MCID: LYS002
MIFTS: 52

Lysosomal Storage Disease malady

Category: Metabolic diseases

Aliases & Classifications for Lysosomal Storage Disease

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Aliases & Descriptions for Lysosomal Storage Disease:

Name: Lysosomal Storage Disease 35 11 13
Lysosomal Storage Diseases 50 39 68
Lysosomal Storage Metabolism Disorder 11
 
Inborn Lysosomal Enzyme Disorder 11
Disorder of Lysosomal Enzyme 11

Classifications:



External Ids:

Disease Ontology11 DOID:3211
MeSH39 D016464
SNOMED-CT62 23585005
NCIt45 C61250

Summaries for Lysosomal Storage Disease

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Disease Ontology:11 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 - ganglio series and Sphingolipid metabolism. Affiliated tissues include bone, liver and brain, and related mouse phenotypes are limbs/digits/tail and hearing/vestibular/ear.

Wikipedia:71 Lysosomal storage diseases (LSDs; /ˌlaɪsəˈsoʊməl/) are a group of approximately 50 rare inherited... more...

Related Diseases for Lysosomal Storage Disease

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

(show top 50)    (show all 114)
idRelated DiseaseScoreTop Affiliating Genes
1fucosidosis33.3AGA, CTSA, FUCA1, HEXA
2mucopolysaccharidosis ih/s31.6HEXA, HEXB, IDUA, NAGLU
3galactosialidosis11.4
4aspartylglucosaminuria11.3
5cystinosis11.3
6mucopolysaccharidosis vii11.3
7mucopolysaccharidosis11.2
8mannosidosis, beta11.1
9sialidosis, type i11.1
10mannosidosis, alpha-, types i and ii11.1
11gm1-gangliosidosis, type i11.0
12mucopolysaccharidosis type iiic11.0
13mucopolysaccharidosis type iiid11.0
14mucopolysaccharidosis iva11.0
15mucopolysaccharidisis type iiia11.0
16kufor-rakeb syndrome10.8
17ceroid lipofuscinosis, neuronal, 110.8
18pycnodysostosis10.8
19gaucher disease, type i10.8
20gm1-gangliosidosis, type ii10.8
21mucopolysaccharidosis type ivb10.8
22mucopolysaccharidosis type ix10.8
23mucopolysaccharidosis ih10.8
24mucopolysaccharidosis is10.8
25ceroid lipofuscinosis, neuronal, 710.8
26mucopolysaccharidosis type vi10.8
27sandhoff disease, infantile, juvenile, and adult forms10.8
28gm2-gangliosidosis, ab variant10.8
29ceroid lipofuscinosis, neuronal, 810.8
30farber lipogranulomatosis10.8
31sialuria10.8
32ceroid lipofuscinosis, neuronal, 1010.8
33ceroid lipofuscinosis, neuronal, 210.8
34ceroid lipofuscinosis, neuronal, 510.8
35ceroid lipofuscinosis, neuronal, 610.8
36ceroid lipofuscinosis, neuronal, kufs type, adult onset10.8
37tay-sachs disease10.8
38ceroid lipofuscinosis, neuronal, 310.8
39cystinosis, nephropathic10.8
40cystinosis, late-onset juvenile or adolescent nephropathic10.8
41mucopolysaccharidosis type iiib10.8
42ceroid lipofuscinosis, neuronal, 1110.8
43glycogen storage disease ii10.8
44ceroid lipofuscinosis, neuronal, 4, parry type10.8
45metachromatic leukodystrophy10.8
46fabry disease10.8
47mucopolysaccharidosis ii10.8
48ceroid lipofuscinosis, neuronal, 13, kufs type10.8
49cystinosis, ocular nonnephropathic10.8
50mucopolysaccharidosis iii10.8

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



Diseases related to lysosomal storage disease

Symptoms & Phenotypes for Lysosomal Storage Disease

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MGI Mouse Phenotypes related to Lysosomal Storage Disease according to GeneCards Suite gene sharing:

41 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.7ARSB, GUSB, HEXA, HEXB, IDS, IDUA
2MP:00053779.3ARSA, ARSB, GUSB, HEXA, HEXB, IDUA
3MP:00053699.3ARSB, CTNS, HEXB, IDUA, MAN2B1, NEU1
4MP:00053899.0ARSB, CLN3, CTSA, GUSB, HEXA, HEXB
5MP:00107719.0AGA, CTSA, GBA, GUSB, IDS, IDUA
6MP:00053829.0ARSB, CTSA, GUSB, HEXA, HEXB, IDS
7MP:00053908.5ARSB, CTNS, GBA, GUSB, HEXA, HEXB
8MP:00053918.4ARSB, CLN3, CTNS, HEXA, HEXB, IDS
9MP:00053708.3AGA, CLN3, CTSA, GBA, HEXA, HEXB
10MP:00053858.2ARSB, CTSA, GBA, IDUA, MAN2B1, MANBA
11MP:00107688.2AGA, CLN3, CTSA, GBA, GUSB, HEXA
12MP:00053788.2AGA, ARSB, CTSA, GBA, GUSB, HEXA
13MP:00053878.1ARSA, CLN3, CTSA, GBA, HEXB, IDS
14MP:00053977.9ARSA, ARSB, CLN3, CTSA, GBA, GUSB
15MP:00053847.5AGA, ARSB, CLN3, CTNS, CTSA, GBA
16MP:00053677.5AGA, ARSB, CLN3, CTNS, CTSA, GUSB
17MP:00053767.5AGA, ARSA, ARSB, CLN3, CTNS, CTSA
18MP:00036317.4AGA, ARSA, ARSB, CLN3, GBA, HEXA
19MP:00053866.9AGA, ARSA, ARSB, CLN3, CTNS, CTSA

Drugs & Therapeutics for Lysosomal Storage Disease

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

(show top 50)    (show all 222)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Cyclophosphamideapproved, investigationalPhase 4, Phase 2, Phase 3282950-18-0, 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
Anhydrous cyclophosphamide
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
2
Cysteamineapproved, investigationalPhase 4, Phase 3, Phase 2, Phase 12760-23-16058
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]
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
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
3
MethotrexateapprovedPhase 415181959-05-2, 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 Sodium
Methotrexatum
Methylaminopterin
Methylaminopterinum
Metotrexato
Mexate
Méthotrexate
N-Bismethylpteroylglutamic Acid
N-[4-[[(2,4-Diamino-6-pteridinyl)methyl]methylamino]benzoyl]-L-glutamic acid
Rheumatrex
Trexall
4
rituximabapprovedPhase 4, Phase 11654174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
5
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 [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
6
AcetylcysteineapprovedPhase 4, Phase 1, Phase 2316616-91-112035
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
7
Bortezomibapproved, investigationalPhase 4794179324-69-7387447, 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
Pyz-Phe-boroLeu
S1013_Selleck
SBB071337
Velcade
Velcade (TN)
Velcade, MG-341, PS-341, Bortezomib
[(1R)-3-methyl-1-({(2S)-3-phenyl-2-[(pyrazin-2-ylcarbonyl)amino]propanoyl}amino)butyl]boronic acid
[(1R)-3-methyl-1-[[(2S)-3-phenyl-2-(pyrazine-2-carbonylamino)propanoyl]amino]butyl]boronic acid
bortezomib
8
Coal tarapprovedPhase 41918007-45-2
Synonyms:
 
Coal tars
Tar, coal
9
Folic Acidapproved, nutraceutical, vet_approvedPhase 4, Phase 1, Phase 2427959-30-36037
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 (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
10
Alfacalcidolapproved, nutraceuticalPhase 45241294-56-85282181
Synonyms:
(5Z,7e)-9,10-Seco-5,7,10(19)-cholestatrien-1alpha,3beta-diol
1-Hydroxycholecalciferol
1-hydroxycholecalciferol
1alpha-Hydroxy-vitamin D3
 
1alpha-hydroxycholecalciferol
1alpha-hydroxyvitamin D3
9,10-Secocholesta-5,7,10(19)-triene-1alpha,3beta-diol
Alfacalcidolum
Alsiodol
11
1-DeoxynojirimycinexperimentalPhase 4, Phase 3, Phase 2, Phase 12619130-96-21374
Synonyms:
(2R,3R,4R,5S)-2-(Hydroxymethyl)piperidine-3,4,5-triol
1 deoxynojirimycin
1,5-Dideoxy-1,5-imino-D-glucitol, 9CI
1,5-deoxy-1,5-imino-D-mannitol
1,5-dideoxy-1,5-imino-D-glucitol
1-DEOXY-NOJIRIMYCIN
1-Deoxymannojirimycin
1-Deoxynojirimycin
1-Deoxynojirimycin (DNJ)
1-deoxy-nojirimycin
 
1-deoxynojirimycin
1hxk
1oim
5-amino-1,5-dideoxy-D-glucopyranose
Antibiotic S-GI
D-1-deoxynojirimycin
DNJ
Deoxynojirimycin
Moranoline
NOJ
S-GI
12Immunosuppressive AgentsPhase 4, Phase 2, Phase 3, Phase 112770
13Pharmaceutical SolutionsPhase 4, Phase 2, Phase 3, Phase 17793
14Alkylating AgentsPhase 4, Phase 2, Phase 34694
15Antineoplastic Agents, AlkylatingPhase 4, Phase 2, Phase 34474
16ImmunoglobulinsPhase 4, Phase 1, Early Phase 16045
17Bronchodilator AgentsPhase 4, Phase 1, Phase 22856
18Peripheral Nervous System AgentsPhase 4, Phase 2, Phase 1, Early Phase 122776
19Tocolytic AgentsPhase 4, Phase 1, Phase 2708
20AntibodiesPhase 4, Phase 1, Early Phase 16045
21Hypoglycemic AgentsPhase 4, Phase 3, Phase 2, Phase 15733
22Cardiac GlycosidesPhase 4, Phase 3, Phase 2, Phase 1148
23MicronutrientsPhase 4, Phase 25802
24Trace ElementsPhase 4, Phase 25802
25vitamin dPhase 4, Phase 21653
26Bone Density Conservation AgentsPhase 4, Phase 23266
27Autonomic AgentsPhase 4, Phase 2, Phase 19774
28VitaminsPhase 4, Phase 25095
29Anti-Retroviral AgentsPhase 4, Phase 3, Phase 2, Phase 13232
30Anti-HIV AgentsPhase 4, Phase 3, Phase 2, Phase 13100
31Glycoside Hydrolase InhibitorsPhase 4, Phase 3, Phase 2, Phase 1128
32Neurotransmitter AgentsPhase 4, Phase 2, Phase 1, Early Phase 117734
33Protective AgentsPhase 4, Phase 1, Phase 27190
34N-monoacetylcystinePhase 4, Phase 1, Phase 2316
35ExpectorantsPhase 4, Phase 1, Phase 2388
36Antiviral AgentsPhase 4, Phase 3, Phase 2, Phase 19732
37Dermatologic AgentsPhase 4, Phase 2, Phase 1, Early Phase 15674
38Anti-Asthmatic AgentsPhase 4, Phase 1, Phase 23369
39AntimetabolitesPhase 4, Phase 2, Phase 111774
40Antimetabolites, AntineoplasticPhase 4, Phase 2, Phase 17171
41Antirheumatic AgentsPhase 4, Phase 2, Phase 3, Phase 110627
42Folic Acid AntagonistsPhase 4, Phase 1, Phase 22200
43AntioxidantsPhase 4, Phase 1, Phase 22928
44Adrenergic beta-2 Receptor AgonistsPhase 4, Phase 1, Phase 2925
45Adrenergic beta-AgonistsPhase 4, Phase 1, Phase 21640
46AlbuterolPhase 4, Phase 1, Phase 2408
47AntidotesPhase 4, Phase 1, Phase 21038
48Adrenergic AgonistsPhase 4, Phase 1, Phase 22877
49Adrenergic AgentsPhase 4, Phase 2, Phase 15140
50Nucleic Acid Synthesis InhibitorsPhase 4, Phase 24855

Interventional clinical trials:

(show top 50)    (show all 530)
idNameStatusNCT IDPhase
1Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry DiseaseUnknown statusNCT00487630Phase 4
2Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase TherapyCompletedNCT00607386Phase 4
3Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher DiseaseCompletedNCT00364858Phase 4
4Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase AlfaCompletedNCT01288027Phase 4
5N Acetyl Cysteine for Cystinosis PatientsCompletedNCT01614431Phase 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
7High Dose or High Dose Frequency Study of Alglucosidase AlfaCompletedNCT00483379Phase 4
8Late-Onset Treatment Study Extension ProtocolCompletedNCT00455195Phase 4
9Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients.CompletedNCT01997489Phase 4
10Evaluation of Salbutamol as an Adjuvant Therapy for Pompe DiseaseCompletedNCT02405598Phase 4
11Replagal Enzyme Replacement Therapy for Adults With Fabry DiseaseCompletedNCT00097890Phase 4
12A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry DiseaseCompletedNCT00140621Phase 4
13A Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher DiseaseCompletedNCT01132690Phase 4
14A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry DiseaseCompletedNCT00081497Phase 4
15A Study of the Safety and Efficacy of Fabrazyme (Agalsidase Beta) as Compared to Placebo in Patients With Advanced Fabry DiseaseCompletedNCT00074984Phase 4
16A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease.CompletedNCT00365131Phase 4
17A Long Term Safety and Efficacy Study of Fabrazyme Replacement Therapy in Japanese Patients With Fabry Disease.CompletedNCT00233870Phase 4
18A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase BetaCompletedNCT01650779Phase 4
19A Dose-optimization Study of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I (MPS I) DiseaseCompletedNCT00144781Phase 4
20A Phase 4 Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With MPS VICompletedNCT00299000Phase 4
21A Study Investigating the Relationship Between the Development of Laronidase Antibody and Urinary GAG (Glycosaminoglycan) Levels in Aldurazyme® Treated PatientsCompletedNCT00144768Phase 4
22A Study of the Effects of Fabrazyme (Agalsidase Beta) on Mother's Lactation and on the Growth, Development and Immunologic Response of Their InfantsRecruitingNCT00230607Phase 4
23Use of Cysteamine in the Treatment of CystinosisRecruitingNCT00359684Phase 4
24Pompe Lactation Sub-RegistryRecruitingNCT00566878Phase 4
25Pompe Pregnancy Sub-RegistryRecruitingNCT00567073Phase 4
26Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe DiseaseRecruitingNCT01410890Phase 4
27Immune Tolerance Induction StudyRecruitingNCT00701701Phase 4
28CPAP for Infantile Pompe DiseaseRecruitingNCT02405624Phase 4
29Canadian Fabry Disease Initiative (CFDI) Enzyme Replacement Therapy (ERT) StudyRecruitingNCT00455104Phase 4
30Immune Modulation Therapy for Pompe DiseaseRecruitingNCT02525172Phase 4
31The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher DiseaseRecruitingNCT02528617Phase 4
32Phase 4 Study 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
33Synergistic Enteral Regimen for Treatment of the GangliosidosesRecruitingNCT02030015Phase 4
34Mucopolysaccharidosis (MPS) VI Clinical Surveillance Program (CSP)RecruitingNCT00214773Phase 4
35A Study of the Effect of Aldurazyme® (Laronidase) Treatment on Lactation in Female Patients With Mucopolysaccharidosis I (MPS I) and Their Breastfed InfantsRecruitingNCT00418821Phase 4
36Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of AgeRecruitingNCT02455622Phase 4
37Growth and Development Study of Alglucosidase Alfa.Active, not recruitingNCT00486889Phase 4
38Pharmacokinetics, Pharmacodynamics And Safety Study Of Elelyso(tm) In Pediatric Subjects With Type 1 Gaucher DiseaseNot yet recruitingNCT03021941Phase 4
39A Noninferiority Study of Alglucosidase Alfa Manufactured at the 160 L and 4000 L Scales in Treatment Naïve Patients With Infantile-Onset Pompe DiseaseTerminatedNCT01597596Phase 4
40A Study to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale for Pompe DiseaseTerminatedNCT01526785Phase 4
41Morquio's Syndrome: a Case StudyTerminatedNCT00609440Phase 4
42A Study in Patients With Fabry Disease Who Are on Chronic Hemodialysis Therapy for Treatment of End-stage Renal Insufficiency.WithdrawnNCT00312767Phase 4
43Hematopoietic Stem Cell Transplantation for MucopolysaccharidosisUnknown statusNCT01238328Phase 2, Phase 3
44BMN 110 Phase 3B in Australian PatientsUnknown statusNCT01966029Phase 3
45Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving IdursulfaseCompletedNCT00630747Phase 2, Phase 3
46A Phase III Trial to Assess the Safety and Efficacy of Plant Cell Expressed GCD in Patients With Gaucher DiseaseCompletedNCT00376168Phase 3
47Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension TrialCompletedNCT00705939Phase 3
48Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With ImigluceraseCompletedNCT00478647Phase 2, Phase 3
49Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher DiseaseCompletedNCT00553631Phase 3
50A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher DiseaseCompletedNCT00430625Phase 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), PMIDs: 17882722
Umbilical cord blood-derived hematopoietic progenitor cells (HEMACORD, PMIDs: 9828244


Cochrane evidence based reviews: lysosomal storage diseases

Genetic Tests for Lysosomal Storage Disease

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Anatomical Context for Lysosomal Storage Disease

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MalaCards organs/tissues related to Lysosomal Storage Disease:

36
Bone, Liver, Brain, Bone marrow, Eye, Testes, Kidney

Publications for Lysosomal Storage Disease

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Articles related to Lysosomal Storage Disease:

(show top 50)    (show all 192)
idTitleAuthorsYear
1
A canine model for neuronal ceroid lipofuscinosis highlights the promise of gene therapy for lysosomal storage diseases. (27867988)
2016
2
Low-dose gene therapy reduces the frequency of enzyme replacement therapy in a mouse model of lysosomal storage disease. (27658524)
2016
3
The lysosomal storage disease continuum with ageing-related neurodegenerative disease. (27516378)
2016
4
Therapy Development for the Lysosomal Storage Disease Fucosidosis using the Canine Animal Model. (27491218)
2016
5
Fusion of lysosomes with secretory organelles leads to uncontrolled exocytosis in the lysosomal storage disease mucolipidosis type IV. (26682800)
2016
6
MRI and MRS findings in fucosidosis; a rare lysosomal storage disease. (26515723)
2015
7
Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis. (25586965)
2015
8
Lysosomal storage disease as an etiology of nonimmune hydrops. (25305402)
2015
9
Property of lysosomal storage disease associated with midbrain pathology in the central nervous system of Lamp-2-deficient mice. (25998250)
2015
10
Suspected natural lysosomal storage disease from ingestion of pink morning glory (Ipomoea carnea) in goats in northern Argentina. (25728544)
2015
11
Lysosomal storage disease in the brain: mutations of the I^-mannosidase gene identified in autosomal dominant nystagmus. (25741867)
2015
12
Lysosomal storage disease: gene therapy on both sides of the blood-brain barrier. (25410058)
2015
13
Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease. (26085577)
2015
14
Oligodendrocyte loss during the disease course in a canine model of the lysosomal storage disease fucosidosis. (24806306)
2014
15
Very prolonged liposomal amphotericin B use leading to a lysosomal storage disease. (24787480)
2014
16
Similar therapeutic efficacy between a single administration of gene therapy and multiple administrations of recombinant enzyme in a mouse model of lysosomal storage disease. (24725025)
2014
17
New Players in the Infertility of a Mouse Model of Lysosomal Storage Disease: The Hypothalamus-Pituitary-Gonadal Axis. (24432014)
2014
18
LAMP2 as a marker of EBV-mediated B lymphocyte transformation in the study of lysosomal storage diseases. (24068328)
2014
19
Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations. (24255892)
2013
20
Reply-nonimmune hydrops fetalis and lysosomal storage diseases. (24120156)
2013
21
Nonimmune hydrops fetalis and lysosomal storage diseases. (24120157)
2013
22
Amyloidosis, Synucleinopathy, and Prion Encephalopathy in a Neuropathic Lysosomal Storage Disease: The CNS-Biomarker Potential of Peripheral Blood. (24278249)
2013
23
Nonimmune fetal hydrops and lysosomal storage disease: the finding of vacuolated lymphocytes in ascitic fluid in two cases. (24284886)
2013
24
A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage disease. (23850077)
2013
25
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. (24038957)
2013
26
High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba. (22911605)
2012
27
GM130 gain-of-function induces cell pathology in a model of lysosomal storage disease. (22156940)
2012
28
Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases. (22991292)
2012
29
Production of I+-L-iduronidase in maize for the potential treatment of a human lysosomal storage disease. (22990858)
2012
30
Dysregulation of gene expression in a lysosomal storage disease varies between brain regions implicating unexpected mechanisms of neuropathology. (22403656)
2012
31
Sialic acid deposition impairs the utility of AAV9, but not peptide-modified AAVs for brain gene therapy in a mouse model of lysosomal storage disease. (22588273)
2012
32
Gene therapy approaches for lysosomal storage disease: next-generation treatment. (22794786)
2012
33
The preparation and storage of dried-blood spot quality control materials for lysosomal storage disease screening tests. (21382365)
2011
34
Invertebrate models of lysosomal storage disease: what have we learned so far? (22038288)
2011
35
Novel patient cell-based HTS assay for identification of small molecules for a lysosomal storage disease. (22216298)
2011
36
Niemann-Pick C disease: not your average lysosomal storage disease. (21205672)
2011
37
Digital microfluidic platform for multiplexing enzyme assays: implications for lysosomal storage disease screening in newborns. (21859904)
2011
38
Combination therapies for lysosomal storage disease: is the whole greater than the sum of its parts? (21421999)
2011
39
Severe lysosomal storage disease of liver in del(1)(p36): a new presentation. (21145995)
2011
40
Biotherapeutic target or sink: analysis of the macrophage mannose receptor tissue distribution in murine models of lysosomal storage diseases. (21416197)
2011
41
New strategies for enzyme replacement therapy for lysosomal storage diseases. (20345279)
2010
42
Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6. (20020536)
2010
43
Lysosomal storage disease: revealing lysosomal function and physiology. (20430954)
2010
44
Glial fibrillary acidic protein is elevated in the lysosomal storage disease classical late-infantile neuronal ceroid lipofuscinosis, but is not a component of the storage material. (20370715)
2010
45
Lysosomal storage disease in two presumed-related springboks (Antidorcas marsupialis). (20722261)
2010
46
Bilateral hip replacement in three patients with lysosomal storage disease: Mucopolysaccharidosis type IV and Mucolipidosis type III. (20130326)
2010
47
Mucopolysaccharidosis IIIB, a lysosomal storage disease, triggers a pathogenic CNS autoimmune response. (20637096)
2010
48
Spontaneous lysosomal storage disease caused by Sida carpinifolia (Malvaceae) poisoning in cattle. (19261649)
2009
49
Lysosomal storage disease. (20795466)
2009
50
Improved metabolic correction in patients with lysosomal storage disease treated with hematopoietic stem cell transplant compared with enzyme replacement therapy. (19324223)
2009

Variations for Lysosomal Storage Disease

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Expression for genes affiliated with Lysosomal Storage Disease

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Search GEO for disease gene expression data for Lysosomal Storage Disease.

Pathways for genes affiliated with Lysosomal Storage Disease

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GO Terms for genes affiliated with Lysosomal Storage Disease

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

idNameGO IDScoreTop Affiliating Genes
1azurophil granuleGO:004258210.8HEXA, HEXB
2intracellular membrane-bounded organelleGO:004323110.0CTNS, CTSA, GUSB, MANBA, NEU1
3lysosomal membraneGO:00057659.8CLN3, CTNS, CTSA, GBA, HGSNAT, NEU1
4extracellular exosomeGO:00700628.0AGA, ARSA, ARSB, CTNS, CTSA, FUCA1
5lysosomal lumenGO:00432027.9ARSA, ARSB, CTSA, FUCA1, GBA, GUSB
6lysosomeGO:00057647.5AGA, ARSA, ARSB, CLN3, CTNS, CTSA

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1ganglioside catabolic processGO:000668910.7HEXB, NEU1
2keratan sulfate catabolic processGO:004234010.6HEXA, HEXB
3lysosomal transportGO:000704110.6ARSB, HGSNAT
4post-translational protein modificationGO:004368710.6ARSA, ARSB
5protein deglycosylationGO:000651710.5AGA, MAN2B1
6central nervous system developmentGO:000741710.5ARSA, ARSB, TPP1
7hyaluronan catabolic processGO:003021410.5GUSB, HEXA, HEXB
8neuromuscular process controlling balanceGO:005088510.3CLN3, HEXB, TPP1
9response to methylmercuryGO:005159710.3ARSA, ARSB
10carbohydrate metabolic processGO:000597510.3GBA, GUSB, HEXA, MANBA
11response to estrogenGO:004362710.3ARSA, ARSB, GBA
12chondroitin sulfate catabolic processGO:003020710.1ARSB, HEXA, HEXB, IDS, IDUA
13lysosome organizationGO:000704010.0ARSB, CLN3, HEXB, NAGLU, TPP1
14oligosaccharide catabolic processGO:00093139.9HEXB, MAN2B1, MANBA, NEU1
15response to pHGO:00092689.9ARSA, ARSB, GBA
16glycosaminoglycan catabolic processGO:00060279.8FUCA1, GUSB, HGSNAT, IDS, IDUA, NAGLU
17glycosphingolipid metabolic processGO:00066879.6ARSA, ARSB, CTSA, GBA, HEXA, HEXB

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

idNameGO IDScoreTop Affiliating Genes
1arylsulfatase activityGO:000406510.8ARSA, ARSB
2exo-alpha-sialidase activityGO:000430810.8CTSA, NEU1
3acetylglucosaminyltransferase activityGO:000837510.7HEXA, HEXB
4beta-N-acetylhexosaminidase activityGO:000456310.7HEXA, HEXB
5hydrolase activityGO:001678710.2GBA, GUSB, HEXB
6sulfuric ester hydrolase activityGO:00084849.9ARSA, ARSB, SGSH

Sources for Lysosomal Storage Disease

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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