Hypoalphalipoproteinemia, Primary, 1 (HDLD2)

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

Aliases & Classifications for Hypoalphalipoproteinemia, Primary, 1

MalaCards integrated aliases for Hypoalphalipoproteinemia, Primary, 1:

Name: Hypoalphalipoproteinemia, Primary, 1 57
Familial Hypoalphalipoproteinemia 25 59 74 29 6
Fha 57 53 25 74
Familial Hdl Deficiency 57 53 25
Hdld 57 53 25
High Density Lipoprotein Deficiency 57 53
Hypoalphalipoproteinemia, Familial 57 53
Hdl Deficiency, Type 2 25 13
Fhd 57 53
High Density Lipoprotein Deficiency; Hdld 57
Hypoalphalipoproteinemia, Familial; Fha 57
High Density Lipoprotein Deficiency 2 74
Hypoalphalipoproteinemia, Primary 53
Hdl Cholesterol, Low Serum; Hdlc 57
Primary Hypoalphalipoproteinemia 25
Apolipoprotein a-I Deficiency 59
Familial Hdl Deficiency; Fhd 57
Hdl Deficiency, Familial, 1 57
Hdl Cholesterol, Low Serum 57
Familial Apoa-I Deficiency 59
Low Serum Hdl Cholesterol 25
Apolipoprotein a-I 6
Apoa-I Deficiency 59
Hdld2 74
Hdlc 57


Orphanet epidemiological data:

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


hypoalphalipoproteinemia, primary, 1:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 57 604091
MESH via Orphanet 45 D052456
ICD10 via Orphanet 34 E78.6
UMLS via Orphanet 73 C0342898 C1704429
Orphanet 59 ORPHA425

Summaries for Hypoalphalipoproteinemia, Primary, 1

Genetics Home Reference : 25 Familial HDL deficiency is a condition characterized by low levels of high-density lipoprotein (HDL) in the blood. HDL is a molecule that transports cholesterol and certain fats called phospholipids through the bloodstream from the body's tissues to the liver. Once in the liver, cholesterol and phospholipids are redistributed to other tissues or removed from the body. HDL is often referred to as "good cholesterol" because high levels of this substance reduce the chances of developing heart and blood vessel (cardiovascular) disease. People with familial HDL deficiency may develop cardiovascular disease at a relatively young age, often before age 50. Severely reduced levels of HDL in the blood is a characteristic feature of a related disorder called Tangier disease. People with Tangier disease have additional signs and symptoms, such as disturbances in nerve function; enlarged, orange-colored tonsils; and clouding of the clear covering of the eye (corneal clouding). However, people with familial HDL deficiency do not have these additional features.

MalaCards based summary : Hypoalphalipoproteinemia, Primary, 1, also known as familial hypoalphalipoproteinemia, is related to tangier disease and atherosclerosis susceptibility. An important gene associated with Hypoalphalipoproteinemia, Primary, 1 is ABCA1 (ATP Binding Cassette Subfamily A Member 1), and among its related pathways/superpathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Lipoprotein metabolism. The drugs Atorvastatin and Nicotinamide have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and eye, and related phenotypes are premature coronary artery atherosclerosis and corneal opacity

NIH Rare Diseases : 53 Familial HDL deficiency is a rare genetic condition that causes low levels of "good" cholesterol (HDL) in the blood. HDL helps remove excess cholesterol and fats from your blood. People with familial HDL deficiency may develop cardiovascular disease at a relatively young age, often before age 50. This condition is caused by changes in the ABCA1 or the APOA1 genes. The deficiency is passed through families in an autosomal dominant pattern. More severely reduced levels of HDL in the blood is a characteristic feature of a related disorder called Tangier disease.

OMIM : 57 Twenty to 30% of early familial coronary heart disease (CHD) is ascribed to hypoalphalipoproteinemia, or high density lipoprotein deficiency. Although not initially recognized as a predisposing dyslipidemia, extensive epidemiologic work has implicated low high-density lipoprotein cholesterol (HDLC) levels in increased risk of cardiovascular disease, and low HDLC is considered to be a true dyslipidemic syndrome (Warnick and Wood, 1995). (604091)

UniProtKB/Swiss-Prot : 74 High density lipoprotein deficiency 2: Inherited as autosomal dominant trait. It is characterized by moderately low HDL cholesterol, predilection toward premature coronary artery disease (CAD) and a reduction in cellular cholesterol efflux.

Related Diseases for Hypoalphalipoproteinemia, Primary, 1

Diseases in the Hypoalphalipoproteinemia family:

Hypoalphalipoproteinemia, Primary, 1 Hypoalphalipoproteinemia, Primary, 2

Diseases related to Hypoalphalipoproteinemia, Primary, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 351)
# Related Disease Score Top Affiliating Genes
1 tangier disease 31.7 APOA1 ABCA1
2 atherosclerosis susceptibility 29.8 APOA1 ABCA1
3 hypolipoproteinemia 29.8 APOA1 ABCA1
4 coronary heart disease 1 29.7 APOA1 ABCA1
5 lipid metabolism disorder 29.6 APOA1 ABCA1
6 hyperalphalipoproteinemia 1 29.4 APOA1 ABCA1
7 arteries, anomalies of 29.3 APOA1 ABCA1
8 heart disease 29.3 APOA1 ABCA1
9 myocardial infarction 29.3 APOA1 ABCA1
10 body mass index quantitative trait locus 11 29.1 APOA1 ABCA1
11 vascular disease 29.1 APOA1 ABCA1
12 aapoai amyloidosis 12.2
13 hypoalphalipoproteinemia, primary, 2 11.9
14 amyloidosis, familial visceral 11.6
15 high density lipoprotein cholesterol level quantitative trait locus 1 11.6
16 nad hx epimerase deficiency 11.5
17 abdominal obesity-metabolic syndrome 1 11.2
18 pertussis 10.7
19 liver disease 10.3
20 fish-eye disease 10.3
21 eye disease 10.3
22 proteasome-associated autoinflammatory syndrome 1 10.3
23 rapidly involuting congenital hemangioma 10.3
24 familial hypercholesterolemia 10.3
25 hepatoblastoma 10.3
26 hereditary amyloidosis 10.3
27 hypertriglyceridemia, familial 10.3
28 acute myocardial infarction 10.3
29 48,xyyy 10.3
30 ataxia and polyneuropathy, adult-onset 10.2
31 tetanus 10.2
32 diphtheria 10.2
33 amenorrhea 10.2
34 hypoalphalipoproteinemia 10.2
35 dengue disease 10.2
36 dengue hemorrhagic fever 10.2
37 cytokine deficiency 10.2
38 neuropathy 10.2
39 rheumatoid arthritis 10.2
40 homocysteinemia 10.2
41 diabetes mellitus, insulin-dependent 10.2
42 nephrotic syndrome 10.2
43 cholestasis 10.2
44 hypothyroidism 10.2
45 hypogonadism 10.2
46 ischemia 10.2
47 kidney disease 10.2
48 hypogonadotropism 10.2
49 chronic kidney disease 10.2
50 hyperthyroidism 10.2

Graphical network of the top 20 diseases related to Hypoalphalipoproteinemia, Primary, 1:

Diseases related to Hypoalphalipoproteinemia, Primary, 1

Symptoms & Phenotypes for Hypoalphalipoproteinemia, Primary, 1

Human phenotypes related to Hypoalphalipoproteinemia, Primary, 1:

32 59 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 premature coronary artery atherosclerosis 32 very rare (1%) HP:0005181
2 corneal opacity 59 32 Frequent (79-30%) HP:0007957
3 decreased hdl cholesterol concentration 59 32 Frequent (79-30%) HP:0003233
4 splenomegaly 59 Frequent (79-30%)
5 renal insufficiency 32 HP:0000083
6 emg abnormality 59 Frequent (79-30%)
7 anemia 59 Frequent (79-30%)
8 myocardial infarction 32 HP:0001658
9 hemiplegia/hemiparesis 59 Frequent (79-30%)
10 congestive heart failure 32 HP:0001635
11 peptic ulcer 32 HP:0004398
12 blurred vision 59 Frequent (79-30%)
13 lymphadenopathy 59 Frequent (79-30%)
14 abnormality of the liver 59 Frequent (79-30%)
15 xanthomatosis 59 Frequent (79-30%)
16 coronary artery atherosclerosis 32 HP:0001677
17 renal amyloidosis 32 HP:0001917
18 hepatic amyloidosis 32 HP:0012280

Clinical features from OMIM:


GenomeRNAi Phenotypes related to Hypoalphalipoproteinemia, Primary, 1 according to GeneCards Suite gene sharing:

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.62 ABCA1 APOA1

Drugs & Therapeutics for Hypoalphalipoproteinemia, Primary, 1

Drugs for Hypoalphalipoproteinemia, Primary, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 98)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Atorvastatin Approved Phase 4 134523-00-5 60823
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
Simvastatin Approved Phase 4 79902-63-9 54454
Metformin Approved Phase 4 657-24-9 4091 14219
Glyburide Approved Phase 4 10238-21-8 3488
Vildagliptin Approved, Investigational Phase 4 274901-16-5 6918537
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
12 Micronutrients Phase 4
13 Trace Elements Phase 4
14 Lipid Regulating Agents Phase 4
15 Vitamins Phase 4
16 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
17 Vitamin B9 Phase 4
18 Folate Phase 4
19 Hypolipidemic Agents Phase 4
20 Vitamin B3 Phase 4
21 Vitamin B Complex Phase 4
22 Nicotinic Acids Phase 4
23 Anticholesteremic Agents Phase 4
24 Vasodilator Agents Phase 4
25 Antimetabolites Phase 4
26 Nutrients Phase 4
27 Fat Emulsions, Intravenous Phase 4
28 Parenteral Nutrition Solutions Phase 4
29 Soy Bean Phase 4
30 Soybean oil, phospholipid emulsion Phase 4
31 Central Nervous System Depressants Phase 4
32 Hypnotics and Sedatives Phase 4
33 Anesthetics Phase 4
34 Anesthetics, Inhalation Phase 4
35 Anesthetics, General Phase 4
36 Anesthetics, Intravenous Phase 4
37 Hypoglycemic Agents Phase 4
38 HIV Protease Inhibitors Phase 4
protease inhibitors Phase 4
40 Dipeptidyl-Peptidase IV Inhibitors Phase 4
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
42 Rosuvastatin Calcium Phase 3 147098-20-2
43 Calcium, Dietary Phase 3
44 Pharmaceutical Solutions Phase 3
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
Fenofibrate Approved Phase 2 49562-28-9 3339
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244

Interventional clinical trials:

(show top 50) (show all 55)
# Name Status NCT ID Phase Drugs
1 Effects of High Dose Simvastatin vs. Atorvastatin on Baseline Lipoprotein Profiles, Apo-A-1 and C Reactive Protein Unknown status NCT00736463 Phase 4 Simvastatin;Atorvastatin 80 mg
2 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
3 12-week Randomized Study to Compare the Effect of Vildagliptin vs. Glibenclamide Associated to Metformin in Endothelial Function in Patients With Type 2 Diabetes and Hypertension Completed NCT02145611 Phase 4 Glibenclamide;Vildagliptin
4 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
5 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
6 HDL-Atherosclerosis Treatment Study (HATS) Completed NCT00000553 Phase 3 simvastatin;niacin;antioxidants
7 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
8 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
9 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
10 A Phase I/II, Single-Center, Randomized, Placebo-Controlled Study Evaluating the Therapeutic Efficacy of Intravenously Injected PEG-liposomal Prednisolone Sodium Phosphate (Nanocort®) in Subjects With Severe Inflamed Carotid or Aortic Atherosclerosis Plaques Unknown status NCT01601106 Phase 1, Phase 2 liposomal prednisolone;Placebo
11 A Proof of Concept Study to Determine the Local Delivery and Efficacy of Intravenously Injected PEG-liposomal Prednisolone Sodium Phosphate (Nanocort) in Atherosclerotic Tissue in Subjects With Peripheral Artery Disease. Unknown status NCT01647685 Phase 1, Phase 2 Nanocort;Methylprednisolone;Placebo
12 A Multi-center, Three-staged, Randomized, Parallel Group, Sequential, Double-blind, fenofibrate-and Placebo-controlled Dose-response Evaluation of the Safety, Tolerability, and Effects on Plasma HDLc and TG of Eight Weeks Treatment With 1µg to 20µg Daily Doses of GW590735 in Otherwise Healthy Subjects With Low HDLc, Mildly to Moderately Elevated TG, and Normal LDLc Completed NCT00169559 Phase 2 GW590735;fenofibrate
13 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
14 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
15 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
16 Combined Effects of Non-statin Treatments on Apolipoprotein A-I Up-Regulation (CENTAUR): A Feasibility Study Completed NCT00728910 Phase 2 Atorvastatin;ABT335;ER Niacin
17 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
18 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
19 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
20 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
21 Effects of Short-term Curcumin and Multi-polyphenol Supplementation on the Anti-inflammatory Properties of HDL Recruiting NCT02998918 Phase 2
22 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
23 Safety, Immunogenicity and Dose Response of ATH03, a New Vaccine Against the Cholesterol Ester Transfer Protein (CETP), in Healthy Male Subjects With High Density Lipoprotein Cholesterol (HDLc) Blood Concentrations Equal or Below 80 mg/dl Completed NCT01284582 Phase 1
24 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
25 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
26 Functional Studies of High Density Lipoprotein in the Metabolic Syndrome Unknown status NCT00716300
27 Type 2 Diabetes Mellitus Collaborative Genetic Study Room Unknown status NCT01250639
28 Comparison of LDL-P With LDLC From VAPII, NMR, and Ion Mobility Unknown status NCT02298894
29 Apolipoprotein A-I Gene Polymorphism and Atherosclerosis Completed NCT00005183
30 Treatment Study for Severe High-Density Lipoprotein Deficiency Completed NCT00458055 Atorvastatin; Fenofibrate; Niacin
31 Nutritional Status of Residents From the Chinese National Health and Nutrition Survey During 2010-2012 Completed NCT03660527
32 The Effects of Resveratrol on Serum Apolipoprotein A-I Concentrations in Men and Women With Low HDL-cholesterol Concentrations Completed NCT01364961
33 Quantitative Genetic Analysis of Lipid Research Clinic Family Data Completed NCT00005188
34 Sex Steroids, Obesity and Lipids in Adolescent Females Completed NCT00005210
35 Phase 1. Collect Samples of Breast Biopsy Patients Treated at the Hospital Radiology Service Maternal Perinatal Monica Pretelini Completed NCT01643148
36 Dietary Fat and High-Density Lipoprotein (HDL) Metabolism-Effect of Carbohydrate and Fat Intake Completed NCT01399632
37 The Effects of a Diet Rich in Fat or Theobromine on Intestinal apoA-I mRNA and Protein Expression Completed NCT02085109
38 The Effects of Short-term Theobromine Supplementation on Vascular Function and Intestinal apoA-I Production in Fasting and in the Postprandial State Completed NCT02209025
39 Association Between HDL Functions and Atherosclerotic Burden in Healthy Individuals Completed NCT02106013
40 Synergistic Effect of Simvastatin and Ezetimibe on Lipid and Pro-inflammatory Profiles in Pre-diabetic Subjects Completed NCT01103648 Simvastatin;Ezetimibe;Combination Simvastatin plus Ezetimibe
41 Epidemiology of Coronary Heart Disease in Men Aged 40 and Over Completed NCT00069797
42 Muscatine Heart Study Completed NCT00005127
43 Placebo-controlled, Randomized, Double Blind Trial, What is the Therapeutic Effect of Metformin and Acupuncture Combined Therapy in Comparison With Metformin Monotherapy on Weight Loss and Insulin Sensitivity in Diabetic Patients Completed NCT02438540 metformin
44 National Growth and Health Study (NGHS) Completed NCT00005132
45 USE OF KEFIR AS A CO-ADJUVANT IN THE TREATMENT OF METABOLIC SYNDROME COMPONENTS: a Double-blind, Randomized, Placebo Controlled Clinical Trial Completed NCT03649828
46 Genetic Epidemiology of Coronary Heart Disease Completed NCT00005209
47 Correlation of Circulating Irisin and Adipokine Levels Across a Broad Spectrum of Body Mass Index Ranging From Undernourished to Obese and With Insulin Resistance and Risk Factors for the Metabolic Syndrome in Hispanic Children Completed NCT02320110
48 Effects of Exercise Training on Vascular Endothelial Function of Patients Submitted to Coronary Artery Bypass Graft Completed NCT02265107
49 Characterization of Apolipoprotein A-I Pathways in Idiopathic Pulmonary Fibrosis Recruiting NCT02315586
50 The Families-At-risk for Interstitial Lung Disease Study Recruiting NCT03641742

Search NIH Clinical Center for Hypoalphalipoproteinemia, Primary, 1

Genetic Tests for Hypoalphalipoproteinemia, Primary, 1

Genetic tests related to Hypoalphalipoproteinemia, Primary, 1:

# Genetic test Affiliating Genes
1 Familial Hypoalphalipoproteinemia 29 ABCA1 APOA1

Anatomical Context for Hypoalphalipoproteinemia, Primary, 1

MalaCards organs/tissues related to Hypoalphalipoproteinemia, Primary, 1:

Heart, Liver, Eye, Tonsil, Endothelial, Brain, Lung

Publications for Hypoalphalipoproteinemia, Primary, 1

Articles related to Hypoalphalipoproteinemia, Primary, 1:

(show top 50) (show all 78)
# Title Authors PMID Year
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. 8 71
10431236 1999
Severe familial HDL deficiency in French-Canadian kindreds. Clinical, biochemical, and molecular characterization. 8 71
7627690 1995
Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population: a population-based survey. 38 71
9931341 1999
Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene. 38 71
8240372 1993
Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 71
22962670 2012
Effect of recombinant ApoA-I Milano on coronary atherosclerosis in patients with acute coronary syndromes: a randomized controlled trial. 71
14600188 2003
Novel ABCA1 compound variant associated with HDL cholesterol deficiency. 71
12009425 2002
Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease. 71
11476965 2001
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. 71
11425766 2001
Cellular cholesterol transport and efflux in fibroblasts are abnormal in subjects with familial HDL deficiency. 8
9888879 1999
National Cholesterol Education Program recommendations for measurement of high-density lipoprotein cholesterol: executive summary. The National Cholesterol Education Program Working Group on Lipoprotein Measurement. 8
7586512 1995
Apolipoprotein A-I variants. Naturally occurring substitutions of proline residues affect plasma concentration of apolipoprotein A-I. 71
2512329 1989
Apolipoprotein A-I (Glu 198----Lys): a mutant of the major apolipoprotein of high-density lipoproteins occurring in a family with dyslipoproteinemia. 71
3141894 1988
Identification of homozygosity for a human apolipoprotein A-I variant. 71
3723016 1986
AIMilano apoprotein identification of the complete kindred and evidence of a dominant genetic transmission. 71
3936350 1985
Apolipoprotein A-IGiessen (Pro143----Arg). A mutant that is defective in activating lecithin:cholesterol acyltransferase. 71
6489332 1984
Abnormal lecithin:cholesterol acyltransferase activation by a human apolipoprotein A-I variant in which a single lysine residue is deleted. 71
6432779 1984
Apolipoprotein A-IMilano. Detection of normal A-I in affected subjects and evidence for a cysteine for arginine substitution in the variant A-I. 71
6401735 1983
Genetic studies of an apoA-I lipoprotein variant. 71
6413385 1983
Apolipoprotein AIMarburg: studies on two kindreds with a mutant of human apolipoprotein AI. 71
6818131 1982
Genetic variants of group A apolipoproteins. Rapid methods for screening and characterization without ultracentrifugation. 71
7082443 1982
A-Imilano apoprotein. Isolation and characterization of a cysteine-containing variant of the A-I apoprotein from human high density lipoproteins. 71
6776144 1980
A-IMilano apoprotein. Decreased high density lipoprotein cholesterol levels with significant lipoprotein modifications and without clinical atherosclerosis in an Italian family. 71
7430351 1980
ATP-binding cassette transporter A1: A promising therapy target for prostate cancer. 38
29399345 2018
Effect of open-label infusion of an apoA-I-containing particle (CER-001) on RCT and artery wall thickness in patients with FHA. 38
25561459 2015
Treatment of low HDL-C subjects with the CETP modulator dalcetrapib increases plasma campesterol only in those without ABCA1 and/or ApoA1 mutations. 38
25281277 2014
A Comprehensive In Silico Analysis of the Functional and Structural Impact of Nonsynonymous SNPs in the ABCA1 Transporter Gene. 38
25215231 2014
Anticancer activity of the cholesterol exporter ABCA1 gene. 38
22981231 2012
Increased risk of coronary artery disease in Caucasians with extremely low HDL cholesterol due to mutations in ABCA1, APOA1, and LCAT. 38
21875686 2012
An ABCA1 truncation shows no dominant negative effect in a familial hypoalphalipoproteinemia pedigree with three ABCA1 mutations. 38
21575609 2011
Reduced fecal sterol excretion in subjects with familial hypoalphalipoproteinemia. 38
19616211 2009
Novel mutation in the ABCA1 gene identified in a chinese patient with dementia and atherothrombotic cerebral infarction. 38
18841006 2008
Genetic determinants of plasma lipoproteins. 38
17957207 2007
R219K polymorphism of ATP binding cassette transporter A1 related with low HDL in overweight/obese Thai males. 38
17923263 2007
Specific mutations in ABCA1 have discrete effects on ABCA1 function and lipid phenotypes both in vivo and in vitro. 38
16873719 2006
Promoter haplotype of a new ABCA1 mutant influences expression of familial hypoalphalipoproteinemia. 38
16225879 2006
ABCA1, ApoA-I and type II DM. 38
16009332 2005
Consequences of cholesteryl ester transfer protein inhibition in patients with familial hypoalphalipoproteinemia. 38
16127020 2005
[New aspects of normolipidemic dyslipoproteinemias]. 38
16107011 2004
Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders. 38
15019541 2004
Novel polypyrimidine variation (IVS46: del T -39...-46) in ABCA1 causes exon skipping and contributes to HDL cholesterol deficiency in a family with premature coronary disease. 38
14576201 2003
Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene. 38
12763760 2003
R219K polymorphism of the ABCA1 gene and its modulation of the variations in serum high-density lipoprotein cholesterol and triglycerides related to age and adiposity in white versus black young adults. The Bogalusa heart study. 38
12870173 2003
The role of the ABCA1 transporter and cholesterol efflux in familial hypoalphalipoproteinemia. 38
12700344 2003
Restoration of endothelial function by increasing high-density lipoprotein in subjects with isolated low high-density lipoprotein. 38
12771001 2003
ATP-binding cassette transporter A1 locus is not a major determinant of HDL-C levels in a population at high risk for coronary heart disease. 38
12535741 2003
Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of the WHAM chicken. 38
12364545 2002
ABCA1(Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease. 38
12204794 2002
[Case of familial hypoalphalipoproteinemia, type 2 diabetes mellitus and markedly advanced atherosclerosis with ABCAlexon 4 minus transcript in macrophages]. 38
12373902 2002
ApoA-I(MALLORCA) impairs LCAT activation and induces dominant familial hypoalphalipoproteinemia. 38
11792730 2002

Variations for Hypoalphalipoproteinemia, Primary, 1

ClinVar genetic disease variations for Hypoalphalipoproteinemia, Primary, 1:

6 (show all 14)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ABCA1 NM_005502.4(ABCA1): c.2077_2079CTT[1] (p.Leu694del) short repeat Pathogenic rs387906412 9:107591230-107591232 9:104828949-104828951
2 APOA1 NM_000039.2(APOA1): c.589C> T (p.Arg197Cys) single nucleotide variant Pathogenic rs28931573 11:116706739-116706739 11:116836023-116836023
3 APOA1 NM_000039.2(APOA1): c.500C> G (p.Pro167Arg) single nucleotide variant Pathogenic rs121912719 11:116706828-116706828 11:116836112-116836112
4 APOA1 NM_000039.2(APOA1): c.391A> T (p.Lys131Ter) single nucleotide variant Pathogenic rs121912716 11:116706937-116706937 11:116836221-116836221
5 APOA1 NM_000039.2(APOA1): c.664G> A (p.Glu222Lys) single nucleotide variant Pathogenic rs121912717 11:116706664-116706664 11:116835948-116835948
6 APOA1 NM_000039.2(APOA1): c.478G> A (p.Glu160Lys) single nucleotide variant Pathogenic rs121912718 11:116706850-116706850 11:116836134-116836134
7 APOA1 NM_000039.2(APOA1): c.80C> G (p.Pro27Arg) single nucleotide variant Pathogenic rs121912720 11:116707837-116707837 11:116837121-116837121
8 APOA1 NM_000039.2(APOA1): c.83C> G (p.Pro28Arg) single nucleotide variant Pathogenic rs121912721 11:116707834-116707834 11:116837118-116837118
9 APOA1 APOA1, 1-BP INS insertion Pathogenic
10 APOA1 APOA1, IVS2, G-C, +1 single nucleotide variant Pathogenic
11 ABCA1 NM_005502.4(ABCA1): c.5192C> G (p.Ser1731Cys) single nucleotide variant Pathogenic 9:107558635-107558635 9:104796354-104796354
12 ABCA1 NM_005502.4(ABCA1): c.3849_3852del (p.Pro1284fs) deletion Pathogenic rs387906415 9:107576450-107576453 9:104814169-104814172
13 ABCA1 NM_005502.4(ABCA1): c.6026T> C (p.Phe2009Ser) single nucleotide variant Pathogenic rs137854499 9:107550750-107550750 9:104788469-104788469
14 ABCA1 NM_005502.4(ABCA1): c.3295G> T (p.Asp1099Tyr) single nucleotide variant Pathogenic rs28933692 9:107581111-107581111 9:104818830-104818830

UniProtKB/Swiss-Prot genetic disease variations for Hypoalphalipoproteinemia, Primary, 1:

# Symbol AA change Variation ID SNP ID
1 ABCA1 p.Met1091Thr VAR_012628
2 ABCA1 p.Pro2150Leu VAR_012636 rs369098049
3 ABCA1 p.Pro85Leu VAR_017529 rs145183203
4 ABCA1 p.Asp1099Tyr VAR_017530 rs28933692
5 ABCA1 p.Phe2009Ser VAR_037971 rs137854499

Expression for Hypoalphalipoproteinemia, Primary, 1

Search GEO for disease gene expression data for Hypoalphalipoproteinemia, Primary, 1.

Pathways for Hypoalphalipoproteinemia, Primary, 1

GO Terms for Hypoalphalipoproteinemia, Primary, 1

Cellular components related to Hypoalphalipoproteinemia, Primary, 1 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, 1 according to GeneCards Suite gene sharing:

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

Molecular functions related to Hypoalphalipoproteinemia, Primary, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phospholipid binding GO:0005543 9.37 APOA1 ABCA1
2 cholesterol binding GO:0015485 9.32 APOA1 ABCA1
3 lipid transporter activity GO:0005319 9.26 APOA1 ABCA1
4 phospholipid transporter activity GO:0005548 9.16 APOA1 ABCA1
5 cholesterol transporter activity GO:0017127 8.96 APOA1 ABCA1
6 high-density lipoprotein particle binding GO:0008035 8.62 APOA1 ABCA1

Sources for Hypoalphalipoproteinemia, Primary, 1

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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