FHA2
MCID: HYP843
MIFTS: 59

Hypoalphalipoproteinemia, Primary, 2 (FHA2)

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases
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Aliases & Classifications for Hypoalphalipoproteinemia, Primary, 2

MalaCards integrated aliases for Hypoalphalipoproteinemia, Primary, 2:

Name: Hypoalphalipoproteinemia, Primary, 2 57 73 28 5
Apolipoprotein a-I Deficiency 57 11 58 5
Hypoalphalipoproteinemia, Primary, 2, Autosomal Recessive 57 73
Primary Hypoalphalipoproteinemia 2 11 14
High Density Lipoprotein Deficiency 57
Familial Hypoalphalipoproteinemia 58
Familial Apoa-I Deficiency 58
Apolipoprotein a-I 5
Apoa-I Deficiency 58
Fha2 73

Characteristics:


Inheritance:

Hypoalphalipoproteinemia, Primary, 2: Autosomal recessive 57
Apolipoprotein a-I Deficiency: Autosomal dominant 58

Prevelance:

Apolipoprotein a-I Deficiency: <1/1000000 (Worldwide, Europe) 58

Age Of Onset:

Apolipoprotein a-I Deficiency: All ages 58

Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare endocrine diseases


External Ids:

Disease Ontology 11 DOID:0080958
OMIM® 57 618463
MeSH 43 D052456
MESH via Orphanet 44 D052456
ICD10 via Orphanet 32 E78.6
UMLS via Orphanet 72 C0342898 C1704429
Orphanet 58 ORPHA425

Summaries for Hypoalphalipoproteinemia, Primary, 2

OMIM®: 57 Primary hypoalphalipoproteinemia-2 is an autosomal recessive disorder 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). The disorder is associated with extensive atherosclerosis, xanthomas, and corneal opacities (summary by Tanaka et al., 2018). For a discussion of genetic heterogeneity of primary hypoalphalipoproteinemia, see 604091. (618463) (Updated 08-Dec-2022)

MalaCards based summary: Hypoalphalipoproteinemia, Primary, 2, also known as apolipoprotein a-i deficiency, is related to tangier disease and hypoalphalipoproteinemia, primary, 1. An important gene associated with Hypoalphalipoproteinemia, Primary, 2 is APOA1 (Apolipoprotein A1), and among its related pathways/superpathways are Metabolism and Transport of inorganic cations/anions and amino acids/oligopeptides. The drugs Atorvastatin and Nicotinamide have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and liver, and related phenotypes are opacification of the corneal stroma and decreased hdl cholesterol concentration

Disease Ontology: 11 A hypolipoproteinemia that is 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, is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities, and that has material basis in homozygous, compound heterozygous, or heterozygous mutation in the APOA1 gene on chromosome 11q23.

UniProtKB/Swiss-Prot: 73 An autosomal recessive disorder of lipoprotein metabolism, biochemically characterized by severe apoA-I deficiency and severely reduced serum high-density lipoprotein cholesterol (HDL-C). Affected individuals have undetectable serum levels of apoA-I, and develop xanthomas and corneal opacities. The disease is generally associated with atherosclerosis and markedly increased cardiovascular risk.

Orphanet: 58 A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).

Related Diseases for Hypoalphalipoproteinemia, Primary, 2

Diseases in the Hypoalphalipoproteinemia family:

Hypoalphalipoproteinemia, Primary, 1 Hypoalphalipoproteinemia, Primary, 2
Hypoalphalipoproteinemia, Primary, 2, Intermediate

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

(show top 50) (show all 431)
# Related Disease Score Top Affiliating Genes
1 tangier disease 31.5 LPA LCAT CETP APOB APOA2 APOA1-AS
2 hypoalphalipoproteinemia, primary, 1 31.1 LPA LCAT CETP APOC3 APOB APOA2
3 amyloidosis, familial visceral 30.9 LPA APOC3 APOA4 APOA2 APOA1-AS APOA1
4 fish-eye disease 30.7 LCAT APOA2 APOA1
5 hypolipoproteinemia 30.7 LPA LCAT CETP APOC3 APOB APOA2
6 hypoalphalipoproteinemia 30.7 LCAT CETP APOC3 APOB APOA2 APOA1
7 polyneuropathy 30.3 APOA2 APOA1 ABCA1
8 immunoglobulin light chain amyloidosis 30.2 APOA2 APOA1
9 acute myocardial infarction 30.1 PON1 LPA APOB APOA1
10 fatty liver disease 30.1 APOC3 APOB APOA1
11 amyloidosis, hereditary, transthyretin-related 30.1 APOA2 APOA1
12 amyloidosis 30.0 LPA APOA2 APOA1
13 intermediate coronary syndrome 30.0 APOB APOA1
14 hyperlipoproteinemia, type i 29.9 APOC3 APOB APOA1
15 non-alcoholic fatty liver disease 29.9 CETP APOC3 APOB APOA1
16 serum amyloid a amyloidosis 29.9 LCAT APOA1
17 familial lipoprotein lipase deficiency 29.9 APOC3 APOB APOA1
18 uremia 29.8 PON1 LCAT APOC3
19 alagille syndrome 1 29.7 LCAT APOA1
20 hypertriglyceridemia 1 29.7 CETP APOC3 APOB APOA2 APOA1
21 stroke, ischemic 29.7 PON1 LPA APOB ABCA1
22 arteriosclerosis 29.7 PON1 LPA APOB APOA1
23 aortic atherosclerosis 29.6 CETP APOB APOA2 APOA1 ABCA1
24 lecithin:cholesterol acyltransferase deficiency 29.6 LPA LCAT CETP APOB APOA2 APOA1
25 arcus corneae 29.6 LPA LCAT APOB APOA1
26 niemann-pick disease 29.5 LCAT APOB ABCA1
27 prediabetes syndrome 29.5 CETP APOB APOA1
28 hyperlipoproteinemia, type iii 29.5 LPA CETP APOB APOA1
29 abetalipoproteinemia 29.5 LCAT CETP APOB APOA1
30 hyperlipoproteinemia, type iv 29.4 CETP APOC3 APOB APOA1
31 vascular disease 29.4 PON1 LPA CETP APOB APOA2 APOA1
32 coronary stenosis 29.4 PON1 CETP APOB APOA1
33 hypercholesterolemia, familial, 1 29.3 LPA LCAT CETP APOB APOA2 APOA1
34 hypothyroidism 29.3 PON1 LPA CETP APOB APOA1
35 cerebrovascular disease 29.2 PON1 CETP APOB APOA1
36 chronic kidney disease 29.2 PON1 LPA LCAT CETP APOB APOA1
37 chylomicron retention disease 29.1 APOB APOA4
38 nephrotic syndrome 29.1 PON1 LPA LCAT CETP APOB APOA1
39 heart disease 29.1 PON1 LPA CETP APOB APOA2 APOA1
40 peripheral vascular disease 28.9 LPA LCAT CETP APOB APOA1
41 coronary heart disease 1 28.9 PON1 LPA LCAT CETP APOC3 APOB
42 hyperalphalipoproteinemia 1 28.7 LCAT CETP APOC3 APOB APOA2 APOA1
43 alzheimer disease, familial, 1 28.7 PON1 LPA CETP APOC3 APOB ABCA1
44 atherosclerosis susceptibility 28.6 PON1 LPA LCAT CETP APOC3 APOB
45 cardiovascular system disease 28.3 PON1 LPA LCAT CETP APOC3 APOB
46 kidney disease 28.2 PON1 LPA LCAT CETP APOC3 APOB
47 lipid metabolism disorder 28.2 PON1 LPA LCAT CETP APOC3 APOB
48 hypertension, essential 28.0 PON1 LPA LCAT CETP APOC3 APOB
49 familial hyperlipidemia 28.0 PON1 LPA LCAT CETP APOC3 APOB
50 familial hypercholesterolemia 27.8 PON1 LPA LCAT CETP APOC3 APOB

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



Diseases related to Hypoalphalipoproteinemia, Primary, 2

Symptoms & Phenotypes for Hypoalphalipoproteinemia, Primary, 2

Human phenotypes related to Hypoalphalipoproteinemia, Primary, 2:

58 30 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 opacification of the corneal stroma 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007759
2 decreased hdl cholesterol concentration 58 30 Very rare (1%) Very frequent (99-80%)
HP:0003233
3 angina pectoris 58 30 Frequent (33%) Frequent (79-30%)
HP:0001681
4 premature coronary artery atherosclerosis 58 30 Very rare (1%) Frequent (79-30%)
HP:0005181
5 xanthelasma 58 30 Frequent (33%) Frequent (79-30%)
HP:0001114
6 blurred vision 58 30 Frequent (33%) Frequent (79-30%)
HP:0000622
7 cataract 30 Very rare (1%) HP:0000518
8 corneal arcus 30 Very rare (1%) HP:0001084
9 tendon xanthomatosis 30 Very rare (1%) HP:0010874
10 abnormal circulating lipid concentration 58 Very frequent (99-80%)
11 atherosclerosis 58 Very frequent (99-80%)
12 xanthomatosis 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
corneal opacity
xanthelasmas

Muscle Soft Tissue:
thickened achilles tendon

Skin Nails Hair Skin:
xanthoma

Cardiovascular Vascular:
atherosclerosis
coronary artery disease

Cardiovascular Heart:
angina

Laboratory Abnormalities:
normal triglycerides
undetectable apoa-i
marked decreased high-density lipoprotein cholesterol (hcl-c)
normal low-density lipoprotein cholesterol (ldl-c)

Clinical features from OMIM®:

618463 (Updated 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased free cholesterol GR00340-A-2 9.1 APOA1 APOA4 APOB APOC3 CETP LPA

Drugs & Therapeutics for Hypoalphalipoproteinemia, Primary, 2

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

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atorvastatin Approved Phase 2 134523-00-5 60823
2
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
3
Acetylsalicylic acid Approved, Vet_approved Phase 2 50-78-2 2244
4
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
5
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
6 Vitamins Phase 2
7 Folate Phase 2
8 Vitamin B9 Phase 2
9 Vitamin B3 Phase 2
10 Trace Elements Phase 2
11 Nicotinic Acids Phase 2
12 Antimetabolites Phase 2
13 Vasodilator Agents Phase 2
14 Vitamin B Complex Phase 2
15 Hypolipidemic Agents Phase 2
16 Anticholesteremic Agents Phase 2
17 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
18 Lipid Regulating Agents Phase 2
19 Micronutrients Phase 2
20
Clofibric Acid Phase 2 882-09-7 2797
21
Fenofibrate Approved 49562-28-9 3339
22
Benzoyl peroxide Approved 94-36-0 7187
23
Resveratrol Investigational 501-36-0 445154
24 Platelet Aggregation Inhibitors
25 Antioxidants
26 Protective Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Combined Effects of Non-statin Treatments on Apolipoprotein A-I Up-Regulation (CENTAUR): A Feasibility Study Completed NCT00728910 Phase 2 Atorvastatin;ABT335;ER Niacin
3 Habitual Diet and Avocado Trial Completed NCT03528031
4 Treatment Study for Severe High-Density Lipoprotein Deficiency Completed NCT00458055 Atorvastatin; Fenofibrate; Niacin
5 Apolipoprotein A-I Gene Polymorphism and Atherosclerosis Completed NCT00005183
6 Characterization of Apolipoprotein A-I Pathways in Idiopathic Pulmonary Fibrosis Completed NCT02315586
7 The Effects of Resveratrol on Serum Apolipoprotein A-I Concentrations in Men and Women With Low HDL-cholesterol Concentrations Completed NCT01364961

Search NIH Clinical Center for Hypoalphalipoproteinemia, Primary, 2

Genetic Tests for Hypoalphalipoproteinemia, Primary, 2

Genetic tests related to Hypoalphalipoproteinemia, Primary, 2:

# Genetic test Affiliating Genes
1 Hypoalphalipoproteinemia, Primary, 2 28 APOA1

Anatomical Context for Hypoalphalipoproteinemia, Primary, 2

Organs/tissues related to Hypoalphalipoproteinemia, Primary, 2:

MalaCards : Heart, Endothelial, Liver, Bone Marrow, Small Intestine, Skeletal Muscle, Smooth Muscle

Publications for Hypoalphalipoproteinemia, Primary, 2

Articles related to Hypoalphalipoproteinemia, Primary, 2:

(show top 50) (show all 5574)
# Title Authors PMID Year
1
A nonsense mutation in the apolipoprotein A-I gene is associated with high-density lipoprotein deficiency and periorbital xanthelasmas. 62 57 5
7981179 1994
2
Apolipoprotein A-I deficiency due to a codon 84 nonsense mutation of the apolipoprotein A-I gene. 62 57 5
1901417 1991
3
A novel homozygous missense mutation in the apo A-I gene with apo A-I deficiency. 57 5
9514407 1998
4
A case of apolipoprotein A-I deficiency due to carboxyl-terminal truncation. 62 57
29396262 2018
5
Approach to the patient with extremely low HDL-cholesterol. 62 57
23043194 2012
6
Effect of recombinant ApoA-I Milano on coronary atherosclerosis in patients with acute coronary syndromes: a randomized controlled trial. 62 5
14600188 2003
7
Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population: a population-based survey. 62 5
9931341 1999
8
Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia. 62 57
8282791 1994
9
A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol-acyltransferase deficiency, and corneal opacities. 62 57
1898657 1991
10
The gene causing familial hypoalphalipoproteinemia is not caused by a defect in the apo AI-CIII-AIV gene cluster in a Spanish family. 62 57
1969839 1990
11
Apolipoprotein A-I variants. Naturally occurring substitutions of proline residues affect plasma concentration of apolipoprotein A-I. 62 5
2512329 1989
12
Familial apolipoprotein A-I, C-III, and A-IV deficiency and premature atherosclerosis due to deletion of a gene complex on chromosome 11. 62 5
2506176 1989
13
Apolipoprotein A-I (Glu 198----Lys): a mutant of the major apolipoprotein of high-density lipoproteins occurring in a family with dyslipoproteinemia. 62 5
3141894 1988
14
Deficiency of apolipoproteins A-I and C-III and severe coronary heart disease. 62 57
3089658 1986
15
Identification of homozygosity for a human apolipoprotein A-I variant. 62 5
3723016 1986
16
The genetic determination of plasma apolipoprotein A-I levels measured by radioimmunoassay: a study of high-risk pedigrees. 62 57
3082191 1986
17
Apolipoprotein A-I gene polymorphism associated with premature coronary artery disease and familial hypoalphalipoproteinemia. 62 57
3081805 1986
18
Apolipoprotein A-IGiessen (Pro143----Arg). A mutant that is defective in activating lecithin:cholesterol acyltransferase. 62 5
6489332 1984
19
Abnormal lecithin:cholesterol acyltransferase activation by a human apolipoprotein A-I variant in which a single lysine residue is deleted. 62 5
6432779 1984
20
Primary and familial hypoalphalipoproteinemia. 62 57
6694557 1984
21
Marked HDL deficiency and premature coronary heart disease. 57
20616715 2010
22
Apolipoprotein A1 Baltimore (Arg10----Leu), a new ApoA1 variant. 5
2108924 1990
23
Genetic determination of plasma apolipoprotein AI in a population-based sample. 57
2491774 1989
24
A major gene for primary hypoalphalipoproteinemia. 57
3953576 1986
25
AIMilano apoprotein identification of the complete kindred and evidence of a dominant genetic transmission. 5
3936350 1985
26
Apolipoprotein A-IMilano. Detection of normal A-I in affected subjects and evidence for a cysteine for arginine substitution in the variant A-I. 5
6401735 1983
27
Genetic studies of an apoA-I lipoprotein variant. 5
6413385 1983
28
Cerebrovascular arteriopathy (arteriosclerosis) and ischemic childhood stroke. 57
7080131 1982
29
Genetic variants of group A apolipoproteins. Rapid methods for screening and characterization without ultracentrifugation. 5
7082443 1982
30
Apolipoprotein AIMarburg: studies on two kindreds with a mutant of human apolipoprotein AI. 5
6818131 1982
31
Plasma apolipoprotein A-1 absence associated with a marked reduction of high density lipoproteins and premature coronary artery disease. 5
6800349 1982
32
Familial hypo-alpha-lipoproteinemia. 57
7249374 1981
33
A-Imilano apoprotein. Isolation and characterization of a cysteine-containing variant of the A-I apoprotein from human high density lipoproteins. 5
6776144 1980
34
Serum Lipids and Risk of Incident Psoriasis: A Prospective Cohort Study from the UK Biobank Study and Mendelian Randomization Analysis. 62
35850211 2022
35
Urinary proteome of dogs with renal disease secondary to leishmaniosis. 62
35777279 2022
36
Novel expression cassettes for increasing apolipoprotein AI transgene expression in vascular endothelial cells. 62
36473901 2022
37
Ganglioside GM3-Functionalized Reconstituted High-Density Lipoprotein (GM3-rHDL) as a Novel Nanocarrier Enhances Antiatherosclerotic Efficacy of Statins in apoE-/- C57BL/6 Mice. 62
36432725 2022
38
Association between high oxidized high-density lipoprotein levels and increased pericoronary inflammation determined by coronary computed tomography angiography. 62
35853799 2022
39
Mechanistic Insights into the Activation of Lecithin-Cholesterol Acyltransferase in Therapeutic Nanodiscs Composed of Apolipoprotein A-I Mimetic Peptides and Phospholipids. 62
36111986 2022
40
Apolipoprotein A-I, elevated in trauma patients, inhibits platelet activation and decreases clot strength. 62
35659185 2022
41
High-density lipoprotein cholesterol efflux capacity in patients with obstructive sleep apnea and its relation with disease severity. 62
36344946 2022
42
Clinical significance of neutrophil gelatinase-associated lipocalin and sdLDL-C for coronary artery disease in patients with type 2 diabetes mellitus aged ≥ 65 years. 62
36397150 2022
43
Combined impacts of low apolipoprotein A-I levels and reduced renal function on long-term prognosis in patients with coronary artery disease undergoing percutaneous coronary intervention. 62
36202225 2022
44
Correlation Analysis of Plasma Lipid Profiles and the Prognosis of Head and Neck Squamous Cell Carcinoma. 62
36444706 2022
45
Two Cases of Acquired High-Density Lipoprotein Deficiency with Immunoglobulin G4-Related Lecithin-Cholesterol Acyltransferase Autoantibody. 62
36384970 2022
46
Importance of Polymorphisms in the Gene of Paraoxonase-1 (SNP rs662) and Apolipoprotein A-I (SNP rs670 and rs5069) in Non-Smoking and Smoking Healthy Subjects and Patients with Acute Pancreatitis. 62
36360205 2022
47
Effect of CSL112 (apolipoprotein A-I [human]) on cholesterol efflux capacity in Japanese subjects: Findings from a phase I study and a cross-study comparison. 62
35933730 2022
48
Impact of High-Density Lipoproteins on Sepsis. 62
36361756 2022
49
Analysis of the orientation of cholesterol in high-density lipoprotein nanodiscs using solid-state NMR. 62
36134896 2022
50
Insulin Downregulates the Expression of ATP-binding Cassette Transporter A-I in Human Hepatoma Cell Line HepG2 in a FOXO1 and LXR Dependent Manner. 62
36251137 2022

Variations for Hypoalphalipoproteinemia, Primary, 2

ClinVar genetic disease variations for Hypoalphalipoproteinemia, Primary, 2:

5 (show all 24)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 APOA1 NM_000039.3(APOA1):c.589C>T (p.Arg197Cys) SNV Pathogenic
17909 rs28931573 GRCh37: 11:116706739-116706739
GRCh38: 11:116836023-116836023
2 APOA1 NM_000039.3(APOA1):c.500C>G (p.Pro167Arg) SNV Pathogenic
17910 rs121912719 GRCh37: 11:116706828-116706828
GRCh38: 11:116836112-116836112
3 APOA1-AS, APOA1 NM_000039.3(APOA1):c.391A>T (p.Lys131Ter) SNV Pathogenic
17911 rs121912716 GRCh37: 11:116706937-116706937
GRCh38: 11:116836221-116836221
4 APOA1-AS, APOA1 NM_000039.3(APOA1):c.478G>A (p.Glu160Lys) SNV Pathogenic
17913 rs121912718 GRCh37: 11:116706850-116706850
GRCh38: 11:116836134-116836134
5 APOA1-AS, APOA1 NM_000039.3(APOA1):c.80C>G (p.Pro27Arg) SNV Pathogenic
17914 rs121912720 GRCh37: 11:116707837-116707837
GRCh38: 11:116837121-116837121
6 APOA1 NM_000039.3(APOA1):c.566C>G (p.Pro189Arg) SNV Pathogenic
17916 rs121912722 GRCh37: 11:116706762-116706762
GRCh38: 11:116836046-116836046
7 APOA1 APOA1, DEL DEL Pathogenic
17919 GRCh37:
GRCh38:
8 APOA1-AS, APOA1 NM_000039.3(APOA1):c.101G>T (p.Arg34Leu) SNV Pathogenic
17920 rs28929476 GRCh37: 11:116707816-116707816
GRCh38: 11:116837100-116837100
9 APOA1-AS, APOA1 NM_000039.3(APOA1):c.322C>T (p.Gln108Ter) SNV Pathogenic
17922 rs121912723 GRCh37: 11:116707006-116707006
GRCh38: 11:116836290-116836290
10 APOA1-AS, APOA1 NM_000039.3(APOA1):c.166C>T (p.Gln56Ter) SNV Pathogenic
17926 rs121912725 GRCh37: 11:116707751-116707751
GRCh38: 11:116837035-116837035
11 APOA1 NM_000039.3(APOA1):c.539T>A (p.Val180Glu) SNV Pathogenic
17929 rs121912727 GRCh37: 11:116706789-116706789
GRCh38: 11:116836073-116836073
12 APOA1 NM_000039.3(APOA1):c.678del (p.Leu227fs) DEL Pathogenic
17921 GRCh37: 11:116706650-116706650
GRCh38: 11:116835934-116835934
13 APOA1-AS, APOA1 NM_000039.3(APOA1):c.83C>G (p.Pro28Arg) SNV Pathogenic
17915 rs121912721 GRCh37: 11:116707834-116707834
GRCh38: 11:116837118-116837118
14 APOA1 NM_000039.3(APOA1):c.664G>A (p.Glu222Lys) SNV Pathogenic
17912 rs121912717 GRCh37: 11:116706664-116706664
GRCh38: 11:116835948-116835948
15 APOA1-AS, APOA1 NM_000039.3(APOA1):c.43+1G>C SNV Pathogenic
17930 GRCh37: 11:116708060-116708060
GRCh38: 11:116837344-116837344
16 APOA1 NM_000039.3(APOA1):c.542A>G (p.Asp181Gly) SNV Likely Pathogenic
1341582 GRCh37: 11:116706786-116706786
GRCh38: 11:116836070-116836070
17 APOA1-AS, APOA1 NM_000039.3(APOA1):c.364C>T (p.Gln122Ter) SNV Likely Pathogenic
1687354 GRCh37: 11:116706964-116706964
GRCh38: 11:116836248-116836248
18 APOA1-AS, APOA1 NM_000039.3(APOA1):c.9T>C (p.Ala3=) SNV Benign
302511 rs141383703 GRCh37: 11:116708095-116708095
GRCh38: 11:116837379-116837379
19 APOA1-AS, APOA1 NM_000039.3(APOA1):c.181G>A (p.Ala61Thr) SNV Benign
302507 rs12718465 GRCh37: 11:116707736-116707736
GRCh38: 11:116837020-116837020
20 APOA1 NM_000039.3(APOA1):c.732C>G (p.Pro244=) SNV Benign
302501 rs5080 GRCh37: 11:116706596-116706596
GRCh38: 11:116835880-116835880
21 APOA1 NM_000039.3(APOA1):c.*19C>G SNV Benign
302500 rs187335584 GRCh37: 11:116706505-116706505
GRCh38: 11:116835789-116835789
22 APOA1-AS, APOA1 NM_000039.3(APOA1):c.43+41T>C SNV Benign
1225953 GRCh37: 11:116708020-116708020
GRCh38: 11:116837304-116837304
23 APOA1-AS, APOA1 NM_000039.3(APOA1):c.200+33T>C SNV Benign
1251605 GRCh37: 11:116707684-116707684
GRCh38: 11:116836968-116836968
24 APOA1 NM_000039.3(APOA1):c.564C>G (p.Ala188=) SNV Benign
1217233 GRCh37: 11:116706764-116706764
GRCh38: 11:116836048-116836048

Expression for Hypoalphalipoproteinemia, Primary, 2

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

Pathways for Hypoalphalipoproteinemia, Primary, 2

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.48 PON1 APOC3 APOB APOA4 APOA2 APOA1
2
Show member pathways
13.11 ABCA1 APOA1 APOA2 APOA4 APOB APOC3
3
Show member pathways
13.07 APOC3 APOB APOA4 APOA2 APOA1
4
Show member pathways
12.5 APOC3 APOB APOA4 APOA2 APOA1
5
Show member pathways
12.34 APOC3 APOB APOA4 APOA2 APOA1
6
Show member pathways
12.08 LPA LCAT CETP APOC3 APOB APOA4
7
Show member pathways
12.05 APOB APOA2 APOA1
8
Show member pathways
11.57 APOC3 APOA2 APOA1
9
Show member pathways
11.48 LCAT CETP APOB APOA4 APOA2 APOA1
10
Show member pathways
11.11 LCAT CETP APOC3 APOB APOA4 APOA2
11 10.96 APOC3 APOA2 APOA1
12 10.87 CETP ABCA1
13 10.84 APOA4 APOA2 APOA1 ABCA1

GO Terms for Hypoalphalipoproteinemia, Primary, 2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.41 APOA1 APOA2 APOA4 APOB APOC3 CETP
2 extracellular exosome GO:0070062 10.38 PON1 LCAT CETP APOC3 APOB APOA4
3 extracellular space GO:0005615 10.25 PON1 LPA LCAT CETP APOC3 APOB
4 endoplasmic reticulum lumen GO:0005788 10.1 APOB APOA4 APOA2 APOA1
5 early endosome GO:0005769 10.07 APOA1 APOA2 APOA4 APOB APOC3
6 blood microparticle GO:0072562 10.01 PON1 APOA4 APOA2 APOA1
7 spherical high-density lipoprotein particle GO:0034366 9.86 PON1 APOC3 APOA2 APOA1
8 very-low-density lipoprotein particle GO:0034361 9.85 APOA1 APOA2 APOA4 APOB APOC3
9 endocytic vesicle lumen GO:0071682 9.81 APOB APOA1
10 intermediate-density lipoprotein particle GO:0034363 9.73 APOC3 APOB
11 chylomicron GO:0042627 9.65 APOC3 APOB APOA4 APOA2 APOA1
12 high-density lipoprotein particle GO:0034364 9.47 PON1 LCAT CETP APOB APOA4 APOA2

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

(show all 43)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 10.25 PON1 LPA LCAT CETP APOC3 APOB
2 intermembrane lipid transfer GO:0120009 10.23 ABCA1 APOA1 APOA2 APOA4 APOB CETP
3 triglyceride homeostasis GO:0070328 10.19 CETP APOC3 APOA4 APOA1
4 cholesterol transport GO:0030301 10.19 LCAT CETP APOB APOA2 APOA1
5 phosphatidylcholine metabolic process GO:0046470 10.18 PON1 LCAT CETP APOA4 APOA1
6 cholesterol efflux GO:0033344 10.18 APOC3 APOB APOA4 APOA2 APOA1 ABCA1
7 cholesterol homeostasis GO:0042632 10.16 ABCA1 APOA1 APOA2 APOA4 APOB APOC3
8 lipid transport GO:0006869 10.15 ABCA1 APOA1 APOA2 APOA4 APOB APOC3
9 high-density lipoprotein particle assembly GO:0034380 10.14 APOA4 APOA2 APOA1 ABCA1
10 very-low-density lipoprotein particle remodeling GO:0034372 10.13 APOA1 APOA4 CETP LCAT
11 phospholipid efflux GO:0033700 10.13 APOC3 APOA4 APOA2 APOA1 ABCA1
12 triglyceride metabolic process GO:0006641 10.12 CETP APOC3 APOA2
13 positive regulation of cholesterol efflux GO:0010875 10.11 PON1 APOA1 ABCA1
14 high-density lipoprotein particle remodeling GO:0034375 10.1 LCAT CETP APOC3 APOA4 APOA2 APOA1
15 phosphatidylcholine biosynthetic process GO:0006656 10.09 APOA1 APOA2 LCAT
16 phospholipid homeostasis GO:0055091 10.09 CETP APOA1 ABCA1
17 low-density lipoprotein particle remodeling GO:0034374 10.08 CETP APOB APOA2
18 positive regulation of CoA-transferase activity GO:1905920 10.08 APOA4 APOA2 APOA1
19 regulation of Cdc42 protein signal transduction GO:0032489 10.07 APOC3 APOA1 ABCA1
20 cholesterol metabolic process GO:0008203 10.06 ABCA1 APOA1 APOA2 APOA4 APOB CETP
21 regulation of intestinal cholesterol absorption GO:0030300 10.05 APOA1 APOA2 APOA4
22 lipoprotein biosynthetic process GO:0042158 10.05 LCAT APOB APOA1 ABCA1
23 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 10.03 APOC3 APOA2 APOA1
24 positive regulation of lipid biosynthetic process GO:0046889 9.99 APOA4 APOA1
25 triglyceride catabolic process GO:0019433 9.99 APOC3 APOB
26 negative regulation of lipid catabolic process GO:0050995 9.99 APOC3 APOA2
27 lipid catabolic process GO:0016042 9.98 APOC3 APOB APOA4
28 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.98 ABCA1 CETP
29 positive regulation of fatty acid biosynthetic process GO:0045723 9.98 APOA1 APOA4
30 very-low-density lipoprotein particle assembly GO:0034379 9.97 APOC3 APOB
31 positive regulation of lipoprotein lipase activity GO:0051006 9.97 APOA4 APOA1
32 positive regulation of triglyceride catabolic process GO:0010898 9.97 APOA4 APOA1
33 steroid metabolic process GO:0008202 9.97 LCAT CETP APOB APOA1 ABCA1
34 high-density lipoprotein particle clearance GO:0034384 9.96 APOA2 APOA1
35 peptidyl-methionine modification GO:0018206 9.96 APOA1 APOA2
36 negative regulation of cytokine production involved in immune response GO:0002719 9.96 APOA2 APOA1
37 protein oxidation GO:0018158 9.95 APOA2 APOA1
38 regulation of high-density lipoprotein particle assembly GO:0090107 9.94 LCAT ABCA1
39 negative regulation of cholesterol import GO:0060621 9.93 APOC3 APOA2
40 negative regulation of plasma lipoprotein oxidation GO:0034445 9.81 PON1 APOA4
41 reverse cholesterol transport GO:0043691 9.8 LCAT CETP APOC3 APOA4 APOA2 APOA1
42 obsolete positive regulation of cholesterol esterification GO:0010873 9.62 APOA4 APOA1
43 lipoprotein metabolic process GO:0042157 9.36 LCAT APOC3 APOB APOA4 APOA2 APOA1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 phospholipid binding GO:0005543 10.1 APOA1 APOA2 APOA4 APOB APOC3 PON1
2 lipid binding GO:0008289 10.03 APOA1 APOA2 APOA4 APOC3 CETP
3 phosphatidylcholine binding GO:0031210 9.96 CETP APOA4 APOA2 APOA1 ABCA1
4 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.88 APOA4 APOA2 APOA1
5 high-density lipoprotein particle receptor binding GO:0070653 9.85 APOC3 APOA2 APOA1
6 apolipoprotein binding GO:0034185 9.84 LPA ABCA1
7 phospholipid transporter activity GO:0005548 9.83 CETP ABCA1
8 high-density lipoprotein particle binding GO:0008035 9.81 APOA2 APOA1
9 lipase inhibitor activity GO:0055102 9.8 APOC3 APOA2
10 apolipoprotein A-I binding GO:0034186 9.78 LCAT ABCA1
11 apolipoprotein receptor binding GO:0034190 9.76 APOA2 APOA1
12 lipid transporter activity GO:0005319 9.76 APOB APOA4 APOA2 APOA1 ABCA1
13 cholesterol binding GO:0015485 9.73 ABCA1 APOA1 APOA2 APOA4 APOC3 CETP
14 cholesterol transfer activity GO:0120020 9.4 CETP APOB APOA4 APOA2 APOA1 ABCA1

Sources for Hypoalphalipoproteinemia, Primary, 2

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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