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HA2
MCID: HYP843
MIFTS: 52

Hypoalphalipoproteinemia, Primary, 2 (HA2)

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hypoalphalipoproteinemia, Primary, 2

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MalaCards integrated aliases for Hypoalphalipoproteinemia, Primary, 2:

Name: Hypoalphalipoproteinemia, Primary, 2 56 73 6
Apolipoprotein a-I Deficiency 56 58 6
Hypoalphalipoproteinemia, Primary, 2, with or Without Corneal Clouding 56 73
Apoa-I and Apoc-Iii Deficiency, Combined 56
High Density Lipoprotein Deficiency 56
Familial Hypoalphalipoproteinemia 58
Familial Apoa-I Deficiency 58
Hypoalphalipoproteinemias 43
Apolipoprotein a-I 6
Apoa-I Deficiency 58
Ha2 73

Characteristics:

Orphanet epidemiological data:

58
apolipoprotein a-i deficiency
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide),<1/1000000 (Europe); Age of onset: All ages; Age of death: any age;

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Endocrine diseases Cardiovascular diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Inborn errors of metabolism
Rare endocrine diseases


External Ids:

OMIM 56 618463
MeSH 43 D052456
MESH via Orphanet 44 D052456
ICD10 via Orphanet 33 E78.6
UMLS via Orphanet 72 C0342898 C1704429
Orphanet 58 ORPHA425
MedGen 41 CN262194
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Summaries for Hypoalphalipoproteinemia, Primary, 2

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OMIM : 56 Primary hypoalphalipoproteinemia-2 characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol (HDL-C), is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities (summary by Tanaka et al., 2018). Primary hypoalphalipoproteinemia-2 characterized by half the normal plasma apoA-I and HDL-C levels is inherited as an autosomal dominant trait (Yamakawa-Kobayashi et al., 1999). Heterozygous individuals may develop xanthomas and corneal opacities, but most do not have increased cardiovascular risk (Rader and deGoma, 2012). For a discussion of genetic heterogeneity of primary hypoalphalipoproteinemia, see 604091. (618463)

MalaCards based summary : Hypoalphalipoproteinemia, Primary, 2, also known as apolipoprotein a-i deficiency, is related to tangier disease and hypoalphalipoproteinemia. An important gene associated with Hypoalphalipoproteinemia, Primary, 2 is APOA1 (Apolipoprotein A1), and among its related pathways/superpathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Lipoprotein metabolism. The drugs Nicotinamide and Propofol have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and lung, and related phenotypes are splenomegaly and corneal opacity

UniProtKB/Swiss-Prot : 73 Hypoalphalipoproteinemia, primary, 2: A rare disorder of lipoprotein metabolism, biochemically characterized by complete or partial apoA-I deficiency and mild to severe reduction of serum high-density lipoprotein cholesterol (HDL-C). Severe hypoalphalipoproteinemia characterized by undetectable levels of apoA- I is an autosomal recessive condition, generally associated with markedly increased atherosclerotic cardiovascular disease, xanthomas and corneal opacities. Mild hypoalphalipoproteinemia characterized by half the normal plasma apoA-I and HDL-C levels is inherited as an autosomal dominant trait, may be associated with xanthomas and corneal opacities, but most patients do not have increased cardiovascular risk.

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Related Diseases for Hypoalphalipoproteinemia, Primary, 2

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Diseases in the Hypoalphalipoproteinemia family:

Hypoalphalipoproteinemia, Primary, 1 Hypoalphalipoproteinemia, Primary, 2

Diseases related to Hypoalphalipoproteinemia, Primary, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 329)
# Related Disease Score Top Affiliating Genes
1 tangier disease 33.5 APOA1 ABCA1
2 hypoalphalipoproteinemia 32.2 APOA1 ABCA1
3 familial hypercholesterolemia 30.0 APOA1 ABCA1
4 coronary heart disease 1 29.8 APOA1 ABCA1
5 vascular disease 29.8 APOA1 ABCA1
6 hypolipoproteinemia 29.7 APOA1 ABCA1
7 atherosclerosis susceptibility 29.7 APOA1 ABCA1
8 huntington disease-like 1 29.7 APOA1 ABCA1
9 aortic atherosclerosis 29.7 APOA1 ABCA1
10 familial hyperlipidemia 29.6 APOA1 ABCA1
11 cardiovascular system disease 29.6 APOA1 ABCA1
12 lipid metabolism disorder 29.5 APOA1 ABCA1
13 homozygous familial hypercholesterolemia 29.4 APOA1 ABCA1
14 cerebrovascular disease 29.2 APOA1 ABCA1
15 hypoalphalipoproteinemia, primary, 1 12.6
16 aapoai amyloidosis 12.2
17 amyloidosis, familial visceral 11.6
18 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 11.5
19 neuroblastoma 11.1
20 influenza 10.8
21 avian influenza 10.6
22 vaccinia 10.4
23 hereditary amyloidosis 10.4
24 liver disease 10.3
25 diabetes mellitus, noninsulin-dependent 10.3
26 proteasome-associated autoinflammatory syndrome 1 10.3
27 fish-eye disease 10.3
28 eye disease 10.3
29 cholera 10.3
30 periodontitis 10.3
31 hepatoblastoma 10.3
32 rapidly involuting congenital hemangioma 10.3
33 hypertriglyceridemia, familial 10.3
34 acute myocardial infarction 10.3
35 rheumatoid arthritis 10.2
36 ischemia 10.2
37 48,xyyy 10.2
38 body mass index quantitative trait locus 11 10.2
39 homocysteinemia 10.2
40 papillomatosis, confluent and reticulated 10.2
41 diabetes mellitus, type i 10.2
42 nephrotic syndrome 10.2
43 cholestasis 10.2
44 hypothyroidism 10.2
45 hypogonadism 10.2
46 pulmonary fibrosis 10.2
47 kidney disease 10.2
48 chronic kidney disease 10.2
49 hyperthyroidism 10.2
50 peripheral nervous system disease 10.2

Graphical network of the top 20 diseases related to Hypoalphalipoproteinemia, Primary, 2:



Diseases related to Hypoalphalipoproteinemia, Primary, 2
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Symptoms & Phenotypes for Hypoalphalipoproteinemia, Primary, 2

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Human phenotypes related to Hypoalphalipoproteinemia, Primary, 2:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
2 corneal opacity 58 31 frequent (33%) Frequent (79-30%) HP:0007957
3 emg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0003457
4 hemiplegia/hemiparesis 58 31 frequent (33%) Frequent (79-30%) HP:0004374
5 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
6 abnormality of the liver 58 31 frequent (33%) Frequent (79-30%) HP:0001392
7 decreased hdl cholesterol concentration 58 31 frequent (33%) Frequent (79-30%) HP:0003233
8 lymphadenopathy 58 31 frequent (33%) Frequent (79-30%) HP:0002716
9 xanthomatosis 58 31 frequent (33%) Frequent (79-30%) HP:0000991
10 blurred vision 58 31 frequent (33%) Frequent (79-30%) HP:0000622

Clinical features from OMIM:

618463

GenomeRNAi Phenotypes related to Hypoalphalipoproteinemia, Primary, 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.32 ABCA1
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Drugs & Therapeutics for Hypoalphalipoproteinemia, Primary, 2

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Drugs for Hypoalphalipoproteinemia, Primary, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 65)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
2
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
3
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
4
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
5
Simvastatin Approved Phase 4 79902-63-9 54454
6
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
7
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
8 Vitamins Phase 4
9 Micronutrients Phase 4
10 Vitamin B Complex Phase 4
11 Hypolipidemic Agents Phase 4
12 Vitamin B3 Phase 4
13 Nicotinic Acids Phase 4
14 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
15 Lipid Regulating Agents Phase 4
16 Anticholesteremic Agents Phase 4
17 Vasodilator Agents Phase 4
18 Folate Phase 4
19 Nutrients Phase 4
20 Trace Elements Phase 4
21 Vitamin B9 Phase 4
22 Antimetabolites Phase 4
23 Fat Emulsions, Intravenous Phase 4
24 Hypnotics and Sedatives Phase 4
25 Soybean oil, phospholipid emulsion Phase 4
26 Soy Bean Phase 4
27 Parenteral Nutrition Solutions Phase 4
28 Anesthetics, General Phase 4
29 Anesthetics Phase 4
30 Anesthetics, Intravenous Phase 4
31 Rosuvastatin Calcium Phase 3 147098-20-2
32 Calcium, Dietary Phase 3
33 Pharmaceutical Solutions Phase 3
34
Calcium Nutraceutical Phase 3 7440-70-2 271
35
Curcumin Approved, Experimental, Investigational Phase 2 458-37-7 969516
36
Atorvastatin Approved Phase 2 134523-00-5 60823
37
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244
38
Resveratrol Investigational Phase 2 501-36-0 445154
39
Quercetin Experimental, Investigational Phase 2 117-39-5 5280343
40
3,5-diiodothyropropionic acid Investigational Phase 1, Phase 2 1158-10-7
41 Analgesics, Non-Narcotic Phase 2
42 Antioxidants Phase 2
43 Analgesics Phase 2
44 Antirheumatic Agents Phase 2
45 Anti-Inflammatory Agents Phase 2
46 Anti-Inflammatory Agents, Non-Steroidal Phase 2
47 Tea Phase 2
48 Clofibric Acid Phase 2 882-09-7
49 Hormone Antagonists Phase 1, Phase 2
50 Hormones Phase 1, Phase 2

Interventional clinical trials:

(show all 38)
# Name Status NCT ID Phase Drugs
1 Propofol and/or Its Solvent Modify the Course of Inflammatory Response After Surgical Stress: A Randomized, Controlled, Double-blind Study Completed NCT01115179 Phase 4 propofol;Intralipid 10%;Saline
2 Short-term Effect of Extended-release Niacin With and Without the Addition of Laropiprant on Endothelial Function Completed NCT01942291 Phase 4 Niacin
3 Magnetic Resonance Characterization of Carotid Atherosclerotic Plaque in Vivo: Effect of High Density Lipoprotein Elevation on Plaque Morphology Completed NCT00307307 Phase 4 Niacin/simvastatin compared to simvastatin alone at 2 doses
4 A Randomised, Double-Blind, Placebo Controlled, Crossover Dose-Ranging Study to Investigate the Effect of Rosuvastatin (CRESTOR®) on High Density Lipoprotein Kinetics in Patients With the Metabolic Syndrome Completed NCT00240305 Phase 3 Rosuvastatin
5 Randomized Head-to-Head Comparison of Coenzyme A Capsule and Pantethine Capsule for Safety and Efficacy On Patients With Hyperlipidemia: A Phase III, Multicenter, Double-blinded, Double Dummy Clinical Trial. Completed NCT01811082 Phase 3 Coenzyme A;Pantethine
6 A Phase 3, Multicenter, Double-blind, Randomized, Placebo-controlled, Parallel-group Study to Investigate the Efficacy and Safety of CSL112 in Subjects With Acute Coronary Syndrome Recruiting NCT03473223 Phase 3
7 Phase 3, Multicenter, Randomized, 48 Week, Double Blind, Parallel Group, Placebo Controlled Study to Evaluate Efficacy and Safety of CER-001 on Vessel Wall Area in Patients With Genetically Defined Familial Primary Hypoalphalipoproteinemia Terminated NCT02697136 Phase 3 CER-001;Placebo
8 Effects of Short-term Curcumin and Multi-polyphenol Supplementation on the Anti-inflammatory Properties of HDL Unknown status NCT02998918 Phase 2
9 A First-in-human, Randomized, Double-blind, Placebo-controlled, Single-ascending Dose (Healthy Volunteers and CHD Patients) and Multiple Dose (CHD Patients) Study to Assess Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of APL180 Completed NCT00568594 Phase 1, Phase 2 APL180;Placebo
10 A Safety, Pharmacokinetic, and Pharmacodynamic Assessment of 28-Day Oral Dosing of RVX000222 in Healthy Subjects and Subjects With Low High Density Lipoprotein (HDL) Completed NCT00768274 Phase 1, Phase 2 RVX000222;Placebo
11 A Phase 2, Multicenter, Double-blind, Randomized, Placebo-controlled, Parallel-group, Study to Investigate the Safety and Tolerability of Multiple Dose Administration of CSL112 in Subjects With Moderate Renal Impairment and Acute Myocardial Infarction Completed NCT02742103 Phase 2
12 Combined Effects of Non-statin Treatments on Apolipoprotein A-I Up-Regulation (CENTAUR): A Feasibility Study Completed NCT00728910 Phase 2 Atorvastatin;ABT335;ER Niacin
13 A Phase 2b, Multi-center, Randomized, Placebo-controlled, Dose-ranging Study to Investigate the Safety and Tolerability of Multiple Dose Administration of CSL112 in Subjects With Acute Myocardial Infarction. Completed NCT02108262 Phase 2
14 Phase IIb Multi-center, Double-blind, Randomized, Parallel Group, Placebo-controlled Clinical Trial for the Assessment of Coronary Plaque Changes With RVX000222 as Determined by Intravascular Ultrasound Completed NCT01067820 Phase 2 RVX000222;Placebo RVX000222
15 Phase IIb Multi-center, Double-blind, Randomized, Parallel Group, Placebo Controlled Clinical Trial for the Assessment of Lipid Trends and Safety of RVX000222 in Statin Treated Subjects With Low Baseline HDL-C Concentrations Completed NCT01423188 Phase 2 RVX000222;Placebo RVX000222
16 The Effects of Coenzyme A on Serum Lipids in Patients With Hyperlipidemia: a Randomized, Double-blinded, Placebo-controlled, Multi-center Clinical Trial Completed NCT01645046 Phase 2 Coenzyme A;Coenzyme A;Placebo
17 A Randomized, Double-Blind Placebo-Controlled Study of 3,5-diiodothyropropionic Acid (DITPA) in Combination With Standard Therapy to Attain NCEP ATP III Goal for LDL Cholesterol in Hypercholesterolemic Patients Terminated NCT00311987 Phase 1, Phase 2 3,5-Diiodothyropropionic acid (DITPA) therapy
18 A Double-blind, Randomized, Placebo-controlled, Pharmacokinetic, Safety and Tolerability Study of CSL112 in Adult Subjects With Moderate Renal Impairment and in Healthy Adult Subjects With Normal Renal Function Completed NCT02427035 Phase 1
19 An Intravenous, Open-Label, Dose Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Fx-5A in Healthy Volunteers Not yet recruiting NCT04216342 Phase 1
20 Coronary Events, Risk Factors, and Quality of Life in Men and Women Enrolled in Intensive Lifestyle Interventions - A Prospective Evaluation of Health Services Outcomes and Emerging Cardiovascular Disease Biomarkers Unknown status NCT00820313
21 Functional Studies of High Density Lipoprotein in the Metabolic Syndrome Unknown status NCT00716300
22 Apolipoprotein A-I Gene Polymorphism and Atherosclerosis Completed NCT00005183
23 Treatment Study for Severe High-Density Lipoprotein Deficiency Completed NCT00458055 Atorvastatin; Fenofibrate; Niacin
24 The Effects of Resveratrol on Serum Apolipoprotein A-I Concentrations in Men and Women With Low HDL-cholesterol Concentrations Completed NCT01364961
25 Dietary Fat and High-Density Lipoprotein (HDL) Metabolism-Effect of Carbohydrate and Fat Intake Completed NCT01399632
26 The Effects of a Diet Rich in Fat or Theobromine on Intestinal apoA-I mRNA and Protein Expression Completed NCT02085109
27 The Effects of Short-term Theobromine Supplementation on Vascular Function and Intestinal apoA-I Production in Fasting and in the Postprandial State Completed NCT02209025
28 Association Between HDL Functions and Atherosclerotic Burden in Healthy Individuals Completed NCT02106013
29 Synergistic Effect of Simvastatin and Ezetimibe on Lipid and Pro-inflammatory Profiles in Pre-diabetic Subjects Completed NCT01103648 Simvastatin;Ezetimibe;Combination Simvastatin plus Ezetimibe
30 Effect of Tomato Consumption on Serum High Density Lipoprotein-cholesterol Levels. A Randomized, Open-label, Single Blind, Clinical Trial Completed NCT01342666
31 Biomarker for Transthyretin-Related Familial Amyloidotic Polyneuropathy - An International, Multicenter, Epidemiological Protocol Completed NCT02713880
32 Muscatine Heart Study Completed NCT00005127
33 Genetic Epidemiology of Coronary Heart Disease Completed NCT00005209
34 Characterization of Apolipoprotein A-I Pathways in Idiopathic Pulmonary Fibrosis Recruiting NCT02315586
35 The Families-At-risk for Interstitial Lung Disease Study Recruiting NCT03641742
36 Habitual Diet and Avocado Trial Recruiting NCT03528031
37 Comparison of the Relationship Between Age and Serum Paraoxonase /Arylesterase Activity of Patients With Acute Coronary Syndrome Presenting to the Emergency Department'' Recruiting NCT04243876
38 Role of Intermittent Fasting in Improving High Density Lipoprotein Cholesterol Recruiting NCT03805776

Search NIH Clinical Center for Hypoalphalipoproteinemia, Primary, 2

Cochrane evidence based reviews: hypoalphalipoproteinemias

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Genetic Tests for Hypoalphalipoproteinemia, Primary, 2

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Anatomical Context for Hypoalphalipoproteinemia, Primary, 2

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MalaCards organs/tissues related to Hypoalphalipoproteinemia, Primary, 2:

40
Heart, Liver, Lung, Endothelial
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Publications for Hypoalphalipoproteinemia, Primary, 2

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Articles related to Hypoalphalipoproteinemia, Primary, 2:

(show top 50) (show all 61)
# Title Authors PMID Year
1
Apolipoprotein A-I deficiency due to a codon 84 nonsense mutation of the apolipoprotein A-I gene. 61 6 56
1901417 1991
2
Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population: a population-based survey. 6 56
9931341 1999
3
A novel homozygous missense mutation in the apo A-I gene with apo A-I deficiency. 56 6
9514407 1998
4
A nonsense mutation in the apolipoprotein A-I gene is associated with high-density lipoprotein deficiency and periorbital xanthelasmas. 6 56
7981179 1994
5
Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene. 56 6
8240372 1993
6
A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol-acyltransferase deficiency, and corneal opacities. 6 56
1898657 1991
7
Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia. 61 56
8282791 1994
8
Approach to the patient with extremely low HDL-cholesterol. 56
23043194 2012
9
Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 6
22962670 2012
10
Marked HDL deficiency and premature coronary heart disease. 56
20616715 2010
11
Effect of recombinant ApoA-I Milano on coronary atherosclerosis in patients with acute coronary syndromes: a randomized controlled trial. 6
14600188 2003
12
Novel ABCA1 compound variant associated with HDL cholesterol deficiency. 6
12009425 2002
13
Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease. 6
11476965 2001
14
High-dose recombinant apolipoprotein A-I(milano) mobilizes tissue cholesterol and rapidly reduces plaque lipid and macrophage content in apolipoprotein e-deficient mice. Potential implications for acute plaque stabilization. 6
11425766 2001
15
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. 6
10431236 1999
16
Severe familial HDL deficiency in French-Canadian kindreds. Clinical, biochemical, and molecular characterization. 6
7627690 1995
17
The gene causing familial hypoalphalipoproteinemia is not caused by a defect in the apo AI-CIII-AIV gene cluster in a Spanish family. 56
1969839 1990
18
Apolipoprotein A1 Baltimore (Arg10----Leu), a new ApoA1 variant. 6
2108924 1990
19
Apolipoprotein A-I variants. Naturally occurring substitutions of proline residues affect plasma concentration of apolipoprotein A-I. 6
2512329 1989
20
Familial apolipoprotein A-I, C-III, and A-IV deficiency and premature atherosclerosis due to deletion of a gene complex on chromosome 11. 6
2506176 1989
21
Genetic determination of plasma apolipoprotein AI in a population-based sample. 56
2491774 1989
22
Apolipoprotein A-I (Glu 198----Lys): a mutant of the major apolipoprotein of high-density lipoproteins occurring in a family with dyslipoproteinemia. 6
3141894 1988
23
DNA inversion within the apolipoproteins AI/CIII/AIV-encoding gene cluster of certain patients with premature atherosclerosis. 56
3118360 1987
24
Deficiency of apolipoproteins A-I and C-III and severe coronary heart disease. 56
3089658 1986
25
Identification of homozygosity for a human apolipoprotein A-I variant. 6
3723016 1986
26
Apolipoprotein A-I gene polymorphism associated with premature coronary artery disease and familial hypoalphalipoproteinemia. 56
3081805 1986
27
The genetic determination of plasma apolipoprotein A-I levels measured by radioimmunoassay: a study of high-risk pedigrees. 56
3082191 1986
28
A major gene for primary hypoalphalipoproteinemia. 56
3953576 1986
29
AIMilano apoprotein identification of the complete kindred and evidence of a dominant genetic transmission. 6
3936350 1985
30
Apolipoprotein A-IGiessen (Pro143----Arg). A mutant that is defective in activating lecithin:cholesterol acyltransferase. 6
6489332 1984
31
Abnormal lecithin:cholesterol acyltransferase activation by a human apolipoprotein A-I variant in which a single lysine residue is deleted. 6
6432779 1984
32
Primary and familial hypoalphalipoproteinemia. 56
6694557 1984
33
Apolipoprotein A-IMilano. Detection of normal A-I in affected subjects and evidence for a cysteine for arginine substitution in the variant A-I. 6
6401735 1983
34
Genetic studies of an apoA-I lipoprotein variant. 6
6413385 1983
35
Cerebrovascular arteriopathy (arteriosclerosis) and ischemic childhood stroke. 56
7080131 1982
36
Apolipoprotein AIMarburg: studies on two kindreds with a mutant of human apolipoprotein AI. 6
6818131 1982
37
Genetic variants of group A apolipoproteins. Rapid methods for screening and characterization without ultracentrifugation. 6
7082443 1982
38
Plasma apolipoprotein A-1 absence associated with a marked reduction of high density lipoproteins and premature coronary artery disease. 6
6800349 1982
39
Familial hypo-alpha-lipoproteinemia. 56
7249374 1981
40
A-Imilano apoprotein. Isolation and characterization of a cysteine-containing variant of the A-I apoprotein from human high density lipoproteins. 6
6776144 1980
41
A-IMilano apoprotein. Decreased high density lipoprotein cholesterol levels with significant lipoprotein modifications and without clinical atherosclerosis in an Italian family. 6
7430351 1980
42
Distinct phospholipid and sphingolipid species are linked to altered HDL function in apolipoprotein A-I deficiency. 61
31003938 2019
43
A case of apolipoprotein A-I deficiency due to carboxyl-terminal truncation. 61
29396262 2018
44
Corneal vesicles accumulate collagen VI associated with tissue remodeling in apolipoprotein a-I deficiency: a case report. 61
28178939 2017
45
Apolipoprotein A-I deficiency does not affect biliary lipid secretion and gallstone formation in mice. 61
21134113 2011
46
Apolipoprotein A-I deficiency increases cerebral amyloid angiopathy and cognitive deficits in APP/PS1DeltaE9 mice. 61
20739292 2010
47
Histologic evaluation of a cornea in a patient with apolipoprotein A-I deficiency. 61
18362673 2008
48
Characterization of high density lipoprotein particles in familial apolipoprotein A-I deficiency. 61
17991756 2008
49
Genetically based hypertension generated through interaction of mild hypoalphalipoproteinemia and mild hyperhomocysteinemia. 61
17620955 2007
50
[Apolipoprotein A-I deficiency and variants]. 61
17821910 2007
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Variations for Hypoalphalipoproteinemia, Primary, 2

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ClinVar genetic disease variations for Hypoalphalipoproteinemia, Primary, 2:

6 (show top 50) (show all 275) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 APOA1 NM_001318021.1(APOA1):c.-240-8C>GSNV Pathogenic 17914 rs121912720 11:116707837-116707837 11:116837121-116837121
2 APOA1 NM_001318021.1(APOA1):c.-240-5C>GSNV Pathogenic 17915 rs121912721 11:116707834-116707834 11:116837118-116837118
3 ABCA1 NM_005502.4(ABCA1):c.2077_2079CTT[1] (p.Leu694del)short repeat Pathogenic 9486 rs387906412 9:107591230-107591232 9:104828949-104828951
4 ABCA1 NM_005502.4(ABCA1):c.3295G>T (p.Asp1099Tyr)SNV Pathogenic 9501 rs28933692 9:107581111-107581111 9:104818830-104818830
5 ABCA1 NM_005502.4(ABCA1):c.6026T>C (p.Phe2009Ser)SNV Pathogenic 9502 rs137854499 9:107550750-107550750 9:104788469-104788469
6 APOA1 NM_000039.2(APOA1):c.478G>A (p.Glu160Lys)SNV Pathogenic 17913 rs121912718 11:116706850-116706850 11:116836134-116836134
7 APOA1 NM_000039.2(APOA1):c.589C>T (p.Arg197Cys)SNV Pathogenic 17909 rs28931573 11:116706739-116706739 11:116836023-116836023
8 APOA1 NM_000039.2(APOA1):c.500C>G (p.Pro167Arg)SNV Pathogenic 17910 rs121912719 11:116706828-116706828 11:116836112-116836112
9 APOA1 NM_000039.2(APOA1):c.391A>T (p.Lys131Ter)SNV Pathogenic 17911 rs121912716 11:116706937-116706937 11:116836221-116836221
10 APOA1 NM_000039.2(APOA1):c.664G>A (p.Glu222Lys)SNV Pathogenic 17912 rs121912717 11:116706664-116706664 11:116835948-116835948
11 APOA1 NM_000039.2(APOA1):c.566C>G (p.Pro189Arg)SNV Pathogenic 17916 rs121912722 11:116706762-116706762 11:116836046-116836046
12 APOA1 APOA1, DELdeletion Pathogenic 17919
13 APOA1 NM_001318021.1(APOA1):c.-227G>TSNV Pathogenic 17920 rs28929476 11:116707816-116707816 11:116837100-116837100
14 APOA1 APOA1, 1-BP DEL, CODON 202deletion Pathogenic 17921
15 APOA1 NM_001318021.1(APOA1):c.-6C>TSNV Pathogenic 17922 rs121912723 11:116707006-116707006 11:116836290-116836290
16 APOA1 NM_001318021.1(APOA1):c.-162C>TSNV Pathogenic 17926 rs121912725 11:116707751-116707751 11:116837035-116837035
17 APOA1 NM_000039.2(APOA1):c.539T>A (p.Val180Glu)SNV Pathogenic 17929 rs121912727 11:116706789-116706789 11:116836073-116836073
18 APOA1 APOA1, IVS2, G-C, +1SNV Pathogenic 17930
19 ABCA1 NM_005502.4(ABCA1):c.3849_3852del (p.Pro1284fs)deletion Pathogenic 9504 rs387906415 9:107576448-107576451 9:104814167-104814170
20 APOA1 NM_001318021.1(APOA1):c.-240-9dupduplication Likely pathogenic 504196 rs753348565 11:116707831-116707832 11:116837115-116837116
21 ABCA1 NM_005502.4(ABCA1):c.5192C>G (p.Ser1731Cys)SNV Conflicting interpretations of pathogenicity 632032 rs760507032 9:107558635-107558635 9:104796354-104796354
22 ABCA1 NM_005502.4(ABCA1):c.*1790C>TSNV Conflicting interpretations of pathogenicity 912627 9:107544806-107544806 9:104782525-104782525
23 ABCA1 NM_005502.4(ABCA1):c.*1154C>ASNV Conflicting interpretations of pathogenicity 912666 9:107545442-107545442 9:104783161-104783161
24 ABCA1 NM_005502.4(ABCA1):c.*874G>ASNV Conflicting interpretations of pathogenicity 913772 9:107545722-107545722 9:104783441-104783441
25 ABCA1 NM_005502.4(ABCA1):c.*406T>CSNV Conflicting interpretations of pathogenicity 914674 9:107546190-107546190 9:104783909-104783909
26 ABCA1 NM_005502.4(ABCA1):c.6083C>T (p.Ala2028Val)SNV Conflicting interpretations of pathogenicity 913117 9:107550322-107550322 9:104788041-104788041
27 ABCA1 NM_005502.4(ABCA1):c.5649A>G (p.Ala1883=)SNV Conflicting interpretations of pathogenicity 914263 9:107555175-107555175 9:104792894-104792894
28 ABCA1 NM_005502.4(ABCA1):c.4764T>C (p.Asn1588=)SNV Conflicting interpretations of pathogenicity 913166 9:107562800-107562800 9:104800519-104800519
29 ABCA1 NM_005502.4(ABCA1):c.5245A>G (p.Ile1749Val)SNV Conflicting interpretations of pathogenicity 912803 9:107558471-107558471 9:104796190-104796190
30 ABCA1 NM_005502.4(ABCA1):c.2235G>T (p.Leu745=)SNV Conflicting interpretations of pathogenicity 914934 9:107589331-107589331 9:104827050-104827050
31 ABCA1 NM_005502.4(ABCA1):c.1695G>C (p.Arg565Ser)SNV Conflicting interpretations of pathogenicity 914472 9:107593923-107593923 9:104831642-104831642
32 ABCA1 NM_005502.4(ABCA1):c.1636A>G (p.Ile546Val)SNV Conflicting interpretations of pathogenicity 914473 9:107593982-107593982 9:104831701-104831701
33 ABCA1 NM_005502.4(ABCA1):c.1377A>C (p.Thr459=)SNV Conflicting interpretations of pathogenicity 913028 9:107594987-107594987 9:104832706-104832706
34 ABCA1 NM_005502.4(ABCA1):c.1338C>G (p.Asp446Glu)SNV Conflicting interpretations of pathogenicity 913029 9:107595026-107595026 9:104832745-104832745
35 ABCA1 NM_005502.4(ABCA1):c.1201A>C (p.Lys401Gln)SNV Conflicting interpretations of pathogenicity 913396 9:107599371-107599371 9:104837090-104837090
36 ABCA1 NM_005502.4(ABCA1):c.*3087C>TSNV Conflicting interpretations of pathogenicity 364324 rs190539368 9:107543509-107543509 9:104781228-104781228
37 ABCA1 NM_005502.4(ABCA1):c.2660G>T (p.Cys887Phe)SNV Conflicting interpretations of pathogenicity 225290 rs187652566 9:107584945-107584945 9:104822664-104822664
38 ABCA1 NM_005502.4(ABCA1):c.3103+3G>ASNV Conflicting interpretations of pathogenicity 914884 9:107582205-107582205 9:104819924-104819924
39 ABCA1 NM_005502.4(ABCA1):c.720+12T>CSNV Conflicting interpretations of pathogenicity 915034 9:107620791-107620791 9:104858510-104858510
40 ABCA1 NM_005502.4(ABCA1):c.551T>C (p.Leu184Ser)SNV Conflicting interpretations of pathogenicity 913436 9:107620972-107620972 9:104858691-104858691
41 ABCA1 NM_005502.4(ABCA1):c.6308+4C>TSNV Conflicting interpretations of pathogenicity 912754 9:107549150-107549150 9:104786869-104786869
42 ABCA1 NM_005502.4(ABCA1):c.*1260C>GSNV Conflicting interpretations of pathogenicity 364356 rs148609447 9:107545336-107545336 9:104783055-104783055
43 ABCA1 NM_005502.4(ABCA1):c.*1218A>GSNV Conflicting interpretations of pathogenicity 364357 rs528656411 9:107545378-107545378 9:104783097-104783097
44 ABCA1 NM_005502.4(ABCA1):c.*1211G>ASNV Conflicting interpretations of pathogenicity 364358 rs547220092 9:107545385-107545385 9:104783104-104783104
45 ABCA1 NM_005502.4(ABCA1):c.*368A>GSNV Conflicting interpretations of pathogenicity 364368 rs13306080 9:107546228-107546228 9:104783947-104783947
46 ABCA1 NM_005502.4(ABCA1):c.4195A>T (p.Thr1399Ser)SNV Conflicting interpretations of pathogenicity 364404 rs538614702 9:107571826-107571826 9:104809545-104809545
47 ABCA1 NM_005502.4(ABCA1):c.3544G>A (p.Ala1182Thr)SNV Conflicting interpretations of pathogenicity 364414 rs143180998 9:107578618-107578618 9:104816337-104816337
48 ABCA1 NM_005502.4(ABCA1):c.*2089G>ASNV Conflicting interpretations of pathogenicity 364337 rs146353431 9:107544507-107544507 9:104782226-104782226
49 ABCA1 NM_005502.4(ABCA1):c.*1768T>ASNV Conflicting interpretations of pathogenicity 364342 rs535255845 9:107544828-107544828 9:104782547-104782547
50 ABCA1 NM_005502.4(ABCA1):c.*1767G>TSNV Conflicting interpretations of pathogenicity 364343 rs547281385 9:107544829-107544829 9:104782548-104782548
Sources

Expression for Hypoalphalipoproteinemia, Primary, 2

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Search GEO for disease gene expression data for Hypoalphalipoproteinemia, Primary, 2.
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Pathways for Hypoalphalipoproteinemia, Primary, 2

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Pathways related to Hypoalphalipoproteinemia, Primary, 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) 65
Show member pathways
 12.14 APOA1 ABCA1
2
Lipoprotein metabolism 65
Show member pathways
 11.86 APOA1 ABCA1
3
Folate Metabolism 1
Show member pathways
 11.59 APOA1 ABCA1
4
Statin Pathway 1
Show member pathways
 11.23 APOA1 ABCA1
5
Fat digestion and absorption 36
Show member pathways
 10.62 APOA1 ABCA1
6
Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF) 22
9.9 APOA1 ABCA1
Sources

GO Terms for Hypoalphalipoproteinemia, Primary, 2

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Cellular components related to Hypoalphalipoproteinemia, Primary, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 8.96 APOA1 ABCA1
2 endocytic vesicle GO:0030139 8.62 APOA1 ABCA1

Biological processes related to Hypoalphalipoproteinemia, Primary, 2 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.6 APOA1 ABCA1
2 lipid metabolic process GO:0006629 9.59 APOA1 ABCA1
3 response to drug GO:0042493 9.58 APOA1 ABCA1
4 lipid transport GO:0006869 9.58 APOA1 ABCA1
5 steroid metabolic process GO:0008202 9.57 APOA1 ABCA1
6 cholesterol homeostasis GO:0042632 9.56 APOA1 ABCA1
7 cholesterol metabolic process GO:0008203 9.55 APOA1 ABCA1
8 regulation of lipid metabolic process GO:0019216 9.54 APOA1 ABCA1
9 response to nutrient GO:0007584 9.52 APOA1 ABCA1
10 intermembrane lipid transfer GO:0120009 9.51 APOA1 ABCA1
11 phospholipid transport GO:0015914 9.49 APOA1 ABCA1
12 lipoprotein metabolic process GO:0042157 9.48 APOA1 ABCA1
13 cholesterol transport GO:0030301 9.46 APOA1 ABCA1
14 cholesterol efflux GO:0033344 9.43 APOA1 ABCA1
15 positive regulation of cholesterol efflux GO:0010875 9.4 APOA1 ABCA1
16 reverse cholesterol transport GO:0043691 9.37 APOA1 ABCA1
17 high-density lipoprotein particle assembly GO:0034380 9.32 APOA1 ABCA1
18 phospholipid homeostasis GO:0055091 9.26 APOA1 ABCA1
19 phospholipid efflux GO:0033700 9.16 APOA1 ABCA1
20 regulation of Cdc42 protein signal transduction GO:0032489 8.96 APOA1 ABCA1
21 lipoprotein biosynthetic process GO:0042158 8.62 APOA1 ABCA1

Molecular functions related to Hypoalphalipoproteinemia, Primary, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.37 APOA1 ABCA1
2 cholesterol binding GO:0015485 9.32 APOA1 ABCA1
3 lipid transporter activity GO:0005319 9.26 APOA1 ABCA1
4 phosphatidylcholine binding GO:0031210 9.16 APOA1 ABCA1
5 intermembrane cholesterol transfer activity GO:0120020 8.96 APOA1 ABCA1
6 high-density lipoprotein particle binding GO:0008035 8.62 APOA1 ABCA1
Sources

Sources for Hypoalphalipoproteinemia, Primary, 2

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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