MCID: LYS002
MIFTS: 46

Lysosomal Storage Disease malady

Category: Metabolic diseases

Aliases & Classifications for Lysosomal Storage Disease

About this section

Aliases & Descriptions for Lysosomal Storage Disease:

Name: Lysosomal Storage Disease 32 10 12
Lysosomal Storage Diseases 47 36 65
Lysosomal Storage Metabolism Disorder 10
 
Inborn Lysosomal Enzyme Disorder 10
Disorder of Lysosomal Enzyme 10

Classifications:



External Ids:

Disease Ontology10 DOID:3211
MeSH36 D016464
SNOMED-CT59 23585005
NCIt42 C61250
UMLS65 C0085078

Summaries for Lysosomal Storage Disease

About this section
Disease Ontology:10 An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.

MalaCards based summary: Lysosomal Storage Disease, also known as lysosomal storage diseases, is related to fucosidosis and mucopolysaccharidosis ih/s. An important gene associated with Lysosomal Storage Disease is AGA (Aspartylglucosaminidase), and among its related pathways are Glycosphingolipid biosynthesis - globo series and Glycosphingolipid biosynthesis - ganglio series. Affiliated tissues include bone, eye and liver, and related mouse phenotypes are limbs/digits/tail and hearing/vestibular/ear.

Wikipedia:68 Lysosomal storage diseases (LSDs; /ˌlaɪsəˈsoʊməl/) are a group of approximately 50 rare inherited... more...

Related Diseases for Lysosomal Storage Disease

About this section

Diseases related to Lysosomal Storage Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 225)
idRelated DiseaseScoreTop Affiliating Genes
1fucosidosis32.9CTSA, FUCA1, GAA, HEXA
2mucopolysaccharidosis ih/s30.2GAA, GLB1, HEXA, HEXB, IDUA, NAGLU
3fabry disease10.8
4mannosidosis, beta10.6
5mannosidosis, alpha-, types i and ii10.6
6galactosialidosis10.6
7gm1-gangliosidosis, type i10.5
8aspartylglucosaminuria10.5
9mucopolysaccharidosis vii10.5
10mucopolysaccharidosis type iiic10.5
11mucopolysaccharidosis type iiid10.5
12mucopolysaccharidosis iva10.5
13mucopolysaccharidisis type iiia10.5
14cystinosis10.5
15glycoproteinosis10.5
16endotheliitis10.5
17pontiac fever10.4FUCA1, GLB1
18mucolipidosis ii alpha/beta10.4FUCA1, GUSB
19microcephaly, amish type10.4NAGLU, SGSH
20mantle cell lymphoma10.4MANBA, SGSH
21immune hydrops fetalis10.4GBA, GUSB, NEU1
22ichthyosis-short stature-brachydactyly-microspherophakia syndrome10.4GBA, GUSB
23mental retardation, autosomal recessive 4310.4FUCA1, GUSB, NEU1
24mucopolysaccharidosis iv10.4HGSNAT, NAGLU, SGSH
25kufor-rakeb syndrome10.3
26ceroid lipofuscinosis, neuronal, 110.3
27pycnodysostosis10.3
28gaucher disease, type i10.3
29gm1-gangliosidosis, type ii10.3
30mucopolysaccharidosis type ivb10.3
31mucopolysaccharidosis type ix10.3
32mucopolysaccharidosis ih10.3
33mucopolysaccharidosis is10.3
34ceroid lipofuscinosis, neuronal, 710.3
35mucopolysaccharidosis type vi10.3
36sandhoff disease, infantile, juvenile, and adult forms10.3
37gm2-gangliosidosis, ab variant10.3
38sialidosis, type i10.3
39ceroid lipofuscinosis, neuronal, 810.3
40farber lipogranulomatosis10.3
41sialuria10.3
42ceroid lipofuscinosis, neuronal, 1010.3
43ceroid lipofuscinosis, neuronal, 210.3
44ceroid lipofuscinosis, neuronal, 510.3
45ceroid lipofuscinosis, neuronal, 610.3
46ceroid lipofuscinosis, neuronal, kufs type, adult onset10.3
47tay-sachs disease10.3
48ceroid lipofuscinosis, neuronal, 310.3
49cystinosis, nephropathic10.3
50cystinosis, late-onset juvenile or adolescent nephropathic10.3

Graphical network of the top 20 diseases related to Lysosomal Storage Disease:



Diseases related to lysosomal storage disease

Symptoms for Lysosomal Storage Disease

About this section

Drugs & Therapeutics for Lysosomal Storage Disease

About this section

Drugs for Lysosomal Storage Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50)    (show all 200)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MiglustatapprovedPhase 4, Phase 3, Phase 2, Phase 12172599-27-051634
Synonyms:
(2R,3R,4R,5S)-1-butyl-2-(hydroxymethyl)piperidine-3,4,5-triol
1,5-Dideoxy-1,5-N-butylimino-D-glucitol
134282-77-2
72599-27-0
AC1L1BHJ
BuDNJ
Butyldeoxynojirimycin
CHEBI:49779
CHEBI:50381
CHEMBL1029
CID51634
D05032
DB00419
HMS2090N20
LS-116261
Miglustat
Miglustat (USAN/INN)
Miglustat Hydrochloride
Miglustat [USAN]
Miglustat, Hydrochloride
Miglustatum
N-(N-Butyl)deoxynojirimycin
N-(n-Butyl)deoxynojirimycin
N-(n-butyl)-1,5-dideoxy-1,5-imino-D-glucitol
 
N-Bu-DNJ
N-Butyl deoxynojirimycin
N-Butyl-1-deoxynojirimycin
N-Butyl-DNJ
N-Butyl-deoxynojirimycin
N-Butyldeoxynojirimycin
N-Butylmoranoline
N-butyl-1-deoxynojirimycin
NB-DNJ
NB-dnj
NBV
OGT 918
OGT-918
SC 48334
SC-48334
SC48334
UNII-ADN3S497AZ
Vevesca
Zavesca
Zavesca (TN)
miglustatum
n-Butyl deoxynojirimycin
n-Butyl dnj
nchembio.81-comp12
nchembio850-comp5
2
rituximabapprovedPhase 4, Phase 11582174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
3
Cysteamineapproved, investigationalPhase 4, Phase 3, Phase 1, Phase 22360-23-16058
Synonyms:
(2-Mercaptoethyl)amine
(Mercaptoethyl)ammonium toluene-p-sulphonate
.beta.-Mercaptoethylamine
1-Amino-2-mercaptoethylamine
139720-70-0
156-57-0 (hydrochloride)
16904-32-8 (di-hydrochloride)
2-AMINO-ETHANETHIOL
2-AMINO-ethanethiol
2-Amino-1-ethanethiol
2-Aminoethanethiol
2-Aminoethyl mercaptan
2-Mercaptoethanamine
2-Mercaptoethylamine
2-Mercaptoethylamine, polymer-bound
27761-19-9 (tartrate (1:1))
2DFDA1F8-7010-4225-8280-AB1C4C43F546
30070_FLUKA
30070_SIGMA
3037-04-5
3037-04-5 (tosylate)
42954-15-4 (hydrobromide)
60-23-1
60-23-1 (Parent)
641022_ALDRICH
93965-19-6 (maleate (1:1))
A0648
AC1L1LPL
AC1Q54NL
AKOS003793343
Aminoethyl mercaptan
Becaptan
C-9500
C01678
C2H7NS
CASH
CCRIS 3083
CHEBI:17141
CHEMBL602
CID6058
CYSTEAMINE
Cisteamina
Cisteamina [Italian]
Cystagon
Cystaran
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine Bitartrate
Cysteamine Hydrochloride
Cysteamine [USAN:BAN]
Cysteamine bitartate
Cysteamine hydrochloride
Cysteaminium
Cysteinamine
D03634
DB00847
 
Decarboxycysteine
DivK1c_006750
EINECS 200-463-0
EINECS 221-235-7
Ethanethiolamine
HSDB 7353
KBio1_001694
KBio2_002235
KBio2_004803
KBio2_007371
KBioSS_002235
L 1573
L-1573
LS-65761
Lambraten
Lambratene
Lopac-M-6500
M9768_ALDRICH
M9768_SIGMA
MEA
MEA (mercaptan)
Mecramine
Mercamin
Mercamine
Mercaptamin
Mercaptamina
Mercaptamina [INN-Spanish]
Mercaptamine
Mercaptamine (INN)
Mercaptaminum
Mercaptaminum [INN-Latin]
Mercaptoethylamine
Merkamin
MolPort-001-662-635
NCGC00015691-01
NCGC00015691-04
NCGC00162236-01
NCI60_002000
NSC 647528
NSC647528
Riacon
STK315355
SpecPlus_000654
Spectrum_001755
Thioethanolamine
UNII-5UX2SD1KE2
WR 347
b-Aminoethanethiol
b-Aminoethylthiol
b-Mercaptoethylamine
beta-Aminoethanethiol
beta-Aminoethylthiol
beta-MEA
beta-Mercaptoethylamine
bmse000388
cysteamine bitartrate
nchembio.315-comp1
nchembio.316-comp1
β-MEA
β-aminoethylthiol
4
AcetylcysteineapprovedPhase 4, Phase 1, Phase 2293616-91-112035
Synonyms:
(2R)-2-acetylamino-3-Sulfanylpropanoic acid
(R)-2-acetylamino-3-Mercaptopropanoic acid
(R)-Mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
 
Fluprowit
L-Acetylcysteine
L-alpha-acetamido-beta-Mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
5
Cyclophosphamideapproved, investigationalPhase 4, Phase 2, Phase 3264350-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
DB00531
 
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
6
MethotrexateapprovedPhase 414441959-05-2, 59-05-2126941
Synonyms:
4-amino-10-methylfolic acid
4-amino-N(10)-Methylpteroylglutamic acid
Abitrexate
Amethopterin
Amethopterine
Antifolan
Arbitrexate
Emtexate
Folex
HDMTX
L-Amethopterin
Ledertrexate
MTX
Metatrexan
Methopterin
Methotextrate
 
Methotrate
Methotrexat
Methotrexate
Methotrexate Sodium
Methotrexatum
Methylaminopterin
Methylaminopterinum
Metoject
Metotrexato
Mexate
Méthotrexate
N-Bismethylpteroylglutamic Acid
N-[4-[[(2,4-Diamino-6-pteridinyl)methyl]methylamino]benzoyl]-L-glutamic acid
Otrexup
Rasuvo
Rheumatrex
Rheumatrex Dose Pack
Trexall
7
Bortezomibapproved, investigational, experimentalPhase 4769179324-69-7387447, 93860
Synonyms:
179324-69-7
AC1L8TUW
Bortezomib
Bortezomib (JAN/USAN/INN)
CHEBI:287372
CHEBI:41143
CHEMBL325041
CID387447
D03150
DB07475
DPBA
FT-0082488
I14-3268
LDP-341
LDP341
LPD 341
LPD-341
 
MLN341
MolPort-003-845-298
N-[(1R)-1-(DIHYDROXYBORYL)-3-METHYLBUTYL]-N-(PYRAZIN-2-YLCARBONYL)-L-PHENYLALANINAMIDE
N-[(1R)-1-(DIHYDROXYBORYL)-3-methylbutyl]-N-(pyrazin-2-ylcarbonyl)-L-phenylalaninamide
N-[(1R)-1-(dihydroxyboranyl)-3-methylbutyl]-Nalpha-(pyrazin-2-ylcarbonyl)-L-phenylalaninamide
NCI60_029010
NSC-681239
NSC681239
PROSCRIPT BORONIC ACID
PS 341
PS-341
Pyz-Phe-boroLeu
S1013_Selleck
SBB071337
Velcade
Velcade (TN)
Velcade, MG-341, PS-341, Bortezomib
[(1R)-3-methyl-1-[[(2S)-3-phenyl-2-(pyrazine-2-carbonylamino)propanoyl]amino]butyl]boronic acid
bortezomib
8
Folic Acidapproved, nutraceuticalPhase 4, Phase 1, Phase 2292459-30-36037
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
9Anti-Asthmatic AgentsPhase 4, Phase 1, Phase 22796
10Respiratory System AgentsPhase 4, Phase 1, Phase 23931
11AntibodiesPhase 4, Phase 1, Phase 04477
12ImmunoglobulinsPhase 4, Phase 1, Phase 04477
13Bronchodilator AgentsPhase 4, Phase 1, Phase 22377
14Anti-Retroviral AgentsPhase 4, Phase 3, Phase 2, Phase 12794
15Adrenergic AgentsPhase 4, Phase 1, Phase 24204
16Adrenergic AgonistsPhase 4, Phase 1, Phase 22331
17Adrenergic beta-2 Receptor AgonistsPhase 4, Phase 1, Phase 2741
18Hypoglycemic AgentsPhase 4, Phase 3, Phase 2, Phase 14503
19Glycoside Hydrolase InhibitorsPhase 4, Phase 3, Phase 2, Phase 1111
20Protective AgentsPhase 4, Phase 1, Phase 25651
21Cardiac GlycosidesPhase 4, Phase 3, Phase 2, Phase 1128
22AlbuterolPhase 4, Phase 1, Phase 2384
23Neurotransmitter AgentsPhase 4, Phase 1, Phase 2, Phase 014795
24Folic Acid AntagonistsPhase 4, Phase 1, Phase 21643
25Tocolytic AgentsPhase 4, Phase 1, Phase 2561
26Immunologic FactorsPhase 4, Phase 2, Phase 3, Phase 1, Phase 018483
27Pharmaceutical SolutionsPhase 4, Phase 2, Phase 3, Phase 17004
28Dermatologic AgentsPhase 4, Phase 2, Phase 1, Phase 04555
29AntimetabolitesPhase 4, Phase 2, Phase 19454
30Antimetabolites, AntineoplasticPhase 4, Phase 2, Phase 15770
31Antirheumatic AgentsPhase 4, Phase 2, Phase 3, Phase 18496
32Immunosuppressive AgentsPhase 4, Phase 2, Phase 3, Phase 110422
33Nucleic Acid Synthesis InhibitorsPhase 4, Phase 23836
34Antiviral AgentsPhase 4, Phase 3, Phase 2, Phase 18071
35Adrenergic beta-AgonistsPhase 4, Phase 1, Phase 21266
36ExpectorantsPhase 4, Phase 1, Phase 2337
37AntioxidantsPhase 4, Phase 1, Phase 22442
38Anti-Infective AgentsPhase 4, Phase 3, Phase 2, Phase 117220
39Vitamin B ComplexPhase 4, Phase 1, Phase 22847
40Peripheral Nervous System AgentsPhase 4, Phase 2, Phase 1, Phase 018510
41N-monoacetylcystinePhase 4, Phase 1, Phase 2293
42Immunoglobulins, IntravenousPhase 4211
43Coal TarPhase 4165
44Rho(D) Immune GlobulinPhase 4206
45FolateNutraceuticalPhase 4, Phase 1, Phase 22924
46Vitamin B9NutraceuticalPhase 4, Phase 1, Phase 22924
47Folinic AcidNutraceuticalPhase 4, Phase 1, Phase 22604
48cysteineNutraceuticalPhase 4, Phase 1, Phase 2150
49
FludarabineapprovedPhase 2, Phase 3, Phase 1105921679-14-1, 75607-67-930751
Synonyms:
(2R,3S,4S,5R)-2-(6-amino-2-fluoro-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3S,4S,5R)-2-(6-amino-2-fluoropurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
2-F-ara-A
2-Fluoro Ara-A
2-Fluoro-9-beta-D-arabinofuranosyladenine
2-Fluoro-ara AMP
2-Fluoroadenine arabinoside 5'-monophosphate
21679-14-1
2F-Ara-AMP
9-beta-Arabinofuranosyl-2-fluoroadenine-5'-phosphate
9-beta-D-Arabinofuranosyl-2-fluoroadenine
9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphate)
9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-monophosphate
9-beta-D-arabinofuranosyl-2-fluoro-9H-purin-6-amine
9H-Purin-6-amine, 9-beta-D-arabinofuranosyl-2-fluoro- (9CI)
AC1LCW8I
AC1Q51CF
C10H12FN5O4
CCRIS 3382
CHEMBL1568
CID657237
CPD000058874
D07966
EINECS 244-525-5
F-Ara-A
FAMP
FT-0082766
FaraA
Fludara
 
Fludara, Fludarabine
Fludarabina
Fludarabina [Spanish]
Fludarabine
Fludarabine (INN)
Fludarabine 5'-monophosphate
Fludarabine Phosphate
Fludarabine [INN]
Fludarabine monophosphate
Fludarabine phosphate
Fludarabinum
Fludarabinum [Latin]
Fludura
Fluradosa
Fluradosa (TN)
HSDB 6964
I14-4978
LS-15061
MLS000028687
NSC 118218
NSC 118218H
NSC-118218
Oforta
S1491_Selleck
SAM002548956
SMR000058874
SQ Fludarabine
UNII-1X9VK9O1SC
UNII-P2K93U8740
ZINC04216238
50
BenzocaineapprovedPhase 3, Phase 2, Phase 116841994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
20/20 Topical Anesthetic
23239-88-5
23239-88-5 (hydrochloride)
4 Aminobenzoic Acid Ethyl Ester
4-(Ethoxycarbonyl)aniline
4-(Ethoxycarbonyl)phenylamine
4-14-00-01129 (Beilstein Handbook Reference)
4-Aminobenzoate
4-Aminobenzoic acid
4-Aminobenzoic acid ethyl ester
4-Aminobenzoic acid, ethyl ester
4-Carbethoxyaniline
4-amino-benzoic acid ethyl ester
4-aminobenzoic acid ethyl ester
71123-91-6
94-09-7
94-09-7 (Parent)
A0271
AB00051923
AC1L1DGC
AC1Q341A
AC1Q64JE
AE-562/40377256
AI3-02081
AKOS000119763
AR-1H9065
Acetate, Benzocaine
Aethoform
Aethylium paraminobenzoicum
Alcohol Prep Pads
Allegenal-m
Alpha-caine Topical Anesthetic
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anbesol Jr
Anbesol Maximum Strength
Anbesol Regular Strength
Anestenka
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthetic
Anesthone
Atopalm Oral Pain Relief
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Baby Anestenka
Baby Sensigel
Baby Sensigel Night Time Formula
Baby Teething Oral Pain Reliever
Bactimicina For Sore Throat
Bencocaine Topical Anesthetic
Bensokain
Benz O Sthetic
Benzoak
Benzocaina
Benzocaina [INN-Spanish]
Benzocaine
Benzocaine (USP/INN)
Benzocaine Acetate
Benzocaine Formate
Benzocaine Hydrobromide
Benzocaine Hydrochloride
Benzocaine Methanesulfonate
Benzocaine [INN:BAN]
Benzocainum
Benzocainum [INN-Latin]
Benzodent
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
Boil Ease
Boy Butter Desensitizing Lubricant
Boy Butter Extreme Desensitizing Lubricant
Boy Butter Extreme H2O Desensitizing Lubricant
Brace Relief
Budpak Baby Teething Oral Pain Reliever
Budpak Oral Maximum Strength
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Carmex Cold Sore Treatment External Analgesic
Caswell No. 430A
Cepacol Fizzlers
Cepacol Sensations Hydra
Cepacol Sensations Sore Throat Hydra citrus splash
Cepacol Sensations Warming
Certus Sting Relief Prep Pad
Chloraseptic
Chloraseptic Warming Sore Throat
Colgate Orabase
Comfortcaine Topical Anesthetic
Cvs Fast Acting Baby Teething
Cvs Maximum Strength
Cvs Maximum Strength Boil Relief
Cvs Oral Anesthetic
Cvs Pharmacy Instant Toothache
Cvs Pharmacy Maximum Strength
Cvs Pharmacy Mouth Sore Gel
Cvs Pharmacy Nighttime Oral Pain Relief
D001566
D00552
DB01086
Dental Relief
Dentek Instant Pain Relief Maximum Strength
Dermoplast
Diet Ayds
DivK1c_000932
Dollar General Toothache Relief
Dukal Sting Relief Pad
E1501_SIGMA
EINECS 202-303-5
EPA Pesticide Chemical Code 097001
ETHYL-P-AMINOBENZOATE
Ethoform
Ethoforme
Ethyl 4-aminobenzoate
Ethyl 4-aminobenzoate hydrochloride
Ethyl 4-aminobenzoic acid
Ethyl Aminobenzoate
Ethyl PABA
Ethyl aminobenzoate
Ethyl aminobenzoate (JP15)
Ethyl aminobenzoate (VAN)
Ethyl aminobenzoic acid
Ethyl p-Aminobenzoate
Ethyl p-Aminophenylcarboxylate
Ethyl p-aminobenzenecarboxylate
Ethyl p-aminobenzoate
Ethyl p-aminobenzoic acid
Ethyl p-aminophenylcarboxylate
Ethylester kyseliny p-aminobenzoove
Ethylester kyseliny p-aminobenzoove [Czech]
Ethylis aminobenzoas
Finafta Baby
Finafta MultiOral
Formate, Benzocaine
Gelato Topical Anesthetic
Good Neighbor Pain Relief
Goodsense Oral Pain Relief
Gps Topical Anesthetic
Gumnumb Topical Anesthetic
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Heb Severe Toothache
Herbasoul Male Genital Desensitizer Cream
 
Hurricaine
Hurricaine Topical Anesthetic
Hurricaine Topical Anesthetic Gel
Hurricaine Topical Anesthetic Liquid
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
Insect Bite Relief
Instant Toothache Pain Relief
Intense Cvs Intense Toothache
Iodent Maximum Strength Oral Analgesic
Ismile Topical Anesthetic
Jianze Sting Relief Pads
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Kank-a Mouth Pain
Keloform
Kmart Smart Sense
Kroger Toothache Pain Relief
LS-35847
Leader Oral Analgesic
Little Colds Sore Throat Relief Melt Aways
MLS001331704
MLS002153970
Makesense Junior Pain Relief
Makesense Pain Relief
Male Desensitizer Pleasure Balm
Mandelay Male Genital Desensitizer
Mark 3
Methanesulfonate, Benzocaine
MolPort-000-871-526
Mouth Sore Medication
Mouth Sore Relief Applicator
Mouth Sore Relief Professional Strength
My Fair Baby Instant Pain Relief
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Nene Dente
Norcain
Norcaine
Norcainum
Opahl
Opahl Dye Free
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orajel For All Mouth Sores Maximum Strength
Orajel For Cold Sores
Orajel For Toothache Maximum Strength
Orajel Instant Pain Relief Maximum Strength
Orajel Instant Pain Relief Regular Strength
Orajel Instant Relief For Teething Pain
Orajel Instant Relief For Teething Pain Cooling Cucumber
Orajel Instant Relief For Teething Pain Daytime Nighttime Twin Pack
Orajel Instant Relief For Teething Pain Longer Lasting
Orajel Maximum Strength
Orajel Nighttime Instant Relief For Teething Pain Longer Lasting Extra Strength
Orajel Severe Toothache Maximum Strength Fast-Acting Formula
Oral Analgesic Maximum Strength
Oral B Instant Pain Relief
Oral Gel Maximum Strength
Oral Pain Relief Anesthetic Anesthetic
Oral Pain Reliever
Oralabs Cold Sore Treatment
Orthesin
Otocain
Outgro
Pac-dent Top Gel
Pain Relief
Pain Relief Alcohol Swabs
Parathesin
Parathesin (TN)
Parathesine
Physicians Care Sting Relief Pad
Pleasure Balm Kama Sutra
Preboost
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
Purelife Topical Anesthetic
Quality Choice Maximum Strength Oral Pain Relieving
Red Cross Oral Pain Relief
Rexall Maximum Strength
Rite Aid Baby Care
Rite Aid Liquid Anesthetic Oral Pain Relief
Rite Aid Maximum Strength
Rite Aid Oral Pain Reliever
Rite Aid Professional Strength
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Sally Hansen Ouch-relief Numbing Wipes
Sally Hansen Ouch-relief Wax Kit
Sally Hansen Ouch-relief Wax Strip Kit
Sensigel
Severe Oral Pain Reliever
Sheffield Baby Teething Gel
Sheffield Pain Relief
Shunga Male Genital Desensitizer
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Sting Relief Medicated Pad
Sting Relief Pads
Tanac
Terrasil Boil Pain Relief
Tiger Supply Inc Topical Anesthetic
Top Quality Mfg. Topical Anesthetic
Topcaine
Topcare Maximum Strength
Topical Anesthetic Banana
Topical Anesthetic Bubble Gum
Topical Anesthetic Cherry
Topical Anesthetic Mint
Topical Anesthetic Pina Colada
Topical Anesthetic Raspberry
Topical Anesthetic Strawberry
UNII-U3RSY48JW5
Ultracare Anesthetic Bubble Gum
Ultracare Anesthetic Butter Rum
Ultracare Anesthetic Creme de Menthe
Ultracare Anesthetic Pina Colada
Ultracare Anesthetic Walterberry
WLN: ZR DVO2
Walgreens Baby Teething
Walgreens Intense Toothache
Walgreens Maximum Strength
Walgreens Pain Relieving For Boils
Walgreens Severe Oral Pain Reliever
Walgreens Severe Toothache Relief
Winco Foods Maximum Strength Oral Analgesic
ZINC12358719
Zilactin-b
benzocaine
ethylaminobenzoate-4
h-4-abz-oet
nchembio.182-comp4
p-(Ethoxycarbonyl)aniline
p-Aminobenzoate
p-Aminobenzoic acid
p-Aminobenzoic acid ethyl ester
p-Aminobenzoic acid, ethyl ester
p-Aminobenzoic ethyl ester
p-Carbethoxyaniline
p-Ethoxycarboxylic Aniline
p-Ethoxycarboxylic aniline

Interventional clinical trials:

(show top 50)    (show all 486)
idNameStatusNCT IDPhase
1Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase TherapyCompletedNCT00607386Phase 4
2Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher DiseaseCompletedNCT00364858Phase 4
3Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase AlfaCompletedNCT01288027Phase 4
4Late-Onset Treatment Study Extension ProtocolCompletedNCT00455195Phase 4
5High Dose or High Dose Frequency Study of Alglucosidase AlfaCompletedNCT00483379Phase 4
6An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme-naive Cross-Reacting Immunologic Material (CRIM[-]) Patients With Infantile-Onset Pompe DiseaseCompletedNCT00701129Phase 4
7Replagal Enzyme Replacement Therapy for Adults With Fabry DiseaseCompletedNCT00097890Phase 4
8Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients.CompletedNCT01997489Phase 4
9A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease.CompletedNCT00365131Phase 4
10A Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher DiseaseCompletedNCT01132690Phase 4
11A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry DiseaseCompletedNCT00140621Phase 4
12A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry DiseaseCompletedNCT00081497Phase 4
13A Study of the Safety and Efficacy of Fabrazyme (Agalsidase Beta) as Compared to Placebo in Patients With Advanced Fabry DiseaseCompletedNCT00074984Phase 4
14A Long Term Safety and Efficacy Study of Fabrazyme Replacement Therapy in Japanese Patients With Fabry Disease.CompletedNCT00233870Phase 4
15A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase BetaCompletedNCT01650779Phase 4
16N Acetyl Cysteine for Cystinosis PatientsCompletedNCT01614431Phase 4
17A Dose-optimization Study of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I (MPS I) DiseaseCompletedNCT00144781Phase 4
18A Study Investigating the Relationship Between the Development of Laronidase Antibody and Urinary GAG (Glycosaminoglycan) Levels in Aldurazyme® Treated PatientsCompletedNCT00144768Phase 4
19A Phase 4 Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With MPS VICompletedNCT00299000Phase 4
20A Study of the Effects of Fabrazyme (Agalsidase Beta) on Mother's Lactation and on the Growth, Development and Immunologic Response of Their InfantsRecruitingNCT00230607Phase 4
21Pompe Pregnancy Sub-RegistryRecruitingNCT00567073Phase 4
22Pompe Lactation Sub-RegistryRecruitingNCT00566878Phase 4
23Immune Tolerance Induction StudyRecruitingNCT00701701Phase 4
24Pharmacokinetics of Alglucosidase Alfa in Patients Aged 8 Years of Age and OlderRecruitingNCT01410890Phase 4
25Canadian Fabry Disease Initiative (CFDI) Enzyme Replacement Therapy (ERT) StudyRecruitingNCT00455104Phase 4
26Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry DiseaseRecruitingNCT00487630Phase 4
27The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher DiseaseRecruitingNCT02528617Phase 4
28CPAP for Infantile Pompe DiseaseRecruitingNCT02405624Phase 4
29Immune Modulation Therapy for Pompe DiseaseRecruitingNCT02525172Phase 4
30Synergistic Enteral Regimen for Treatment of the GangliosidosesRecruitingNCT02030015Phase 4
31This Study is to Evaluate the Effect of Velaglucerase Alfa (VPRIV®) on Patients With Type 1 Gaucher Disease Through the IV Administration of VPRIV® Over 2 YearsRecruitingNCT02574286Phase 4
32Use of Cysteamine in the Treatment of CystinosisRecruitingNCT00359684Phase 4
33Mucopolysaccharidosis (MPS) VI Clinical Surveillance Program (CSP)RecruitingNCT00214773Phase 4
34A Study of the Effect of Aldurazyme® (Laronidase) Treatment on Lactation in Female Patients With Mucopolysaccharidosis I (MPS I) and Their Breastfed InfantsRecruitingNCT00418821Phase 4
35Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of AgeRecruitingNCT02455622Phase 4
36Growth and Development Study of Alglucosidase Alfa.Active, not recruitingNCT00486889Phase 4
37Evaluation of Salbutamol as an Adjuvant Therapy for Pompe DiseaseActive, not recruitingNCT02405598Phase 4
38A Noninferiority Study of Alglucosidase Alfa Manufactured at the 160 L and 4000 L Scales in Treatment Naïve Patients With Infantile-Onset Pompe DiseaseTerminatedNCT01597596Phase 4
39A Study to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale for Pompe DiseaseTerminatedNCT01526785Phase 4
40Morquio's Syndrome: a Case StudyTerminatedNCT00609440Phase 4
41A Study in Patients With Fabry Disease Who Are on Chronic Hemodialysis Therapy for Treatment of End-stage Renal Insufficiency.WithdrawnNCT00312767Phase 4
42Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving IdursulfaseCompletedNCT00630747Phase 2, Phase 3
43Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human GlucocerebrosidaseCompletedNCT00712348Phase 3
44A Phase III Trial to Assess the Safety and Efficacy of Plant Cell Expressed GCD in Patients With Gaucher DiseaseCompletedNCT00376168Phase 3
45Open-Label Phase 3 Long-Term Safety Study of MigalastatCompletedNCT01458119Phase 3
46Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension TrialCompletedNCT00705939Phase 3
47Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With ImigluceraseCompletedNCT00478647Phase 2, Phase 3
48Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher DiseaseCompletedNCT00553631Phase 3
49A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher DiseaseCompletedNCT00430625Phase 3
50A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)CompletedNCT01275066Phase 3

Search NIH Clinical Center for Lysosomal Storage Disease

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Lysosomal Storage Disease cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Lysosomal Storage Disease:
ALD-601, umbilical cord blood cells for early infantile-onset lysosomal storage diseases
Hemacord
Embryonic/Adult Cultured Cells Related to Lysosomal Storage Disease:
Umbilical cord blood ALDH+ cells (ALD-151), PMID: 17882722
Umbilical cord blood-derived hematopoietic progenitor cells (HEMACORD, PMID: 9828244


Cochrane evidence based reviews: lysosomal storage diseases

Genetic Tests for Lysosomal Storage Disease

About this section

Anatomical Context for Lysosomal Storage Disease

About this section

MalaCards organs/tissues related to Lysosomal Storage Disease:

33
Bone, Eye, Liver, Bone marrow, Kidney, Brain, Testes

Animal Models for Lysosomal Storage Disease or affiliated genes

About this section

MGI Mouse Phenotypes related to Lysosomal Storage Disease:

38 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.7ARSB, GUSB, HEXA, HEXB, IDS, IDUA
2MP:00053779.1ARSA, ARSB, GUSB, HEXA, HEXB, IDUA
3MP:00107719.1AGA, CTSA, GBA, GUSB, IDS, IDUA
4MP:00053699.0ARSB, CTNS, GAA, HEXB, IDUA, NEU1
5MP:00053919.0ARSB, CTNS, HEXA, HEXB, IDS, IDUA
6MP:00053899.0ARSB, CTSA, GLB1, GUSB, HEXA, HEXB
7MP:00053828.9ARSB, CTSA, GUSB, HEXA, HEXB, IDS
8MP:00053708.5AGA, CTSA, GBA, GLB1, HEXA, HEXB
9MP:00053858.5ARSB, CTSA, GAA, GBA, IDUA, MANBA
10MP:00107688.0AGA, CTSA, GBA, GLB1, GUSB, HEXA
11MP:00053677.9AGA, ARSB, CTNS, CTSA, GLB1, GUSB
12MP:00053877.9ARSA, CTSA, GBA, GLB1, HEXB, IDS
13MP:00036317.9AGA, ARSA, ARSB, GBA, GLB1, HEXA
14MP:00053787.8AGA, ARSB, CTSA, GAA, GBA, GLB1
15MP:00053907.6ARSB, CTNS, GAA, GBA, GLB1, GUSB
16MP:00053767.6AGA, ARSA, ARSB, CTNS, CTSA, GAA
17MP:00053977.5ARSA, ARSB, CTSA, GBA, GLB1, GUSB
18MP:00053847.3AGA, ARSB, CTNS, CTSA, GAA, GBA
19MP:00053866.9AGA, ARSA, ARSB, CTNS, CTSA, GAA

Publications for Lysosomal Storage Disease

About this section

Articles related to Lysosomal Storage Disease:

(show top 50)    (show all 187)
idTitleAuthorsYear
1
Experimental provocation of 'ice-cream headache' by ice cubes and ice water. (27206961)
2016
2
Polymorphisms in phase I and phase II genes and breast cancer risk and relations to persistent organic pollutant exposure: a case-control study in Inuit women. (24629213)
2014
3
Klippel-Trenaunay syndrome presenting with acanthocytosis and splenic and retroperitoneal lymphangioma: a case report. (25427442)
2014
4
Loss of renal function causes premature aging of the immune system. (24496187)
2013
5
Temporal trends in obesity, osteoporosis treatment, bone mineral density and fracture rates: A population-based historical cohort study. (24115100)
2013
6
Incidence of chronic bronchitis in a cohort of pulp mill workers with repeated gassings to sulphur dioxide and other irritant gases. (24354705)
2013
7
Should adjustment disorder be conceptualized as transitional disorder? In pursuit of adjustment disorders definition. (22548438)
2012
8
Positive result in the early passive phase of the tilt-table test: a predictor of neurocardiogenic syncope in young men. (22403501)
2012
9
Vitamin E succinate (VES) inhibits cell growth and induces apoptosis by mitochondrial-derived ROS in SGC-7901 cells. (20424542)
2010
10
Low serum BDNF and food intake regulation: a possible new explanation of the pathophysiology of eating disorders. (19152823)
2009
11
Carcinoma ex spiradenoma/cylindroma confirmed by immunohistochemical and molecular loss-of-heterozygosity profiling. (19684510)
2009
12
Activation of tumour-necrosis factor-related apoptosis-inducing ligand receptor enhances the severity of murine allergic conjunctivitis. (18782797)
2009
13
Interactions between metallopeptidase 3 polymorphism rs679620 and BMI in predicting blood pressure in African-American women with hypertension. (19008710)
2008
14
Changes in the status of p53 affect drug sensitivity to thymidylate synthase (TS) inhibitors by altering TS levels. (17339891)
2007
15
Human cataract lens membrane at subnanometer resolution. (17920625)
2007
16
Analysis of keratin polypeptides 8 and 19 variants in inflammatory bowel disease. (17509943)
2007
17
Mitochondrial alterations in human gastric carcinoma cell line. (17537807)
2007
18
Collagenous gastritis. (17957644)
2007
19
Haplotype analyses of the APOA5 gene in patients with familial combined hyperlipidemia. (17157483)
2007
20
Interdomain A is crucial for ITAM-dependent and -independent regulation of Syk. (17936247)
2007
21
Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population. (16597330)
2006
22
Preoperative catheterization of H-type tracheoesophageal fistula to facilitate its localization and surgical correction. (16544220)
2006
23
Localisation of bullous pemphigoid antigen 180 (BP180) in cultured human keratinocytes: functionally relevant modification by calcium. (16906396)
2006
24
Fecal incontinence and spinal cord abnormalities in seven dogs. (16379631)
2005
25
Expression of MHC class I receptors confers functional intraclonal heterogeneity to a reactive expansion of gammadelta T cells. (15864777)
2005
26
Subcutaneous sumatriptan induces changes in frequency pattern in cluster headache patients. (15209695)
2004
27
Methylenetetrahydrofolate reductase gene polymorphisms and response to fluorouracil-based treatment in advanced colorectal cancer patients. (15608557)
2004
28
DiGeorge syndrome with truncus arteriosus: report of one case. (15493739)
2004
29
Activation of calcium-dependent calmodulin by calcium(II)3(3,5-diisopropylsalicylate)6(H2O)6 decreases thrombin receptor activating peptide-induced P-selectin expression. (12632022)
2003
30
HSP27 is a ubiquitin-binding protein involved in I-kappaBalpha proteasomal degradation. (12897149)
2003
31
Growing significance of myeloperoxidase in non-infectious diseases. (11916266)
2002
32
The hemochromatosis protein HFE inhibits iron export from macrophages. (12429850)
2002
33
Relationship between the type of RET/GDNF/NTN or SOX10 gene mutations and long-term results after surgery for total colonic aganglionosis with small bowel involvement. (11685702)
2001
34
Time course of nitric oxide synthase generation after gluten exposure in the rectal mucosa of gluten-sensitive patients. (11145285)
2000
35
Thallium-201 myocardial SPET in patients with collagen disease. (11039455)
2000
36
Characterization of molecular forms of acetyl- and butyrylcholinesterase in human acoustic neurinomas. (10530519)
1999
37
Parathyroid-hormone-related-protein-producing thymic carcinoma presenting as a giant extrathoracic mass. (9523373)
1998
38
Very low-dose adjuvant chemotherapy in steroid receptor negative stage I breast cancer patients. Austrian Breast Cancer Study Group. (9624239)
1998
39
Immunohistochemical expression of glutathione S-transferase-Pi can predict chemotherapy response in patients with nonsmall cell lung carcinoma. (8697385)
1996
40
A controlled trial of nevirapine plus zidovudine versus zidovudine alone in p24 antigenaemic HIV-infected patients. The Dutch-Italian-Australian Nevirapine Study Group. (8780818)
1996
41
Chronic paroxysmal hemicrania and hemicrania continua. Interval between indomethacin administration and response. (8666531)
1996
42
Frequency of mannose-binding protein deficiency in patients with systemic lupus erythematosus. (7488298)
1995
43
Clinical advances in mastocytosis. (8788545)
1995
44
Laboratory data which differentiate meropenem and imipenem. (7652504)
1995
45
Role of interleukin-4 in human immunoglobulin E formation in hu-PBL-SCID mice. (8113405)
1994
46
Quantitative relationships between suckling-induced teat stimulation and the release of prolactin, gastrin, somatostatin, insulin, glucagon and vasoactive intestinal polypeptide in sows. (1685275)
1991
47
Signal transduction pathway activating interferon-alpha-stimulated gene expression. (1931718)
1991
48
Studies on ascorbic acid related to the genetic basis of scurvy. (105472)
1978
49
Probable dominant inheritance in Blount's disease. (880738)
1977
50
ENDOCARDIAL FIBROELASTOSIS. (14147793)
1964

Variations for Lysosomal Storage Disease

About this section

Expression for genes affiliated with Lysosomal Storage Disease

About this section
Search GEO for disease gene expression data for Lysosomal Storage Disease.

Pathways for genes affiliated with Lysosomal Storage Disease

About this section

Pathways related to Lysosomal Storage Disease according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
110.0HEXA, HEXB
2
Show member pathways
9.7GLB1, HEXA, HEXB
3
Show member pathways
9.7GLB1, HEXA, HEXB
4
Show member pathways
8.7AGA, FUCA1, GBA, GLB1, HEXA, HEXB
5
Show member pathways
8.6ARSB, GLB1, GUSB, HEXA, HEXB, IDS
6
Show member pathways
8.6ARSA, ARSB, CTSA, GBA, GLB1, HEXA
7
Show member pathways
8.3ARSB, GLB1, GUSB, HEXA, HEXB, HGSNAT
8
Show member pathways
8.0ARSB, GAA, GLB1, GUSB, HEXA, HEXB
9
Show member pathways
6.8ARSA, ARSB, CTSA, GAA, GBA, GLB1
106.1AGA, ARSA, ARSB, CTNS, CTSA, FUCA1

GO Terms for genes affiliated with Lysosomal Storage Disease

About this section

Cellular components related to Lysosomal Storage Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:00432029.8ARSA, NEU1, TPP1
2lysosomeGO:00057649.4AGA, CTSA, GUSB, IDUA, MANBA

Biological processes related to Lysosomal Storage Disease according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1response to methylmercuryGO:005159710.6ARSA, ARSB
2lysosome organizationGO:000704010.4ARSB, NAGLU
3hyaluronan metabolic processGO:003021210.4GUSB, HEXA, HEXB
4response to pHGO:000926810.4ARSB, GBA
5keratan sulfate catabolic processGO:004234010.4GLB1, HEXA, HEXB
6sphingolipid metabolic processGO:000666510.3GBA, HEXA, HEXB
7chondroitin sulfate metabolic processGO:003020410.2HEXA, HEXB
8dolichol-linked oligosaccharide biosynthetic processGO:000648810.1CTSA, GLB1, NEU1
9glycosphingolipid metabolic processGO:000668710.0ARSB, CTSA, HEXA, HEXB
10chondroitin sulfate catabolic processGO:003020710.0ARSB, HEXA, HEXB, IDS, IDUA
11glycosaminoglycan catabolic processGO:00060279.8FUCA1, GLB1, HGSNAT, IDS, NAGLU, SGSH
12post-translational protein modificationGO:00436879.4ARSA, ARSB, CTSA, GLB1
13cellular protein metabolic processGO:00442679.3CTSA, FUCA1, HEXB, NEU1, TPP1
14carbohydrate metabolic processGO:00059758.9FUCA1, GLB1, GUSB, HEXB, HGSNAT, IDS

Molecular functions related to Lysosomal Storage Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sulfuric ester hydrolase activityGO:00084849.9ARSB, IDS, SGSH

Sources for Lysosomal Storage Disease

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