HDLD2
MCID: HYP841
MIFTS: 41

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 56
Familial Hypoalphalipoproteinemia 25 73 29 6
Fha 56 52 25 73
Familial Hdl Deficiency 56 52 25
Hdl Deficiency, Type 2 25 29 13
Hdld 56 52 25
High Density Lipoprotein Deficiency 56 52
Hypoalphalipoproteinemia, Familial 56 52
Fhd 56 52
High Density Lipoprotein Deficiency; Hdld 56
Hypoalphalipoproteinemia, Familial; Fha 56
High Density Lipoprotein Deficiency 2 73
Hypoalphalipoproteinemia, Primary 52
Hdl Cholesterol, Low Serum; Hdlc 56
Primary Hypoalphalipoproteinemia 25
Familial Hdl Deficiency; Fhd 56
Hdl Deficiency, Familial, 1 56
Hdl Cholesterol, Low Serum 56
Low Serum Hdl Cholesterol 25
Hdld2 73
Hdlc 56

Characteristics:

HPO:

31
hypoalphalipoproteinemia, primary, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 604091
SNOMED-CT via HPO 68 190785000 22298006 263681008

Summaries for Hypoalphalipoproteinemia, Primary, 1

Genetics Home Reference : 25 Familial HDL deficiency is a condition characterized by low levels of high-density lipoprotei% (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 hypoalphalipoproteinemia, primary, 2 and high density lipoprotein cholesterol level quantitative trait locus 1. An important gene associated with Hypoalphalipoproteinemia, Primary, 1 is ABCA1 (ATP Binding Cassette Subfamily A Member 1). The drugs Atorvastatin and Simvastatin 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 myocardial infarction

NIH Rare Diseases : 52 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 : 56 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 : 73 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 92)
# Related Disease Score Top Affiliating Genes
1 hypoalphalipoproteinemia, primary, 2 11.9
2 high density lipoprotein cholesterol level quantitative trait locus 1 11.6
3 tangier disease 11.6
4 abdominal obesity-metabolic syndrome 1 11.2
5 pertussis 10.7
6 tetanus 10.3
7 diphtheria 10.3
8 atherosclerosis susceptibility 10.3
9 fish-eye disease 10.3
10 eye disease 10.3
11 hypertriglyceridemia, familial 10.3
12 coronary heart disease 1 10.3
13 ataxia and polyneuropathy, adult-onset 10.3
14 amenorrhea 10.3
15 dengue disease 10.2
16 dengue hemorrhagic fever 10.2
17 cytokine deficiency 10.2
18 breast cancer 10.2
19 ataxia-telangiectasia 10.2
20 nijmegen breakage syndrome 10.2
21 helix syndrome 10.2
22 telangiectasis 10.2
23 cholera 10.2
24 hypolipoproteinemia 10.2
25 peripheral nervous system disease 10.2
26 neuropathy 10.2
27 splenomegaly 10.2
28 lipid metabolism disorder 10.1
29 hypoalphalipoproteinemia 10.1
30 arteries, anomalies of 10.1
31 hypertension, essential 10.1
32 huntington disease-like 2 10.1
33 autonomic neuropathy 10.1
34 hyperinsulinism 10.1
35 hyperglycemia 10.1
36 lecithin:cholesterol acyltransferase deficiency 10.1
37 myocardial infarction 10.1
38 hutchinson-gilford progeria syndrome 10.0
39 leprosy 3 10.0
40 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.0
41 major depressive disorder 10.0
42 deficiency anemia 10.0
43 lepromatous leprosy 10.0
44 mental depression 10.0
45 severe combined immunodeficiency 10.0
46 hansen's disease 10.0
47 depression 10.0
48 klippel-trenaunay-weber syndrome 10.0
49 nondisjunction 10.0
50 retinoblastoma 10.0

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:

31
# Description HPO Frequency HPO Source Accession
1 premature coronary artery atherosclerosis 31 very rare (1%) HP:0005181
2 myocardial infarction 31 HP:0001658
3 decreased hdl cholesterol concentration 31 HP:0003233

Clinical features from OMIM:

604091

Drugs & Therapeutics for Hypoalphalipoproteinemia, Primary, 1

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

(show top 50) (show all 62)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atorvastatin Approved Phase 4 134523-00-5 60823
2
Simvastatin Approved Phase 4 79902-63-9 54454
3
Metformin Approved Phase 4 657-24-9 14219 4091
4
Vildagliptin Approved, Investigational Phase 4 274901-16-5 6918537
5
Glyburide Approved Phase 4 10238-21-8 3488
6 Hypolipidemic Agents Phase 4
7 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
8 Lipid Regulating Agents Phase 4
9 Anticholesteremic Agents Phase 4
10 Antimetabolites Phase 4
11 Hypoglycemic Agents Phase 4
12 Dipeptidyl-Peptidase IV Inhibitors Phase 4
13
protease inhibitors Phase 4
14 HIV Protease Inhibitors Phase 4
15
Nicotinamide Approved, Investigational Phase 3 98-92-0 936
16
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
17
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
18 Vitamins Phase 3
19 Micronutrients Phase 3
20 Vitamin B Complex Phase 3
21 Vitamin B3 Phase 3
22 Nicotinic Acids Phase 3
23 Vasodilator Agents Phase 3
24 Folate Phase 3
25 Nutrients Phase 3
26 Trace Elements Phase 3
27 Vitamin B9 Phase 3
28 Antioxidants Phase 3
29 Protective Agents Phase 3
30
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
31
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
32
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
33 Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
34
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
35
Fenofibrate Approved Phase 2 49562-28-9 3339
36
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
37 Hormones Phase 1, Phase 2
38 Methylprednisolone Acetate Phase 1, Phase 2
39 glucocorticoids Phase 1, Phase 2
40 Hormone Antagonists Phase 1, Phase 2
41 Antineoplastic Agents, Hormonal Phase 1, Phase 2
42 Anti-Inflammatory Agents Phase 1, Phase 2
43 Gastrointestinal Agents Phase 1, Phase 2
44 Pharmaceutical Solutions Phase 1, Phase 2
45 Neuroprotective Agents Phase 1, Phase 2
46 Antiemetics Phase 1, Phase 2
47
Aluminum sulfate Approved Phase 1 10043-01-3
48 Vaccines Phase 1
49
Ethanol Approved 64-17-5 702
50
tannic acid Approved 1401-55-4

Interventional clinical trials:

(show all 28)
# 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 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
3 HDL-Atherosclerosis Treatment Study (HATS) Completed NCT00000553 Phase 3 simvastatin;niacin;antioxidants
4 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
5 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
6 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
7 A Multi-center, Three-staged With Interim Analyses, Parallel, Randomized, Double-blind, fenofibrate-and Placebo-controlled Proof of Concept and Dose-response Evaluation of the Safety, Tolerability, and Effects on Plasma High-density Lipoprotein Cholesterol (HDLc) and Triglycerides of Eight Weeks Treatment With GW501516 in Otherwise Healthy Patients With Low HDLc, Mildly to Moderately Elevated Triglycerides, and Normal Low-density Lipoprotein Cholesterol (LDLc) Completed NCT00158899 Phase 2 GW501516 oral tablets
8 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
9 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
10 A Pilot Study of a Lifestyle Intervention on the Metabolic Syndrome Unknown status NCT02233088
11 Type 2 Diabetes Mellitus Collaborative Genetic Study Room Unknown status NCT01250639
12 Comparison of LDL-P With LDLC From VAPII, NMR, and Ion Mobility Unknown status NCT02298894
13 Treatment Study for Severe High-Density Lipoprotein Deficiency Completed NCT00458055 Atorvastatin; Fenofibrate; Niacin
14 Nutritional Status of Residents From the Chinese National Health and Nutrition Survey During 2010-2012 Completed NCT03660527
15 Apolipoprotein A-I Gene Polymorphism and Atherosclerosis Completed NCT00005183
16 Quantitative Genetic Analysis of Lipid Research Clinic Family Data Completed NCT00005188
17 Sex Steroids, Obesity and Lipids in Adolescent Females Completed NCT00005210
18 Phase 1. Collect Samples of Breast Biopsy Patients Treated at the Hospital Radiology Service Maternal Perinatal Monica Pretelini Completed NCT01643148
19 Epidemiology of Coronary Heart Disease in Men Aged 40 and Over Completed NCT00069797
20 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
21 National Growth and Health Study (NGHS) Completed NCT00005132
22 USE OF KEFIR AS A CO-ADJUVANT IN THE TREATMENT OF METABOLIC SYNDROME COMPONENTS: a Double-blind, Randomized, Placebo Controlled Clinical Trial Completed NCT03649828
23 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
24 Effects of Exercise Training on Vascular Endothelial Function of Patients Submitted to Coronary Artery Bypass Graft Completed NCT02265107
25 Clinical and Brain Effects of Remote Web-based Adapted Physical Activity (e-APA) in Patients With Psychotic Disorders and Healthy Subjects: A Controlled, Multicenter Study Recruiting NCT03261817
26 Comparison of Dietary Sugar Reduction Methods Recruiting NCT04186793
27 MObile Technologies In the preVention of POSt-stroke DEPression Not yet recruiting NCT04043052
28 Evaluation of Ambulatory Blood Pressure Measurement Related Hemodynamic Biomarkers On the Progression of Heart Failure With Preserved Ejection Fraction Not yet recruiting NCT04065620

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
2 Hdl Deficiency, Type 2 29

Anatomical Context for Hypoalphalipoproteinemia, Primary, 1

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

40
Heart, Liver, Eye, Tonsil, Endothelial, Brain, Breast

Publications for Hypoalphalipoproteinemia, Primary, 1

Articles related to Hypoalphalipoproteinemia, Primary, 1:

(show top 50) (show all 64)
# Title Authors PMID Year
1
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. 6 56
10431236 1999
2
Severe familial HDL deficiency in French-Canadian kindreds. Clinical, biochemical, and molecular characterization. 6 56
7627690 1995
3
Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene. 6 61
8240372 1993
4
Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 6
22962670 2012
5
Novel ABCA1 compound variant associated with HDL cholesterol deficiency. 6
12009425 2002
6
Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease. 6
11476965 2001
7
Cellular cholesterol transport and efflux in fibroblasts are abnormal in subjects with familial HDL deficiency. 56
9888879 1999
8
National Cholesterol Education Program recommendations for measurement of high-density lipoprotein cholesterol: executive summary. The National Cholesterol Education Program Working Group on Lipoprotein Measurement. 56
7586512 1995
9
ATP-binding cassette transporter A1: A promising therapy target for prostate cancer. 61
29399345 2018
10
Effect of open-label infusion of an apoA-I-containing particle (CER-001) on RCT and artery wall thickness in patients with FHA. 61
25561459 2015
11
Treatment of low HDL-C subjects with the CETP modulator dalcetrapib increases plasma campesterol only in those without ABCA1 and/or ApoA1 mutations. 61
25281277 2014
12
A Comprehensive In Silico Analysis of the Functional and Structural Impact of Nonsynonymous SNPs in the ABCA1 Transporter Gene. 61
25215231 2014
13
Anticancer activity of the cholesterol exporter ABCA1 gene. 61
22981231 2012
14
Increased risk of coronary artery disease in Caucasians with extremely low HDL cholesterol due to mutations in ABCA1, APOA1, and LCAT. 61
21875686 2012
15
An ABCA1 truncation shows no dominant negative effect in a familial hypoalphalipoproteinemia pedigree with three ABCA1 mutations. 61
21575609 2011
16
Reduced fecal sterol excretion in subjects with familial hypoalphalipoproteinemia. 61
19616211 2009
17
Novel mutation in the ABCA1 gene identified in a chinese patient with dementia and atherothrombotic cerebral infarction. 61
18841006 2008
18
Genetic determinants of plasma lipoproteins. 61
17957207 2007
19
R219K polymorphism of ATP binding cassette transporter A1 related with low HDL in overweight/obese Thai males. 61
17923263 2007
20
Promoter haplotype of a new ABCA1 mutant influences expression of familial hypoalphalipoproteinemia. 61
16225879 2006
21
Specific mutations in ABCA1 have discrete effects on ABCA1 function and lipid phenotypes both in vivo and in vitro. 61
16873719 2006
22
ABCA1, ApoA-I and type II DM. 61
16009332 2005
23
Consequences of cholesteryl ester transfer protein inhibition in patients with familial hypoalphalipoproteinemia. 61
16127020 2005
24
[New aspects of normolipidemic dyslipoproteinemias]. 61
16107011 2004
25
Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders. 61
15019541 2004
26
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. 61
14576201 2003
27
Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene. 61
12763760 2003
28
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. 61
12870173 2003
29
The role of the ABCA1 transporter and cholesterol efflux in familial hypoalphalipoproteinemia. 61
12700344 2003
30
Restoration of endothelial function by increasing high-density lipoprotein in subjects with isolated low high-density lipoprotein. 61
12771001 2003
31
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. 61
12535741 2003
32
Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of the WHAM chicken. 61
12364545 2002
33
ABCA1(Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease. 61
12204794 2002
34
[Case of familial hypoalphalipoproteinemia, type 2 diabetes mellitus and markedly advanced atherosclerosis with ABCAlexon 4 minus transcript in macrophages]. 61
12373902 2002
35
ApoA-I(MALLORCA) impairs LCAT activation and induces dominant familial hypoalphalipoproteinemia. 61
11792730 2002
36
Increased plasma C-reactive protein in familial hypoalphalipoproteinemia: a proinflammatory condition? 61
11772869 2002
37
The human ATP binding cassette gene ABCA13, located on chromosome 7p12.3, encodes a 5058 amino acid protein with an extracellular domain encoded in part by a 4.8-kb conserved exon. 61
12697998 2002
38
Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34. 61
12697999 2002
39
Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes. 61
11086027 2000
40
Decreased cellular cholesterol efflux is a common cause of familial hypoalphalipoproteinemia: role of the ABCA1 gene mutations. 61
10998475 2000
41
Common and rare ABCA1 variants affecting plasma HDL cholesterol. 61
10938021 2000
42
Evidence of linkage of familial hypoalphalipoproteinemia to a novel locus on chromosome 11q23. 61
10775531 2000
43
Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population: a population-based survey. 61
9931341 1999
44
[Genetic aspects of primary atherogenic dyslipoproteinemia]. 61
8673636 1995
45
Familial lipoprotein disorders and premature coronary artery disease. 61
7802728 1994
46
Familial lipoprotein disorders and premature coronary artery disease. 61
8283932 1994
47
Familial hypoalphalipoproteinemia in premature coronary artery disease. 61
8241092 1993
48
A case report: familial hypoalphalipoproteinemia. 61
8348223 1993
49
In vivo metabolism of a mutant form of apolipoprotein A-I, apo A-IMilano, associated with familial hypoalphalipoproteinemia. 61
8473493 1993
50
Analysis of familial hypoalphalipoproteinemia syndromes. 61
1518505 1992

Variations for Hypoalphalipoproteinemia, Primary, 1

ClinVar genetic disease variations for Hypoalphalipoproteinemia, Primary, 1:

6 (show top 50) (show all 260) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCA1 NM_005502.4(ABCA1):c.2077_2079CTT[1] (p.Leu694del)short repeat Pathogenic 9486 rs387906412 9:107591230-107591232 9:104828949-104828951
2 ABCA1 NM_005502.4(ABCA1):c.3295G>T (p.Asp1099Tyr)SNV Pathogenic 9501 rs28933692 9:107581111-107581111 9:104818830-104818830
3 ABCA1 NM_005502.4(ABCA1):c.6026T>C (p.Phe2009Ser)SNV Pathogenic 9502 rs137854499 9:107550750-107550750 9:104788469-104788469
4 ABCA1 NM_005502.4(ABCA1):c.3849_3852del (p.Pro1284fs)deletion Pathogenic 9504 rs387906415 9:107576448-107576451 9:104814167-104814170
5 APOA1 NM_001318021.1(APOA1):c.-240-9dupduplication Likely pathogenic 504196 rs753348565 11:116707831-116707832 11:116837115-116837116
6 ABCA1 NM_005502.4(ABCA1):c.5192C>G (p.Ser1731Cys)SNV Conflicting interpretations of pathogenicity 632032 rs760507032 9:107558635-107558635 9:104796354-104796354
7 ABCA1 NM_005502.4(ABCA1):c.*1790C>TSNV Conflicting interpretations of pathogenicity 912627 9:107544806-107544806 9:104782525-104782525
8 ABCA1 NM_005502.4(ABCA1):c.*1154C>ASNV Conflicting interpretations of pathogenicity 912666 9:107545442-107545442 9:104783161-104783161
9 ABCA1 NM_005502.4(ABCA1):c.*874G>ASNV Conflicting interpretations of pathogenicity 913772 9:107545722-107545722 9:104783441-104783441
10 ABCA1 NM_005502.4(ABCA1):c.*406T>CSNV Conflicting interpretations of pathogenicity 914674 9:107546190-107546190 9:104783909-104783909
11 ABCA1 NM_005502.4(ABCA1):c.6083C>T (p.Ala2028Val)SNV Conflicting interpretations of pathogenicity 913117 9:107550322-107550322 9:104788041-104788041
12 ABCA1 NM_005502.4(ABCA1):c.5649A>G (p.Ala1883=)SNV Conflicting interpretations of pathogenicity 914263 9:107555175-107555175 9:104792894-104792894
13 ABCA1 NM_005502.4(ABCA1):c.4764T>C (p.Asn1588=)SNV Conflicting interpretations of pathogenicity 913166 9:107562800-107562800 9:104800519-104800519
14 ABCA1 NM_005502.4(ABCA1):c.5245A>G (p.Ile1749Val)SNV Conflicting interpretations of pathogenicity 912803 9:107558471-107558471 9:104796190-104796190
15 ABCA1 NM_005502.4(ABCA1):c.2235G>T (p.Leu745=)SNV Conflicting interpretations of pathogenicity 914934 9:107589331-107589331 9:104827050-104827050
16 ABCA1 NM_005502.4(ABCA1):c.1695G>C (p.Arg565Ser)SNV Conflicting interpretations of pathogenicity 914472 9:107593923-107593923 9:104831642-104831642
17 ABCA1 NM_005502.4(ABCA1):c.1636A>G (p.Ile546Val)SNV Conflicting interpretations of pathogenicity 914473 9:107593982-107593982 9:104831701-104831701
18 ABCA1 NM_005502.4(ABCA1):c.1377A>C (p.Thr459=)SNV Conflicting interpretations of pathogenicity 913028 9:107594987-107594987 9:104832706-104832706
19 ABCA1 NM_005502.4(ABCA1):c.1338C>G (p.Asp446Glu)SNV Conflicting interpretations of pathogenicity 913029 9:107595026-107595026 9:104832745-104832745
20 ABCA1 NM_005502.4(ABCA1):c.1201A>C (p.Lys401Gln)SNV Conflicting interpretations of pathogenicity 913396 9:107599371-107599371 9:104837090-104837090
21 ABCA1 NM_005502.4(ABCA1):c.*3087C>TSNV Conflicting interpretations of pathogenicity 364324 rs190539368 9:107543509-107543509 9:104781228-104781228
22 ABCA1 NM_005502.4(ABCA1):c.2660G>T (p.Cys887Phe)SNV Conflicting interpretations of pathogenicity 225290 rs187652566 9:107584945-107584945 9:104822664-104822664
23 ABCA1 NM_005502.4(ABCA1):c.*1260C>GSNV Conflicting interpretations of pathogenicity 364356 rs148609447 9:107545336-107545336 9:104783055-104783055
24 ABCA1 NM_005502.4(ABCA1):c.*1218A>GSNV Conflicting interpretations of pathogenicity 364357 rs528656411 9:107545378-107545378 9:104783097-104783097
25 ABCA1 NM_005502.4(ABCA1):c.*1211G>ASNV Conflicting interpretations of pathogenicity 364358 rs547220092 9:107545385-107545385 9:104783104-104783104
26 ABCA1 NM_005502.4(ABCA1):c.3103+3G>ASNV Conflicting interpretations of pathogenicity 914884 9:107582205-107582205 9:104819924-104819924
27 ABCA1 NM_005502.4(ABCA1):c.720+12T>CSNV Conflicting interpretations of pathogenicity 915034 9:107620791-107620791 9:104858510-104858510
28 ABCA1 NM_005502.4(ABCA1):c.551T>C (p.Leu184Ser)SNV Conflicting interpretations of pathogenicity 913436 9:107620972-107620972 9:104858691-104858691
29 ABCA1 NM_005502.4(ABCA1):c.6308+4C>TSNV Conflicting interpretations of pathogenicity 912754 9:107549150-107549150 9:104786869-104786869
30 ABCA1 NM_005502.4(ABCA1):c.*368A>GSNV Conflicting interpretations of pathogenicity 364368 rs13306080 9:107546228-107546228 9:104783947-104783947
31 ABCA1 NM_005502.4(ABCA1):c.4195A>T (p.Thr1399Ser)SNV Conflicting interpretations of pathogenicity 364404 rs538614702 9:107571826-107571826 9:104809545-104809545
32 ABCA1 NM_005502.4(ABCA1):c.3544G>A (p.Ala1182Thr)SNV Conflicting interpretations of pathogenicity 364414 rs143180998 9:107578618-107578618 9:104816337-104816337
33 ABCA1 NM_005502.4(ABCA1):c.*2089G>ASNV Conflicting interpretations of pathogenicity 364337 rs146353431 9:107544507-107544507 9:104782226-104782226
34 ABCA1 NM_005502.4(ABCA1):c.*1768T>ASNV Conflicting interpretations of pathogenicity 364342 rs535255845 9:107544828-107544828 9:104782547-104782547
35 ABCA1 NM_005502.4(ABCA1):c.*1767G>TSNV Conflicting interpretations of pathogenicity 364343 rs547281385 9:107544829-107544829 9:104782548-104782548
36 ABCA1 NM_005502.4(ABCA1):c.6184G>A (p.Gly2062Arg)SNV Conflicting interpretations of pathogenicity 364380 rs752051518 9:107550221-107550221 9:104787940-104787940
37 ABCA1 NM_005502.4(ABCA1):c.5757+12C>TSNV Conflicting interpretations of pathogenicity 364387 rs769533549 9:107555055-107555055 9:104792774-104792774
38 ABCA1 NM_005502.4(ABCA1):c.5376C>T (p.Thr1792=)SNV Conflicting interpretations of pathogenicity 364392 rs13306077 9:107558340-107558340 9:104796059-104796059
39 ABCA1 NM_005502.4(ABCA1):c.5019C>T (p.Val1673=)SNV Conflicting interpretations of pathogenicity 364397 rs371136175 9:107560804-107560804 9:104798523-104798523
40 ABCA1 NM_005502.4(ABCA1):c.*2907A>CSNV Conflicting interpretations of pathogenicity 364327 rs551547276 9:107543689-107543689 9:104781408-104781408
41 ABCA1 NM_005502.4(ABCA1):c.*2611A>GSNV Conflicting interpretations of pathogenicity 364331 rs572043133 9:107543985-107543985 9:104781704-104781704
42 ABCA1 NM_005502.4(ABCA1):c.*19G>TSNV Conflicting interpretations of pathogenicity 364375 rs368288959 9:107546577-107546577 9:104784296-104784296
43 ABCA1 NM_005502.4(ABCA1):c.3726G>A (p.Thr1242=)SNV Conflicting interpretations of pathogenicity 364411 rs548468204 9:107578436-107578436 9:104816155-104816155
44 ABCA1 NM_005502.4(ABCA1):c.3099G>C (p.Leu1033=)SNV Conflicting interpretations of pathogenicity 364422 rs144726669 9:107582212-107582212 9:104819931-104819931
45 ABCA1 NM_005502.4(ABCA1):c.*2486T>CSNV Conflicting interpretations of pathogenicity 364332 rs539455164 9:107544110-107544110 9:104781829-104781829
46 ABCA1 NM_005502.4(ABCA1):c.*2409T>CSNV Conflicting interpretations of pathogenicity 364334 rs557529420 9:107544187-107544187 9:104781906-104781906
47 ABCA1 NM_005502.4(ABCA1):c.1996C>T (p.Arg666Trp)SNV Conflicting interpretations of pathogenicity 364439 rs201599169 9:107591316-107591316 9:104829035-104829035
48 ABCA1 NM_005502.4(ABCA1):c.302+15A>TSNV Conflicting interpretations of pathogenicity 364463 rs200532064 9:107646693-107646693 9:104884412-104884412
49 ABCA1 NM_005502.4(ABCA1):c.*1476A>GSNV Conflicting interpretations of pathogenicity 364348 rs537176920 9:107545120-107545120 9:104782839-104782839
50 ABCA1 NM_005502.4(ABCA1):c.4161G>A (p.Gln1387=)SNV Conflicting interpretations of pathogenicity 364405 rs200409979 9:107573095-107573095 9:104810814-104810814

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

73
# 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

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Pathways for Hypoalphalipoproteinemia, Primary, 1

GO Terms for Hypoalphalipoproteinemia, Primary, 1

Sources for Hypoalphalipoproteinemia, Primary, 1

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