MCID: FML026
MIFTS: 44

Familial Lipoprotein Lipase Deficiency malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Familial Lipoprotein Lipase Deficiency

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Aliases & Descriptions for Familial Lipoprotein Lipase Deficiency:

Name: Familial Lipoprotein Lipase Deficiency 11 23 48 24 25 13
Familial Lpl Deficiency 11 23 48 24 25
Familial Hyperchylomicronemia 11 48 24 25
Lipoprotein Lipase Deficiency, Familial 71 48 25
Type I Hyperlipoproteinemia 23 48 24
Hyperlipoproteinemia Type I 25 39 68
Familial Fat-Induced Hypertriglyceridemia 48 25
Endogenous Hypertriglyceridaemia 48 25
Burger-Grutz Syndrome 48 25
Lipase D Deficiency 48 25
Lipd Deficiency 48 25
Familial Lipoprotein Lipase Deficiency with Type I Phenotype 11
Fredrickson Type I Hyperlipoproteinemia 11
 
Familial Hyperlipoproteinemia Type I 11
Hypercholesterinaemic Xanthomatosis 11
Idiopathic Familial Hyperlipemia 24
Secondary Hypertriglyceridemia 68
Exogenous Hypertriglyceridemia 24
Lipoprotein Lipase Deficiency 48
Hyperlipoproteinemia Type Ia 25
Fredrickson Type I Lipaemia 11
Mixed Hyperglyceridemia 11
Hyperchylomicronemia 11
Hyperlipemia I 24
Hyperlipemia 1 24
Lpl Deficiency 48

Classifications:



External Ids:

Disease Ontology11 DOID:14118
ICD1030 E78.3
ICD9CM32 272.3
MeSH39 D008072
NCIt45 C84771

Summaries for Familial Lipoprotein Lipase Deficiency

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NIH Rare Diseases:48 Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. deficiency of this enzyme prevents affected individuals from properly digesting certain fats. this results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. familial lipoprotein lipase deficiency is caused by changes (mutations) in the lpl gene. it is inherited in an autosomal recessive pattern. treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines. last updated: 1/28/2017

MalaCards based summary: Familial Lipoprotein Lipase Deficiency, also known as familial lpl deficiency, is related to hypertriglyceridemia and hyperchylomicronemia, late-onset. An important gene associated with Familial Lipoprotein Lipase Deficiency is LPL (Lipoprotein Lipase), and among its related pathways are PPAR signaling pathway and Mitochondrial LC-Fatty Acid Beta-Oxidation. Affiliated tissues include skin, pancreas and liver, and related mouse phenotypes are Decreased free cholesterol and homeostasis/metabolism.

Genetics Home Reference:25 Familial lipoprotein lipase deficiency is an inherited condition that disrupts the normal breakdown of fats in the body, resulting in an increase of certain kinds of fats.

GeneReviews for NBK1308

Related Diseases for Familial Lipoprotein Lipase Deficiency

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



Diseases related to familial lipoprotein lipase deficiency

Symptoms & Phenotypes for Familial Lipoprotein Lipase Deficiency

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GenomeRNAi Phenotypes related to Familial Lipoprotein Lipase Deficiency according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00340-A-29.8APOA5, LIPC, LPL

MGI Mouse Phenotypes related to Familial Lipoprotein Lipase Deficiency according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.2APOA5, APOC2, LIPC, LMF1, LPL, PNLIP

Drugs & Therapeutics for Familial Lipoprotein Lipase Deficiency

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

(show all 39)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Miconazoleapproved, investigational, vet_approvedPhase 2, Phase 3370622916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
2
Mycophenolate mofetilapproved, investigationalPhase 2, Phase 3952128794-94-55281078
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 (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
3
Cyclosporineapproved, investigational, vet_approvedPhase 2, Phase 392279217-60-0, 59865-13-35284373, 6435893
Synonyms:
1c5f
1cyn
30024_FLUKA
30024_SIGMA
59865-13-3
79217-60-0
AC1L1EQW
AC1NQXJE
AC1NR4C4
AC1NUQK3
AC1NUZNC
AC1O5KOG
AC1Q2UDG
Ambap59865-13-3
Ambotz59865-13-3
Antibiotic S 7481F1
BMT-ABA-SAR-MLE-VAL-MLE-ALA-ALA-MLE-MLE-MVA
BMT-ABA-SAR-MLE-VAL-MLE-ALA-DAL-MLE-MLE-MVA
BPBio1_000496
BRD-A64290322-001-01-6
BRD-A69815203-001-04-3
BRD-K13533483-001-03-0
BSPBio_000450
BSPBio_001596
BSPBio_003186
C 3662
C05086
C1832_SIGMA
C3662_SIGMA
C62H111N11O12
CB-01-09 MMX
CHEBI:106343
CHEBI:328305
CHEBI:4031
CHEMBL160
CHEMBL386389
CHEMBL532318
CID2909
CID5280754
CID5284373
CID5458585
CID5497195
CID6435893
CSA
CYCLOSPORIN A (SEE ALSO TRANSGENIC MODEL EVALUATION (CYCLOSPORIN A))
CYCLOSPORIN A, USP
Ciclosporin
Ciclosporin (JP15)
Ciclosporina
Ciclosporine
Ciclosporinum
Cipol N
Cipol-N
Consupren
Consupren S
CsA
CsA & IFN.alpha.
CyA
Cyclokat
Cyclosporin
Cyclosporin A
Cyclosporin A & IFN.alpha.
Cyclosporin A Implant
Cyclosporin A, Tolypocladium inflatum
Cyclosporine (USP)
Cyclosporine A
Cyclosporine [USAN]
D00184
DE-076
DivK1c_000871
EU-0100242
Equoral
GNF-Pf-2808
Gengraf
Gengraf (TN)
HMS1569G12
HMS1791P18
HMS1921L20
HMS1989P18
HMS2089A09
HMS2092F06
HMS502L13
Helv Chim Acta 60: 1568 (1977)
 
I06-0379
I06-0966
IDI1_000871
KBio1_000871
KBio2_000780
KBio2_003348
KBio2_005916
KBio3_002686
KBioGR_001898
KBioSS_000780
LMPK14000003
LS-257
LS-58836
Lopac0_000242
MLS000028376
MLS001333756
MLS002153454
MLS002207033
Mitogard
Modusik-A
MolPort-000-760-988
MolPort-005-934-008
MolPort-006-705-994
NCGC00093704-01
NCGC00093704-02
NCGC00093704-03
NCGC00093704-04
NCGC00093704-05
NCGC00093704-06
NCGC00093704-07
NCGC00093704-08
NCGC00164258-01
NCGC00164258-02
NINDS_000871
NSC290193
Neoplanta
Neoral
Neoral (TN)
NeuroSTAT
Nova-22007
OL 27-400
OL-27400
OLO-400
Papilock
Prestwick2_000435
Prestwick3_000435
Prestwick_731
Pulminiq
Ramihyphin A
Restasis
Restasis (TN)
S-Neoral
S1514_Selleck
SDZ-OXL 400
SMR000058578
SPBio_001467
SPECTRUM1502202
ST-603
Sandimmun
Sandimmun Neoral
Sandimmune
Sandimmune (TN)
Sandimmune, Gengraf, Restasis, Atopica, Sangcya, Cyclosporine
Sang-2000
Sang-35
SangCyA
Sangcya
Sigmasporin
Sigmasporin Microoral
Spectrum2_001484
Spectrum3_001593
Spectrum4_001279
Spectrum5_001628
Spectrum_000300
TRANSGENIC MODEL EVALUATION (CYCLOSPORIN A)
Vekacia
Zyclorin
cyclophorine
cyclosporin A
cyclosporine
from Tolypocladium inflatum (Trichoderma polysporin)
nchembio.184-comp6
nchembio.301-comp5
nchembio.342-comp1
4
Mycophenolic acidapprovedPhase 2, Phase 395224280-93-1446541
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
Mycophenolsäure
Myfortic
5
Methylprednisoloneapproved, vet_approvedPhase 2, Phase 3119383-43-26741
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
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)
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
Summicort
Suprametil
U 7532
UNII-X4W7ZR7023
Urbason
Urbasone
Wyacort
ZINC03875560
delta(1)-6alpha-Methylhydrocortisone
delta(sup 1)-6-alpha-Methylhydrocortisone
methylprednisolone
methylprenisolone
6
Prednisoloneapproved, vet_approvedPhase 2, Phase 3119350-24-85755
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
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
MolPort-002-507-147
NCGC00179649-01
NSC 9120
NSC9120
NSC9900
Neo-Delta-Cortef
Nisolone
Nor-Pred T.B.A.
Ocu-Pred
Ocu-Pred Forte
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 (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
7
FosamprenavirapprovedPhase 3, Phase 1, Phase 277226700-79-4131536
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
8Anti-Bacterial AgentsPhase 2, Phase 311226
9Antirheumatic AgentsPhase 2, Phase 310956
10Antibiotics, AntitubercularPhase 2, Phase 37180
11Calcineurin InhibitorsPhase 2, Phase 31622
12Anti-Infective AgentsPhase 2, Phase 322062
13Dermatologic AgentsPhase 2, Phase 35806
14Antifungal AgentsPhase 2, Phase 33696
15Immunosuppressive AgentsPhase 2, Phase 313086
16Neuroprotective AgentsPhase 2, Phase 31716
17Methylprednisolone HemisuccinatePhase 2, Phase 31193
18Peripheral Nervous System AgentsPhase 2, Phase 323689
19Protective AgentsPhase 2, Phase 37443
20Methylprednisolone acetatePhase 2, Phase 31193
21Prednisolone phosphatePhase 2, Phase 31193
22Prednisolone hemisuccinatePhase 2, Phase 31193
23Prednisolone acetatePhase 2, Phase 31193
24Hormone AntagonistsPhase 2, Phase 313180
25Antineoplastic Agents, HormonalPhase 2, Phase 35592
26Anti-Inflammatory AgentsPhase 2, Phase 310729
27Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 2, Phase 313168
28Autonomic AgentsPhase 2, Phase 310150
29AntiemeticsPhase 2, Phase 34022
30HormonesPhase 2, Phase 314415
31glucocorticoidsPhase 2, Phase 35103
32Gastrointestinal AgentsPhase 2, Phase 38402
33
Orlistatapproved, investigationalPhase 25296829-58-23034010
Synonyms:
(-)-Tetrahydrolipstatin
1-((3-hexyl-4-oxo-2-oxetanyl)methyl)dodecyl-2-formamido-4-methylvalerate
111397-16-1
96829-58-2
AC-19012
AC1MHWQP
Alli
Alli, Xenical, Tetrahydrolipstatin, Orlistat
BIDD:GT0853
C055122
C29H53NO5
CHEMBL175247
CID3034010
CPD000466339
D04028
DB01083
FT-0082584
GlaxoSmithKline brand of orlistat
HMS2051I08
Hoffmann-La Roche brand of orlistat
KS-1183
L-Leucine, N-formyl-, (1S)-1-(((2S,3S)-3-hexyl-4-oxo-2-oxetanyl)methyl)dodecyl ester
L-Leucine,N-formyl-, (1S)-1-(((2S,3S)-3-hexyl-4-oxo-2-oxetanyl)methyl)dodecyl ester
LS-178328
MLS000759448
MLS001423955
 
MLS002207022
MolPort-005-938-035
N-Formyl-L-leucine (1S)-1-[[(2S,3S)-3-hexyl-4-oxo-2-oxetanyl]methyl]dodecyl ester
N-Formyl-L-leucine, ester with (3S,4S)-3-hexyl-4-((2S)-2-hydroxytridecyl)-2-oxetanone
NCGC00165856-01
O4139_SIGMA
Orlipastat
Orlipastatum
Orlipastatum [INN-Latin]
Orlistat (USAN/INN)
Orlistat [USAN:INN]
R-212
Ro 18-0647/002
Ro 18-0647/008
Ro-18-0647
Roche brand of orlistat
S1629_Selleck
SAM001246637
SMR000466339
THLP
Tetrahydrolipstatin
UNII-95M8R751W8
Xenical
Xenical (TN)
[(2S)-1-[(2S,3S)-3-hexyl-4-oxooxetan-2-yl]tridecan-2-yl] (2S)-2-formamido-4-methylpentanoate
nchembio.129-comp24
orlistat
34Anti-Obesity AgentsPhase 2413
35
Heparinapproved, investigational8489005-49-6772, 46507594
Synonyms:
101921-26-0
102-94-3
102785-31-9
104521-37-1
11078-24-3
11129-39-8
12656-11-0
2-o-sulfohexopyranuronosyl-(1->4)-2-deoxy-3-o-sulfo-2-(sulfoamino)hexopyranosyl-(1->4)-2-o-sulfohexopyranuronosyl-(1->4)-2-acetamido-2-deoxy-6-o-sulfohexopyranose
37324-73-5
6-[6-[6-[5-acetamido-4,6-dihydroxy-2-(sulfooxymethyl)oxan-3-yl]oxy-2-carboxy-4-hydroxy-5-sulfooxyoxan-3-yl]oxy-2-(hydroxymethyl)-5-(sulfoamino)-4-sulfooxyoxan-3-yl]oxy-3,4-dihydroxy-5-sulfooxyoxane-2-carboxylic acid
9041-08-1
9045-22-1
9075-96-1
913079-23-9
91449-79-5
AC1L19ZN
AC1L1ROY
ALFA 87-120
ALFA 87-163
ALFA 87-198
ALFA 87-81
ALFA 88-247
AR-1E4539
Allocinnamic acid
Ardeparin
Ardeparin sodium
Arteven
Bemiparin
Bemiparin sodium
CID772
CID8784
CY 216
Calciparine
Certoparin
Clexane
Clivarin
Clivarine
Cy 222
D006495
D017984
DB00407
DB01225
Dalteparin
Dalteparin sodium
Depo-Heparin
EINECS 232-681-7
EMT 966
EMT 967
EMT-966
EMT-967
EMT966
EMT967
Enoxaparin
Enoxaparin sodium
Enoxaparine
Eparina
Eparina [DCIT]
FR 860
Fluxum
Fragmin A
Fragmin B
Fragmin IV
Fraxiparin
H 2149
HSDB 3094
Hed-heparin
Hep Flush Kit in plastic container
Hep-Lock
Hep-Lock U/P
Hep-lock
Heparin
Heparin CY 216
Heparin Lock Flush
Heparin Lock Flush in plastic container
Heparin Lock Flush preservative free
Heparin Lock Flush preservative free in plastic container
Heparin Sodium
Heparin natrium
Heparin sodium
Heparin sodium 1,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 1,000 units in dextrose 5% in plastic container
Heparin sodium 1,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 10,000 units in dextrose 5%
Heparin sodium 10,000 units in dextrose 5% in plastic container
Heparin sodium 10,000 units in sodium chloride 0.45%
Heparin sodium 10,000 units in sodium chloride 0.9%
Heparin sodium 12,500 units in dextrose 5%
Heparin sodium 12,500 units in dextrose 5% in plastic container
Heparin sodium 12,500 units in sodium chloride 0.45% in plastic container
Heparin sodium 12,500 units in sodium chloride 0.9%
Heparin sodium 2,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 2,000 units in dextrose 5% in plastic container
Heparin sodium 2,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 20,000 units and dextrose 5% in plastic container
Heparin sodium 20,000 units in dextrose 5% in plastic container
Heparin sodium 25,000 units and dextrose 5% in plastic container
 
Heparin sodium 25,000 units in dextrose 5%
Heparin sodium 25,000 units in dextrose 5% in plastic container
Heparin sodium 25,000 units in sodium chloride 0.45% in plastic container
Heparin sodium 25,000 units in sodium chloride 0.9%
Heparin sodium 25,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 5,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 5,000 units in dextrose 5% in plastic container
Heparin sodium 5,000 units in sodium chloride 0.45%
Heparin sodium 5,000 units in sodium chloride 0.9%
Heparin sodium 5,000 units in sodium chloride 0.9% in plastic container
Heparin sodium in plastic container
Heparin sodium preservative Free
Heparin sulfate
Heparin sulphate
Heparin, Low Molecular Weight
Heparin, Low-Molecular-Weight
Heparin, sodium salt
Heparina
Heparina [INN-Spanish]
Heparinate
Heparine
Heparine [INN-French]
Heparinic acid
Heparinsodiumsalt
Heparinum
Heparinum [INN-Latin]
Heparinum natricum
Hepathrom
Hepflush-10
Inno-Hep
Innohep
Isocinnamic acid
KB 101
Kabi 2165
LHN 1
LMWH
Lioton 1000
Lipo-hepin
Liquaemin
Liquaemin Lock Flush
Liquaemin Sodium
Liquaemin sodium preservative free
Liquemin
Logiparin
Lovenox
Lovenox HP
Low Molecular Weight Heparin
Low molecular weight heparin
Low molecular weight heparin sodium
Low-Molecular-Weight Heparin
Minolteparin sodium
MolPort-003-760-257
Multiparin
NSC174025
Nadroparin
Nadroparine
Novoheparin
OP 386
OP 622
Octaparin
PK 10,169
PK-10,169
PK-10169
PK10,169
PK10169
Pabyrin
Panheprin
Parnaparin
Parnaparin sodium
Parvoparin
Pularin
Reviparin
Reviparin sodium
Ro 11
Sandoparin
Sodium acid heparin
Sodium heparin
Sodium heparinate
Subeparin
Sublingula
Thromboliquine
Tinzaparin
Tinzaparin sodium
Triofiban
UNII-12M44VTJ7B
UNII-3S182ET3UA
UNII-E47C0NF7LV
UNII-T2410KM04A
UNII-ZZ45AB24CA
Unfractionated heparin
Vetren
Vitrum AB
WY 90493RD
alpha-Heparin
cis-.beta.-Carboxystyrene
cis-Cinnamic acid
enoxaparin
heparin
36Fibrinolytic Agents2388
37calcium heparin848
38Anticoagulants2623
39Calcium, Dietary5713

Interventional clinical trials:

(show all 13)
idNameStatusNCT IDPhase
1Safety and Efficacy in LPL-Deficient Subjects of AMT-011, an Adeno-Associated Viral Vector Expressing Human Lipoprotein Lipase [S447X]Unknown statusNCT01109498Phase 2, Phase 3
2The APPROACH Study: A Study of Volanesorsen (Formerly IONIS-APOCIIIRx) in Patients With Familial Chylomicronemia SyndromeCompletedNCT02211209Phase 3
3A Randomized, Double-blind, Placebo Controlled Study to Assess Efficacy, Safety and Tolerability of LCQ908 in Subjects With Familial Chylomicronemia SyndromeCompletedNCT01514461Phase 3
4Efficacy and Safety of Human Lipoprotein Lipase (LPL)[S447X] Expressed by an Adeno-Associated Viral Vector in LPL-deficient SubjectsCompletedNCT00891306Phase 2, Phase 3
5The Approach Open Label Study: A Study of Volanesorsen (Formerly IONIS-APOCIIIRx) in Patients With Familial Chylomicronemia SyndromeRecruitingNCT02658175Phase 3
6Extension to a Randomized, Double-blind, Placebo Controlled Study of LCQ908 in Subjects With Familial Chylomicronemia Syndrome.TerminatedNCT01589237Phase 3
7Pilot Study To Assess CAT-2003 in Patients With ChylomicronemiaCompletedNCT02098278Phase 2
8Safety, Tolerability,Pharmacokinetics(PK)and Pharmacodynamics(PD)Assessment of LCQ908 in Patients With Severe HypertriglyceridemiaCompletedNCT01146522Phase 1, Phase 2
9Orlistat for the Treatment of Type I HyperlipoproteinemiaRecruitingNCT02767531Phase 2
10Alipogene Tiparvovec for the Treatment of LPLD PatientsRecruitingNCT02904772Phase 2
11Study 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 StudiesUnknown statusNCT01448577
12Lipoprotein Lipase Enzyme Activity Assay Validation and Clinical AssessmentNot yet recruitingNCT02656095
13Duration of Effect of Alipogene Tiparvovec Treatment, Which Was Administered in Other StudiesTerminatedNCT01447901

Search NIH Clinical Center for Familial Lipoprotein Lipase Deficiency


Cochrane evidence based reviews: hyperlipoproteinemia type i

Genetic Tests for Familial Lipoprotein Lipase Deficiency

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Genetic tests related to Familial Lipoprotein Lipase Deficiency:

id Genetic test Affiliating Genes
1 Familial Lipoprotein Lipase Deficiency24 LPL

Anatomical Context for Familial Lipoprotein Lipase Deficiency

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MalaCards organs/tissues related to Familial Lipoprotein Lipase Deficiency:

36
Skin, Pancreas, Liver, Spleen

Publications for Familial Lipoprotein Lipase Deficiency

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Articles related to Familial Lipoprotein Lipase Deficiency:

(show all 27)
idTitleAuthorsYear
1
Alipogene tiparvovec: a review of its use in adults with familial lipoprotein lipase deficiency. (25559420)
2015
2
Familial lipoprotein lipase deficiency: a case of compound heterozygosity of a novel duplication (R44Kfs*4) and a common mutation (N291S) in the lipoprotein lipase gene. (23761384)
2013
3
Metabolic surgery for the treatment of hypertriglyceridemia-related pancreatitis due to familial lipoprotein lipase deficiency. (24680758)
2013
4
Familial lipoprotein lipase deficiency caused by known (G188E) and novel (W394X) LPL gene mutations. (18275685)
2008
5
Familial lipoprotein lipase deficiency]. (17824045)
2007
6
Deceptive hyperbilirubinaemia in a newborn with familial lipoprotein lipase deficiency. (11468054)
2001
7
Familial lipoprotein lipase deficiency]. (11347061)
2001
8
A gene analysis of familial lipoprotein lipase deficiency in China]. (10431049)
1999
9
Neonatal pancreatitis associated with familial lipoprotein lipase deficiency. (10400113)
1999
10
Triglyceride-induced diabetes associated with familial lipoprotein lipase deficiency. (10342813)
1999
11
Prevention of recurrent pancreatitis in familial lipoprotein lipase deficiency with high-dose antioxidant therapy. (10199753)
1999
12
Familial lipoprotein lipase deficiency in infancy: clinical, biochemical, and molecular study. (9738727)
1998
13
Familial lipoprotein lipase deficiency]. (9645014)
1998
14
Hyperinsulinemia and abdominal obesity affect the expression of hypertriglyceridemia in heterozygous familial lipoprotein lipase deficiency. (9392497)
1997
15
Familial Lipoprotein Lipase Deficiency (20301485)
1993
16
Lipolysis of triglyceride-rich lipoproteins activates coagulant factor XII: a study in familial lipoprotein-lipase deficiency. (1418087)
1992
17
Management of patients with severe hypertriglyceridaemia during pregnancy: report of two cases with familial lipoprotein lipase deficiency. (1554674)
1992
18
Adipose cell size and distribution in familial lipoprotein lipase deficiency. (1330953)
1992
19
A missense (Asp250-->Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency. (1619366)
1992
20
Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency. (1752947)
1991
21
Occurrence of multiple aberrantly spliced mRNAs upon a donor splice site mutation that causes familial lipoprotein lipase deficiency. (1761570)
1991
22
Catalytic triad residue mutation (Asp156-->Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447-->Ter) in a Turkish family. (1907278)
1991
23
Gene polymorphism identified by PvuII in familial lipoprotein lipase deficiency. (2574035)
1989
24
Familial lipoprotein lipase deficiency: abnormal lipoproteins and defective metabolism of low density lipoproteins in cultured human skin fibroblasts. (3401291)
1988
25
An incomplete form of familial lipoprotein lipase deficiency presenting with type I hyperlipoproteinemia. (3630977)
1987
26
Postheparin plasma lipoprotein lipase activity in heterozygotes of familial lipoprotein lipase deficiency. (3983953)
1985
27
Primary type 1 hyperlipoproteinemia: significance of lipoprotein lipase and hepatic triglyceride lipase activity in heterozygotes of patients with familial lipoprotein lipase deficiency. (6827414)
1983

Variations for Familial Lipoprotein Lipase Deficiency

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Expression for genes affiliated with Familial Lipoprotein Lipase Deficiency

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Search GEO for disease gene expression data for Familial Lipoprotein Lipase Deficiency.

Pathways for genes affiliated with Familial Lipoprotein Lipase Deficiency

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

idSuper pathwaysScoreTop Affiliating Genes
19.6APOA5, LPL
2
Show member pathways
9.6LIPC, LPL
3
Show member pathways
9.5LIPC, PNLIP
49.5LIPC, PNLIP
5
Show member pathways
9.2LIPC, LPL, PNLIP
6
Show member pathways
8.4APOC2, GPIHBP1, LPL, PNLIP
7
Show member pathways
8.4APOC2, GPIHBP1, LPL, PNLIP
8
Show member pathways
8.2APOA5, APOC2, LIPC, LPL
9
Show member pathways
6.7APOA5, APOC2, GPIHBP1, LIPC, LMF1, LPL
10
Show member pathways
6.7APOA5, APOC2, GPIHBP1, LIPC, LMF1, LPL

GO Terms for genes affiliated with Familial Lipoprotein Lipase Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1chylomicronGO:00426279.5APOA5, APOC2, LPL
2low-density lipoprotein particleGO:00343629.5APOA5, APOC2
3very-low-density lipoprotein particleGO:00343618.8APOA5, APOC2, LPL
4extracellular spaceGO:00056158.7APOA5, APOC2, LIPC, LPL
5high-density lipoprotein particleGO:00343648.6APOA5, APOC2, GPIHBP1, LIPC
6extracellular regionGO:00055768.1APOA5, APOC2, GPIHBP1, LIPC, LPL, PNLIP

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1fatty acid biosynthetic processGO:000663310.3LIPC, LPL
2cholesterol effluxGO:00333449.8APOA5, APOC2
3high-density lipoprotein particle remodelingGO:00343759.8APOC2, LIPC
4phospholipid effluxGO:00337009.7APOA5, APOC2
5positive regulation of fatty acid biosynthetic processGO:00457239.7APOA5, APOC2
6positive regulation of triglyceride catabolic processGO:00108989.7APOA5, APOC2
7positive regulation of very-low-density lipoprotein particle remodelingGO:00109029.7APOA5, APOC2
8lipid digestionGO:00442419.6LIPC, LMF1, PNLIP
9triglyceride catabolic processGO:00194339.6APOA5, LIPC, LPL
10chylomicron remodelingGO:00343719.5APOC2, GPIHBP1, LPL
11triglyceride-rich lipoprotein particle remodelingGO:00343709.3APOA5, APOC2
12lipid transportGO:00068699.3APOA5, APOC2, GPIHBP1
13chylomicron remnant clearanceGO:00343829.2APOC2, LIPC, LMF1
14triglyceride metabolic processGO:00066419.2APOA5, LMF1, LPL
15reverse cholesterol transportGO:00436919.1APOA5, APOC2, LIPC
16regulation of lipoprotein lipase activityGO:00510049.1GPIHBP1, LIPC, LMF1, LPL
17lipid catabolic processGO:00160429.0APOC2, LIPC, LPL, PNLIP
18lipid metabolic processGO:00066299.0APOC2, LIPC, LPL, PNLIP
19retinoid metabolic processGO:00015239.0APOC2, GPIHBP1, LPL, PNLIP
20lipoprotein metabolic processGO:00421578.9APOA5, APOC2, GPIHBP1, LPL
21very-low-density lipoprotein particle remodelingGO:00343728.8APOC2, LIPC, LPL
22positive regulation of lipoprotein lipase activityGO:00510068.6APOA5, APOC2, GPIHBP1, LMF1
23cholesterol homeostasisGO:00426328.5APOA5, APOC2, GPIHBP1, LIPC, LPL
24triglyceride homeostasisGO:00703288.2APOA5, APOC2, GPIHBP1, LIPC, LPL

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein bindingGO:003418510.2LIPC, LPL
2lipase bindingGO:003547310.1APOA5, GPIHBP1
3phospholipase activityGO:00046209.9LIPC, LPL
4carboxylic ester hydrolase activityGO:00526899.8LIPC, LPL, PNLIP
5enzyme activator activityGO:00080479.8APOA5, APOC2
6heparin bindingGO:00082019.7APOA5, LIPC, LPL
7lipoprotein lipase activator activityGO:00602309.5APOA5, APOC2
8triglyceride lipase activityGO:00048069.2LIPC, LPL, PNLIP
9lipid bindingGO:00082899.1APOA5, APOC2, GPIHBP1

Sources for Familial Lipoprotein Lipase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet