779

Summaries for Familial Apolipoprotein C-Ii Deficiency

Disease Ontology : 12 A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has material basis in homozygous or compound heterozygous mutation in APOC2 on chromosome 19q13.32.

MalaCards based summary : Familial Apolipoprotein C-Ii Deficiency, also known as hyperlipoproteinemia, type ib, is related to apolipoprotein c-ii deficiency and familial lipoprotein lipase deficiency. An important gene associated with Familial Apolipoprotein C-Ii Deficiency is APOC2 (Apolipoprotein C2), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Metabolism of fat-soluble vitamins. The drugs Prednisolone phosphate and Methylprednisolone have been mentioned in the context of this disorder.

Related Diseases for Familial Apolipoprotein C-Ii Deficiency

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



Diseases related to Familial Apolipoprotein C-Ii Deficiency

Symptoms & Phenotypes for Familial Apolipoprotein C-Ii Deficiency

Drugs & Therapeutics for Familial Apolipoprotein C-Ii Deficiency

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

(show all 38)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
2
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
3
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
4
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
5
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
6
Mycophenolic acid Approved Phase 2, Phase 3 24280-93-1 446541
7
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
8 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
9
Fosamprenavir Approved Phase 3 226700-79-4 131536
10
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
11 Hormones Phase 2, Phase 3
12 Antineoplastic Agents, Hormonal Phase 2, Phase 3
13 Methylprednisolone Acetate Phase 2, Phase 3
14 Anti-Infective Agents Phase 2, Phase 3
15 Antitubercular Agents Phase 2, Phase 3
16 Dermatologic Agents Phase 2, Phase 3
17 Immunosuppressive Agents Phase 2, Phase 3
18 Antifungal Agents Phase 2, Phase 3
19 Hormone Antagonists Phase 2, Phase 3
20 Anti-Bacterial Agents Phase 2, Phase 3
21 Cyclosporins Phase 2, Phase 3
22 glucocorticoids Phase 2, Phase 3
23 Immunologic Factors Phase 2, Phase 3
24 Calcineurin Inhibitors Phase 2, Phase 3
25 Antibiotics, Antitubercular Phase 2, Phase 3
26 Antirheumatic Agents Phase 2, Phase 3
27 Anti-Inflammatory Agents Phase 2, Phase 3
28 Gastrointestinal Agents Phase 2, Phase 3
29 Antiemetics Phase 2, Phase 3
30 Neuroprotective Agents Phase 2, Phase 3
31 Protective Agents Phase 2, Phase 3
32
Orlistat Approved, Investigational Phase 2 96829-58-2 3034010
33 Anti-Obesity Agents Phase 2
34 Lipid Regulating Agents Phase 2
35
Heparin Approved, Investigational 9005-49-6 46507594 772
36 Fibrinolytic Agents
37 Anticoagulants
38 calcium heparin

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 A Study to Determine the Safety and Efficacy in Lipoprotein Lipase-Deficient Subjects After Intramuscular Administration of AMT-011, an Adeno-Associated Viral Vector Expressing Human Lipoprotein LipaseS447X Unknown status NCT01109498 Phase 2, Phase 3 Mycophenolate mofetil;cyclosporine
2 A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Study of ISIS 304801 Administered Subcutaneously to Patients With Familial Chylomicronemia Syndrome (FCS) Completed NCT02211209 Phase 3 Volanesorsen;Placebo
3 A Randomized, Double-blind, Placebo Controlled Study to Assess Efficacy, Safety and Tolerability of LCQ908 in Subjects With Familial Chylomicronemia Syndrome Completed NCT01514461 Phase 3 LCQ908;Placebo
4 An Open-label Study to Assess the Efficacy and Safety of Alipogene Tiparvovec (AMT-011), Human LPL [S447X], Expressed by an Adeno-Associated Viral Vector After Intramuscular Administration in LPL-deficient Adult Subjects Completed NCT00891306 Phase 2, Phase 3 mycophenolate mofetil;cyclosporine;methylprednisolone
5 ISIS 304801-CS7 The APPROACH Open Label Study Volanesorsen (ISIS 304801) An Open-Label Study of Volanesorsen Administered Subcutaneously to Patients With Familial Chylomicronemia Syndrome (FCS) Active, not recruiting NCT02658175 Phase 3 Volanesorsen
6 An Open Label, 52-week, Safety and Tolerability Extension to a Randomized, Double-blind, Placebo Controlled Study of LCQ908 in Subjects With Familial Chylomicronemia Syndrome. Terminated NCT01589237 Phase 3 LCQ908
7 A Phase 2 Open-Label Study to Assess the Pharmacodynamics, Pharmacokinetics, Safety and Tolerability of AKCEA-ANGPTL3-LRX (ISIS 703802) Administered Subcutaneously to Patients With Familial Chylomicronemia Syndrome (FCS) Completed NCT03360747 Phase 2 AKCEA-ANGPTL3-LRX
8 A Phase 2 Pilot Study to Assess the Safety and Efficacy of CAT-2003 in Patients With Chylomicronemia Completed NCT02098278 Phase 2 CAT-2003;Placebo
9 Orlistat for the Treatment of Type I Hyperlipoproteinemia Active, not recruiting NCT02767531 Phase 2 Orlistat
10 An Open Label, Multi-centre Trial of Alipogene Tiparvovec for the Treatment of LPLD Patients Withdrawn NCT02904772 Phase 2 alipogene tiparvovec;Prednisolone;Cyclosporins;Mycophenolate mofetil
11 A Phase 1 Single and Multiple Dose-Escalating Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamic Effects of ARO-APOC3 in Adult Healthy Volunteers as Well as in Severely Hypertriglyceridemic Patients and Patients With Familial Chylomicronemia Syndrome Recruiting NCT03783377 Phase 1 ARO-APOC3;sterile normal saline (0.9% NaCl)
12 A Clinical Records Review Study of the Frequency and Severity of Acute Abdominal "Pancreatitis" Episodes Reported From LPLD Subjects Previously Recruited to Clinical Studies PREPARATION-02, CT-AMT-011-01 and CT-AMT-011-02 Unknown status NCT01448577
13 Lipoprotein Lipase Enzyme Activity Assay Validation and Clinical Assessment Completed NCT02656095 Heparin
14 Medical Complications in Familial and Multifactorial Chylomicronaemia Syndromes From a 10 Year Follow-up Linking Datasets Between Patient Medical Records and Patient Claims: the ESTHYM Study Completed NCT03912181
15 InFocus France Epidemiological Study of Health Burden in Major Hypertriglyceridemia Completed NCT04223908
16 Postprandial Fatty Acid Metabolism in Subjects With Lipoprotein Lipase Deficiency Recruiting NCT04227678 Heparin
17 Glybera Registry, Long-term Safety and Efficacy Follow-up in Lipoprotein Lipase Deficient (LPLD) Patients Treated With Alipogene Tiparvovec (GLYBERA®) Active, not recruiting NCT03293810
18 BioHoFH - Biomarker for Homozygous Familial Hypercholesterolemia AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT03198897
19 Volanesorsen (ISIS 304801) Early Access Program for Patients With Familial Chylomicronemia Syndrome (FCS) Available NCT03544060 Volanesorsen
20 Prospective, Non-interventional, Non-randomised, Open-label, Adult Study to Assess the Long Term Biological Therapeutic Response to Alipogene Tiparvovec in Lipoprotein Lipase Deficiency (LPLD) and Comparing Postprandial Chylomicron Metabolism Following a Radiolabeled Meal in LPLD Subjects Previously Treated With Alipogene Tiparvovec (Studies CT-AMT-011-01 or -02) to Untreated LPLD Subjects (Study PREPARATION-02) and to Healthy Volunteers Terminated NCT01447901

Search NIH Clinical Center for Familial Apolipoprotein C-Ii Deficiency

Cochrane evidence based reviews: hyperlipoproteinemia type i

Genetic Tests for Familial Apolipoprotein C-Ii Deficiency

Anatomical Context for Familial Apolipoprotein C-Ii Deficiency

Publications for Familial Apolipoprotein C-Ii Deficiency

Articles related to Familial Apolipoprotein C-Ii Deficiency:

# Title Authors PMID Year
1
[Primary hyperchylomicronemia]. 61
24205717 2013
2
[Chylomicronemia syndrome]. 61
11905095 2002
3
Severe hypertriglyceridemia, large lipoproteins and protection against atherosclerosis. 61
3474772 1987
4
Apolipoprotein and lipoprotein concentrations in familial apolipoprotein C-II deficiency. 61
7138621 1982
5
Familial type I hyperlipoproteinemia caused by apolipoprotein C-II deficiency. 61
227429 1979

Variations for Familial Apolipoprotein C-Ii Deficiency

Expression for Familial Apolipoprotein C-Ii Deficiency

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

Pathways for Familial Apolipoprotein C-Ii Deficiency

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.06 LPL GPIHBP1 APOC3 APOC2
2
Show member pathways
11.59 LPL GPIHBP1 APOC3 APOC2
3
Show member pathways
11.56 LPL LMF1 GPIHBP1 APOC3 APOC2
4
Show member pathways
11.5 LPL APOC3 APOC2
5 11.21 LPL APOC3

GO Terms for Familial Apolipoprotein C-Ii Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 spherical high-density lipoprotein particle GO:0034366 9.26 APOC3 APOC2
2 intermediate-density lipoprotein particle GO:0034363 9.16 APOC3 APOC2
3 very-low-density lipoprotein particle GO:0034361 9.13 LPL APOC3 APOC2
4 chylomicron GO:0042627 8.8 LPL APOC3 APOC2

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.77 LPL APOC3 APOC2
2 cholesterol homeostasis GO:0042632 9.71 LPL GPIHBP1 APOC3 APOC2
3 lipid catabolic process GO:0016042 9.7 LPL APOC3 APOC2
4 triglyceride metabolic process GO:0006641 9.61 LPL LMF1 APOC3
5 lipid transport GO:0006869 9.6 APOC3 APOC2
6 triglyceride catabolic process GO:0019433 9.58 LPL APOC3
7 cholesterol efflux GO:0033344 9.58 APOC3 APOC2
8 reverse cholesterol transport GO:0043691 9.57 APOC3 APOC2
9 high-density lipoprotein particle remodeling GO:0034375 9.56 APOC3 APOC2
10 phospholipid efflux GO:0033700 9.55 APOC3 APOC2
11 chylomicron assembly GO:0034378 9.54 APOC3 APOC2
12 positive regulation of lipoprotein lipase activity GO:0051006 9.54 LMF1 GPIHBP1 APOC2
13 very-low-density lipoprotein particle remodeling GO:0034372 9.51 LPL APOC2
14 regulation of lipoprotein lipase activity GO:0051004 9.5 LPL LMF1 GPIHBP1
15 negative regulation of receptor-mediated endocytosis GO:0048261 9.49 APOC3 APOC2
16 negative regulation of lipid metabolic process GO:0045833 9.48 APOC3 APOC2
17 negative regulation of very-low-density lipoprotein particle clearance GO:0010916 9.46 APOC3 APOC2
18 retinoid metabolic process GO:0001523 9.46 LPL GPIHBP1 APOC3 APOC2
19 chylomicron remnant clearance GO:0034382 9.43 LMF1 APOC3 APOC2
20 triglyceride homeostasis GO:0070328 9.26 LPL GPIHBP1 APOC3 APOC2
21 chylomicron remodeling GO:0034371 8.92 LPL GPIHBP1 APOC3 APOC2

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

# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.33 GPIHBP1 APOC3 APOC2
2 lipoprotein particle binding GO:0071813 8.96 LPL GPIHBP1
3 lipase inhibitor activity GO:0055102 8.62 APOC3 APOC2

Sources for Familial Apolipoprotein C-Ii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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