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MCID: HYP843
MIFTS: 29

Hypoalphalipoproteinemia, Primary, 2

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications 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
Apolipoprotein a-I Deficiency 57 6
Hypoalphalipoproteinemia, Primary, 2, with or Without Corneal Clouding 57
Apoa-I and Apoc-Iii Deficiency, Combined 57
High Density Lipoprotein Deficiency 57

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Endocrine diseases Cardiovascular diseases Blood diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 57 618463
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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)

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). The drugs Fenofibrate and Atorvastatin have been mentioned in the context of this disorder. Affiliated tissues include liver and heart, and related phenotypes are splenomegaly and corneal opacity

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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 all 37)
# Related Disease Score Top Affiliating Genes
1 tangier disease 12.7
2 hypoalphalipoproteinemia, primary, 1 12.5
3 hypoalphalipoproteinemia 11.7
4 atherosclerosis susceptibility 10.3
5 fish-eye disease 10.3
6 eye disease 10.3
7 hypertriglyceridemia, familial 10.3
8 coronary heart disease 1 10.3
9 neuropathy 10.2
10 hypolipoproteinemia 10.2
11 peripheral nervous system disease 10.2
12 splenomegaly 10.2
13 lecithin:cholesterol acyltransferase deficiency 10.1
14 myocardial infarction 10.1
15 heart disease 10.1
16 ataxia and polyneuropathy, adult-onset 10.0
17 arteries, anomalies of 9.9
18 hyperalphalipoproteinemia 1 9.9
19 hypercholesterolemia, familial, 1 9.9
20 storage pool platelet disease 9.9
21 thrombophilia due to thrombin defect 9.9
22 abetalipoproteinemia 9.9
23 chediak-higashi syndrome 9.9
24 lymphoma, hodgkin, classic 9.9
25 huntington disease-like 3 9.9
26 lymphoma, non-hodgkin, familial 9.9
27 hyperlipoproteinemia, type iii 9.9
28 thrombosis 9.9
29 coronary artery anomaly 9.9
30 apo a-i deficiency 9.9
31 familial lcat deficiency 9.9
32 alzheimer disease 9.9
33 cerebral amyloid angiopathy, cst3-related 9.9
34 chylomicron retention disease 9.9
35 huntington disease-like 2 9.9
36 autosomal dominant cerebellar ataxia 9.9
37 cataract 9.9

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:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 frequent (33%) HP:0001744
2 corneal opacity 32 frequent (33%) HP:0007957
3 emg abnormality 32 frequent (33%) HP:0003457
4 anemia 32 frequent (33%) HP:0001903
5 hemiplegia/hemiparesis 32 frequent (33%) HP:0004374
6 blurred vision 32 frequent (33%) HP:0000622
7 lymphadenopathy 32 frequent (33%) HP:0002716
8 abnormality of the liver 32 frequent (33%) HP:0001392
9 xanthomatosis 32 frequent (33%) HP:0000991
10 decreased hdl cholesterol concentration 32 frequent (33%) HP:0003233

Clinical features from OMIM:

618463
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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 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fenofibrate Approved 49562-28-9 3339
2
Atorvastatin Approved 134523-00-5 60823
3
Nicotinamide Approved, Investigational 98-92-0 936
4
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
5
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
6 Micronutrients
7 Trace Elements
8 Clofibric Acid 882-09-7
9 Lipid Regulating Agents
10 Vitamins
11 Hydroxymethylglutaryl-CoA Reductase Inhibitors
12 Vitamin B9
13 Folate
14 Hypolipidemic Agents
15 Vitamin B3
16 Vitamin B Complex
17 Nicotinic Acids
18 Anticholesteremic Agents
19 Vasodilator Agents
20 Antimetabolites
21 Nutrients

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment Study for Severe High-Density Lipoprotein Deficiency Completed NCT00458055 Atorvastatin; Fenofibrate; Niacin

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:

41
Liver, Heart
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Publications for Hypoalphalipoproteinemia, Primary, 2

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Articles related to Hypoalphalipoproteinemia, Primary, 2:

(show all 41)
# Title Authors PMID Year
1
Apolipoprotein A-I deficiency due to a codon 84 nonsense mutation of the apolipoprotein A-I gene. 38 8 71
1901417 1991
2
A novel homozygous missense mutation in the apo A-I gene with apo A-I deficiency. 8 71
9514407 1998
3
Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia. 38 8
8282791 1994
4
Approach to the patient with extremely low HDL-cholesterol. 8
23043194 2012
5
Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population: a population-based survey. 8
9931341 1999
6
A nonsense mutation in the apolipoprotein A-I gene is associated with high-density lipoprotein deficiency and periorbital xanthelasmas. 8
7981179 1994
7
Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene. 8
8240372 1993
8
A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol-acyltransferase deficiency, and corneal opacities. 8
1898657 1991
9
The gene causing familial hypoalphalipoproteinemia is not caused by a defect in the apo AI-CIII-AIV gene cluster in a Spanish family. 8
1969839 1990
10
Apolipoprotein A-I variants. Naturally occurring substitutions of proline residues affect plasma concentration of apolipoprotein A-I. 71
2512329 1989
11
Familial apolipoprotein A-I, C-III, and A-IV deficiency and premature atherosclerosis due to deletion of a gene complex on chromosome 11. 71
2506176 1989
12
Genetic determination of plasma apolipoprotein AI in a population-based sample. 8
2491774 1989
13
DNA inversion within the apolipoproteins AI/CIII/AIV-encoding gene cluster of certain patients with premature atherosclerosis. 8
3118360 1987
14
Deficiency of apolipoproteins A-I and C-III and severe coronary heart disease. 8
3089658 1986
15
Apolipoprotein A-I gene polymorphism associated with premature coronary artery disease and familial hypoalphalipoproteinemia. 8
3081805 1986
16
The genetic determination of plasma apolipoprotein A-I levels measured by radioimmunoassay: a study of high-risk pedigrees. 8
3082191 1986
17
A major gene for primary hypoalphalipoproteinemia. 8
3953576 1986
18
Primary and familial hypoalphalipoproteinemia. 8
6694557 1984
19
Cerebrovascular arteriopathy (arteriosclerosis) and ischemic childhood stroke. 8
7080131 1982
20
Plasma apolipoprotein A-1 absence associated with a marked reduction of high density lipoproteins and premature coronary artery disease. 71
6800349 1982
21
Familial hypo-alpha-lipoproteinemia. 8
7249374 1981
22
Distinct phospholipid and sphingolipid species are linked to altered HDL function in apolipoprotein A-I deficiency. 38
31003938 2019
23
A case of apolipoprotein A-I deficiency due to carboxyl-terminal truncation. 38
29396262 2018
24
Corneal vesicles accumulate collagen VI associated with tissue remodeling in apolipoprotein a-I deficiency: a case report. 38
28178939 2017
25
Apolipoprotein A-I deficiency does not affect biliary lipid secretion and gallstone formation in mice. 38
21134113 2011
26
Apolipoprotein A-I deficiency increases cerebral amyloid angiopathy and cognitive deficits in APP/PS1DeltaE9 mice. 38
20739292 2010
27
Histologic evaluation of a cornea in a patient with apolipoprotein A-I deficiency. 38
18362673 2008
28
Characterization of high density lipoprotein particles in familial apolipoprotein A-I deficiency. 38
17991756 2008
29
Genetically based hypertension generated through interaction of mild hypoalphalipoproteinemia and mild hyperhomocysteinemia. 38
17620955 2007
30
Molecular regulation of macrophage reverse cholesterol transport. 38
17556891 2007
31
[Apolipoprotein A-I deficiency and variants]. 38
17821910 2007
32
Apolipoprotein A-I deficiency results in markedly increased atherosclerosis in mice lacking the LDL receptor. 38
12933536 2003
33
Apolipoprotein A-I deficiency with accumulated risk for CHD but no symptoms of CHD. 38
11996960 2002
34
Exclusive association of paraoxonase 1 with high-density lipoprotein particles in apolipoprotein A-I deficiency. 38
11716486 2001
35
[Apolipoprotein A-I deficiency]. 38
11347076 2001
36
ApoA-I deficiency causes both hypertriglyceridemia and increased atherosclerosis in human apoB transgenic mice. 38
9507992 1998
37
Case report: retinopathy and neuropathy associated with complete apolipoprotein A-I deficiency. 38
8686727 1996
38
Apolipoprotein A-I deficiency. Biochemical and metabolic characteristics. 38
7489237 1995
39
Effect of apolipoprotein A-I deficiency on lecithin:cholesterol acyltransferase activation in mouse plasma. 38
7751823 1995
40
High-density lipoprotein and apolipoprotein A-I deficiency induced by combination therapy with probucol and bezafibrate. 38
7589043 1995
41
Apolipoprotein A-I: deficiency in Tangier disease. 38
3146917 1988
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Variations for Hypoalphalipoproteinemia, Primary, 2

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ClinVar genetic disease variations for Hypoalphalipoproteinemia, Primary, 2:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 APOA1 NM_000039.2(APOA1): c.566C> G (p.Pro189Arg) single nucleotide variant Pathogenic rs121912722 11:116706762-116706762 11:116836046-116836046
2 APOA1 APOA1, DEL deletion Pathogenic
3 APOA1 NM_000039.2(APOA1): c.322C> T (p.Gln108Ter) single nucleotide variant Pathogenic rs121912723 11:116707006-116707006 11:116836290-116836290
4 APOA1 NM_000039.2(APOA1): c.539T> A (p.Val180Glu) single nucleotide variant Pathogenic rs121912727 11:116706789-116706789 11:116836073-116836073
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Expression for Hypoalphalipoproteinemia, Primary, 2

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

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GO Terms for Hypoalphalipoproteinemia, Primary, 2

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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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 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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