MCID: APD001
MIFTS: 20

Apo a-I Deficiency

Categories: Rare diseases

Aliases & Classifications for Apo a-I Deficiency

MalaCards integrated aliases 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 aquagenic syringeal acrokeratoderm and familial osteochondritis dissecans. 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. Affiliated tissues include bone.

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 53)
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 Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 1406-16-2
5 Bone Density Conservation Agents Phase 4,Phase 3
6 Ergocalciferols Phase 4,Phase 3
7 Micronutrients Phase 4,Phase 3
8 Trace Elements 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 Antiviral Agents Phase 4
14 Cytochrome P-450 CYP3A Inducers Phase 4
15 Nucleic Acid Synthesis Inhibitors Phase 4
16 Reverse Transcriptase Inhibitors Phase 4
17 Calciferol Nutraceutical Phase 4,Phase 3
18 Vitamin D2 Nutraceutical Phase 4,Phase 3
19 Calcifediol Phase 3 19356-17-3
20 Hydroxycholecalciferols Phase 3
21
Efavirenz Approved, Investigational 154598-52-4 64139
22
Lopinavir Approved 192725-17-0 92727
23
Ritonavir Approved, Investigational 155213-67-5 392622
24
Fenofibrate Approved 49562-28-9 3339
25
Ezetimibe Approved 163222-33-1 150311
26
Adenosine Approved, Investigational 58-61-7 60961
27
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
28
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
29
Nicotinamide Approved, Nutraceutical 98-92-0 936
30 Atazanavir Sulfate
31 Cytochrome P-450 CYP2C9 Inhibitors
32 Cytochrome P-450 CYP3A Inhibitors
33 Cytochrome P-450 Enzyme Inhibitors
34 HIV Protease Inhibitors
35 insulin
36 Insulin, Globin Zinc
37
protease inhibitors
38 Anticholesteremic Agents
39 Antimetabolites
40 Atorvastatin Calcium 134523-03-8
41 Calcium, Dietary
42 Clofibric Acid 882-09-7
43 Hydroxymethylglutaryl-CoA Reductase Inhibitors
44 Hypolipidemic Agents
45 Lipid Regulating Agents
46 Nicotinic Acids
47 Vasodilator Agents
48 Vitamin B Complex
49 Rosuvastatin Calcium 147098-20-2
50 Pharmaceutical Solutions

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
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 nevirapine
3 The Effect of Vitamin D Supplementation on Cardiovascular Risk Factors Completed NCT02750293 Phase 3 Cholecalciferol;Placebo
4 HIV Antiretroviral Drugs and Metabolism Unknown status NCT00525239 ritonavir, lopinavir/ritonavir, atazanavir/ritonavir, efavirenz
5 Apolipoprotein A-I Gene Polymorphism and Atherosclerosis Completed NCT00005183
6 High-Density Lipoprotein (HDL) Treatment Study Completed NCT00458055 Atorvastatin; Fenofibrate; Niacin
7 Addition of Ezetimibe (Ezetrol®) to Ongoing Therapy With Rosuvastatin (Crestor®) in HIV Positive Patients Not Reaching Cholesterol Targets Completed NCT00908011 Ezetimibe;Rosuvastatin (standard care)
8 Mendelian Reverse Cholesterol Transport Study Suspended NCT01782027 3H-cholesterol bound to albumin

Search NIH Clinical Center for Apo a-I Deficiency

Genetic Tests for Apo a-I Deficiency

Anatomical Context for Apo a-I Deficiency

MalaCards organs/tissues related to Apo a-I Deficiency:

39
Bone

Publications for Apo a-I Deficiency

Articles related to Apo a-I Deficiency:

id Title Authors Year
1
A novel homozygous missense mutation in the apo A-I gene with apo A-I deficiency. ( 9514407 )
1998
2
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

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:

id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.48 APOA1 LCAT
2 steroid metabolic process GO:0008202 9.46 APOA1 LCAT
3 cholesterol metabolic process GO:0008203 9.43 APOA1 LCAT
4 phospholipid metabolic process GO:0006644 9.4 APOA1 LCAT
5 cholesterol homeostasis GO:0042632 9.37 APOA1 LCAT
6 phosphatidylcholine biosynthetic process GO:0006656 9.32 APOA1 LCAT
7 cholesterol transport GO:0030301 9.26 APOA1 LCAT
8 reverse cholesterol transport GO:0043691 9.16 APOA1 LCAT
9 high-density lipoprotein particle remodeling GO:0034375 8.96 APOA1 LCAT
10 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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