MCID: APD001
MIFTS: 20

Apo a-I Deficiency malady

Categories: Rare diseases

Aliases & Classifications for Apo a-I Deficiency

Aliases & Descriptions for Apo a-I Deficiency:

Name: Apo a-I Deficiency 50

Classifications:



Summaries for Apo a-I Deficiency

MalaCards based summary : Apo a-I Deficiency is related to arena syndrome and familial progressive cardiac conduction defect. An important gene associated with Apo a-I Deficiency is APOA1 (Apolipoprotein A1), and among its related pathways/superpathways are Lipoprotein metabolism and Statin Pathway. The drugs Nevirapine and Cholecalciferol have been mentioned in the context of this disorder.

Related Diseases for Apo a-I Deficiency

Graphical network of the top 20 diseases related to Apo a-I Deficiency:



Diseases related to Apo a-I Deficiency

Symptoms & Phenotypes for Apo a-I Deficiency

Drugs & Therapeutics for Apo a-I Deficiency

Drugs for Apo a-I Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 52)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nevirapine Approved Phase 4 129618-40-2 4463
2
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 3 67-97-0 6221 10883523 5280795
3
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3 50-14-6 5280793
4 vitamin d Phase 4,Phase 3
5 Cytochrome P-450 CYP3A Inducers Phase 4
6 Nucleic Acid Synthesis Inhibitors Phase 4
7 Trace Elements Phase 4,Phase 3
8 Ergocalciferols Phase 4,Phase 3
9 Vitamins Phase 4,Phase 3
10 Anti-HIV Agents Phase 4
11 Anti-Infective Agents Phase 4
12 Anti-Retroviral Agents Phase 4
13 Reverse Transcriptase Inhibitors Phase 4
14 Micronutrients Phase 4,Phase 3
15 Bone Density Conservation Agents Phase 4,Phase 3
16 Antiviral Agents Phase 4
17 Vitamin D2 Nutraceutical Phase 4,Phase 3
18 Calciferol Nutraceutical Phase 4,Phase 3
19 Hydroxycholecalciferols Phase 3
20 Atorvastatin Calcium Phase 1, Phase 2 134523-03-8
21 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
22 Hypolipidemic Agents Phase 1, Phase 2
23 Anticholesteremic Agents Phase 1, Phase 2
24 Lipid Regulating Agents Phase 1, Phase 2
25 Antimetabolites Phase 1, Phase 2
26 Calcium, Dietary Phase 1, Phase 2
27
Ritonavir Approved, Investigational 155213-67-5 392622
28
Lopinavir Approved 192725-17-0 92727
29
Efavirenz Approved, Investigational 154598-52-4 64139
30
Fenofibrate Approved 49562-28-9 3339
31
Ezetimibe Approved 163222-33-1 150311
32
Adenosine Approved, Investigational 58-61-7 60961
33
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
34
Nicotinamide Approved, Nutraceutical 98-92-0 936
35
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
36 insulin
37
protease inhibitors
38 HIV Protease Inhibitors
39 Cytochrome P-450 CYP2C9 Inhibitors
40 Cytochrome P-450 CYP3A Inhibitors
41 Cytochrome P-450 Enzyme Inhibitors
42 Insulin, Globin Zinc
43 Atazanavir Sulfate
44 Clofibric Acid 882-09-7
45 Rosuvastatin Calcium 147098-20-2
46 Nicotinic Acids
47 Vasodilator Agents
48 Vitamin B Complex
49 Pharmaceutical Solutions
50 Folate Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Effect of Vitamin D on Metabolic Parameters in Patients With the Metabolic Syndrome Unknown status NCT01237769 Phase 4
2 An Open-label, Non-randomized, Single-arm Study to Investigate the Mechanism(s) by Which Nevirapine Increases Plasma HDL in HIV+ Subjects Completed NCT00144261 Phase 4
3 The Effect of Vitamin D Supplementation on Cardiovascular Risk Factors Recruiting NCT02750293 Phase 3
4 IMPAACT P1063: Safety and Effectiveness of Atorvastatin in HIV Infected Children and Adolescents With Hyperlipidemia Terminated NCT00663234 Phase 1, Phase 2
5 HIV Antiretroviral Drugs and Metabolism Unknown status NCT00525239
6 Apolipoprotein A-I Gene Polymorphism and Atherosclerosis Completed NCT00005183
7 High-Density Lipoprotein (HDL) Treatment Study Completed NCT00458055
8 Addition of Ezetimibe (Ezetrol®) to Ongoing Therapy With Rosuvastatin (Crestor®) in HIV Positive Patients Not Reaching Cholesterol Targets Completed NCT00908011
9 Mendelian Reverse Cholesterol Transport Study Active, not recruiting NCT01782027

Search NIH Clinical Center for Apo a-I Deficiency

Genetic Tests for Apo a-I Deficiency

Anatomical Context for Apo a-I Deficiency

Publications for Apo a-I Deficiency

Articles related to Apo a-I Deficiency:

id Title Authors Year
1
Lipid-free apolipoprotein (apo) A-I is converted into alpha-migrating high density lipoproteins by lipoprotein-depleted plasma of normolipidemic donors and apo A-I-deficient patients but not of Tangier disease patients. ( 9678768 )
1998
2
A novel homozygous missense mutation in the apo A-I gene with apo A-I deficiency. ( 9514407 )
1998

Variations for Apo a-I Deficiency

Expression for Apo a-I Deficiency

Search GEO for disease gene expression data for Apo a-I Deficiency.

Pathways for Apo a-I Deficiency

GO Terms for Apo a-I Deficiency

Cellular components related to Apo a-I Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 high-density lipoprotein particle GO:0034364 8.62 APOA1 LCAT

Biological processes related to Apo a-I Deficiency according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.49 APOA1 LCAT
2 steroid metabolic process GO:0008202 9.48 APOA1 LCAT
3 cholesterol metabolic process GO:0008203 9.46 APOA1 LCAT
4 phospholipid metabolic process GO:0006644 9.43 APOA1 LCAT
5 cholesterol homeostasis GO:0042632 9.4 APOA1 LCAT
6 lipoprotein metabolic process GO:0042157 9.37 APOA1 LCAT
7 phosphatidylcholine biosynthetic process GO:0006656 9.32 APOA1 LCAT
8 cholesterol transport GO:0030301 9.26 APOA1 LCAT
9 reverse cholesterol transport GO:0043691 9.16 APOA1 LCAT
10 high-density lipoprotein particle remodeling GO:0034375 8.96 APOA1 LCAT
11 lipoprotein biosynthetic process GO:0042158 8.62 APOA1 LCAT

Sources for Apo a-I 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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