MCID: LPP001
MIFTS: 51

Lipoprotein Lipase Deficiency malady

Category: Genetic diseases (common)

Aliases & Classifications for Lipoprotein Lipase Deficiency

About this section

Aliases & Descriptions for Lipoprotein Lipase Deficiency:

Name: Lipoprotein Lipase Deficiency 49 11 67
Hyperlipoproteinemia Type Ia 67
Hyperlipoproteinemia Type 1a 67
Hyperlipoproteinemia Type I 65
 
Familial Chylomicronemia 67
Lipoprotein Lipase 11
Lpl Deficiency 67

Characteristics:

HPO:

61
lipoprotein lipase deficiency:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 238600

Summaries for Lipoprotein Lipase Deficiency

About this section
UniProtKB/Swiss-Prot:67 Lipoprotein lipase deficiency: Recessive disorder usually manifesting in childhood. On a normal diet, patients often present with abdominal pain, hepatosplenomegaly, lipemia retinalis, eruptive xanthomata, and massive hypertriglyceridemia, sometimes complicated with acute pancreatitis.

MalaCards based summary: Lipoprotein Lipase Deficiency, also known as hyperlipoproteinemia type ia, is related to obesity and familial lipoprotein lipase deficiency, and has symptoms including hyperchylomicronemia, hypercholesterolemia and hyperlipidemia. An important gene associated with Lipoprotein Lipase Deficiency is LPL (Lipoprotein Lipase), and among its related pathways are Vitamin digestion and absorption and PPAR signaling pathway. Affiliated tissues include liver, t cells and monocytes, and related mouse phenotypes are liver/biliary system and vision/eye.

Wikipedia:68 Lipoprotein lipase deficiency (also known as \"familial chylomicronemia syndrome\", \"chylomicronemia\",... more...

Description from OMIM:49 238600

Related Diseases for Lipoprotein Lipase Deficiency

About this section

Diseases related to Lipoprotein Lipase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 180)
idRelated DiseaseScoreTop Affiliating Genes
1obesity29.4APOA1, APOB, C3, LCAT, LPL
2familial lipoprotein lipase deficiency13.0
3lipase deficiency, combined11.7
4amelogenesis imperfecta, type iia310.3APOA1, LPL
5lymphoma10.3
6arsacs10.3APOE, LPL
7retinal degeneration, late-onset, autosomal dominant10.3APOE, LPL
8spinocerebellar ataxia 410.3APOA1, LCAT
9distal myopathy with posterior leg and anterior hand involvement10.3APOE, LPL
10pigmentary cirrhosis10.2APOE, PLTP
11alzheimer disease-210.2APOE, LCAT
12prostatitis10.2
13neuropathy10.2
14extensor tendons of finger anomalies10.2APOA1, CETP
15amyloidosis beta2m10.2APOA1, LCAT, LPA
16prostate cancer10.1
17breast cancer10.1
18adenocarcinoma10.1
19retinitis10.1
20neuronitis10.1
21fascioliasis10.1
22aneurysm10.1
23neuronal ceroid lipofuscinosis10.1APOB, LPL
24hypercholesterolemia, due to ligand-defective apo b10.1APOB, APOE
25legg-calve-perthes disease10.0APOA1, APOB
26hypobetalipoproteinemia10.0APOB, LPA
27bacteriuria10.0APOB, LCAT, LPL
28carnitine deficiency, systemic primary10.0APOA1, APOB
29pheochromocytoma10.0
30neuroblastoma10.0
31porphyria cutanea tarda10.0
32systemic lupus erythematosus10.0
33carnitine-acylcarnitine translocase deficiency10.0
34myelodysplastic syndrome10.0
35hyperprolactinemia10.0
36allergic rhinitis10.0
37h. pylori infection10.0
38burkitt lymphoma10.0
39friedreich ataxia10.0
40sickle cell anemia10.0
41dentatorubro-pallidoluysian atrophy10.0
42nasopharyngeal carcinoma10.0
43neurofibromatosis, type 110.0
44hemophilia b10.0
45b-cell lymphomas10.0
46diabetic neuropathy10.0
47gastric cancer10.0
48hemangioma10.0
49hematopoietic stem cell transplantation10.0
50hepatitis10.0

Graphical network of the top 20 diseases related to Lipoprotein Lipase Deficiency:



Diseases related to lipoprotein lipase deficiency

Symptoms for Lipoprotein Lipase Deficiency

About this section

Symptoms by clinical synopsis from OMIM:

238600

Clinical features from OMIM:

238600

HPO human phenotypes related to Lipoprotein Lipase Deficiency:

(show all 12)
id Description Frequency HPO Source Accession
1 hyperchylomicronemia HP:0012238
2 hypercholesterolemia HP:0003124
3 hyperlipidemia HP:0003077
4 episodic abdominal pain HP:0002574
5 nausea HP:0002018
6 vomiting HP:0002013
7 splenomegaly HP:0001744
8 pancreatitis HP:0001733
9 hepatosplenomegaly HP:0001433
10 eruptive xanthomas HP:0001013
11 jaundice HP:0000952
12 lipemia retinalis HP:0000660

Drugs & Therapeutics for Lipoprotein Lipase Deficiency

About this section

Drugs for Lipoprotein Lipase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50)    (show all 73)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PrednisoloneapprovedPhase 2, Phase 3108250-24-85755
Synonyms:
(11beta)-11,17,21-Trihydroxypregna-1,4-diene-3,20-dione
.DELTA.1-Cortisol
.DELTA.1-Dehydrocortisol
.DELTA.1-Dehydrohydrocortisone
.DELTA.1-Hydrocortisone
.delta.-Cortef
.delta.-Stab
1,2-Dehydrohydrocortisone
1,4-Pregnadiene-11beta,17alpha,21-triol-3,20-dione
1,4-Pregnadiene-3,20-dione-11beta,17alpha,21-triol
1-Dehydrocortisol
1-Dehydrohydrocortisone
3,20-dioxo-11beta,17alpha,21-Trihydroxy-1,4-pregnadiene
46656_FLUKA
46656_RIEDEL
50-24-8
58201-11-9
8056-11-9
AC-1773
AC1L1L2E
Ak-Pred
Ak-Tate
Alphadrol
Articulose-50
BPBio1_000164
BRD-K98039984-001-03-0
BRN 1354103
BSPBio_000148
Bio-0666
Bubbli-Pred
C07369
CCRIS 980
CHEBI:8378
CHEMBL131
CID5755
CO-Hydeltra
CPD000718761
Co-Hydeltra
Codelcortone
Cordrol
Cortalone
Cotogesic
Cotolone
D00472
D011239
DB00860
Decaprednil
Decortin H
Delcortol
Delta F
Delta(1)-dehydrohydrocortisone
Delta-Cortef
Delta-Cortef (TN)
Delta-Ef-Cortelan
Delta-Stab
Delta-stab
Deltacortenol
Deltacortril
Deltacortril Enteric
Deltahydrocortisone
Deltasolone
Deltisilone
Depo-Medrol
Derpo PD
Derpo Pd
Dexa-Cortidelt Hostacortin H
Dexa-Cortidelt hostacortin H
Di Adreson F
Di-Adreson F
Di-Adreson-F
Di-adreson F
DiAdresonF
Dicortol
Donisolone
Dydeltrone
EINECS 200-021-7
Eazolin D
Econopred
Econopred Plus
Erbacort
Erbasona
Estilsona
Fernisolone
Fernisolone P
Fernisolone-P
Flamasone
Flo-pred
HMS1568H10
HMS2090J05
HSDB 3385
Hostacortin H
Hydeltra
Hydeltra-Tba
Hydeltrasol
Hydeltrone
Hydrodeltalone
Hydrodeltisone
Hydroretrocortin
Hydroretrocortine
I-Pred
Inflamase Forte
Inflamase Mild
K 1557
Key-Pred
Klismacort
LMST02030179
LS-7669
Lentosone
Lite Pred
M-Predrol
MLS001304083
 
MLS002154250
MLS002207037
Medrol
Medrol Acetate
Metacortandralone
Methylprednisolone Acetate
Meti-Derm
Meticortelone
Metreton
Millipred
MolPort-002-507-147
NCGC00179649-01
NSC 9120
NSC9120
NSC9900
Neo-Delta-Cortef
Nisolone
Nor-Pred T.B.A.
Ocu-Pred
Ocu-Pred Forte
Omnipred
Ophtho-Tate
Orapred
P0152_SIGMA
P0637
P6004_SIGMA
PRDL
PRED-G
Panafcortelone
Paracortol
Paracotol
Pediapred
Poly-Pred
Precortalon
Precortancyl
Precortilon
Precortisyl
Pred Forte
Pred Mild
Predair
Predair A
Predair Forte
Predalone 50
Predalone T.B.A.
Predate
Predate Tba
Predate-50
Predcor-25
Predcor-50
Predcor-Tba
Predisolone Sodium Phosphate
Predne-Dome
Prednelan
Predni-Dome
Prednicen
Predniliderm
Predniretard
Prednis
Prednisolona
Prednisolona [INN-Spanish]
Prednisolone
Prednisolone (JP15/USP/INN)
Prednisolone (anhydrous)
Prednisolone Acetate
Prednisolone Sodium Phosphate
Prednisolone Tebutate
Prednisolone [INN:BAN:JAN]
Prednisolonum
Prednisolonum [INN-Latin]
Predonin
Predonine
Prelone
Prenolone
Prestwick0_000274
Prestwick1_000274
Prestwick2_000274
Prestwick3_000274
Prestwick_404
Rolisone
S1737_Selleck
SAM002264639
SMR000718761
SPBio_002367
Scherisolon
Solone
Steran
Sterane
Sterolone
Supercortisol
UNII-9PHQ9Y1OLM
Ulacort
Ultra Pred
Ultracorten H
Ultracortene H
Ultracortene-H
Ultracortene-Hydrogen
Ultracortene-hydrogen
ZINC03833821
component of Ataraxoid
component of K-Predne-Dome
delta(1)-Cortisol
delta(1)-Dehydrocortisol
delta(1)-Dehydrohydrocortisone
delta(1)-Hydrocortisone
delta(sup 1)-Cortisol
delta(sup 1)-Dehydrocortisol
delta(sup 1)-Dehydrohydrocortisone
delta(sup 1)-Hydrocortisone
delta-dehydrocortisol
delta-dehydrohydrocortisone
delta-hydrocortisone
prednisolone
2
Mycophenolic acidapprovedPhase 2, Phase 389824280-93-1446541
Synonyms:
(e)-6-(4-Hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoic acid
Acide mycophenolique
Acido micofenolico
Acidum mycophenolicum
Melbex
 
Micofenolico acido
Mycophenoic acid
Mycophenolate
Mycophenolic Acid
Mycophenolsaeure
Myfortic
3
Mycophenolate mofetilapproved, investigationalPhase 2, Phase 3898128794-94-55281078
Synonyms:
115007-34-6
128794-94-5
140401-05-4
2-Morpholinoethyl (4E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (e)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-morpholin-4-ylethyl (4E)-6-[4-hydroxy-7-methyl-6-(methyloxy)-3-oxo-1,3-dihydro-2-benzofuran-5-yl]-4-methylhex-4-enoate
2-morpholin-4-ylethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)-4-methylhex-4-enoate
4-Hexenoic acid, 6-(1,3-dihydro-4-hydroxy-6-methoxy-7-methyl -3-oxo-5-isobenzofuranyl)-4-methyl-, 2-(4-morpholinyl)ethyl ester, (4E)
AC-1562
AC1NQXZW
AC1Q6O6X
AR-1J6939
BB_NC-2566
C07908
C23H31NO7
CHEMBL1456
CID5281078
CellCept
CellCept, RS 61443, TM-MMF, Mycophenolate mofetil
Cellcept
Cellcept (TN)
D00752
DB00688
HMS2090A03
 
HSDB 7436
I01-0898
I06-1947
LS-172272
LS-75572
ME-MPA
MMF
MMF CellCept(TM)
MolPort-000-883-800
Munoloc
Mycophenolate Mofetil
Mycophenolate mofetil (JAN/USAN)
Mycophenolic acid morpholinoethyl ester
Mycophenylate mofetil
NCGC00159459-02
NCGC00159459-03
NSC724229
R-99
RS 61443
RS-61443
RS-61443-190
S1501_Selleck
TL8000648
TM-MMF
UNII-9242ECW6R0
ZINC21297660
mycophenolate mofetil
4
Emtricitabineapproved, investigationalPhase 3394143491-57-060877
Synonyms:
(-)-(2R,5S)-5-Fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(-)-(2R,5S)-5-fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(-)-.beta.-L-FTC
(-)-2',3'-Dideoxy-5-fluoro-3'-thiacytidine
(-)-2'-Deoxy-5-fluoro-3'-thiacytidine
(-)-FTC
(-)-beta-2',3'-Dideoxy-5-fluoro-3'-thiacytidine
(-)-beta-2',3'-dideoxy-5-fluoro-3'-thiacytidine
(-)-cis-4-amino-5-Fluoro-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one
(-)-cis-4-amino-5-fluoro-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one
(2R-cis)-4-Amino-5-fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone
(2R-cis)-4-amino-5-Fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone
.beta.-L-(-)-(2R,5S)-5-Fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
1-(2-(Hydroxymethyl)oxathiolan-5-yl)-5-fluorocytosine
143491-54-7
143491-57-0
145213-48-5
2',3',5-FTC
2',3'-Dideoxy-5-fluoro-3'-thiacytidine
2'-Deoxy-5-fluoro-3'-oxa-4'-thiocytidine
2'-Deoxy-5-fluoro-3'-thiacytidine
2-FTC
3'-Thia-2'.3'-dideoxy-5-fluorocytidine
4-Amino-5-fluoro-1-((2R,5S)-2-hydroxymethyl-[1,3]oxathiolan-5-yl)-1H-pyrimidin-2-one
4-Amino-5-fluoro-1-[(2R,5S)-(hydroxymethyl)-1,3-oxathiolan-5-yl]-2(1H)-pyrimidinone
4-amino-5-Fluoro-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)pyrimidin-2(1H)-one
4-amino-5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2(1H)-one
4-amino-5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2-one
5-Fluoro-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine
5-Fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine
5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)[1,3]oxathiolan-5-yl]cytosine
524W91
AC1L1U3I
AC1Q4KUB
BW 1592
 
BW 524W91
BW-524W91
BW524W91
C122114
C12599
C8H10FN3O3S
CHEBI:31536
CHEMBL885
CID60877
Coviracil
Coviracil(TM)
D01199
DB00879
DRG-0208
Emtricitabin
Emtricitabina
Emtricitabine
Emtricitabine (JAN/USAN/INN)
Emtricitabinum
Emtriva
Emtriva (TN)
Emtriva(TM)
FT-0080009
HMS2089I05
HSDB 7337
LS-135838
LS-173184
NCGC00164564-01
RCV
Racivir
SBB066061
TL8000958
UNII-G70B4ETF4S
ZINC03629271
beta-L-2',3'-dideoxy-5-fluoro-3'-thiacytidine
dOTFC
emtricitabine
5
MethylprednisoloneapprovedPhase 2, Phase 3108283-43-26741
Synonyms:
(6S,8S,9S,10R,11S,13S,14S,17R)-11,17-dihydroxy-17-(2-hydroxyacetyl)-6,10,13-trimethyl-7,8,9,11,12,14,15,16-octahydro-6H-cyclopenta[a]phenanthren-3-one
(6a,11b)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6alpha,11beta)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6α,11β)-11,17,21-trihydroxy-6-methylpregna-1,4-diene-3,20-dione
.DELTA.1-6.alpha.-Methylhydrocortisone
1-Dehydro-6alpha-methylhydrocortisone
1-dehydro-6alpha-Methylhydrocortisone
1-dehydro-6α-methylhydrocortisone
11-beta,17,21-Trihydroxy-6-alpha-methylpregna-1,4-diene-3,20-dione
11beta,17,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methyl-1,4-pregnadiene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
121673-01-6
4-08-00-03498 (Beilstein Handbook Reference)
46436_FLUKA
46436_RIEDEL
570-35-4
6 Methylprednisolone
6-Methylprednisolone
6-alpha-Methylprednisolone
6.alpha.-Methylprednisolone
6923-42-8
6alpha-Methyl-11beta,17alpha,21-trihydroxy-1,4-pregnadiene-3,20-dione
6alpha-Methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
6alpha-Methylprednisolone
6alpha-methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
83-43-2
A-methapred
AC1L1N7A
Artisone-Wyeth
Artisone-wyeth
BPBio1_000174
BRD-K35240538-001-03-1
BRN 2340300
BSPBio_000158
Besonia
Bio-0658
CHEBI:6888
CHEMBL650
CID6741
CPD000058330
D00407
D008775
DB00959
Depo-Medrol (acetate)
Depo-medrol
Dopomedrol
EINECS 201-476-4
Esametone
Firmacort
HMS1568H20
HMS2090B13
HSDB 3127
LMST02030178
LS-118498
Lemod
M0639_SIGMA
M1665
MEPRDL
MLS000028541
MLS001148159
MLS002207191
Medesone
Medixon
Medlone 21
 
Medrate
Medrol
Medrol (TN)
Medrol Adt Pak
Medrol Dosepak
Medrol adt pak
Medrol dosepak
Medrol, Solu-Medrol, Medrone, Methylprednisolone
Medrone
Mesopren
Metastab
Methyleneprednisolone
Methylprednisolon
Methylprednisolone
Methylprednisolone (JP15/USP/INN)
Methylprednisolone [USAN:INN:BAN:JAN]
Methylprednisolone, 6-alpha
Methylprednisolonum
Methylprednisolonum [INN-Latin]
Metilbetasone
Metilprednisolona
Metilprednisolona [INN-Spanish]
Metilprednisolone
Metilprednisolone [DCIT]
Metilprednisolone [Dcit]
Metipred
Metrisone
Metrocort
Metysolon
Moderin
MolPort-002-528-554
NCGC00022735-03
NCI60_001657
NSC-19987
NSC19987
Nirypan
Noretona
Predni N Tablinen
Prednol- L
Pregna-1,4-diene-3,20-dione, 11beta,17,21-trihydroxy-6alpha-methyl- (8CI)
Prestwick0_000279
Prestwick1_000279
Prestwick2_000279
Prestwick3_000279
Prestwick_622
Promacortine
Reactenol
S1733_Selleck
SAM002589984
SMR000058330
SPBio_002377
Sieropresol
Solomet
Solu-medrol
Summicort
Suprametil
U 7532
UNII-X4W7ZR7023
Urbason
Urbasone
Wyacort
ZINC03875560
delta(1)-6alpha-Methylhydrocortisone
delta(sup 1)-6-alpha-Methylhydrocortisone
methylprednisolone
methylprenisolone
6
SimvastatinapprovedPhase 349379902-63-954454
Synonyms:
(+)-Simvastatin
(1S,3R,7S,8S,8aR)-8-{2-[(2R,4R)-4-hydroxy-6-oxotetrahydro-2H-pyran-2-yl]ethyl}-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl 2,2-dimethylbutanoate
2,2-Dimethylbutanoic acid (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8aR)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8ar)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
79902-63-9
AC-1530
AC1L1H1F
AKOS005111006
ARONIS24119
BCBcMAP01_000007
BIDD:GT0769
BPBio1_001001
BRD-K22134346-001-05-8
BRN 4768037
BSPBio_000909
BSPBio_002337
Bio-0672
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,*aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
C25H38O5
CCRIS 7558
CHEBI:9150
CHEMBL1064
CID54454
CPD000718785
Cholestat
Coledis
Colemin
Corolin
D00434
D019821
DRG-0320
Denan
DivK1c_006991
Eucor
HMS1570N11
HMS1922H13
HMS2089D12
HMS2093E06
HSDB 7208
InChI=1/C25H38O5/c1-6-25(4,5)24(28)30-21-12-15(2)11-17-8-7-16(3)20(23(17)21)10-9-19-13-18(26)14-22(27)29-19/h7-8,11,15-16,18-21,23,26H,6,9-10,12-14H2,1-5H3/t15-,16-,18+,19+,20-,21-,23-/m0/s1
KBio1_001935
KBio2_002197
KBio2_004765
KBio2_007333
KBio3_001557
KBioGR_001244
KBioSS_002197
KS-1113
Kolestevan
L 644128-000U
LS-46264
Labistatin
Lipex
Lipinorm
Liponorm
Lipovas
Lodales
MK 0733
MK 733
MK-0733
MK-733
MK733
MLS001304029
MLS001333077
MLS001333078
 
MLS002154038
Medipo
Modutrol
MolPort-002-507-345
MolPort-002-885-862
NCGC00017324-01
NCGC00017324-02
NCGC00017324-03
Nivelipol
Nor-Vastina
Pantok
Pepstatin
Prestwick0_000865
Prestwick1_000865
Prestwick2_000865
Prestwick3_000865
Prestwick_171
Rechol
Rendapid
S1792_Selleck
S6196_SIGMA
SAM002589969
SMR000718785
SPBio_001881
SPBio_002830
SPECTRUM1504236
STK801938
Simcor
Simovil
Simvast CR
Simvastatin
Simvastatin & Primycin
Simvastatin (JAN/USP/INN)
Simvastatin [USAN:INN:BAN]
Simvastatin [Usan:Ban:Inn]
Simvastatin lactone
Simvastatin, Compactin
Simvastatina
Simvastatina [Spanish]
Simvastatine
Simvastatine [French]
Simvastatinum
Simvastatinum [Latin]
Simvotin
Sinvacor
Sinvascor
Sivastin
SpecPlus_000895
Spectrum2_001671
Spectrum3_000669
Spectrum4_000632
Spectrum5_001428
Spectrum_001717
Statin
Synvinolin
TNP00259
UNII-AGG2FN16EV
Valemia
Vasotenal
Velostatin
Vytorin
ZINC03780893
Zocor
Zocor (TN)
Zocor, Simlup, Simcard, Simvacor, Simvoget, Zorced, Simvastatin
Zocord
[(1S,3R,7S,8S,8aR)-8-[2-[(2R,4R)-4-hydroxy-6-oxooxan-2-yl]ethyl]-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl] 2,2-dimethylbutanoate
butanoic acid, 2,2-dimethyl-,1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-(tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)-ethyl]-1-naphthalenyl ester, [1S-[1 alpha,3 alpha,7 beta,8 beta(2S*,4S*),-8a beta
nchembio790-comp16
simvastatin
7
LopinavirapprovedPhase 3342192725-17-092727
Synonyms:
(1S-(1R*(R*),3R*,4R*))-N-(4-(((2,6-Dimethylphenoxy)acetyl)amino)-3-hydroxy-5-phenyl-1-(phenylmethyl)pentyl)tetrahydro-alpha-(1-methylethyl)-2-oxo-1(2H)-pyrimidineacetamide
(2S)-N-[(2S,4S,5S)-5-[[2-(2,6-dimethylphenoxy)acetyl]amino]-4-hydroxy-1,6-diphenylhexan-2-yl]-3-methyl-2-(2-oxo-1,3-diazinan-1-yl)butanamide
(alphaS)-Tetrahydro-N-((alphaS)-alpha-((2S,3S)-2-hydroxy-4-phenyl-3-(2-(2,6-xylyloxy)acetamido)butyl)phenethyl)-alpha-isopropyl-2-oxo-1(2H)-pyrimidineacetamide
1(2H)-Pyrimidineacetamide, N-[(1S,3S,4S)-4-[[(2,6-dimethylphenoxy)acetyl]amino]-3-hydroxy-5-phenyl-1-(phenylmethyl)pentyl]tetrahydro-alpha-(1-methylethyl)-2-oxo-, (alphaS)- (9CI)
192725-17-0
1mui
2o4s
2q5k
2rkf
2rkg
A 157378
A 157378.0
A-157378-0
A-157378.0
AB1
ABT 157378
ABT 378
ABT-378
ABT-378, LOPINAVIR
AC1L3OPJ
AIDS032937
Aluviran
C12871
C37H48N4O5
 
CHEBI:40456
CHEMBL729
CID92727
D01425
DB01601
Kaletra
Koletra
LPV
LS-173766
Lopinavir
Lopinavir (JAN/USAN/INN)
Lopinavir [USAN:INN:BAN]
MolPort-003-848-410
N-(4-(((2,6-dimethylphenoxy)acetyl)amino)-3-hydroxy-5-phenyl-1-(phenylmethyl)pentyl)tetrahydro-alpha-(1-methylethyl)-2-oxo-1(2H)-pydrimidineacetamide
N-{1-BENZYL-4-[2-(2,6-DIMETHYL-PHENOXY)-ACETYLAMINO]-3-HYDROXY-5-PHENYL-PENTYL}-3-METHYL-2-(2-OXO-TETRAHYDRO-PYRIMIDIN-1-YL)-BUTYRAMIDE
NCGC00164576-01
NCGC00164576-02
RS-346
S1380_Selleck
SID124893167
SID144205757
SID50111692
UNII-2494G1JF75
a-157378-0
a-157378.0
8
Tenofovirapproved, investigationalPhase 3666147127-20-6464205
Synonyms:
(R)-9-(2-Phosphonomethoxypropyl)adenine
(R)-9-(2-Phosphonylmethoxypropyl)adenine
(R)-PMPA
147127-20-6
206184-49-8
AC-760
AC1LA9BO
Anh. tenofovir
Anhydrous tenofovir
Apropovir
CHEBI:45809
CHEMBL483
CID464205
D,L-Tenofovir
DB00300
GNA & Tenofovir
GS 1275
GS 1278
GS1278
HHA & Tenofovir
 
KS-5021
MolPort-003-850-411
NCGC00167535-01
PMPA
PMPA-(R)
Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- & Galanthus nivalis agglutinin (GNA)
Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- & Hippeastrum hybrid agglutinin( HHA)
Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- (9CI)
Phosphonic acid, [[2-(6-amino-9H-purin-9
S1401_Selleck
TDF
TFV
Tenefovir
Tenofovir
Tenofovir (anh.)
Tenofovir Disoproxil Fumarate
Tenofovir disoproxil
Tenofovir disoproxil fumarate
UNII-99YXE507IL
Viread
Viread, Tenofovir
[(2R)-1-(6-aminopurin-9-yl)propan-2-yl]oxymethylphosphonic acid
9
Ritonavirapproved, investigationalPhase 3, Phase 2850155213-67-5392622
Synonyms:
1,3-thiazol-5-ylmethyl N-[(2S,3S,5S)-3-hydroxy-5-[[(2S)-3-methyl-2-[[methyl-[(2-propan-2-yl-1,3-thiazol-4-yl)methyl]carbamoyl]amino]butanoyl]amino]-1,6-diphenylhexan-2-yl]carbamate
155213-67-5
1hxw
1sh9
5-Thiazolylmethyl ((alphaS)-alpha-((1S,3S)-1-hydroxy-3-((2S)-2-(3-((2-isopropyl-4-thiazolyl)methyl)-3-methylureido)-3-methylbutyramido)-4-phenylbutyl)phenethyl)carbamate
5-Thiazolylmethyl ((alphaS)-alpha-((1S,3S-1-hydroxy-3-((2S)-2-(3-((2-isopropyl-4-thiazolyl)methyl)-3-methylureido)-3-methylbutyramido)-4-phenylbutyl)phenethyl)carbamate
538, ABT
A-84538
ABBOTT-84538
ABT 538
ABT 84538
ABT-538
ABT538
AC-733
AC1L94GB
AKOS000280930
Abbott 84538
BIDD:GT0387
BIDD:PXR0023
Bio-0093
C07240
C37H48N6O5S2
CHEBI:45409
CHEMBL163
CID392622
CPD000466395
D00427
D019438
 
DB00503
DRG-0244
FT-0082824
HMS2051B08
HSDB 7160
LS-148860
MLS000759541
MLS001424063
MolPort-000-883-877
N-[(2S,4S,5S)-4-hydroxy-1,6-diphenyl-5-{[(1,3-thiazol-5-ylmethoxy)carbonyl]amino}hexan-2-yl]-N~2~-(methyl{[2-(propan-2-yl)-1,3-thiazol-4-yl]methyl}carbamoyl)-L-valinamide
NCGC00159462-02
NSC693184
Norvir
Norvir (TM)
Norvir (TN)
Norvir Sec
RIT
RTV
Ritonavir
Ritonavir (JAN/USAN/INN)
Ritonavir [USAN]
Ritonavir is an inhibitor of HIV protease used to treat HIV infection and AIDS.
Ritonavirum
S1185_Selleck
SAM001246783
SMR000466395
STK634209
ZINC03944422
ritonavir
10
FosamprenavirapprovedPhase 3, Phase 1, Phase 276226700-79-4131536
Synonyms:
((3S)Oxolan-3-yloxy)-N-((1S,2R)-3-{[(4-aminophenyl)sulfonyl](2-methylpropyl)amino}-1-benzyl-2-(phosphonooxy)propyl)carboxamide
(3-(((4-Aminophenyl)sulfonyl)(2-methylpropyl)amino)-1-(phenylmethyl)-2-(phosphonooxy)propyl)carbamic acid C-(tetrahydro-3-furanyl) ester
226700-79-4
AC1L2ZCO
Amprenavir phosphate
CHEMBL1664
CID131536
Carbamic acid, ((1S,2R)-3-(((4-aminophenyl)sulfonyl)(2-methylpropyl)amino)-1-(phenylmethyl)-2-(phosphonooxy)propyl)-, C-((3S)-tetrahydro-3-furanyl) ester
D02497
DB01319
Fosamprenavir
Fosamprenavir (INN)
Fosamprenavir [INN]
 
GW 433908
GW433908
GW433908A (*Sodium Salt*)
GW433908G (*Calcium Salt*)
HSDB 7340
LS-187013
LS-187787
Lexiva
Lexiva (TM)
MolPort-005-943-058
Telzir
Telzir(TM)
VX 175
VX-175
[(3S)-oxolan-3-yl] N-[(2S,3R)-4-[(4-aminophenyl)sulfonyl-(2-methylpropyl)amino]-1-phenyl-3-phosphonooxybutan-2-yl]carbamate
11
Folic Acidapproved, nutraceuticalPhase 3292459-30-36037
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
12
Niacinapproved, investigational, nutraceuticalPhase 336159-67-6938
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
13
AnacetrapibPhase 315875446-37-0
Synonyms:
875446-37-0
Anacetrapib
Anacetrapib (USAN)
CID 11556427
 
CID11556427
D08855
MK-0859
MK0859
UNII-P7T269PR6S
14Anti-Infective AgentsPhase 3, Phase 217220
15Calcium, DietaryPhase 34678
16Vasodilator AgentsPhase 32926
17Hypolipidemic AgentsPhase 32228
18Nicotinic AcidsPhase 3361
19Trace ElementsPhase 33900
20Vitamin B ComplexPhase 32847
21VitaminsPhase 33857
22Antiviral AgentsPhase 3, Phase 28071
23Nucleic Acid Synthesis InhibitorsPhase 33836
24Integrase InhibitorsPhase 3370
25Protease InhibitorsPhase 3, Phase 24558
26Raltegravir PotassiumPhase 3288
27Reverse Transcriptase InhibitorsPhase 31656
28HIV Protease InhibitorsPhase 3, Phase 24558
29HIV Integrase InhibitorsPhase 3343
30Anti-Retroviral AgentsPhase 3, Phase 22794
31Cytochrome P-450 CYP3A InhibitorsPhase 3, Phase 21421
32Cytochrome P-450 Enzyme InhibitorsPhase 3, Phase 23036
33Emtricitabine, Tenofovir Disoproxil Fumarate Drug CombinationPhase 3130
34OxazolidinonesPhase 321
35MicronutrientsPhase 33901
36HormonesPhase 2, Phase 311748
37Hormone AntagonistsPhase 2, Phase 310002
38Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 2, Phase 39988
39Immunologic FactorsPhase 2, Phase 318483
40Methylprednisolone HemisuccinatePhase 2, Phase 31082
41Methylprednisolone acetatePhase 2, Phase 31082
42glucocorticoidsPhase 2, Phase 33896
43Gastrointestinal AgentsPhase 2, Phase 36401
44Antibiotics, AntitubercularPhase 2, Phase 35971
45Anti-Bacterial AgentsPhase 2, Phase 39140
46AntiemeticsPhase 2, Phase 33213
47Anti-Inflammatory AgentsPhase 2, Phase 38478
48CyclosporinsPhase 2, Phase 3873
49Antineoplastic Agents, HormonalPhase 2, Phase 34256
50Neuroprotective AgentsPhase 2, Phase 31376

Interventional clinical trials:

(show all 31)
idNameStatusNCT IDPhase
1Extension to a Randomized, Double-blind, Placebo Controlled Study of LCQ908 in Subjects With Familial Chylomicronemia Syndrome.CompletedNCT01589237Phase 3
2A Randomized, Double-blind, Placebo Controlled Study to Assess Efficacy, Safety and Tolerability of LCQ908 in Subjects With Familial Chylomicronemia SyndromeCompletedNCT01514461Phase 3
3Efficacy and Safety of Human Lipoprotein Lipase (LPL)[S447X] Expressed by an Adeno-Associated Viral Vector in LPL-deficient SubjectsCompletedNCT00891306Phase 2, Phase 3
4Efficacy and Safety of Alirocumab (SAR236553/REGN727) Versus Placebo on Top of Lipid-Modifying Therapy in Patients With Heterozygous Familial Hypercholesterolemia Not Adequately Controlled With Their Lipid-Modifying TherapyCompletedNCT01623115Phase 3
5Lipid Efficacy Study (0524B-022)(COMPLETED)CompletedNCT00269217Phase 3
6Lipid Efficacy and Safety in Participants With Mixed Hyperlipidemia (MK-0524B-024)CompletedNCT00289900Phase 3
7A Study of the Safety and Efficacy of Anacetrapib (MK-0859) When Added to Ongoing Statin Therapy in Japanese Participants With Heterozygous Familial Hypercholesterolemia (MK-0859-050)CompletedNCT01824238Phase 3
8Atorvastatin Three Year Pediatric StudyCompletedNCT00827606Phase 3
9A 52 Week Study To Assess The Use Of Bococizumab (PF-04950615; RN316) In Subjects With Heterozygous Familial HypercholesterolemiaCompletedNCT01968980Phase 3
10Study Comparing Lopinavir/Ritonavir (LPV/r) + Emtricitabine/Tenofovir Disoproxil Fumarate (FTC/TDF) With a Nucleoside Sparing Regimen Consisting of Lopinavir/Ritonavir + Raltegravir (RAL)CompletedNCT00711009Phase 3
11The Approach Extension Study: A Study of Volanesorsen (Formerly IONIS-APOCIIIRx) in Patients With Familial Chylomicronemia SyndromeRecruitingNCT02658175Phase 3
12The APPROACH Study: A Study of Volanesorsen (Formerly ISIS-APOCIIIRx) in Patients With Familial Chylomicronemia SyndromeActive, not recruitingNCT02211209Phase 3
13Safety and Efficacy in LPL-Deficient Subjects of AMT-011, an Adeno-Associated Viral Vector Expressing Human Lipoprotein Lipase [S447X]Active, not recruitingNCT01109498Phase 2, Phase 3
14Efficacy and Tolerability of Anacetrapib Added to Ongoing Lipid-Lowering Therapy in Adult Participants With Homozygous Familial Hypercholesterolemia (HoFH) (MK-0859-042)TerminatedNCT01841684Phase 3
15Efficacy and Safety Study of Eprotirome in HeFH Patients Who Are on Optimal Standard of CareTerminatedNCT01410383Phase 3
16Pilot Study To Assess CAT-2003 in Patients With ChylomicronemiaCompletedNCT02098278Phase 2
17Safety, Tolerability,Pharmacokinetics(PK)and Pharmacodynamics(PD)Assessment of LCQ908 in Patients With Severe HypertriglyceridemiaCompletedNCT01146522Phase 1, Phase 2
18Study to Evaluate the Effects of MBX-8025 in Patients With HoFHCompletedNCT02472535Phase 2
19A Pilot Study to Evaluate the Lipid Effects of TRIA-662CompletedNCT02008084Phase 2
2048-Week Study Of GW433908 And Ritonavir Or GW433908 Alone, Twice Daily In Pediatric Patients With HIV InfectionCompletedNCT00089583Phase 2
21Orlistat for the Treatment of Type I HyperlipoproteinemiaRecruitingNCT02767531Phase 2
22Phase 2 Study of Orlistat and SLx-4090 for the Treatment of Type 1 HyperlipoproteinemiaRecruitingNCT01675154Phase 2
23Study Of An Investigational Regimen Including FDA Approved HIV Drugs In HIV-Infected Pediatric SubjectsActive, not recruitingNCT00071760Phase 2
24Phase I Study of Ex Vivo Liver-Directed Gene Therapy for Familial HypercholesterolemiaCompletedNCT00004809Phase 1
25Effect of Weight Loss on Cholesterol Metabolism in Hereditary Hypercholesterolemias and Overweight or Obesity.CompletedNCT01995149
26Following Lipectomy to Understand Adipose Tissue Re-accumulationCompletedNCT00995631
27Russian Familial Hypercholesterolemia RegistryRecruitingNCT02208869
28Study to Re-assess and Re-confirm Data Previously Recorded About the Incidence and Severity of Acute Abdominal "Pancreatitis" Episodes in Lipoprotein Lipase Deficient (LPLD) Subjects Previously Enrolled on AMT Clinical StudiesEnrolling by invitationNCT01448577
29Lipoprotein Lipase Enzyme Activity Assay Validation and Clinical AssessmentNot yet recruitingNCT02656095
30Pediatric Population Screening for Type 1 Diabetes and Familial Hypercholesterolemia in Lower Saxony, GermanyNot yet recruitingNCT02750527
31Duration of Effect of Alipogene Tiparvovec Treatment, Which Was Administered in Other StudiesTerminatedNCT01447901

Search NIH Clinical Center for Lipoprotein Lipase Deficiency

Genetic Tests for Lipoprotein Lipase Deficiency

About this section

Anatomical Context for Lipoprotein Lipase Deficiency

About this section

MalaCards organs/tissues related to Lipoprotein Lipase Deficiency:

33
Liver, T cells, Monocytes, Endothelial, Kidney, Lung, Skin

Animal Models for Lipoprotein Lipase Deficiency or affiliated genes

About this section

MGI Mouse Phenotypes related to Lipoprotein Lipase Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.3APOA1, APOB, APOE, C3, LCAT, LPL
2MP:00053918.2APOB, APOE, BTD, C3, LCAT, PLTP
3MP:00053857.3APOA1, APOB, APOE, C3, LCAT, LPL
4MP:00053766.3APOA1, APOB, APOE, BTD, C3, LCAT

Publications for Lipoprotein Lipase Deficiency

About this section

Articles related to Lipoprotein Lipase Deficiency:

(show top 50)    (show all 151)
idTitleAuthorsYear
1
Identification and Characterization of a Recessive Missense Mutation p.P277L in SERPINB7 in Nagashima-Type Palmoplantar Keratosis. (26763456)
2016
2
The role of splenic reservoir monocytes in pulmonary vascular monocyte accumulation in experimental hepatopulmonary syndrome. (27029414)
2016
3
Effect of spasticity on kinematics of gait and muscular activation in people with Multiple Sclerosis. (26409825)
2015
4
Adjustable recessions in horizontal comitant strabismus: A pilot study. (26458480)
2015
5
Postmortem MSCT diagnosis of whiplash injuries in a traffic accident: a case report and review of the literature. (25073322)
2014
6
Increased expression of miRNA-182 in colorectal carcinoma: an independent and tissue-specific prognostic factor. (25031782)
2014
7
Effect of Lower Extremity Fasciotomy Length on Intracompartmental Pressure in an Animal Model of Compartment Syndrome: The Importance of Achieving a Minimum of 90% Fascial Release. (25361856)
2014
8
Expression of RACGAP1 in high grade meningiomas: a potential role in cancer progression. (23525949)
2013
9
Histiocytosis for the neurologist: a case of Erdheim-Chester disease. (22976062)
2012
10
Fibromuscular dysplasia: a differential diagnosis of vasculitis. (22286647)
2012
11
Comprehensive functional assessment of MLH1 variants of unknown significance. (22736432)
2012
12
Human arylacetamide deacetylase is responsible for deacetylation of rifamycins: rifampicin, rifabutin, and rifapentine. (21856291)
2011
13
The effect of CD4 receptor downregulation and its downstream signaling molecules on HIV-1 latency. (21146497)
2011
14
Cyclooxygenase-2 controls energy homeostasis in mice by de novo recruitment of brown adipocytes. (20448152)
2010
15
Update on the management of pain in arthritis and the use of cyclooxygenase-2 inhibitors. (19889287)
2009
16
High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population. (19362502)
2009
17
Troglitazone inhibits cell proliferation by attenuation of epidermal growth factor receptor signaling independent of peroxisome proliferator-activated receptor gamma. (19417774)
2009
18
Turkish validation of the premature ejaculation diagnostic tool and its association with intravaginal ejaculatory latency time. (19020523)
2009
19
Evaluation of previously nonscreened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences. (18972447)
2008
20
p73 poses a barrier to malignant transformation by limiting anchorage-independent growth. (18239687)
2008
21
Monozygotic twins with severe myoclonic epilepsy in infancy discordant for clinical features. (18639757)
2008
22
Lower risk of hypoglycemia with insulin detemir than with neutral protamine hagedorn insulin in older persons with type 2 diabetes: a pooled analysis of phase III trials. (17979896)
2007
23
From gene to disease; PKHD1 and recessive polycystic kidney disease]. (15771341)
2005
24
Burkitt lymphoma in a child with Joubert syndrome. (15562502)
2005
25
Genetics of congenital hypothyroidism. (15863666)
2005
26
Coupling between cyclooxygenases and terminal prostanoid synthases. (16140261)
2005
27
Semiquantitative 67Ga scintigraphy as an indicator of response to and prognosis after corticosteroid treatment in idiopathic interstitial pneumonia. (16157523)
2005
28
Creation and characteristics of unnatural CysHis(3)-type zinc finger protein. (15530409)
2004
29
Molecular analysis of tau deposited in the FTDP-17 brain]. (12235810)
2001
30
X-linked thrombocytopenia identified by flow cytometric demonstration of defective Wiskott-Aldrich syndrome protein in lymphocytes. (10691337)
2000
31
Mechanisms of guanylin action via cyclic GMP in the kidney. (10845107)
2000
32
Association of HELLP syndrome with autoimmune antibodies and glucose intolerance. (10840997)
2000
33
2-Arachidonoylglycerol: an endogenous cannabinoid receptor agonist]. (10396990)
1999
34
The excised preauricular sinus in 14 years of experience: is there a problem? (9773994)
1998
35
Increased ubiquitin immunoreactivity in hepatocellular carcinomas and precancerous lesions of the liver. (9210613)
1997
36
Chromosome 3p14 homozygous deletions and sequence analysis of FRA3B. (9063739)
1997
37
Microalbuminuria in essential hypertension and diabetes mellitus. (8934384)
1996
38
Acyclovir in chickenpox. (9141815)
1996
39
Corticotrophin-releasing hormone and beta-endorphin in labour. (8075786)
1994
40
The efficacy of oxymetazoline administered with a nasal bellows container and combined with oral phenoxymethyl-penicillin in the treatment of acute maxillary sinusitis. (8067245)
1994
41
Immunoglobulin levels during follow-up of children with selective IgA deficiency. (1604243)
1992
42
The effects of caffeine and theophylline on the triple adenosine triphosphatase enzyme activities of spermatozoa from males with oligoasthenospermia. (2138554)
1990
43
The syndrome of inappropriate antidiuretic hormone secretion and its effect on blood indices following spinal fusion. (2772722)
1989
44
Multiple endocrine neoplasia type 2A: a Northern Ireland and Australian family. (2891640)
1987
45
Familial palindromic rheumatism: a possible association with HLA. (6606398)
1983
46
Endoscopic appearance of gastric angiodysplasia in hereditary hemorrhagic telangiectasia. (6967258)
1980
47
Haemorrhagic variola major (unvaccinated). (14807224)
1951
48
A case of acute cholangitis (post-operative) due to Proteus vulgaris sepsis treated with aureomycin. (14810679)
1951
49
50

Variations for Lipoprotein Lipase Deficiency

About this section

UniProtKB/Swiss-Prot genetic disease variations for Lipoprotein Lipase Deficiency:

67 (show all 69)
id Symbol AA change Variation ID SNP ID
1LPLp.Arg102SerVAR_004211
2LPLp.Trp113GlyVAR_004212
3LPLp.Trp113ArgVAR_004213
4LPLp.His163ArgVAR_004214
5LPLp.Gly169GluVAR_004215
6LPLp.Gly181SerVAR_004216
7LPLp.Asp183GlyVAR_004217
8LPLp.Asp183AsnVAR_004218
9LPLp.Pro184ArgVAR_004219
10LPLp.Ala185ThrVAR_004220
11LPLp.Ser199CysVAR_004221
12LPLp.Ala203ThrVAR_004222
13LPLp.Asp207GluVAR_004223
14LPLp.His210GlnVAR_004224
15LPLp.Gly215GluVAR_004225rs118204057
16LPLp.Ser220ArgVAR_004226
17LPLp.Ile221ThrVAR_004227
18LPLp.Gly222GluVAR_004228
19LPLp.Asp231GluVAR_004229
20LPLp.Ile232SerVAR_004230
21LPLp.Pro234LeuVAR_004231
22LPLp.Cys243SerVAR_004232
23LPLp.Arg270HisVAR_004233
24LPLp.Ser271ThrVAR_004234rs28934893
25LPLp.Asp277AsnVAR_004235
26LPLp.Ser278CysVAR_004236
27LPLp.Ser286GlyVAR_004237
28LPLp.Ser286ArgVAR_004238
29LPLp.Asn318SerVAR_004239rs268
30LPLp.Met328ThrVAR_004240
31LPLp.Leu330ProVAR_004241
32LPLp.Ala361ThrVAR_004242
33LPLp.Leu392ValVAR_004243
34LPLp.Glu437LysVAR_004245
35LPLp.Glu437ValVAR_004246
36LPLp.Asp36AsnVAR_011948rs1801177
37LPLp.Ala288ThrVAR_011949rs1800011
38LPLp.Asn70SerVAR_057914
39LPLp.Val96LeuVAR_057915
40LPLp.Ala98ThrVAR_057916
41LPLp.Thr128AlaVAR_057917
42LPLp.Gly132ArgVAR_057918
43LPLp.Gly181ValVAR_057919
44LPLp.Asp183HisVAR_057920
45LPLp.Gly186GluVAR_057921
46LPLp.Glu190GlyVAR_057922
47LPLp.Asp201ValVAR_057923
48LPLp.Val208IleVAR_057924
49LPLp.His210AspVAR_057925
50LPLp.Gly215ArgVAR_057926
51LPLp.Lys225ArgVAR_057927
52LPLp.Val227AlaVAR_057928rs528243561
53LPLp.Ile252ThrVAR_057929
54LPLp.Cys266TrpVAR_057930
55LPLp.Arg270CysVAR_057931
56LPLp.Leu279ArgVAR_057932rs35414700
57LPLp.Leu279ValVAR_057933
58LPLp.Tyr289HisVAR_057934
59LPLp.Phe297LeuVAR_057935
60LPLp.Leu303PheVAR_057936
61LPLp.Cys305ArgVAR_057937
62LPLp.Cys310TyrVAR_057938
63LPLp.Leu313ProVAR_057939
64LPLp.Ser325ArgVAR_057940
65LPLp.Met328ArgVAR_057941
66LPLp.Leu330PheVAR_057942
67LPLp.Ser365PheVAR_057943rs546542623
68LPLp.Cys445TyrVAR_057944
69LPLp.Glu448LysVAR_057945rs149089920

Clinvar genetic disease variations for Lipoprotein Lipase Deficiency:

5 (show all 35)
id Gene Variation Type Significance SNP ID Assembly Location
1LPLNM_000237.2(LPL): c.607G> A (p.Ala203Thr)single nucleotide variantPathogenicrs118204056GRCh37Chr 8, 19811696: 19811696
2LPLLPL, INSinsertionPathogenic
3LPLnsv513798duplicationPathogenic
4LPLNM_000237.2(LPL): c.644G> A (p.Gly215Glu)single nucleotide variantPathogenicrs118204057GRCh37Chr 8, 19811733: 19811733
5LPLLPL, 6-KB DELdeletionPathogenic
6LPLNM_000237.2(LPL): c.397C> T (p.Gln133Ter)single nucleotide variantPathogenicrs118204058GRCh37Chr 8, 19809427: 19809427
7LPLNM_000237.2(LPL): c.811T> A (p.Ser271Thr)single nucleotide variantPathogenicrs118204059GRCh37Chr 8, 19813387: 19813387
8LPLLPL, IVS2DS, G-Asingle nucleotide variantPathogenic
9LPLNM_000237.2(LPL): c.701C> T (p.Pro234Leu)single nucleotide variantPathogenicrs118204060GRCh37Chr 8, 19811790: 19811790
10LPLNM_000237.2(LPL): c.693C> G (p.Asp231Glu)single nucleotide variantPathogenicrs118204067GRCh37Chr 8, 19811782: 19811782
11LPLNM_000237.2(LPL): c.662T> C (p.Ile221Thr)single nucleotide variantPathogenicrs118204061GRCh37Chr 8, 19811751: 19811751
12LPLNM_000237.2(LPL): c.809G> A (p.Arg270His)single nucleotide variantPathogenicrs118204062GRCh37Chr 8, 19813385: 19813385
13LPLNM_000237.2(LPL): c.300C> A (p.Tyr100Ter)single nucleotide variantPathogenicrs118204074GRCh37Chr 8, 19809330: 19809330
14LPLNM_000237.2(LPL): c.506G> A (p.Gly169Glu)single nucleotide variantPathogenicrs118204063GRCh37Chr 8, 19810897: 19810897
15LPLNM_000237.2(LPL): c.548A> G (p.Asp183Gly)single nucleotide variantPathogenicrs118204064GRCh37Chr 8, 19811637: 19811637
16LPLLPL, IVS2DS, G-A, +1single nucleotide variantPathogenic
17LPLNM_000237.2(LPL): c.264T> A (p.Tyr88Ter)single nucleotide variantPathogenicrs118204065GRCh37Chr 8, 19809294: 19809294
18LPLNM_000237.2(LPL): c.1227G> A (p.Trp409Ter)single nucleotide variantPathogenicrs118204066GRCh37Chr 8, 19818499: 19818499
19LPLLPL, 1-BP DEL, 916GdeletionPathogenic
20LPLNM_000237.2(LPL): c.829G> A (p.Asp277Asn)single nucleotide variantPathogenicrs118204068GRCh37Chr 8, 19813405: 19813405
21LPLNM_000237.2(LPL): c.337T> C (p.Trp113Arg)single nucleotide variantPathogenicrs118204069GRCh37Chr 8, 19809367: 19809367
22LPLNM_000237.2(LPL): c.272G> A (p.Trp91Ter)single nucleotide variantPathogenicrs118204070GRCh37Chr 8, 19809302: 19809302
23LPLLPL, IVS1, G-C, +1single nucleotide variantPathogenic
24LPLNM_000237.2(LPL): c.1081G> A (p.Ala361Thr)single nucleotide variantPathogenicrs118204071GRCh37Chr 8, 19816833: 19816833
25LPLNM_000237.2(LPL): c.596C> G (p.Ser199Cys)single nucleotide variantPathogenicrs118204072GRCh37Chr 8, 19811685: 19811685
26LPLNM_000237.2(LPL): c.306A> C (p.Arg102Ser)single nucleotide variantPathogenicrs118204073GRCh37Chr 8, 19809336: 19809336
27LPLNM_000237.2(LPL): c.665G> A (p.Gly222Glu)single nucleotide variantPathogenicrs118204075GRCh37Chr 8, 19811754: 19811754
28LPLNM_000237.2(LPL): c.621C> G (p.Asp207Glu)single nucleotide variantPathogenicrs118204076GRCh37Chr 8, 19811710: 19811710
29LPLNM_000237.2(LPL): c.808C> T (p.Arg270Cys)single nucleotide variantPathogenicrs118204077GRCh37Chr 8, 19813384: 19813384
30LPLNM_000237.2(LPL): c.1174C> G (p.Leu392Val)single nucleotide variantPathogenicrs118204078GRCh37Chr 8, 19818446: 19818446
31LPLNM_000237.2(LPL): c.1334G> A (p.Cys445Tyr)single nucleotide variantPathogenicrs118204079GRCh37Chr 8, 19819637: 19819637
32LPLNM_000237.2(LPL): c.755T> C (p.Ile252Thr)single nucleotide variantPathogenicrs118204080GRCh37Chr 8, 19811844: 19811844
33LPLNM_000237.2(LPL): c.987C> A (p.Tyr329Ter)single nucleotide variantPathogenicrs118204081GRCh37Chr 8, 19813563: 19813563
34LPLNM_000237.2(LPL): c.798C> G (p.Cys266Trp)single nucleotide variantPathogenicrs118204082GRCh37Chr 8, 19813374: 19813374
35LPLLPL, 1-BP DEL, CODON 172deletionPathogenic

Expression for genes affiliated with Lipoprotein Lipase Deficiency

About this section
Search GEO for disease gene expression data for Lipoprotein Lipase Deficiency.

Pathways for genes affiliated with Lipoprotein Lipase Deficiency

About this section

Pathways related to Lipoprotein Lipase Deficiency according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.1APOA1, APOB, BTD
2
Show member pathways
9.0APOA1, APOC3, LPL, PLTP
3
Show member pathways
9.0APOA1, APOB, APOE
4
Show member pathways
8.2APOA1, APOB, APOC3, APOE, LPL
5
Show member pathways
7.8APOA1, APOB, APOC3, APOE, BTD, LPL
6
Show member pathways
7.1APOA1, APOB, APOC3, APOE, CETP, LCAT
7
Show member pathways
6.9APOA1, APOB, APOC3, APOE, CETP, LCAT
8
Show member pathways
5.3APOA1, APOB, APOC3, APOE, BTD, CETP

GO Terms for genes affiliated with Lipoprotein Lipase Deficiency

About this section

Cellular components related to Lipoprotein Lipase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1low-density lipoprotein particleGO:003436210.1APOB, PLA2G7
2intermediate-density lipoprotein particleGO:00343639.9APOB, APOC3
3early endosomeGO:00057698.7APOA1, APOB, APOC3, APOE
4extracellular regionGO:00055768.3APOB, BTD, PLTP, PON1

Biological processes related to Lipoprotein Lipase Deficiency according to GeneCards Suite gene sharing:

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1neuron projection regenerationGO:003110210.2APOA1, APOE
2positive regulation of cholesterol esterificationGO:001087310.2APOA1, APOE
3lipoprotein biosynthetic processGO:004215810.2APOA1, APOE
4phosphatidylcholine metabolic processGO:004647010.1CETP, LCAT
5phosphatidylcholine biosynthetic processGO:000665610.1APOA1, LCAT
6positive regulation of macrophage derived foam cell differentiationGO:001074410.1APOB, LPL
7regulation of Cdc42 protein signal transductionGO:003248910.1APOC3, APOE
8phospholipid homeostasisGO:005509110.1APOA1, CETP
9lipid catabolic processGO:001604210.0APOB, LPL
10very-low-density lipoprotein particle remodelingGO:003437210.0APOE, CETP
11positive regulation of lipid storageGO:001088410.0APOB, C3
12low-density lipoprotein particle remodelingGO:003437410.0APOB, APOE
13lipoprotein catabolic processGO:00421599.9APOB, APOE
14very-low-density lipoprotein particle assemblyGO:00343799.9APOB, APOC3
15cholesterol transportGO:00303019.9CETP, LCAT
16lipoprotein metabolic processGO:00421579.7APOC3, LPA, LPL
17triglyceride homeostasisGO:00703289.7APOA1, CETP, LPL
18phospholipid effluxGO:00337009.7APOA1, APOC3, APOE
19cholesterol effluxGO:00333449.4APOA1, APOB, APOE
20reverse cholesterol transportGO:00436919.3APOA1, APOC3, APOE, LCAT
21triglyceride metabolic processGO:00066419.3APOC3, APOE, CETP
22cholesterol homeostasisGO:00426329.2APOC3, APOE, LPL
23triglyceride catabolic processGO:00194339.1APOB, APOC3, APOE, LPL
24cholesterol metabolic processGO:00082039.0APOB, APOE, PON1
25receptor-mediated endocytosisGO:00068988.8APOA1, APOE, CETP
26high-density lipoprotein particle remodelingGO:00343758.8APOA1, APOC3, CETP, LCAT, PLTP
27retinoid metabolic processGO:00015238.4APOA1, APOB, APOC3, APOE, LPL
28phototransduction, visible lightGO:00076038.2APOA1, APOB, APOC3, APOE, LPL
29lipid metabolic processGO:00066298.1APOB, APOE, LCAT, LPL, PON1
30lipid transportGO:00068698.0APOB, APOC3, APOE, CETP, LPA, PLTP

Molecular functions related to Lipoprotein Lipase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endopeptidase inhibitor activityGO:00048669.9C3, LPA
2high-density lipoprotein particle receptor bindingGO:00706539.7APOA1, APOC3

Sources for Lipoprotein Lipase Deficiency

About this section
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