MCID: HYP121
MIFTS: 55

Hypoalphalipoproteinemia malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Hypoalphalipoproteinemia

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Aliases & Descriptions for Hypoalphalipoproteinemia:

Name: Hypoalphalipoproteinemia 49 47
Hdl Deficiency, Type 2 49 11 23 65
Familial Hdl Deficiency 45 23 65
Fha 45 23 67
High Density Lipoprotein Deficiency 45 65
Hypoalphalipoproteinemia, Familial 45 65
Familial Hypoalphalipoproteinemia 23 67
Hdld 45 23
 
High Density Lipoprotein Deficiency 2 67
Familial Hypoalphalipo-Proteinemia 24
Hypoalphalipoproteinemia, Primary 45
Primary Hypoalphalipoproteinemia 23
Hypoalphalipoproteinemias 65
Low Serum Hdl Cholesterol 23
Hdld2 67
Fhd 45

Characteristics:

HPO:

61
hypoalphalipoproteinemia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 604091
UMLS65 C0473527, C1704429, C2931838 C3165209, C3711531, more

Summaries for Hypoalphalipoproteinemia

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Genetics Home Reference:23 Familial HDL deficiency is a condition characterized by low levels of high-density lipoprotein (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.

MalaCards based summary: Hypoalphalipoproteinemia, also known as hdl deficiency, type 2, is related to obesity and myocardial infarction, and has symptoms including multiple lipomas, coronary artery disease and cerebral ischemia. An important gene associated with Hypoalphalipoproteinemia is ABCA1 (ATP Binding Cassette Subfamily A Member 1), and among its related pathways are Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF) and Fat digestion and absorption. Affiliated tissues include liver, heart and endothelial, and related mouse phenotypes are endocrine/exocrine gland and integument.

NIH Rare Diseases:45 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. last updated: 1/19/2016

UniProtKB/Swiss-Prot:67 High density lipoprotein deficiency 2: Inherited as autosomal dominant trait. It is characterized by moderately low HDL cholesterol, predilection toward premature coronary artery disease (CAD) and a reduction in cellular cholesterol efflux.

OMIM:49 Twenty to 30% of early familial coronary heart disease (CHD) is ascribed to hypoalphalipoproteinemia, or high density... (604091) more...

Wikipedia:68 Hypoalphalipoproteinemia is a high-density lipoprotein deficiency, inherited in an autosomal dominant... more...

Related Diseases for Hypoalphalipoproteinemia

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

(show top 50)    (show all 136)
idRelated DiseaseScoreTop Affiliating Genes
1obesity28.1ABCA1, APOA1, APOB, GGT1, LCAT, LDLR
2myocardial infarction27.9APOA1, APOA2, APOB, APOC3, CETP, LCAT
3abca1-associated familial high density lipoprotein deficiency12.7
4abca1-related familial high density lipoprotein deficiency12.7
5apoa1-associated familial high density lipoprotein deficiency12.7
6tangier disease12.0
7apolipoprotein a-i deficiency11.5
8spondylometaphyseal dysplasia, megarbane-dagher-melike type10.4LIPC, LPL
9spastic cerebral palsy10.4
10spinocerebellar ataxia 410.3APOA1, APOA2, LCAT
11amelogenesis imperfecta, type iia310.3APOA1, LIPC, LPL
12hypertriglyceridemia10.3
13hypolipoproteinemia10.3
14hereditary antithrombin deficiency10.3APOA1, APOA2
15amyloidosis beta2m10.3APOA1, LCAT, LPA
16hepatitis10.3
17folic acid deficiency anemia10.3GGT1, LCAT
18neuroblastoma10.3
19duodenal ulcer10.3
20duodenitis10.3
21afibrinogenemia, congenital10.2APOA1, APOA2, LPA
22extensor tendons of finger anomalies10.2ABCA1, APOA1, CETP
23arthritis10.2
24neuronitis10.2
25endotheliitis10.2
26renal cell carcinoma10.1
27lipid metabolism disorder10.1APOB, LPA
28ischemic optic neuropathy10.1APOA1, APOB, LPL
29frontal lobe epilepsy10.1
30kallmann syndrome10.1
31neuronal ceroid lipofuscinosis10.0APOB, LIPC, LPL
32multiple epiphyseal dysplasia10.0APOA1, APOB, LPA
33rheumatoid arthritis10.0
34hepatocellular carcinoma10.0
35celiac disease10.0
36williams-beuren syndrome10.0
37denys-drash syndrome10.0
38fabry disease10.0
39pulmonary hypertension10.0
40acute myocardial infarction10.0
41chondromalacia patellae10.0
42gastric cancer10.0
43hepatitis b10.0
44ischemic heart disease10.0
45liver disease10.0
46polycystic ovary syndrome10.0
47primary biliary cirrhosis10.0
48restless legs syndrome10.0
49glomerulosclerosis10.0
50spastic ataxia10.0

Graphical network of the top 20 diseases related to Hypoalphalipoproteinemia:



Diseases related to hypoalphalipoproteinemia

Symptoms for Hypoalphalipoproteinemia

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Clinical features from OMIM:

604091

HPO human phenotypes related to Hypoalphalipoproteinemia:

(show all 14)
id Description Frequency HPO Source Accession
1 multiple lipomas hallmark (90%) HP:0001012
2 coronary artery disease hallmark (90%) HP:0001677
3 cerebral ischemia hallmark (90%) HP:0002637
4 abnormality of lipid metabolism hallmark (90%) HP:0003119
5 opacification of the corneal stroma hallmark (90%) HP:0007759
6 hemiplegia/hemiparesis typical (50%) HP:0004374
7 emg abnormality typical (50%) HP:0003457
8 abnormality of lipid metabolism typical (50%) HP:0003119
9 lymphadenopathy typical (50%) HP:0002716
10 anemia typical (50%) HP:0001903
11 splenomegaly typical (50%) HP:0001744
12 abnormality of the liver typical (50%) HP:0001392
13 sudden cardiac death occasional (7.5%) HP:0001645
14 hypoalphalipoproteinemia HP:0003233

Drugs & Therapeutics for Hypoalphalipoproteinemia

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

(show all 23)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Folic Acidapproved, nutraceuticalPhase 4292459-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic Acid
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
 
Folsaeure
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
2
Niacinapproved, investigational, nutraceuticalPhase 436159-67-6938
Synonyms:
3-Carboxylpyridine
3-Carboxypyridine
3-Pyridinecarboxylate
3-Pyridinecarboxylic acid
3-Pyridylcarboxylate
3-Pyridylcarboxylic acid
3-carboxypyridine
Acide Nicotinique
Acido nicotinico
Acidum Nicotinicum
Akotin
Anti-pellagra vitamin
Apelagrin
Daskil
Efacin
Enduracin
Linic
M-Pyridinecarboxylic Acid
Niac
Niacin
Niacine
Niacor
Niaspan
Niaspan ER
Nicacid
Nicamin
 
Nicangin
Nico-Span
Nicobid
Nicocap
Nicodelmine
Nicolar
Niconacid
Nicosan 3
Nicotinate
Nicotinic Acid
Nicotinic acid
Nicotinipca
Nicyl
Nikotinsaeure
Nyclin
P.P. factor
PP Factor
Pellagra preventive factor
Pellagrin
Pelonin
Pyridine-beta-carboxylic acid
Slo-niacin
Vitamin B3
Wampocap
beta-Pyridinecarboxylic acid
pyridine-β-carboxylic acid
β-pyridinecarboxylic acid
3Nicotinic AcidsPhase 4361
4Trace ElementsPhase 43900
5Vasodilator AgentsPhase 42926
6VitaminsPhase 43857
7AntimetabolitesPhase 49454
8Hypolipidemic AgentsPhase 42228
9MicronutrientsPhase 43901
10Vitamin B ComplexPhase 42847
11Vitamin B9NutraceuticalPhase 42924
12Vitamin B3NutraceuticalPhase 4361
13
Nicotinamideexperimental, NutraceuticalPhase 435398-92-0936
Synonyms:
.beta.-Pyridinecarboxamide
11032-50-1
123574-63-0
1yc5
3 Pyridinecarboxamide
3-Carbamoylpyridine
3-Pyridinecarboxamide
3-Pyridinecarboxylic acid amide
37321-14-5
47865U_SUPELCO
55600-01-6
63748-44-7
72340_FLUKA
72340_SIGMA
72347_FLUKA
78731-47-2
98-92-0
A186B02E-6C70-4E54-9739-79398D439AAA
AC-907/25014114
AC1L1ACZ
AC1Q4ZFV
AI3-02906
Acid amide
Amid kyseliny nikotinove
Amid kyseliny nikotinove [Czech]
Amide PP
Aminicotin
Amixicotyn
Amnicotin
Astra Brand of Niacinamide
Austrovit PP
B 3, Vitamin
B3, Vitamin
BB_NC-2290
Benicot
C00153
C6H6N2O
CCRIS 1901
CHEBI:17154
CHEMBL1140
CID936
CPD000058212
D00036
D009536
DB02701
DEA No. 1405
Delonin Amide
Delonin amide
Dipegyl
Dipigyl
EINECS 202-713-4
EINECS 234-265-0
Endobion
Enduramide
Factor pp
HMS2052M21
HMS2090B05
HMS2093H03
HSDB 1237
Hansamid
I02-1741
I02-2250
InChI=1/C6H6N2O/c7-6(9)5-2-1-3-8-4-5/h1-4H,(H2,7,9
Inovitan PP
Jenapharm Brand of Niacinamide
Jenapharm, Nicotinsaureamid
LS-2051
MLS000069714
Mediatric
Merck Brand of Niacinamide
MolMap_000061
MolPort-001-783-876
N0078
N0636_SIGMA
N2142_SIGMA
N3376_SIGMA
N5535_SIAL
NAM
NCGC00093354-03
NCGC00093354-04
NSC 13128
NSC13128
NSC27452
Nandervit-N
Niacevit
Niacinamide
Niacinamide (USP)
Niacinamide Astra Brand
Niacinamide Jenapharm Brand
Niacinamide Merck Brand
 
Niacinamide Pharmagenix Brand
Niacinamide [USAN]
Niacinamide, Nicotinic acid amide, Nicotinamide
Niacotinamide
Niamide
Niavit PP
Nicamide
Nicamina
Nicamindon
Nicasir
Nicobion
Nicofort
Nicogen
Nicomidol
Nicosan 2
Nicosylamide
Nicota
Nicotamide
Nicotilamide
Nicotililamido
Nicotinamid
Nicotinamida
Nicotinamida [INN-Spanish]
Nicotinamide
Nicotinamide (JP15/INN)
Nicotinamide (Niacinamide)
Nicotinamide, niacin, vitamin B3
Nicotinamide-carbonyl-14C
Nicotinamidum
Nicotinamidum [INN-Latin]
Nicotine acid amide
Nicotine amide
Nicotinic acid amide
Nicotinic amide
Nicotinsaeureamid
Nicotinsaureamid
Nicotinsaureamid Jenapharm
Nicotinsaureamid [German]
Nicotol
Nicotylamide
Nicotylamidum
Nicovel
Nicovit
Nicovitina
Nicovitol
Nicozymin
Nictoamide
Nikasan
Nikazan
Niko-tamin
Nikotinamid
Nikotinsaeureamid
Nikotinsaeureamid [German]
Niocinamide
Niozymin
PP-Faktor
Papulex
Pelmin
Pelmine
Pelonin amide
Pharmagenix Brand of Niacinamide
Propamine A
Pyridine-3-carboxylic acid amide
S1899_Selleck
SAM001246860
SGCUT00176
SMR000058212
Savacotyl
UNII-25X51I8RD4
Vi-Nicotyl
Vi-noctyl
Vitamin B
Vitamin B (VAN)
Vitamin B 3
Vitamin B3
Vitamin H1
Vitamin PP
WLN: T6NJ CVZ
Witamina PP
ZINC00005878
b-Pyridinecarboxamide
beta-Pyridinecarboxamide
bmse000281
m-(Aminocarbonyl)pyridine
nchembio.154-comp4
nchembio.73-comp6
niacin - Vitamin B3
niacinamide
nicotinamide
pyridine-3-carboxamide
to_000073
vitamin PP
14FolateNutraceuticalPhase 42924
15
Fenofibrateapproved16049562-28-93339
Synonyms:
2-(4-(4-Chlorobenzoyl)phenoxy)-2-methylpropanoic acid 1-methylethyl ester
49562-28-9
AB00052196
AC-4227
AC1L1FPK
AKOS005107777
AZU, Fenofibrat
AbZ Brand of Procetofen
Abbott Brand of Procetofen
Aliud Brand of Procetofen
Ankebin
Antara
Antara (TN)
Antara (micronized)
Antara Micronized Procetofen
Anto Brand of Procetofen
Apo Feno Micro
Apo Fenofibrate
Apo-Feno-Micro
Apo-Fenofibrate
Apotex Brand of Procetofen
Azupharma Brand of Procetofen
BIDD:GT0574
BPBio1_000166
BRD-K50388907-001-05-6
BRN 2062462
BSPBio_000150
BSPBio_003162
Bouchara Brand of Procetofen
C07586
C20H21ClO4
CAS-49562-28-9
CCRIS 7282
CHEBI:5001
CHEMBL672
CID3339
CIP-Fenofibrate
CPD000058299
Controlip
D00565
D011345
DB01039
Debat, Fenofibrate
DivK1c_000557
EINECS 256-376-3
EU-0100486
Elasterate
Elasterin
F 6020
F6020_SIGMA
FENOFIBRATE (MICRONIZED)
FNF
Fenobeta
Fenobrate
Fenofanton
Fenofibrat AL
Fenofibrat AZU
Fenofibrat AbZ
Fenofibrat FPh
Fenofibrat Heumann
Fenofibrat Hexal
Fenofibrat Stada
Fenofibrat ratiopharm
Fenofibrat-ratiopharm
Fenofibrate
Fenofibrate (JAN/INN)
Fenofibrate Debat
Fenofibrate IDD-P
Fenofibrate MSD
Fenofibrate [INN:BAN]
Fenofibrato
Fenofibrato [INN-Spanish]
Fenofibratum
Fenofibratum [INN-Latin]
Fenofibric Acid
Fenofibric Acid Delayed-Release
Fenofibric acid
Fenogal
Fenoglide
Fenomax
Fenotard
Fibricor
Finofibrate
Fournier Brand of Procetofen
Fulcro
GNR Pharma Brand of Procetofen
GNR-Pharma Brand of Procetofen
GRS-027
Gate Brand of Procetofen
Gen Fenofibrate
Gen-Fenofibrate
Genpharm Brand of Procetofen
HMS1568H12
HMS1921B17
HMS2090G20
HMS2092B05
HMS501L19
Heumann Brand of Procetofen
Heumann, Fenofibrat
Hexal Brand of Procetofen
Hexal, Fenofibrat
I06-0048
IDI1_000557
Isopropyl (4'-(P-chlorobenzoyl)-2-phenoxy-2-methyl)propionate
Isopropyl 2-(4-(4-chlorobenzoyl)phenoxy)-2-methylpropionate
Isopropyl 2-(p-(p-chlorobenzoyl)phenoxy)-2-methylpropionate
KBio1_000557
KBio2_001730
KBio2_004298
KBio2_006866
KBio3_002382
KBioGR_000706
KBioSS_001730
Knoll Brand of Procetofen
LCP-Feno
LCP-FenoChol
 
LF 178
LF-178
LF178
LS-121256
Lichtenstein Brand of Procetofen
Lipanthyl
Lipantil
Lipantil (TN)
Lipantil (tn)
Liparison
Lipidex
Lipidil
Lipidil Micro
Lipidil Supra
Lipidil Ter
Lipidil-Ter
Lipifen
Lipirex
Lipoclar
Lipofen
Lipofen (TN)
Lipofene
Liposit
Lipsin
Lofibra
Lopac-F-6020
Lopac0_000486
Luxacor
MLS000028515
MLS001148191
MTW Brand of Procetofen
MTW Fenofibrat
MTW-Fenofibrat
Merck dura Brand of Procetofen
Micronized Procetofen, Antara
MolPort-002-887-051
NCGC00015437-01
NCGC00015437-02
NCGC00015437-03
NCGC00015437-06
NCGC00015437-12
NCGC00021475-03
NCGC00021475-04
NCGC00021475-05
NCGC00021475-06
NCGC00021475-07
NCGC00021475-08
NINDS_000557
NSC 281319
NSC281319
Nolipax
Novartis Brand of Procetofen
Novo Fenofibrate
Novo-Fenofibrate
Novopharm Brand of Procetofen
Nu Fenofibrate
Nu Pharm Brand of Procetofen
Nu-Fenofibrate
Nu-Pharm Brand of Procetofen
PMS Fenofibrate Micro
PMS-Fenofibrate Micro
Pharmascience Brand of Procetofen
Pharmavit
Phenofibrate
Prestwick0_000275
Prestwick1_000275
Prestwick2_000275
Prestwick3_000275
Prestwick_217
Procetofen
Procetofen Reliant Brand
Procetofen, Antara Micronized
Procetofene
Proctofene
Protolipan
Q Pharm Brand of Procetofen
Q-Pharm Brand of Procetofen
Reliant Brand of Procetofen
S1794_Selleck
SAM002264613
SMR000058299
SPBio_001380
SPBio_002369
SPECTRUM1501010
ST085313
Schering Plough Brand of Procetofen
Schering-Plough Brand of Procetofen
Secalip
Sedufen
Spectrum2_001390
Spectrum3_001431
Spectrum4_000413
Spectrum5_001479
Spectrum_001250
Stada, Fenofibrat
Stadapharm Brand of Procetofen
Supralip
TL8003296
TRICOR (MICRONIZED)
Tricor
Tricor (TN)
Tricor (tn)
Triglide
Triglide (TN)
Trilipix
UNII-U202363UOS
United Drug Brand of Procetofen
ZINC00584092
betapharm Brand of Procetofen
ct Arzneimittel Brand of Procetofen
ct-Arzneimittel Brand of Procetofen
durafenat
fenofibrat von ct
fenofibrate
fenofibric acid
isopropyl 2-[4-(4-chlorobenzoyl)phenoxy]-2-methylpropanoate
nchembio790-comp24
ratiopharm Brand of Procetofen
16
Adenosineapproved, investigational36358-61-760961
Synonyms:
(2R,3R,4S,5R)-2-(6-Aminopurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3R,4S,5R)-2-(6-amino-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
1-(6-Amino-9H-purin-9-yl)-1-deoxy-beta-D-Ribofuranose
1-(6-Amino-9H-purin-9-yl)-1-deoxy-beta-delta-Ribofuranose
1odi
2fqy
2gl0
30143-02-3
4-Aminopyrazolo[3,4-d]pyrimidine ribonucleoside
46946-45-6
46969-16-8
58-61-7
6-Amino-9-.beta.-ribofuranosyl-9H-purine
6-Amino-9-beta-D-ribofuranosyl-9H-purine
6-Amino-9beta-D-ribofuranosyl-9H-purine
6-Amino-9beta-delta-ribofuranosyl-9H-purine
9-(beta-D-Arabinofuranosyl)adenine
9-beta-D-Arabinofuranosyladenine
9-beta-D-Ribofuranosidoadenine
9-beta-D-Ribofuranosyl-9H-purin-6-amine
9-beta-D-Ribofuranosyladenine
9-beta-delta-Arabinofuranosyladenine
9-beta-delta-Ribofuranosidoadenine
9-beta-delta-Ribofuranosyl-9H-purin-6-amine
9-beta-delta-Ribofuranosyladenine
9beta-D-Ribofuranosyladenine
9beta-D-ribofuranosyl-9H-Purin-6-amine
9beta-delta-Ribofuranosyladenine
9beta-delta-ribofuranosyl-9H-Purin-6-amine
A0152
A4036_SIGMA
A9251_SIGMA
AC1L1U8O
AC1Q1ID3
AC1Q52XU
ADN
AI3-52413
Ade-Rib
Ade-rib
Adenin riboside
Adenine 9-beta-D-arabinofuranoside
Adenine deoxyribonucleoside
Adenine nucleoside
Adenine riboside
Adenine-9-beta-D-ribofuranoside
Adenine-9beta-D-Ribofuranoside
Adenine-9beta-delta-Ribofuranoside
Adenocard
Adenocard (TN)
Adenocard, Adenosine
Adenocor
Adenoscan
Adenoscan (TN)
Adenosin
Adenosin [German]
Adenosina
Adenosine
Adenosine (JAN/USP)
Adenosine [USAN:BAN]
Adenosine, homopolymer
Adenosinum
Adensoine
Adenyldeoxyriboside
Ado
Adénosine
BB_NC-0565
BSPBio_001796
Bio1_000437
 
Bio1_000926
Bio1_001415
Boniton
C00212
CCRIS 2557
CHEBI:16335
CHEMBL477
CID60961
Caswell No. 010B
D000241
D00045
DB00640
Deoxyadenosine
Desoxyadenosine
EA6C60C2-6AFB-4264-A2F0-541373DB950E
EINECS 200-389-9
FT-0082881
HMS1920A13
HMS2091G13
KBio3_001296
LS-15085
MEDR-640
MLS000069638
MLS002153227
MolPort-001-838-229
Myocol
NCGC00023673-03
NCGC00023673-04
NCGC00023673-05
NCGC00023673-06
NCGC00023673-07
NSC 627048
NSC 7652
NSC627048
NSC7652
Nucleocardyl
Pallacor
Polyadenosine
Polyriboadenosine
S1647_Selleck
SDCCGMLS-0003108.P003
SMR000058216
SPBio_001194
SPECTRUM1500107
SR 96225
SR-96225
SUN-Y4001
Sandesin
Spectrum2_001257
Spectrum3_000288
TL8003749
UNII-K72T3FS567
USAF CB-10
V0098
Vidarabine
ZINC02169830
adenine-D-ribose
adenosine
b-D-Adenosine
beta-Adenosine
beta-D-Adenosine
beta-D-Ribofuranoside, adenine-9
beta-delta-Adenosine
bmse000061
nchembio.143-comp9
nchembio.186-comp109
nchembio.2007.56-comp13
nchembio.64-comp4
nchembio706-5
17Hydroxymethylglutaryl-CoA Reductase Inhibitors1804
18Clofibric Acid19882-09-7
19Atorvastatin Calcium714134523-03-8
20Liver Extracts3572
21Pharmaceutical Solutions7004
22TomatoNutraceutical48
23
LycopeneNutraceutical57502-65-8446925
Synonyms:
(6E,8E,10E,12E,14E,16E,18E,20E,22E,24E,26E)-2,6,10,14,19,23,27,31-Octamethyl-2,6,8,10,12,14,16,18,20,22,24,26,30-dotriacontatridecaene
(all-E)-2,6,10,14,19,23,27,31-Octamethyl-2,6,8,10,12,14,16,18,20,22,24,26,30-dotriacontatridecaene
All-trans-Lycopene
 
Lyco Vit
Lycopene
Lycopene 7
trans-Lycopene

Interventional clinical trials:

(show all 13)
idNameStatusNCT IDPhase
1Short-term Effect of Extended-release Niacin on Endothelial Function.CompletedNCT01942291Phase 4
2Effect of High Protein Diet on Adiponectin and Inflammation Among Overweight and Obese ChildrenCompletedNCT01886495Phase 3
3Effect of High Protein Diet on Cardiovascular Diseases Risk Factors Among Overweight and Obese ChildrenCompletedNCT01886482Phase 3
4High Protein Weight Loss Diet, High Sensitivity C-Reactive Protein and Cardiovascular Risks Among Obese WomenCompletedNCT01763528Phase 3
5CER-001 Therapy as a Novel Approach to Treat Genetic Orphan DiseasesRecruitingNCT02697136Phase 3
6High-Density Lipoprotein (HDL) Treatment StudyCompletedNCT00458055
7Tomato Consumption and High Density Lipoprotein-cholesterolCompletedNCT01342666
8Quantitative Genetic Analysis of Lipid Research Clinic Family DataCompletedNCT00005188
9Peripheral Arterial Insufficiency Associated With HIV/AIDSCompletedNCT02264509
10Hypertriglyceridaemia - Cause and EffectsRecruitingNCT02195050
11Causes and Natural History of DyslipidemiasRecruitingNCT00353782
12Evaluation of LipoproteinsRecruitingNCT00001168
13Mendelian Reverse Cholesterol Transport StudyRecruitingNCT01782027

Search NIH Clinical Center for Hypoalphalipoproteinemia

Genetic Tests for Hypoalphalipoproteinemia

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Anatomical Context for Hypoalphalipoproteinemia

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MalaCards organs/tissues related to Hypoalphalipoproteinemia:

33
Liver, Heart, Endothelial, Lung, Neutrophil, Testes

Animal Models for Hypoalphalipoproteinemia or affiliated genes

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MGI Mouse Phenotypes related to Hypoalphalipoproteinemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.1ABCA1, APOA1, GBA, GGT1, LCAT, LDLR
2MP:00107717.7APOA1, GBA, GGT1, LDLR, LPL, PPARA
3MP:00053707.6ABCA1, APOA1, APOB, GBA, LCAT, LDLR
4MP:00053857.1ABCA1, APOA1, APOB, GBA, LCAT, LDLR
5MP:00053765.4ABCA1, APOA1, APOA2, APOB, GBA, GGT1

Publications for Hypoalphalipoproteinemia

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Articles related to Hypoalphalipoproteinemia:

(show top 50)    (show all 75)
idTitleAuthorsYear
1
Consequences of Expiratory Flow Limitation at Rest in Subjects with Cystic Fibrosis. (27219817)
2016
2
Promoter polymorphism of the serotonin transporter gene influences the number of sexual partners and smoking habits in a Mexican Mestizo population. (25919451)
2015
3
EGFR, HER-2 and KRAS in canine gastric epithelial tumors: a potential human model? (24454858)
2014
4
Venous thromboembolism in 2013: The advent of the novel oral anticoagulants. (24419256)
2014
5
Comparative analysis of smoking influence on periodontal tissue in subjects with periodontal disease. (24167435)
2013
6
5 year efficacy of a bivalent killed whole-cell oral cholera vaccine in Kolkata, India: a cluster-randomised, double-blind, placebo-controlled trial. (24140390)
2013
7
miR-126&126* restored expressions play a tumor suppressor role by directly regulating ADAM9 and MMP7 in melanoma. (23437250)
2013
8
Small fibre pathology in patients with fibromyalgia syndrome. (23474848)
2013
9
Overexpression of thrombospondin-1 in stromal myofibroblasts is associated with tumor growth and nodal metastasis in gastric carcinoma. (22231149)
2012
10
Neurosarcoidosis: guidance for the general neurologist. (22510740)
2012
11
Nodal expression and detection in cancer: experience and challenges. (22508696)
2012
12
Personality disorder features and insomnia status amongst hypnotic-dependent adults. (22938862)
2012
13
Coxiella burnetii (Q fever) in Rattus norvegicus and Rattus rattus at livestock farms and urban locations in the Netherlands; could Rattus spp. represent reservoirs for (re)introduction? (21640416)
2011
14
Up-regulation of the Apo/Fas (CD95) complex on neutrophils harvested during cardiac surgery: distinct findings in patients operated on with or without the use of cardiopulmonary bypass. (20164160)
2010
15
Personal and environmental risk factors for active trachoma in children in Yobe state, north-eastern Nigeria. (20002619)
2010
16
Cerebellar ataxia following snake bite. (21125785)
2010
17
AMP-activated protein kinase inhibits alkaline pH- and PKA-induced apical vacuolar H+-ATPase accumulation in epididymal clear cells. (19211918)
2009
18
Syncope and facial blushing due to giant intrapulmonary bronchogenic cyst. (19515886)
2009
19
Magnetic enzyme carrier for effective biofouling control in the membrane bioreactor based on enzymatic quorum quenching. (19848153)
2009
20
Levels changes of blood leukocytes and intracellular signalling pathways in COPD patients with respect to smoking attitude. (18206650)
2008
21
A new species of Henneguya (Myxozoa) in the big-eyed scad (Selar crumenophthalmus) from Hawaii. (18564755)
2008
22
Genetic susceptibility and haplotype analysis between Fcgamma receptor IIB and IIIA gene with systemic lupus erythematosus in Chinese population. (18625651)
2008
23
Circulating 11beta-hydroxysteroid dehydrogenase type 1 mRNA and cardiovascular risk factors. (18837961)
2008
24
A polymorphism of the CYP17 gene related to sex steroid metabolism is associated with female-to-male but not male-to-female transsexualism. (17765230)
2008
25
Targeting the PI3K p110alpha isoform inhibits medulloblastoma proliferation, chemoresistance, and migration. (18980969)
2008
26
UDP-glucuronosyltransferase 2B7 C802T (His268Tyr) polymorphism in bladder cancer cases. (18569595)
2008
27
Prolonged human chorionic gonadotrophin stimulation as a tool for investigating and managing undescended testes. (17645564)
2007
28
Urinary eosinophil protein X in children with atopic asthma. (17641730)
2007
29
Aniline-induced methaemoglobinaemia in a glucose-6-phosphate dehydrogenase enzyme deficient patient. (17444323)
2007
30
Pharmacokinetics and response to pravastatin in paediatric patients with familial hypercholesterolaemia and in paediatric cardiac transplant recipients in relation to polymorphisms of the SLCO1B1 and ABCB1 genes. (16722833)
2006
31
Acute myocardial infarction following an arthropod bite: is hereditary thrombophilia a contributing factor? (16988555)
2006
32
Inactivation of the Snf5 tumor suppressor stimulates cell cycle progression and cooperates with p53 loss in oncogenic transformation. (16301525)
2005
33
Increased alpha 7 nicotinic acetylcholine receptor protein levels in Alzheimer's disease patients. (15591800)
2005
34
Genetic interactions between RAD51 and its paralogues for centrosome fragmentation and ploidy control, independently of the sensitivity to genotoxic stresses. (15782136)
2005
35
Effect of atorvastatin on lipid parameters, LDL subtype distribution, hemorrheological parameters and adhesion molecule concentrations in patients with hypertriglyceridemia. (12929621)
2003
36
Severe rhabdomyolysis after laparoscopic surgery for adenocarcinoma of the rectum in two patients treated with statins. (12357176)
2002
37
alpha(1)-Antitrypsin deficiency as a result of compound heterozygosity for the Z and M(Heerlen) alleles. (11325919)
2001
38
Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation. (10766988)
2000
39
Bilateral brachial artery fibromuscular dysplasia. (10873738)
2000
40
cAMP-dependent Cl(-) channel protein (CFTR) and its mRNA are expressed in the secretory portion of human eccrine sweat gland. (10681388)
2000
41
Tinea barbae due to Trichophyton rubrum with possible involvement of autoinoculation. (10809886)
2000
42
NURD, a novel complex with both ATP-dependent chromatin-remodeling and histone deacetylase activities. (9885572)
1998
43
Chemosignal transduction in the vomeronasal organ of garter snakes: cloning of a gene encoding adenylate cyclase from the vomeronasal organ of garter snakes. (9841634)
1998
44
An intravitreal sustained-release triamcinolone and 5-fluorouracil codrug in the treatment of experimental proliferative vitreoretinopathy. (9445210)
1998
45
Nephrogenic adenoma arising in an urethral diverticulum. (9240199)
1997
46
Frequency and clinical significance of the MLL gene rearrangements in infant acute leukemia. (8709635)
1996
47
Parotid sialolithiasis in a child. (8634200)
1995
48
Induction of HLA class I mRNA by cytokines in human fibroblasts: comparison of TNF, IL-1 and IFN-beta. (1292634)
1992
49
Therapeutic effect of the triazole Bay R 3783 in mouse models of coccidioidomycosis, blastomycosis, and histoplasmosis. (2393272)
1990
50
The replication of viral and cellular DNA in human herpesvirus 6-infected cells. (2155509)
1990

Variations for Hypoalphalipoproteinemia

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UniProtKB/Swiss-Prot genetic disease variations for Hypoalphalipoproteinemia:

67
id Symbol AA change Variation ID SNP ID
1ABCA1p.Arg230CysVAR_012619rs9282541
2ABCA1p.Met1091ThrVAR_012628
3ABCA1p.Pro2150LeuVAR_012636
4ABCA1p.Pro85LeuVAR_017529rs145183203
5ABCA1p.Asp1099TyrVAR_017530rs28933692
6ABCA1p.Phe2009SerVAR_037971

Clinvar genetic disease variations for Hypoalphalipoproteinemia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1APOA1APOA1, 1-BP INSinsertionPathogenic
2APOA1APOA1, IVS2, G-C, +1single nucleotide variantPathogenic
3ABCA1NM_005502.3(ABCA1): c.3295G> T (p.Asp1099Tyr)single nucleotide variantPathogenicrs28933692GRCh37Chr 9, 107581111: 107581111
4ABCA1NM_005502.3(ABCA1): c.6026T> C (p.Phe2009Ser)single nucleotide variantPathogenicrs137854499GRCh37Chr 9, 107550750: 107550750
5ABCA1NM_005502.3(ABCA1): c.3847_3850delCGCC (p.Pro1284Serfs)deletionPathogenicrs387906415GRCh37Chr 9, 107576450: 107576453

Expression for genes affiliated with Hypoalphalipoproteinemia

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Search GEO for disease gene expression data for Hypoalphalipoproteinemia.

Pathways for genes affiliated with Hypoalphalipoproteinemia

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Pathways related to Hypoalphalipoproteinemia according to GeneCards Suite gene sharing:

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
19.8ABCA1, APOA1, APOA2
29.5ABCA1, APOA1, APOB
3
Show member pathways
9.5LIPC, LPL, SLC25A20
49.0LPL, PPARA, RORA
58.8ABCA1, LDLR, PPARA
6
Show member pathways
8.4APOA1, APOA2, APOC3, LPL, PLTP, PPARA
7
Show member pathways
8.4ABCA1, APOA1, APOB, GGT1, LDLR
8
Show member pathways
8.0APOA1, APOA2, APOB, APOC3, GBA, LDLR
9
Show member pathways
8.0APOA1, APOA2, APOB, APOC3, GBA, LDLR
10
Show member pathways
7.9ABCA1, APOA1, APOA2, LPL, PPARA, RORA
11
Show member pathways
7.1ABCA1, APOA1, APOA2, APOB, APOC3, CETP
12
Show member pathways
6.8ABCA1, APOA1, APOA2, APOB, APOC3, CETP
13
Show member pathways
4.2ABCA1, APOA1, APOA2, APOB, APOC3, CETP

GO Terms for genes affiliated with Hypoalphalipoproteinemia

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Cellular components related to Hypoalphalipoproteinemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intermediate-density lipoprotein particleGO:003436310.1APOB, APOC3
2clathrin-coated endocytic vesicle membraneGO:00306699.8APOB, LDLR
3early endosomeGO:00057699.2APOA1, APOA2, APOB, APOC3
4Golgi apparatusGO:00057949.0APOB, LDLR

Biological processes related to Hypoalphalipoproteinemia according to GeneCards Suite gene sharing:

(show all 37)
idNameGO IDScoreTop Affiliating Genes
1peptidyl-methionine modificationGO:001820610.7APOA1, APOA2
2positive regulation of cholesterol esterificationGO:001087310.7APOA1, APOA2
3lipoprotein biosynthetic processGO:004215810.7APOA1, APOA2
4chylomicron remodelingGO:003437110.6LIPC, LPL
5phosphatidylcholine metabolic processGO:004647010.6CETP, LCAT
6protein oxidationGO:001815810.5APOA1, APOA2
7phospholipid effluxGO:003370010.4APOA1, APOA2, APOC3
8low-density lipoprotein particle remodelingGO:003437410.4APOA2, APOB
9phospholipid homeostasisGO:005509110.4ABCA1, APOA1, CETP
10positive regulation of macrophage derived foam cell differentiationGO:001074410.3APOB, LPL
11cholesterol importGO:007050810.3APOA1, LDLR
12phosphatidylcholine biosynthetic processGO:000665610.3APOA1, APOA2, LCAT
13very-low-density lipoprotein particle assemblyGO:003437910.3APOB, APOC3
14regulation of cholesterol homeostasisGO:200018810.2LDLR, RORA
15response to nutrientGO:000758410.2ABCA1, APOA1, APOC3
16response to glucocorticoidGO:005138410.1GBA, LCAT, LIPC
17triglyceride catabolic processGO:001943310.0APOB, APOC3, LPL
18lipoprotein catabolic processGO:004215910.0APOB, LDLR
19low-density lipoprotein particle clearanceGO:00343839.9APOB, LIPC
20phospholipid transportGO:00159149.9ABCA1, CETP, LDLR
21cholesterol metabolic processGO:00082039.9APOB, LDLR
22triglyceride metabolic processGO:00066419.9APOA2, APOC3, CETP, LIPC
23triglyceride homeostasisGO:00703289.9APOA1, CETP, LPL, RORA
24cholesterol effluxGO:00333449.8ABCA1, APOA1, APOA2, APOB
25cholesterol transportGO:00303019.7ABCA1, APOA2, CETP, LCAT, LIPC
26reverse cholesterol transportGO:00436919.7ABCA1, APOA1, APOA2, APOC3, LCAT, LIPC
27response to estrogenGO:00436279.6APOA1, APOA2, GBA
28retinoid metabolic processGO:00015239.6APOA1, APOB, APOC3, LPL
29phototransduction, visible lightGO:00076039.3APOA1, APOA2, APOB, APOC3, LPL
30response to drugGO:00424939.2APOA1, APOA2, APOC3, LIPC
31high-density lipoprotein particle remodelingGO:00343759.2APOA1, APOA2, APOC3, CETP, LCAT, LIPC
32negative regulation of inflammatory responseGO:00507289.2APOA1, GBA, PPARA, RORA
33lipoprotein metabolic processGO:00421579.0ABCA1, APOC3, LPA, LPL, PPARA
34lipid transportGO:00068699.0APOA2, APOB, APOC3, CETP, LPA, PLTP
35cholesterol homeostasisGO:00426328.9ABCA1, APOA2, APOC3, LDLR, LIPC, LPL
36lipid metabolic processGO:00066298.8APOB, LCAT, LIPC, LPL, PPARA
37small molecule metabolic processGO:00442817.8ABCA1, APOA1, APOA2, APOC3, LCAT, LIPC

Molecular functions related to Hypoalphalipoproteinemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1high-density lipoprotein particle bindingGO:000803510.1APOA1, APOA2
2heparin bindingGO:000820110.0LIPC, LPL
3high-density lipoprotein particle receptor bindingGO:00706539.9APOA1, APOA2, APOC3

Sources for Hypoalphalipoproteinemia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet