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 mannosidosis. An important gene associated with Lysosomal Storage Disease is AGA (Aspartylglucosaminidase), and among its related pathways are Other glycan degradation and Glycosaminoglycan degradation. Affiliated tissues include brain, bone and bone marrow, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

Wikipedia:71 Lysosomal storage diseases (LSDs; /ˌlaɪsəˈsoʊməl/) are a group of approximately 50... 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 108)
idRelated DiseaseScoreTop Affiliating Genes
1fucosidosis33.0AGA, FUCA1, GAA, HEXA
2mannosidosis27.7AGA, ARSA, ARSB, CLN3, FUCA1, GAA
3galactosialidosis11.4
4aspartylglucosaminuria11.3
5cystinosis11.3
6mucopolysaccharidosis vii11.3
7mucopolysaccharidosis11.2
8mannosidosis, beta11.1
9mannosidosis, alpha-, types i and ii11.1
10gm1-gangliosidosis, type i11.0
11mucopolysaccharidosis type iiic11.0
12mucopolysaccharidosis type iiid11.0
13mucopolysaccharidosis iva11.0
14mucopolysaccharidisis type iiia11.0
15glycoproteinosis11.0
16ceroid lipofuscinosis, neuronal, 110.8
17pycnodysostosis10.8
18gaucher disease, type i10.8
19gm1-gangliosidosis, type ii10.8
20mucopolysaccharidosis type ivb10.8
21mucopolysaccharidosis type ix10.8
22mucopolysaccharidosis ih10.8
23mucopolysaccharidosis is10.8
24mucopolysaccharidosis ih/s10.8
25ceroid lipofuscinosis, neuronal, 710.8
26mucopolysaccharidosis type vi10.8
27sandhoff disease, infantile, juvenile, and adult forms10.8
28gm2-gangliosidosis, ab variant10.8
29sialidosis, type i10.8
30ceroid lipofuscinosis, neuronal, 810.8
31farber lipogranulomatosis10.8
32sialuria10.8
33ceroid lipofuscinosis, neuronal, 1010.8
34ceroid lipofuscinosis, neuronal, 210.8
35ceroid lipofuscinosis, neuronal, 510.8
36ceroid lipofuscinosis, neuronal, 610.8
37ceroid lipofuscinosis, neuronal, kufs type, adult onset10.8
38tay-sachs disease10.8
39ceroid lipofuscinosis, neuronal, 310.8
40cystinosis, nephropathic10.8
41cystinosis, late-onset juvenile or adolescent nephropathic10.8
42mucopolysaccharidosis type iiib10.8
43ceroid lipofuscinosis, neuronal, 1110.8
44glycogen storage disease ii10.8
45ceroid lipofuscinosis, neuronal, 4, parry type10.8
46metachromatic leukodystrophy10.8
47fabry disease10.8
48mucopolysaccharidosis ii10.8
49ceroid lipofuscinosis, neuronal, 13, kufs type10.8
50cystinosis, ocular nonnephropathic10.8

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 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.6ARSA, ARSB, GUSB, HEXA, IDUA, NAGLU
2MP:00053719.4ARSB, GALC, GUSB, HEXA, IDS, IDUA
3MP:00053829.0ARSB, GALC, GUSB, HEXA, IDS, IDUA
4MP:00107718.5AGA, GBA, GUSB, IDS, IDUA, MCOLN1
5MP:00053698.4ARSB, GAA, GALC, GLA, IDUA, MCOLN1
6MP:00053858.3ARSB, GAA, GALC, GBA, GLA, IDUA
7MP:00053908.1ARSB, GAA, GALC, GBA, GUSB, HEXA
8MP:00053918.0ARSB, CLN3, GALC, GLA, HEXA, IDS
9MP:00053877.8ARSA, CLN3, GALC, GBA, GLA, IDS
10MP:00053677.8AGA, ARSB, CLN3, GALC, GLA, GUSB
11MP:00053847.7AGA, ARSB, CLN3, GAA, GALC, GBA
12MP:00053707.6AGA, CLN3, GALC, GBA, GLA, HEXA
13MP:00053977.6ARSA, ARSB, CLN3, GALC, GBA, GUSB
14MP:00107687.3AGA, CLN3, GALC, GBA, GLA, GUSB
15MP:00053767.1AGA, ARSA, ARSB, CLN3, GAA, GALC
16MP:00053787.1AGA, ARSB, GAA, GALC, GBA, GLA
17MP:00036316.8AGA, ARSA, ARSB, CLN3, GALC, GBA
18MP:00053866.8AGA, ARSA, ARSB, CLN3, GAA, GALC

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 213)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Cyclophosphamideapproved, investigationalPhase 4, Phase 2, Phase 3293550-18-0, 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 415511959-05-2, 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 2, Phase 11692174722-31-710201696
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
Acetylcysteineapproved, investigationalPhase 4, Phase 1, Phase 2330616-91-112035
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-acetylcysteine
L-α-acetamido-β-mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetyl-L-(+)-cysteine
N-acetyl-L-cysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
7
Coal tarapprovedPhase 42028007-45-2
Synonyms:
 
Coal tars
Tar, coal
8
Bortezomibapproved, investigationalPhase 4807179324-69-7387447, 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
9
Folic Acidapproved, nutraceutical, vet_approvedPhase 4, Phase 1, Phase 2439259-30-36037
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
leucovorinapproved, NutraceuticalPhase 4, Phase 1, Phase 2323558-05-954575, 6560146, 143
Synonyms:
(5-formyl-5,6,7,8-tetrahydropteroyl)glutamate
(6R,S)-5-Formyltetrahydrofolate
10-Formyl-7,8-dihydrofolate
10-Formyl-7,8-dihydrofolic acid
5-Formyl-5,6,7,8-tetrahydrofolate
5-Formyl-5,6,7,8-tetrahydrofolic acid
5-Formyl-5,6,7,8-tetrahydropteroyl-L-glutamic acid
5-Formyltetrahydrofolate
5-Formyltetrahydrofolic acid
5-Formyltetrahydropteroylglutamate
5-Formyltetrahydropteroylglutamic acid
5-formyltetrahydrofolic acid
Acide folinique
Calcium citrovorum factor
Calcium folinate
Citrovorum factor
Folinate
Folinic acid
Folinic acid calcium salt
 
Folinic acid calcium salt USP27
Folinic acid-SF
L(-)-5-Formyl-5,6,7,8-tetrahydrofolic acid
L-Leucovorin
L-N-[p-[[(2-Amino-5-formyl-5,6,7,8-tetrahydro-4-hydroxy-6-pteridinyl)methyl]amino]benzoyl]-Glutamic acid
L-leucovorin
Leucal
Leucovorin calcium
Leucovorin folinic acid
Leucovorinum
Leukovorin
Levoleucovorin
N-(5-formyl-5,6,7,8-tetrahydropteroyl)-L-glutamic acid
N5-Formyl-5,6,7,8-tetrahydrofolate
N5-Formyl-5,6,7,8-tetrahydrofolic acid
N5-Formyl-THF
N5-Formyltetrahydrofolate
N5-Formyltetrahydrofolic acid
Welcovorin
Wellcovorin
folinate
11
Alfacalcidolapproved, nutraceuticalPhase 46141294-56-85282181
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
12
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
13Immunosuppressive AgentsPhase 4, Phase 2, Phase 3, Phase 113086
14VitaminsPhase 4, Phase 25282
15Bronchodilator AgentsPhase 4, Phase 1, Phase 22965
16AntibodiesPhase 4, Phase 1, Phase 2, Early Phase 16394
17Peripheral Nervous System AgentsPhase 4, Phase 2, Phase 1, Early Phase 123689
18Tocolytic AgentsPhase 4, Phase 1, Phase 2739
19Alkylating AgentsPhase 4, Phase 2, Phase 34827
20Neurotransmitter AgentsPhase 4, Phase 2, Phase 1, Early Phase 118340
21ImmunoglobulinsPhase 4, Phase 1, Phase 2, Early Phase 16394
22Antineoplastic Agents, AlkylatingPhase 4, Phase 2, Phase 34603
23Anti-Retroviral AgentsPhase 4, Phase 3, Phase 2, Phase 13296
24Bone Density Conservation AgentsPhase 4, Phase 23376
25Anti-HIV AgentsPhase 4, Phase 3, Phase 2, Phase 13162
26Cardiac GlycosidesPhase 4, Phase 3, Phase 2, Phase 1148
27Glycoside Hydrolase InhibitorsPhase 4, Phase 3, Phase 2, Phase 1128
28MicronutrientsPhase 4, Phase 26001
29Autonomic AgentsPhase 4, Phase 2, Phase 110150
30Trace ElementsPhase 4, Phase 26001
31vitamin dPhase 4, Phase 21724
32Adrenergic AgonistsPhase 4, Phase 1, Phase 23027
33N-monoacetylcystinePhase 4, Phase 1, Phase 2330
34Protective AgentsPhase 4, Phase 1, Phase 27443
35Respiratory System AgentsPhase 4, Phase 1, Phase 24997
36AntimetabolitesPhase 4, Phase 2, Phase 112054
37ExpectorantsPhase 4, Phase 1, Phase 2404
38Pharmaceutical SolutionsPhase 4, Phase 2, Phase 3, Phase 18192
39AntidotesPhase 4, Phase 1, Phase 21071
40Anti-Infective AgentsPhase 4, Phase 3, Phase 2, Phase 122062
41AntioxidantsPhase 4, Phase 1, Phase 23050
42Antiviral AgentsPhase 4, Phase 3, Phase 2, Phase 19967
43Antimetabolites, AntineoplasticPhase 4, Phase 2, Phase 17361
44Antirheumatic AgentsPhase 4, Phase 2, Phase 3, Phase 110956
45Adrenergic AgentsPhase 4, Phase 2, Phase 15352
46Adrenergic beta-2 Receptor AgonistsPhase 4, Phase 1, Phase 2957
47Adrenergic beta-AgonistsPhase 4, Phase 1, Phase 21714
48AlbuterolPhase 4, Phase 1, Phase 2429
49Hypoglycemic AgentsPhase 4, Phase 3, Phase 2, Phase 15896
50Vitamin B ComplexPhase 4, Phase 1, Phase 24337

Interventional clinical trials:

(show top 50)    (show all 543)
idNameStatusNCT IDPhase
1Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry DiseaseUnknown statusNCT00487630Phase 4
2CPAP for Infantile Pompe DiseaseUnknown statusNCT02405624Phase 4
3Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase TherapyCompletedNCT00607386Phase 4
4Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher DiseaseCompletedNCT00364858Phase 4
5Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase AlfaCompletedNCT01288027Phase 4
6N Acetyl Cysteine for Cystinosis PatientsCompletedNCT01614431Phase 4
7An 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
8High Dose or High Dose Frequency Study of Alglucosidase AlfaCompletedNCT00483379Phase 4
9Late-Onset Treatment Study Extension ProtocolCompletedNCT00455195Phase 4
10Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients.CompletedNCT01997489Phase 4
11Evaluation of Salbutamol as an Adjuvant Therapy for Pompe DiseaseCompletedNCT02405598Phase 4
12Replagal Enzyme Replacement Therapy for Adults With Fabry DiseaseCompletedNCT00097890Phase 4
13A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry DiseaseCompletedNCT00140621Phase 4
14A Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher DiseaseCompletedNCT01132690Phase 4
15A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry DiseaseCompletedNCT00081497Phase 4
16A Study of the Safety and Efficacy of Fabrazyme (Agalsidase Beta) as Compared to Placebo in Patients With Advanced Fabry DiseaseCompletedNCT00074984Phase 4
17A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease.CompletedNCT00365131Phase 4
18A Long Term Safety and Efficacy Study of Fabrazyme Replacement Therapy in Japanese Patients With Fabry Disease.CompletedNCT00233870Phase 4
19A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase BetaCompletedNCT01650779Phase 4
20A Dose-optimization Study of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I (MPS I) DiseaseCompletedNCT00144781Phase 4
21A Phase 4 Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With MPS VICompletedNCT00299000Phase 4
22A Study Investigating the Relationship Between the Development of Laronidase Antibody and Urinary GAG (Glycosaminoglycan) Levels in Aldurazyme® Treated PatientsCompletedNCT00144768Phase 4
23A Study of the Effects of Fabrazyme (Agalsidase Beta) on Mother's Lactation and on the Growth, Development and Immunologic Response of Their InfantsRecruitingNCT00230607Phase 4
24Use of Cysteamine in the Treatment of CystinosisRecruitingNCT00359684Phase 4
25Pompe Lactation Sub-RegistryRecruitingNCT00566878Phase 4
26Pompe Pregnancy Sub-RegistryRecruitingNCT00567073Phase 4
27Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe DiseaseRecruitingNCT01410890Phase 4
28Immune Tolerance Induction StudyRecruitingNCT00701701Phase 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
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
37Pharmacokinetics, Pharmacodynamics And Safety Study Of Elelyso(tm) In Pediatric Subjects With Type 1 Gaucher DiseaseNot yet recruitingNCT03021941Phase 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
42Hematopoietic Stem Cell Transplantation for MucopolysaccharidosisUnknown statusNCT01238328Phase 2, Phase 3
43BMN 110 Phase 3B in Australian PatientsUnknown statusNCT01966029Phase 3
44Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving IdursulfaseCompletedNCT00630747Phase 2, Phase 3
45A Phase III Trial to Assess the Safety and Efficacy of Plant Cell Expressed GCD in Patients With Gaucher DiseaseCompletedNCT00376168Phase 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
50Open-Label Phase 3 Long-Term Safety Study of MigalastatCompletedNCT01458119Phase 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

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Anatomical Context for Lysosomal Storage Disease

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MalaCards organs/tissues related to Lysosomal Storage Disease:

36
Brain, Bone, Bone marrow, Liver, Small intestine, Fetal liver, Pituitary

Publications for Lysosomal Storage Disease

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Articles related to Lysosomal Storage Disease:

(show top 50)    (show all 192)
idTitleAuthorsYear
1
The lysosomal storage disease continuum with ageing-related neurodegenerative disease. (27516378)
2016
2
Fusion of lysosomes with secretory organelles leads to uncontrolled exocytosis in the lysosomal storage disease mucolipidosis type IV. (26682800)
2016
3
Low-dose gene therapy reduces the frequency of enzyme replacement therapy in a mouse model of lysosomal storage disease. (27658524)
2016
4
A canine model for neuronal ceroid lipofuscinosis highlights the promise of gene therapy for lysosomal storage diseases. (27867988)
2016
5
Therapy Development for the Lysosomal Storage Disease Fucosidosis using the Canine Animal Model. (27491218)
2016
6
Lysosomal storage disease: gene therapy on both sides of the blood-brain barrier. (25410058)
2015
7
Property of lysosomal storage disease associated with midbrain pathology in the central nervous system of Lamp-2-deficient mice. (25998250)
2015
8
Suspected natural lysosomal storage disease from ingestion of pink morning glory (Ipomoea carnea) in goats in northern Argentina. (25728544)
2015
9
Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease. (26085577)
2015
10
Lysosomal storage disease in the brain: mutations of the I^-mannosidase gene identified in autosomal dominant nystagmus. (25741867)
2015
11
Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis. (25586965)
2015
12
MRI and MRS findings in fucosidosis; a rare lysosomal storage disease. (26515723)
2015
13
Lysosomal storage disease as an etiology of nonimmune hydrops. (25305402)
2015
14
New Players in the Infertility of a Mouse Model of Lysosomal Storage Disease: The Hypothalamus-Pituitary-Gonadal Axis. (24432014)
2014
15
Oligodendrocyte loss during the disease course in a canine model of the lysosomal storage disease fucosidosis. (24806306)
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
Very prolonged liposomal amphotericin B use leading to a lysosomal storage disease. (24787480)
2014
18
LAMP2 as a marker of EBV-mediated B lymphocyte transformation in the study of lysosomal storage diseases. (24068328)
2014
19
Reply-nonimmune hydrops fetalis and lysosomal storage diseases. (24120156)
2013
20
Nonimmune fetal hydrops and lysosomal storage disease: the finding of vacuolated lymphocytes in ascitic fluid in two cases. (24284886)
2013
21
Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations. (24255892)
2013
22
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. (24038957)
2013
23
A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage disease. (23850077)
2013
24
Nonimmune hydrops fetalis and lysosomal storage diseases. (24120157)
2013
25
Amyloidosis, Synucleinopathy, and Prion Encephalopathy in a Neuropathic Lysosomal Storage Disease: The CNS-Biomarker Potential of Peripheral Blood. (24278249)
2013
26
GM130 gain-of-function induces cell pathology in a model of lysosomal storage disease. (22156940)
2012
27
Production of I+-L-iduronidase in maize for the potential treatment of a human lysosomal storage disease. (22990858)
2012
28
Dysregulation of gene expression in a lysosomal storage disease varies between brain regions implicating unexpected mechanisms of neuropathology. (22403656)
2012
29
Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases. (22991292)
2012
30
High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba. (22911605)
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
Invertebrate models of lysosomal storage disease: what have we learned so far? (22038288)
2011
34
The preparation and storage of dried-blood spot quality control materials for lysosomal storage disease screening tests. (21382365)
2011
35
Combination therapies for lysosomal storage disease: is the whole greater than the sum of its parts? (21421999)
2011
36
Niemann-Pick C disease: not your average lysosomal storage disease. (21205672)
2011
37
Novel patient cell-based HTS assay for identification of small molecules for a lysosomal storage disease. (22216298)
2011
38
Digital microfluidic platform for multiplexing enzyme assays: implications for lysosomal storage disease screening in newborns. (21859904)
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
Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6. (20020536)
2010
42
Mucopolysaccharidosis IIIB, a lysosomal storage disease, triggers a pathogenic CNS autoimmune response. (20637096)
2010
43
Bilateral hip replacement in three patients with lysosomal storage disease: Mucopolysaccharidosis type IV and Mucolipidosis type III. (20130326)
2010
44
New strategies for enzyme replacement therapy for lysosomal storage diseases. (20345279)
2010
45
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
46
Lysosomal storage disease: revealing lysosomal function and physiology. (20430954)
2010
47
Lysosomal storage disease in two presumed-related springboks (Antidorcas marsupialis). (20722261)
2010
48
Mass spectrometry-based protein profiling to determine the cause of lysosomal storage diseases of unknown etiology. (19383612)
2009
49
Improved metabolic correction in patients with lysosomal storage disease treated with hematopoietic stem cell transplant compared with enzyme replacement therapy. (19324223)
2009
50
Exclusion of NEU1 and PPGB from candidate genes for a lysosomal storage disease in Japanese Black cattle. (20163628)
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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Pathways related to Lysosomal Storage Disease according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.5AGA, FUCA1, GBA, HEXA, NEU1
2
Show member pathways
9.0ARSB, GUSB, HEXA, IDS, IDUA, NAGLU
3
Show member pathways
9.0ARSB, GUSB, HEXA, IDS, IDUA, NAGLU
4
Show member pathways
8.8ARSB, GAA, GUSB, HEXA, IDS, IDUA
5
Show member pathways
8.7ARSA, ARSB, GALC, GBA, GLA, HEXA
6
Show member pathways
7.2ARSA, ARSB, GAA, GALC, GBA, GLA
76.3AGA, ARSA, ARSB, CLN3, FUCA1, GAA

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 granule lumenGO:003557810.1AGA, ARSA, ARSB, FUCA1, GLA, GUSB
2lysosomal membraneGO:000576510.1CLN3, GAA, GBA, MCOLN1, NEU1
3extracellular regionGO:00055769.2AGA, ARSA, ARSB, FUCA1, GLA, GUSB
4extracellular exosomeGO:00700627.7AGA, ARSA, ARSB, FUCA1, GAA, GALC
5lysosomal lumenGO:00432027.6ARSA, ARSB, FUCA1, GAA, GALC, GBA
6lysosomeGO:00057646.3AGA, ARSA, ARSB, CLN3, FUCA1, GAA

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1ceramide biosynthetic processGO:004651310.8GBA, SMPD1
2hyaluronan catabolic processGO:003021410.8GUSB, HEXA
3glycoside catabolic processGO:001613910.8FUCA1, GLA
4lysosomal lumen acidificationGO:000704210.7CLN3, PPT1
5positive regulation of protein dephosphorylationGO:003530710.7GBA, SMPD1
6neuromuscular process controlling balanceGO:005088510.6CLN3, GAA, TPP1
7central nervous system developmentGO:000741710.6ARSA, ARSB, TPP1
8lipid catabolic processGO:001604210.4GALC, NEU1, PPT1
9response to methylmercuryGO:005159710.4ARSA, ARSB
10protein catabolic processGO:003016310.4CLN3, PPT1, TPP1
11response to estrogenGO:004362710.3ARSA, ARSB, GBA
12chondroitin sulfate catabolic processGO:003020710.2ARSB, HEXA, IDS, IDUA
13termination of signal transductionGO:002302110.1GBA, SMPD1
14response to pHGO:000926810.1ARSA, ARSB, GBA
15sphingomyelin metabolic processGO:000668410.1CLN3, SMPD1
16glycosaminoglycan catabolic processGO:000602710.0FUCA1, GUSB, IDS, IDUA, NAGLU, SGSH
17lysosome organizationGO:00070409.9ARSB, CLN3, GAA, NAGLU, PPT1, TPP1
18neutrophil degranulationGO:00433129.4AGA, ARSA, ARSB, FUCA1, GAA, GLA
19glycosphingolipid metabolic processGO:00066879.4ARSA, ARSB, GALC, GBA, GLA, HEXA
20carbohydrate metabolic processGO:00059759.3FUCA1, GAA, GALC, GBA, GLA, GUSB
21metabolic processGO:00081528.0ARSA, ARSB, FUCA1, GAA, GALC, GBA

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

idNameGO IDScoreTop Affiliating Genes
1arylsulfatase activityGO:000406510.8ARSA, ARSB
2hydrolase activity, hydrolyzing O-glycosyl compoundsGO:000455310.1GAA, GLA, IDUA
3sulfuric ester hydrolase activityGO:00084849.7ARSA, ARSB, IDS, SGSH
4hydrolase activity, acting on glycosyl bondsGO:00167988.6FUCA1, GAA, GALC, GBA, GLA, GUSB
5hydrolase activityGO:00167877.3AGA, ARSA, ARSB, FUCA1, GAA, GALC

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