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FHA2
MCID: HYP843
MIFTS: 50

Hypoalphalipoproteinemia, Primary, 2 (FHA2)

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

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MalaCards integrated aliases for Hypoalphalipoproteinemia, Primary, 2:

Name: Hypoalphalipoproteinemia, Primary, 2 57 73 6
Apolipoprotein a-I Deficiency 57 58 6
Hypoalphalipoproteinemia, Primary, 2, with or Without Corneal Clouding 57 73
Apoa-I and Apoc-Iii Deficiency, Combined 57
High Density Lipoprotein Deficiency 57
Familial Hypoalphalipoproteinemia 58
Familial Apoa-I Deficiency 58
Apolipoprotein a-I 6
Apoa-I Deficiency 58
Fha2 73

Characteristics:

Orphanet epidemiological data:

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

Classifications:

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


External Ids:

OMIM® 57 618463
MeSH 44 D052456
MESH via Orphanet 45 D052456
ICD10 via Orphanet 33 E78.6
UMLS via Orphanet 72 C0342898 C1704429
Orphanet 58 ORPHA425
MedGen 41 CN262194
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Summaries for Hypoalphalipoproteinemia, Primary, 2

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OMIM® : 57 Primary hypoalphalipoproteinemia-2 characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol (HDL-C), is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities (summary by Tanaka et al., 2018). Primary hypoalphalipoproteinemia-2 characterized by half the normal plasma apoA-I and HDL-C levels is inherited as an autosomal dominant trait (Yamakawa-Kobayashi et al., 1999). Heterozygous individuals may develop xanthomas and corneal opacities, but most do not have increased cardiovascular risk (Rader and deGoma, 2012). For a discussion of genetic heterogeneity of primary hypoalphalipoproteinemia, see 604091. (618463) (Updated 05-Mar-2021)

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 Lipoprotein metabolism and Folate Metabolism. The drugs Pharmaceutical Solutions and Nicotinamide have been mentioned in the context of this disorder. Affiliated tissues include liver and heart, and related phenotypes are splenomegaly and corneal opacity

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

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Related Diseases for Hypoalphalipoproteinemia, Primary, 2

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Diseases in the Hypoalphalipoproteinemia family:

Hypoalphalipoproteinemia, Primary, 1 Hypoalphalipoproteinemia, Primary, 2

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

(show top 50) (show all 303)
# Related Disease Score Top Affiliating Genes
1 tangier disease 32.1 APOA1-AS APOA1 ABCA1
2 hypoalphalipoproteinemia, primary, 1 32.0 APOA1-AS APOA1 ABCA1
3 hypoalphalipoproteinemia 31.5 APOA1 ABCA1
4 amyloidosis, familial visceral 31.4 APOA1-AS APOA1
5 hypolipoproteinemia 29.9 APOA1 ABCA1
6 familial hypercholesterolemia 29.9 APOA1 ABCA1
7 cardiovascular system disease 29.9 APOA1 ABCA1
8 huntington disease-like 1 29.9 APOA1 ABCA1
9 familial hyperlipidemia 29.8 APOA1 ABCA1
10 atherosclerosis susceptibility 29.6 APOA1 ABCA1
11 lipid metabolism disorder 29.5 APOA1 ABCA1
12 homozygous familial hypercholesterolemia 29.5 APOA1 ABCA1
13 cerebrovascular disease 29.2 APOA1 ABCA1
14 aapoai amyloidosis 11.6
15 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 11.2
16 helix syndrome 10.7
17 hereditary amyloidosis 10.4
18 fish-eye disease 10.4
19 eye disease 10.4
20 hypertriglyceridemia, familial 10.4
21 coronary heart disease 1 10.4
22 48,xyyy 10.4
23 proteasome-associated autoinflammatory syndrome 1 10.3
24 hepatoblastoma 10.3
25 vascular disease 10.3
26 rapidly involuting congenital hemangioma 10.3
27 acute myocardial infarction 10.3
28 homocysteinemia 10.3
29 non-alcoholic fatty liver disease 10.3
30 pulmonary fibrosis 10.3
31 peripheral nervous system disease 10.2
32 neuropathy 10.2
33 splenomegaly 10.2
34 type 1 diabetes mellitus 10.2
35 polyneuropathy 10.2
36 hypogonadism 10.2
37 liver disease 10.2
38 lupus erythematosus 10.2
39 systemic lupus erythematosus 10.2
40 papillomatosis, confluent and reticulated 10.2
41 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
42 proteinuria, chronic benign 10.2
43 non-alcoholic steatohepatitis 10.2
44 aortic atherosclerosis 10.2
45 nephrotic syndrome 10.2
46 cholestasis 10.2
47 hyperthyroidism 10.2
48 fatty liver disease 10.2
49 47,xyy 10.2
50 lecithin:cholesterol acyltransferase deficiency 10.2

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



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

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Human phenotypes related to Hypoalphalipoproteinemia, Primary, 2:

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

Clinical features from OMIM®:

618463 (Updated 05-Mar-2021)

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

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

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

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 3
2
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
3
Atorvastatin Approved Phase 2 134523-00-5 60823
4
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244
5
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
6
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
7 Micronutrients Phase 2
8 Nutrients Phase 2
9 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
10 Trace Elements Phase 2
11 Clofibric Acid Phase 2 882-09-7
12 Vitamin B Complex Phase 2
13 Vitamin B3 Phase 2
14 Vitamins Phase 2
15 Nicotinic Acids Phase 2
16 Hypolipidemic Agents Phase 2
17 Antimetabolites Phase 2
18 Lipid Regulating Agents Phase 2
19 Folate Phase 2
20 Vitamin B9 Phase 2
21 Vasodilator Agents Phase 2
22 Anticholesteremic Agents Phase 2
23
Fenofibrate Approved 49562-28-9 3339
24
Benzoyl peroxide Approved 94-36-0 7187
25
Resveratrol Investigational 501-36-0 445154
26 Protective Agents
27 Anti-Inflammatory Agents
28 Analgesics, Non-Narcotic
29 Antioxidants
30 Anti-Inflammatory Agents, Non-Steroidal
31 Antirheumatic Agents
32 Analgesics
33 Platelet Aggregation Inhibitors

Interventional clinical trials:


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

Search NIH Clinical Center for Hypoalphalipoproteinemia, Primary, 2

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Genetic Tests for Hypoalphalipoproteinemia, Primary, 2

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Anatomical Context for Hypoalphalipoproteinemia, Primary, 2

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

40
Liver, Heart
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Publications for Hypoalphalipoproteinemia, Primary, 2

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Articles related to Hypoalphalipoproteinemia, Primary, 2:

(show top 50) (show all 59)
# Title Authors PMID Year
1
Apolipoprotein A-I deficiency due to a codon 84 nonsense mutation of the apolipoprotein A-I gene. 57 6 61
1901417 1991
2
Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population: a population-based survey. 6 57
9931341 1999
3
A novel homozygous missense mutation in the apo A-I gene with apo A-I deficiency. 6 57
9514407 1998
4
A nonsense mutation in the apolipoprotein A-I gene is associated with high-density lipoprotein deficiency and periorbital xanthelasmas. 57 6
7981179 1994
5
Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene. 57 6
8240372 1993
6
A case of apolipoprotein A-I deficiency due to carboxyl-terminal truncation. 61 57
29396262 2018
7
Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia. 61 57
8282791 1994
8
Approach to the patient with extremely low HDL-cholesterol. 57
23043194 2012
9
Marked HDL deficiency and premature coronary heart disease. 57
20616715 2010
10
Effect of recombinant ApoA-I Milano on coronary atherosclerosis in patients with acute coronary syndromes: a randomized controlled trial. 6
14600188 2003
11
Novel ABCA1 compound variant associated with HDL cholesterol deficiency. 6
12009425 2002
12
Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease. 6
11476965 2001
13
High-dose recombinant apolipoprotein A-I(milano) mobilizes tissue cholesterol and rapidly reduces plaque lipid and macrophage content in apolipoprotein e-deficient mice. Potential implications for acute plaque stabilization. 6
11425766 2001
14
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. 6
10431236 1999
15
Severe familial HDL deficiency in French-Canadian kindreds. Clinical, biochemical, and molecular characterization. 6
7627690 1995
16
A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol-acyltransferase deficiency, and corneal opacities. 57
1898657 1991
17
The gene causing familial hypoalphalipoproteinemia is not caused by a defect in the apo AI-CIII-AIV gene cluster in a Spanish family. 57
1969839 1990
18
Apolipoprotein A1 Baltimore (Arg10----Leu), a new ApoA1 variant. 6
2108924 1990
19
Apolipoprotein A-I variants. Naturally occurring substitutions of proline residues affect plasma concentration of apolipoprotein A-I. 6
2512329 1989
20
Familial apolipoprotein A-I, C-III, and A-IV deficiency and premature atherosclerosis due to deletion of a gene complex on chromosome 11. 6
2506176 1989
21
Genetic determination of plasma apolipoprotein AI in a population-based sample. 57
2491774 1989
22
Apolipoprotein A-I (Glu 198----Lys): a mutant of the major apolipoprotein of high-density lipoproteins occurring in a family with dyslipoproteinemia. 6
3141894 1988
23
DNA inversion within the apolipoproteins AI/CIII/AIV-encoding gene cluster of certain patients with premature atherosclerosis. 57
3118360 1987
24
Deficiency of apolipoproteins A-I and C-III and severe coronary heart disease. 57
3089658 1986
25
Identification of homozygosity for a human apolipoprotein A-I variant. 6
3723016 1986
26
A major gene for primary hypoalphalipoproteinemia. 57
3953576 1986
27
The genetic determination of plasma apolipoprotein A-I levels measured by radioimmunoassay: a study of high-risk pedigrees. 57
3082191 1986
28
Apolipoprotein A-I gene polymorphism associated with premature coronary artery disease and familial hypoalphalipoproteinemia. 57
3081805 1986
29
AIMilano apoprotein identification of the complete kindred and evidence of a dominant genetic transmission. 6
3936350 1985
30
Apolipoprotein A-IGiessen (Pro143----Arg). A mutant that is defective in activating lecithin:cholesterol acyltransferase. 6
6489332 1984
31
Abnormal lecithin:cholesterol acyltransferase activation by a human apolipoprotein A-I variant in which a single lysine residue is deleted. 6
6432779 1984
32
Primary and familial hypoalphalipoproteinemia. 57
6694557 1984
33
Apolipoprotein A-IMilano. Detection of normal A-I in affected subjects and evidence for a cysteine for arginine substitution in the variant A-I. 6
6401735 1983
34
Genetic studies of an apoA-I lipoprotein variant. 6
6413385 1983
35
Cerebrovascular arteriopathy (arteriosclerosis) and ischemic childhood stroke. 57
7080131 1982
36
Genetic variants of group A apolipoproteins. Rapid methods for screening and characterization without ultracentrifugation. 6
7082443 1982
37
Apolipoprotein AIMarburg: studies on two kindreds with a mutant of human apolipoprotein AI. 6
6818131 1982
38
Plasma apolipoprotein A-1 absence associated with a marked reduction of high density lipoproteins and premature coronary artery disease. 6
6800349 1982
39
Familial hypo-alpha-lipoproteinemia. 57
7249374 1981
40
A-Imilano apoprotein. Isolation and characterization of a cysteine-containing variant of the A-I apoprotein from human high density lipoproteins. 6
6776144 1980
41
Distinct phospholipid and sphingolipid species are linked to altered HDL function in apolipoprotein A-I deficiency. 61
31003938 2019
42
Corneal vesicles accumulate collagen VI associated with tissue remodeling in apolipoprotein a-I deficiency: a case report. 61
28178939 2017
43
Apolipoprotein A-I deficiency does not affect biliary lipid secretion and gallstone formation in mice. 61
21134113 2011
44
Apolipoprotein A-I deficiency increases cerebral amyloid angiopathy and cognitive deficits in APP/PS1DeltaE9 mice. 61
20739292 2010
45
Histologic evaluation of a cornea in a patient with apolipoprotein A-I deficiency. 61
18362673 2008
46
Characterization of high density lipoprotein particles in familial apolipoprotein A-I deficiency. 61
17991756 2008
47
Genetically based hypertension generated through interaction of mild hypoalphalipoproteinemia and mild hyperhomocysteinemia. 61
17620955 2007
48
Molecular regulation of macrophage reverse cholesterol transport. 61
17556891 2007
49
[Apolipoprotein A-I deficiency and variants]. 61
17821910 2007
50
Apolipoprotein A-I deficiency results in markedly increased atherosclerosis in mice lacking the LDL receptor. 61
12933536 2003
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Variations for Hypoalphalipoproteinemia, Primary, 2

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ClinVar genetic disease variations for Hypoalphalipoproteinemia, Primary, 2:

6 (show top 50) (show all 275)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 APOA1 NM_000039.2(APOA1):c.500C>G (p.Pro167Arg) SNV Pathogenic 17910 rs121912719 11:116706828-116706828 11:116836112-116836112
2 APOA1 NM_000039.2(APOA1):c.664G>A (p.Glu222Lys) SNV Pathogenic 17912 rs121912717 11:116706664-116706664 11:116835948-116835948
3 APOA1-AS NM_000039.2(APOA1):c.478G>A (p.Glu160Lys) SNV Pathogenic 17913 rs121912718 11:116706850-116706850 11:116836134-116836134
4 APOA1-AS NM_000039.2(APOA1):c.80C>G (p.Pro27Arg) SNV Pathogenic 17914 rs121912720 11:116707837-116707837 11:116837121-116837121
5 APOA1-AS NM_000039.2(APOA1):c.83C>G (p.Pro28Arg) SNV Pathogenic 17915 rs121912721 11:116707834-116707834 11:116837118-116837118
6 APOA1-AS NM_000039.2(APOA1):c.101G>T (p.Arg34Leu) SNV Pathogenic 17920 rs28929476 11:116707816-116707816 11:116837100-116837100
7 APOA1-AS NM_000039.2(APOA1):c.391A>T (p.Lys131Ter) SNV Pathogenic 17911 rs121912716 11:116706937-116706937 11:116836221-116836221
8 APOA1 NM_000039.2(APOA1):c.589C>T (p.Arg197Cys) SNV Pathogenic 17909 rs28931573 11:116706739-116706739 11:116836023-116836023
9 ABCA1 NM_005502.4(ABCA1):c.3295G>T (p.Asp1099Tyr) SNV Pathogenic 9501 rs28933692 9:107581111-107581111 9:104818830-104818830
10 ABCA1 NM_005502.4(ABCA1):c.6026T>C (p.Phe2009Ser) SNV Pathogenic 9502 rs137854499 9:107550750-107550750 9:104788469-104788469
11 APOA1-AS NM_001318021.1(APOA1):c.-240-9dup Duplication Pathogenic 504196 rs753348565 11:116707831-116707832 11:116837115-116837116
12 ABCA1 NM_005502.4(ABCA1):c.5192C>G (p.Ser1731Cys) SNV Pathogenic 632032 rs760507032 9:107558635-107558635 9:104796354-104796354
13 APOA1 NM_000039.2(APOA1):c.566C>G (p.Pro189Arg) SNV Pathogenic 17916 rs121912722 11:116706762-116706762 11:116836046-116836046
14 APOA1 APOA1, DEL Deletion Pathogenic 17919
15 APOA1 APOA1, 1-BP DEL, CODON 202 Deletion Pathogenic 17921
16 APOA1-AS NM_001318021.1(APOA1):c.-6C>T SNV Pathogenic 17922 rs121912723 11:116707006-116707006 11:116836290-116836290
17 APOA1-AS NM_001318021.1(APOA1):c.-162C>T SNV Pathogenic 17926 rs121912725 11:116707751-116707751 11:116837035-116837035
18 APOA1 NM_000039.2(APOA1):c.539T>A (p.Val180Glu) SNV Pathogenic 17929 rs121912727 11:116706789-116706789 11:116836073-116836073
19 APOA1 APOA1, IVS2, G-C, +1 SNV Pathogenic 17930
20 ABCA1 NM_005502.4(ABCA1):c.2077_2079CTT[1] (p.Leu694del) Microsatellite Pathogenic 9486 rs387906412 9:107591230-107591232 9:104828949-104828951
21 ABCA1 NM_005502.4(ABCA1):c.3849_3852del (p.Pro1284fs) Deletion Pathogenic 9504 rs387906415 9:107576448-107576451 9:104814167-104814170
22 ABCA1 NM_005502.4(ABCA1):c.1537A>G (p.Ile513Val) SNV Uncertain significance 914982 9:107594081-107594081 9:104831800-104831800
23 ABCA1 NM_005502.4(ABCA1):c.1467C>T (p.Asn489=) SNV Uncertain significance 914983 9:107594897-107594897 9:104832616-104832616
24 ABCA1 NM_005502.4(ABCA1):c.*2502T>G SNV Uncertain significance 914551 9:107544094-107544094 9:104781813-104781813
25 ABCA1 NM_005502.4(ABCA1):c.*1876A>G SNV Uncertain significance 914593 9:107544720-107544720 9:104782439-104782439
26 ABCA1 NM_005502.4(ABCA1):c.6440G>T (p.Gly2147Val) SNV Uncertain significance 914708 9:107547882-107547882 9:104785601-104785601
27 ABCA1 NM_005502.4(ABCA1):c.5416G>A (p.Val1806Met) SNV Uncertain significance 914764 9:107556758-107556758 9:104794477-104794477
28 ABCA1 NM_005502.4(ABCA1):c.4357A>G (p.Asn1453Asp) SNV Uncertain significance 914808 9:107568629-107568629 9:104806348-104806348
29 ABCA1 NM_005502.4(ABCA1):c.*1222C>T SNV Uncertain significance 914629 9:107545374-107545374 9:104783093-104783093
30 ABCA1 NM_005502.4(ABCA1):c.-188G>C SNV Uncertain significance 915109 9:107690311-107690311 9:104928030-104928030
31 ABCA1 NM_005502.4(ABCA1):c.-194C>T SNV Uncertain significance 915110 9:107690317-107690317 9:104928036-104928036
32 ABCA1 NM_005502.4(ABCA1):c.*3208T>A SNV Uncertain significance 915227 9:107543388-107543388 9:104781107-104781107
33 ABCA1 NM_005502.4(ABCA1):c.*3187A>G SNV Uncertain significance 915228 9:107543409-107543409 9:104781128-104781128
34 APOA1-AS NM_000039.2(APOA1):c.41C>T (p.Thr14Met) SNV Uncertain significance 632642 rs778560581 11:116708063-116708063 11:116837347-116837347
35 ABCA1 NM_005502.4(ABCA1):c.68G>A (p.Cys23Tyr) SNV Uncertain significance 912355 9:107651475-107651475 9:104889194-104889194
36 APOA1 NM_000039.3(APOA1):c.705C>G (p.Leu235=) SNV Uncertain significance 877609 11:116706623-116706623 11:116835907-116835907
37 APOA1-AS NM_000039.3(APOA1):c.-29G>A SNV Uncertain significance 877657 11:116708329-116708329 11:116837613-116837613
38 APOA1 NM_000039.3(APOA1):c.677C>T (p.Thr226Met) SNV Uncertain significance 878622 11:116706651-116706651 11:116835935-116835935
39 APOA1-AS NM_000039.3(APOA1):c.447G>A (p.Glu149=) SNV Uncertain significance 879222 11:116706881-116706881 11:116836165-116836165
40 ABCA1 NM_005502.4(ABCA1):c.*1326C>T SNV Uncertain significance 364354 rs563738526 9:107545270-107545270 9:104782989-104782989
41 ABCA1 NM_005502.4(ABCA1):c.2988C>G (p.Phe996Leu) SNV Uncertain significance 364424 rs886063310 9:107582323-107582323 9:104820042-104820042
42 ABCA1 NM_005502.4(ABCA1):c.-141C>G SNV Uncertain significance 364476 rs886063314 9:107690264-107690264 9:104927983-104927983
43 ABCA1 NM_005502.4(ABCA1):c.-281C>A SNV Uncertain significance 912412 9:107690404-107690404 9:104928123-104928123
44 ABCA1 NM_005502.4(ABCA1):c.*2988C>T SNV Uncertain significance 912532 9:107543608-107543608 9:104781327-104781327
45 ABCA1 NM_005502.4(ABCA1):c.*2371A>G SNV Uncertain significance 912581 9:107544225-107544225 9:104781944-104781944
46 ABCA1 NM_005502.4(ABCA1):c.*2330A>T SNV Uncertain significance 912582 9:107544266-107544266 9:104781985-104781985
47 ABCA1 NM_005502.4(ABCA1):c.*1031T>C SNV Uncertain significance 912667 9:107545565-107545565 9:104783284-104783284
48 ABCA1 NM_005502.4(ABCA1):c.*398A>G SNV Uncertain significance 912705 9:107546198-107546198 9:104783917-104783917
49 ABCA1 NM_005502.4(ABCA1):c.*379C>T SNV Uncertain significance 912706 9:107546217-107546217 9:104783936-104783936
50 ABCA1 NM_005502.4(ABCA1):c.5237+6T>C SNV Uncertain significance 912804 9:107558584-107558584 9:104796303-104796303
Sources

Expression for Hypoalphalipoproteinemia, Primary, 2

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

Pathways for Hypoalphalipoproteinemia, Primary, 2

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

# Super pathways Score Top Affiliating Genes
1
Lipoprotein metabolism 65
Show member pathways
 11.86 APOA1 ABCA1
2
Folate Metabolism 1
Show member pathways
 11.59 APOA1 ABCA1
3
Statin Pathway 1
Show member pathways
 11.23 APOA1 ABCA1
4
Fat digestion and absorption 36
Show member pathways
 10.62 APOA1 ABCA1
5
Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF) 23
9.9 APOA1 ABCA1
Sources

GO Terms for Hypoalphalipoproteinemia, Primary, 2

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

# Name GO ID Score Top Affiliating Genes
1 endocytic vesicle GO:0030139 8.62 APOA1 ABCA1

Biological processes related to Hypoalphalipoproteinemia, Primary, 2 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, 2 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

Sources for Hypoalphalipoproteinemia, Primary, 2

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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