FHA1
MCID: HYP841
MIFTS: 49

Hypoalphalipoproteinemia, Primary, 1 (FHA1)

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 73
Familial Hypoalphalipoproteinemia 43 73 29 6
Familial Hdl Deficiency 57 20 43 73
Fha 57 20 43 73
High Density Lipoprotein Deficiency 57 20 6
Hdl Deficiency, Type 2 43 29 13
Hdld 57 20 43
Fhd 57 20 73
Hypoalphalipoproteinemia, Familial 57 20
High Density Lipoprotein Deficiency; Hdld 57
Hypoalphalipoproteinemia, Familial; Fha 57
High Density Lipoprotein Deficiency 2 73
Hypoalphalipoproteinemia, Primary 20
Hdl Cholesterol, Low Serum; Hdlc 57
Primary Hypoalphalipoproteinemia 43
Familial Hdl Deficiency; Fhd 57
Hdl Deficiency, Familial, 1 57
Hdl Cholesterol, Low Serum 57
Low Serum Hdl Cholesterol 43
Hypoalphalipoproteinemias 44
Hdld2 73
Hdlc 57
Fha1 73

Characteristics:

HPO:

31
hypoalphalipoproteinemia, primary, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 604091
MeSH 44 D052456
SNOMED-CT via HPO 68 190785000 22298006 263681008

Summaries for Hypoalphalipoproteinemia, Primary, 1

MedlinePlus Genetics : 43 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 tangier disease. An important gene associated with Hypoalphalipoproteinemia, Primary, 1 is ABCA1 (ATP Binding Cassette Subfamily A Member 1), and among its related pathways/superpathways are Lipoprotein metabolism and Folate Metabolism. The drugs Nicotinamide and Folic acid have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and endothelial, and related phenotypes are premature coronary artery atherosclerosis and myocardial infarction

GARD : 20 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) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Hypoalphalipoproteinemia, primary, 1: An autosomal dominant disorder characterized by decreased plasma high density lipoproteins, moderately low HDL cholesterol, a reduction in cellular cholesterol efflux, and susceptibility to premature coronary artery disease.

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 112)
# Related Disease Score Top Affiliating Genes
1 hypoalphalipoproteinemia, primary, 2 31.3 APOA1-AS APOA1 ABCA1
2 tangier disease 30.8 APOA1-AS APOA1 ABCA1
3 hypolipoproteinemia 29.9 APOA1 ABCA1
4 atherosclerosis susceptibility 29.6 APOA1 ABCA1
5 hypoalphalipoproteinemia 29.3 APOA1 ABCA1
6 lipid metabolism disorder 29.2 APOA1 ABCA1
7 cerebrovascular disease 29.2 APOA1 ABCA1
8 high density lipoprotein cholesterol level quantitative trait locus 1 11.3
9 abdominal obesity-metabolic syndrome 1 10.9
10 pertussis 10.6
11 fish-eye disease 10.4
12 eye disease 10.4
13 hypertriglyceridemia, familial 10.4
14 coronary heart disease 1 10.4
15 peripheral nervous system disease 10.2
16 neuropathy 10.2
17 splenomegaly 10.2
18 lecithin:cholesterol acyltransferase deficiency 10.2
19 tetanus 10.1
20 diphtheria 10.1
21 hutchinson-gilford progeria syndrome 10.1
22 leprosy 3 10.1
23 major depressive disorder 10.1
24 erythema nodosum 10.1
25 lepromatous leprosy 10.1
26 mental depression 10.1
27 severe combined immunodeficiency 10.1
28 hansen's disease 10.1
29 depression 10.1
30 nijmegen breakage syndrome 10.1
31 amenorrhea 10.1
32 type 2 diabetes mellitus 10.0
33 arteries, anomalies of 10.0
34 hyperalphalipoproteinemia 1 10.0
35 hypercholesterolemia, familial, 1 10.0
36 storage pool platelet disease 10.0
37 thrombophilia due to thrombin defect 10.0
38 abetalipoproteinemia 10.0
39 chediak-higashi syndrome 10.0
40 lymphoma, hodgkin, classic 10.0
41 huntington disease-like 3 10.0
42 lymphoma, non-hodgkin, familial 10.0
43 myocardial infarction 10.0
44 lipoprotein quantitative trait locus 10.0
45 thrombosis 10.0
46 heart disease 10.0
47 thrombocytopenia 10.0
48 coronary stenosis 10.0
49 apo a-i deficiency 10.0
50 familial lcat deficiency 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 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Hypoalphalipoproteinemia, Primary, 1 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

Drugs & Therapeutics for Hypoalphalipoproteinemia, Primary, 1

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
2
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
3
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
4 Micronutrients Phase 4
5 Nutrients Phase 4
6 Trace Elements Phase 4
7 Vitamin B Complex Phase 4
8 Vitamin B3 Phase 4
9 Vitamins Phase 4
10 Nicotinic Acids Phase 4
11 Hypolipidemic Agents Phase 4
12 Antimetabolites Phase 4
13 Lipid Regulating Agents Phase 4
14 Folate Phase 4
15 Vitamin B9 Phase 4
16 Vasodilator Agents Phase 4
17
Fenofibrate Approved Phase 2 49562-28-9 3339
18
Aluminum sulfate Approved Phase 1 10043-01-3
19 Vaccines Phase 1
20
Atorvastatin Approved 134523-00-5 60823
21
Lycopene Approved, Investigational 502-65-8 446925
22 Tomato Approved
23 Hydroxymethylglutaryl-CoA Reductase Inhibitors
24 Clofibric Acid 882-09-7
25 Anticholesteremic Agents

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Short-term Effect of Extended-release Niacin With and Without the Addition of Laropiprant on Endothelial Function Completed NCT01942291 Phase 4 Niacin
2 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
3 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
4 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
5 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
6 Role of Intermittent Fasting in Improving High Density Lipoprotein Cholesterol Unknown status NCT03805776
7 Treatment Study for Severe High-Density Lipoprotein Deficiency Completed NCT00458055 Atorvastatin; Fenofibrate; Niacin
8 Effect of Tomato Consumption on Serum High Density Lipoprotein-cholesterol Levels. A Randomized, Open-label, Single Blind, Clinical Trial Completed NCT01342666
9 MObile Technologies In the preVention of POSt-stroke DEPression Recruiting NCT04043052
10 Comparison of the Relationship Between Age and Serum Paraoxonase /Arylesterase Activity of Patients With Acute Coronary Syndrome Presenting to the Emergency Department'' Recruiting NCT04243876
11 Habitual Diet and Avocado Trial Recruiting NCT03528031

Search NIH Clinical Center for Hypoalphalipoproteinemia, Primary, 1

Cochrane evidence based reviews: hypoalphalipoproteinemias

Genetic Tests for Hypoalphalipoproteinemia, Primary, 1

Genetic tests related to Hypoalphalipoproteinemia, Primary, 1:

# Genetic test Affiliating Genes
1 Familial Hypoalphalipoproteinemia 29 ABCA1
2 Hdl Deficiency, Type 2 29

Anatomical Context for Hypoalphalipoproteinemia, Primary, 1

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

40
Liver, Eye, Endothelial, Heart, Prostate

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 57
10431236 1999
2
Severe familial HDL deficiency in French-Canadian kindreds. Clinical, biochemical, and molecular characterization. 57 6
7627690 1995
3
Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population: a population-based survey. 61 6
9931341 1999
4
Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene. 61 6
8240372 1993
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. 57
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. 57
7586512 1995
9
No benefit of HDL mimetic CER-001 on carotid atherosclerosis in patients with genetically determined very low HDL levels. 61
32919280 2020
10
ATP-binding cassette transporter A1: A promising therapy target for prostate cancer. 61
29399345 2018
11
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
12
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
13
A Comprehensive In Silico Analysis of the Functional and Structural Impact of Nonsynonymous SNPs in the ABCA1 Transporter Gene. 61
25215231 2014
14
Anticancer activity of the cholesterol exporter ABCA1 gene. 61
22981231 2012
15
Increased risk of coronary artery disease in Caucasians with extremely low HDL cholesterol due to mutations in ABCA1, APOA1, and LCAT. 61
21875686 2012
16
An ABCA1 truncation shows no dominant negative effect in a familial hypoalphalipoproteinemia pedigree with three ABCA1 mutations. 61
21575609 2011
17
Reduced fecal sterol excretion in subjects with familial hypoalphalipoproteinemia. 61
19616211 2009
18
Novel mutation in the ABCA1 gene identified in a chinese patient with dementia and atherothrombotic cerebral infarction. 61
18841006 2008
19
Genetic determinants of plasma lipoproteins. 61
17957207 2007
20
R219K polymorphism of ATP binding cassette transporter A1 related with low HDL in overweight/obese Thai males. 61
17923263 2007
21
Promoter haplotype of a new ABCA1 mutant influences expression of familial hypoalphalipoproteinemia. 61
16225879 2006
22
Specific mutations in ABCA1 have discrete effects on ABCA1 function and lipid phenotypes both in vivo and in vitro. 61
16873719 2006
23
ABCA1, ApoA-I and type II DM. 61
16009332 2005
24
Consequences of cholesteryl ester transfer protein inhibition in patients with familial hypoalphalipoproteinemia. 61
16127020 2005
25
[New aspects of normolipidemic dyslipoproteinemias]. 61
16107011 2004
26
Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders. 61
15019541 2004
27
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
28
Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene. 61
12763760 2003
29
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
30
The role of the ABCA1 transporter and cholesterol efflux in familial hypoalphalipoproteinemia. 61
12700344 2003
31
Restoration of endothelial function by increasing high-density lipoprotein in subjects with isolated low high-density lipoprotein. 61
12771001 2003
32
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
33
Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of the WHAM chicken. 61
12364545 2002
34
ABCA1(Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease. 61
12204794 2002
35
[Case of familial hypoalphalipoproteinemia, type 2 diabetes mellitus and markedly advanced atherosclerosis with ABCAlexon 4 minus transcript in macrophages]. 61
12373902 2002
36
Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34. 61
12697999 2002
37
ApoA-I(MALLORCA) impairs LCAT activation and induces dominant familial hypoalphalipoproteinemia. 61
11792730 2002
38
Increased plasma C-reactive protein in familial hypoalphalipoproteinemia: a proinflammatory condition? 61
11772869 2002
39
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
40
Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes. 61
11086027 2000
41
Decreased cellular cholesterol efflux is a common cause of familial hypoalphalipoproteinemia: role of the ABCA1 gene mutations. 61
10998475 2000
42
Common and rare ABCA1 variants affecting plasma HDL cholesterol. 61
10938021 2000
43
Evidence of linkage of familial hypoalphalipoproteinemia to a novel locus on chromosome 11q23. 61
10775531 2000
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
In vivo metabolism of a mutant form of apolipoprotein A-I, apo A-IMilano, associated with familial hypoalphalipoproteinemia. 61
8473493 1993
49
A case report: familial hypoalphalipoproteinemia. 61
8348223 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 261)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCA1 NM_005502.4(ABCA1):c.3295G>T (p.Asp1099Tyr) SNV Pathogenic 9501 rs28933692 9:107581111-107581111 9:104818830-104818830
2 ABCA1 NM_005502.4(ABCA1):c.6026T>C (p.Phe2009Ser) SNV Pathogenic 9502 rs137854499 9:107550750-107550750 9:104788469-104788469
3 APOA1-AS NM_001318021.1(APOA1):c.-240-9dup Duplication Pathogenic 504196 rs753348565 11:116707831-116707832 11:116837115-116837116
4 ABCA1 NM_005502.4(ABCA1):c.5192C>G (p.Ser1731Cys) SNV Pathogenic 632032 rs760507032 9:107558635-107558635 9:104796354-104796354
5 APOA1 APOA1, IVS2, G-C, +1 SNV Pathogenic 17930
6 ABCA1 NM_005502.4(ABCA1):c.2077_2079CTT[1] (p.Leu694del) Microsatellite Pathogenic 9486 rs387906412 9:107591230-107591232 9:104828949-104828951
7 ABCA1 NM_005502.4(ABCA1):c.3849_3852del (p.Pro1284fs) Deletion Pathogenic 9504 rs387906415 9:107576448-107576451 9:104814167-104814170
8 ABCA1 NM_005502.4(ABCA1):c.1537A>G (p.Ile513Val) SNV Uncertain significance 914982 9:107594081-107594081 9:104831800-104831800
9 ABCA1 NM_005502.4(ABCA1):c.1467C>T (p.Asn489=) SNV Uncertain significance 914983 9:107594897-107594897 9:104832616-104832616
10 ABCA1 NM_005502.4(ABCA1):c.-188G>C SNV Uncertain significance 915109 9:107690311-107690311 9:104928030-104928030
11 ABCA1 NM_005502.4(ABCA1):c.-194C>T SNV Uncertain significance 915110 9:107690317-107690317 9:104928036-104928036
12 ABCA1 NM_005502.4(ABCA1):c.*3208T>A SNV Uncertain significance 915227 9:107543388-107543388 9:104781107-104781107
13 ABCA1 NM_005502.4(ABCA1):c.*3187A>G SNV Uncertain significance 915228 9:107543409-107543409 9:104781128-104781128
14 ABCA1 NM_005502.4(ABCA1):c.6440G>T (p.Gly2147Val) SNV Uncertain significance 914708 9:107547882-107547882 9:104785601-104785601
15 ABCA1 NM_005502.4(ABCA1):c.5416G>A (p.Val1806Met) SNV Uncertain significance 914764 9:107556758-107556758 9:104794477-104794477
16 ABCA1 NM_005502.4(ABCA1):c.4357A>G (p.Asn1453Asp) SNV Uncertain significance 914808 9:107568629-107568629 9:104806348-104806348
17 ABCA1 NM_005502.4(ABCA1):c.*1222C>T SNV Uncertain significance 914629 9:107545374-107545374 9:104783093-104783093
18 APOA1-AS NM_000039.2(APOA1):c.41C>T (p.Thr14Met) SNV Uncertain significance 632642 rs778560581 11:116708063-116708063 11:116837347-116837347
19 ABCA1 NM_005502.4(ABCA1):c.68G>A (p.Cys23Tyr) SNV Uncertain significance 912355 9:107651475-107651475 9:104889194-104889194
20 ABCA1 NM_005502.4(ABCA1):c.-281C>A SNV Uncertain significance 912412 9:107690404-107690404 9:104928123-104928123
21 ABCA1 NM_005502.4(ABCA1):c.*2988C>T SNV Uncertain significance 912532 9:107543608-107543608 9:104781327-104781327
22 ABCA1 NM_005502.4(ABCA1):c.*2371A>G SNV Uncertain significance 912581 9:107544225-107544225 9:104781944-104781944
23 ABCA1 NM_005502.4(ABCA1):c.*2330A>T SNV Uncertain significance 912582 9:107544266-107544266 9:104781985-104781985
24 ABCA1 NM_005502.4(ABCA1):c.2988C>G (p.Phe996Leu) SNV Uncertain significance 364424 rs886063310 9:107582323-107582323 9:104820042-104820042
25 ABCA1 NM_005502.4(ABCA1):c.-141C>G SNV Uncertain significance 364476 rs886063314 9:107690264-107690264 9:104927983-104927983
26 APOA1 NM_000039.3(APOA1):c.705C>G (p.Leu235=) SNV Uncertain significance 877609 11:116706623-116706623 11:116835907-116835907
27 APOA1-AS NM_000039.3(APOA1):c.-29G>A SNV Uncertain significance 877657 11:116708329-116708329 11:116837613-116837613
28 APOA1 NM_000039.3(APOA1):c.677C>T (p.Thr226Met) SNV Uncertain significance 878622 11:116706651-116706651 11:116835935-116835935
29 APOA1-AS NM_000039.3(APOA1):c.447G>A (p.Glu149=) SNV Uncertain significance 879222 11:116706881-116706881 11:116836165-116836165
30 ABCA1 NM_005502.4(ABCA1):c.*1031T>C SNV Uncertain significance 912667 9:107545565-107545565 9:104783284-104783284
31 ABCA1 NM_005502.4(ABCA1):c.*398A>G SNV Uncertain significance 912705 9:107546198-107546198 9:104783917-104783917
32 ABCA1 NM_005502.4(ABCA1):c.*379C>T SNV Uncertain significance 912706 9:107546217-107546217 9:104783936-104783936
33 ABCA1 NM_005502.4(ABCA1):c.5237+6T>C SNV Uncertain significance 912804 9:107558584-107558584 9:104796303-104796303
34 ABCA1 NM_005502.4(ABCA1):c.5201A>G (p.Asn1734Ser) SNV Uncertain significance 912805 9:107558626-107558626 9:104796345-104796345
35 ABCA1 NM_005502.4(ABCA1):c.4324C>A (p.Pro1442Thr) SNV Uncertain significance 912845 9:107568662-107568662 9:104806381-104806381
36 ABCA1 NM_005502.4(ABCA1):c.4320A>G (p.Pro1440=) SNV Uncertain significance 912846 9:107568666-107568666 9:104806385-104806385
37 ABCA1 NM_005502.4(ABCA1):c.3715A>G (p.Ile1239Val) SNV Uncertain significance 912890 9:107578447-107578447 9:104816166-104816166
38 ABCA1 NM_005502.4(ABCA1):c.3554A>G (p.Asn1185Ser) SNV Uncertain significance 912891 9:107578608-107578608 9:104816327-104816327
39 ABCA1 NM_005502.4(ABCA1):c.2903T>C (p.Met968Thr) SNV Uncertain significance 912936 9:107583713-107583713 9:104821432-104821432
40 ABCA1 NM_005502.4(ABCA1):c.*1773A>C SNV Uncertain significance 912628 9:107544823-107544823 9:104782542-104782542
41 ABCA1 NM_005502.4(ABCA1):c.*1173C>T SNV Uncertain significance 912665 9:107545423-107545423 9:104783142-104783142
42 ABCA1 NM_005502.4(ABCA1):c.1295A>T (p.Glu432Val) SNV Uncertain significance 913030 9:107599277-107599277 9:104836996-104836996
43 ABCA1 NM_005502.4(ABCA1):c.1259G>A (p.Ser420Asn) SNV Uncertain significance 913031 9:107599313-107599313 9:104837032-104837032
44 ABCA1 NM_005502.4(ABCA1):c.*329T>C SNV Uncertain significance 913070 9:107546267-107546267 9:104783986-104783986
45 ABCA1 NM_005502.4(ABCA1):c.4196C>T (p.Thr1399Met) SNV Uncertain significance 913219 9:107571825-107571825 9:104809544-104809544
46 ABCA1 NM_005502.4(ABCA1):c.4194C>T (p.Asp1398=) SNV Uncertain significance 913220 9:107571827-107571827 9:104809546-104809546
47 ABCA1 NM_005502.4(ABCA1):c.1827G>A (p.Thr609=) SNV Uncertain significance 913347 9:107593271-107593271 9:104830990-104830990
48 ABCA1 NM_005502.4(ABCA1):c.1091C>G (p.Ser364Cys) SNV Uncertain significance 913397 9:107599812-107599812 9:104837531-104837531
49 ABCA1 NM_005502.4(ABCA1):c.*2002A>C SNV Uncertain significance 913683 9:107544594-107544594 9:104782313-104782313
50 ABCA1 NM_005502.4(ABCA1):c.*1970G>C SNV Uncertain significance 913684 9:107544626-107544626 9:104782345-104782345

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

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 endocytic vesicle GO:0030139 8.62 APOA1 ABCA1

Biological processes related to Hypoalphalipoproteinemia, Primary, 1 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.58 APOA1 ABCA1
2 lipid transport GO:0006869 9.58 APOA1 ABCA1
3 steroid metabolic process GO:0008202 9.57 APOA1 ABCA1
4 cholesterol metabolic process GO:0008203 9.56 APOA1 ABCA1
5 cholesterol homeostasis GO:0042632 9.55 APOA1 ABCA1
6 regulation of lipid metabolic process GO:0019216 9.54 APOA1 ABCA1
7 response to nutrient GO:0007584 9.52 APOA1 ABCA1
8 intermembrane lipid transfer GO:0120009 9.51 APOA1 ABCA1
9 phospholipid transport GO:0015914 9.49 APOA1 ABCA1
10 cholesterol efflux GO:0033344 9.48 APOA1 ABCA1
11 lipoprotein metabolic process GO:0042157 9.46 APOA1 ABCA1
12 cholesterol transport GO:0030301 9.43 APOA1 ABCA1
13 positive regulation of cholesterol efflux GO:0010875 9.4 APOA1 ABCA1
14 reverse cholesterol transport GO:0043691 9.37 APOA1 ABCA1
15 phospholipid homeostasis GO:0055091 9.32 APOA1 ABCA1
16 high-density lipoprotein particle assembly GO:0034380 9.26 APOA1 ABCA1
17 phospholipid efflux GO:0033700 9.16 APOA1 ABCA1
18 regulation of Cdc42 protein signal transduction GO:0032489 8.96 APOA1 ABCA1
19 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 cholesterol binding GO:0015485 9.32 APOA1 ABCA1
2 phosphatidylcholine binding GO:0031210 9.26 APOA1 ABCA1
3 lipid transporter activity GO:0005319 9.16 APOA1 ABCA1
4 intermembrane cholesterol transfer activity GO:0120020 8.96 APOA1 ABCA1
5 high-density lipoprotein particle binding GO:0008035 8.62 APOA1 ABCA1

Sources for Hypoalphalipoproteinemia, Primary, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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