CLN3
MCID: CRD186
MIFTS: 52

Ceroid Lipofuscinosis, Neuronal, 3 (CLN3) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 3

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Aliases & Descriptions for Ceroid Lipofuscinosis, Neuronal, 3:

Name: Ceroid Lipofuscinosis, Neuronal, 3 52 70 12
Juvenile Neuronal Ceroid Lipofuscinosis 11 48 25 54 70 27 68
Batten Disease 11 49 54 70 50 13
Neuronal Ceroid Lipofuscinosis 3 11 48 24
Cln3 Disease 24 25 54
Cln3-Related Neuronal Ceroid-Lipofuscinosis 24 25
Spielmeyer-Vogt Disease 25 54
Jncl 54 70
Cln3 11 70
Juvenile Cerebroretinal Degeneration 25
 
Batten-Spielmeyer-Vogt Disease 25
Spielmeyer-Sjogren Disease 70
Spielmeyer Sjogren Disease 48
Vogt Spielmeyer Disease 48
Vogt-Spielmeyer Disease 70
Juvenile Batten Disease 25
Cln3 Disease, Juvenile 48
Batten-Mayou Disease 25
Spielmeyer-Sjögren 24
Juvenile Ncl 54

Characteristics:

Orphanet epidemiological data:

54
juvenile neuronal ceroid lipofuscinosis:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Sweden),1-9/100000 (Sweden),1-9/100000 (Finland),1-9/1000000 (Norway),1-9/100000 (Norway),1-9/100000 (Iceland),1-9/1000000 (Denmark),1-9/100000 (Denmark); Age of onset: Childhood; Age of death: young Adult
cln3 disease:
Inheritance: Autosomal recessive; Age of onset: Childhood

HPO:

64
ceroid lipofuscinosis, neuronal, 3:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 204200
Disease Ontology11 DOID:0050756, DOID:0110731
ICD1030 E75.4
ICD10 via Orphanet31 E75.4
MeSH39 D009472

Summaries for Ceroid Lipofuscinosis, Neuronal, 3

About this section
OMIM:52 The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative... (204200) more...

MalaCards based summary: Ceroid Lipofuscinosis, Neuronal, 3, also known as juvenile neuronal ceroid lipofuscinosis, is related to neuronal ceroid lipofuscinosis and neuronal ceroid-lipofuscinoses, and has symptoms including myoclonus, myoclonus and seizures. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 3 is CLN3 (CLN3, Battenin), and among its related pathways is Lysosome. Affiliated tissues include eye, skin and heart, and related mouse phenotypes are nervous system and vision/eye.

Disease Ontology:11 A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has material basis in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11.

Genetics Home Reference:25 CLN3 disease is an inherited disorder that primarily affects the nervous system. After 4 to 6 years of normal development, children with this condition develop vision impairment, intellectual disability, movement problems, speech difficulties, and seizures, which worsen over time.

NIH Rare Diseases:48 Neuronal ceroid lipofuscinosis 3 (cln3-ncl) is a rare condition that affects the nervous system. signs and symptoms generally develop between age 4 and 8 years, although later onset cases have been reported. affected people may experience rapidly progressive vision loss, developmental regression (loss of acquired milestones), cognitive decline, heart problems, seizures, speech disturbances, behavioral problems (including aggression), and movement abnormalities. life expectancy generally ranges from the late teens to the 30's. cln3-ncl is caused by changes (mutations) in the cln3 gene and is inherited in an autosomal recessive manner. treatment options are limited to therapies that can help relieve some of the symptoms. last updated: 9/1/2015

NINDS:49 Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Symptoms of Batten disease are linked to a buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. Because vision loss is often an early sign, Batten disease may be first suspected during an eye exam. Often, an eye specialist or other physician may refer the child to a neurologist. Diagnostic tests for Batten disease include blood or urine tests, skin or tissue sampling, an electroencephalogram (EEG), electrical studies of the eyes, and brain scans.

UniProtKB/Swiss-Prot:70 Ceroid lipofuscinosis, neuronal, 3: A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a fingerprint profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane- bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with neuronal ceroid lipofuscinosis type 3.

Related Diseases for Ceroid Lipofuscinosis, Neuronal, 3

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Diseases in the Neuronal Ceroid Lipofuscinosis family:

Ceroid Lipofuscinosis, Neuronal, 1 Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 8 Ceroid Lipofuscinosis, Neuronal, 10
Ceroid Lipofuscinosis, Neuronal, 2 Ceroid Lipofuscinosis, Neuronal, 5
Ceroid Lipofuscinosis, Neuronal, 6 ceroid lipofuscinosis, neuronal, 3
Ceroid Lipofuscinosis, Neuronal, 11 Ceroid Lipofuscinosis, Neuronal, 9
Neuronal Ceroid Lipofuscinosis 4a Adult Neuronal Ceroid Lipofuscinosis

Diseases related to Ceroid Lipofuscinosis, Neuronal, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
idRelated DiseaseScoreTop Affiliating Genes
1neuronal ceroid lipofuscinosis11.8
2neuronal ceroid-lipofuscinoses11.4
3ceroid lipofuscinosis, neuronal, 110.8
4ceroid lipofuscinosis, neuronal, 210.8
5agenesis of the dorsal pancreas10.2PPT1, TPP1
63-hydroxyacyl-coa dehydrogenase deficiency10.1CLN3, PPT1
7posterior uveal melanoma10.1CLN3, PPT1, TPP1
8mannosidosis10.1CLN3, PPT1, TPP1
9deafness and myopia10.1CLN5, CLN6
10microcephaly 9, primary, autosomal recessive10.1CLN5, CLN6
11cutaneous lupus erythematosus10.0SULT1A1, SULT1A3
12neuronitis10.0
13blessig's cysts10.0CLN3, CLN5
14dementia - subcortical10.0CLN5, CLN6, PPT1
15glomerulosclerosis, focal segmental, 210.0CLN6, CLN8
16glans penis cancer9.9CLN6, CLN8
17mitochondrial myopathy with diabetes9.9CLN5, CLN6, CLN8
18myopia 109.9CLN5, CLN6, CLN8
19urinary schistosomiasis9.9CLN5, CLN6, CLN8
20fibroblastic liposarcoma9.9CLN6, CLN8
21deafness, autosomal recessive 269.8CLN5, CLN6, CLN8, PPT1
22mononeuritis of lower limb9.7CLN3, CLN5, CLN6, PPT1, TPP1
23wilms tumor 29.6CLN3, CLN5, CLN6, CLN8, CTSD
24bleeding disorder, platelet-type, 16, autosomal dominant9.5CLN3, CLN5, CLN6, CLN8, CTSD, PPT1
25medulloblastoma9.4CLN3, CLN5, CLN6, CLN8, CTSD, PPT1
26transaldolase deficiency9.4CLN3, CLN5, CLN6, CLN8, CTSD, PPT1
27peyronie's disease9.1BAMBI, CLN3, CLN5, CLN6, CLN8, CTSD
28partial arterial retinal occlusion9.1BAMBI, CLN3, CLN5, CLN6, CLN8, CTSD
29brody myopathy8.6BAMBI, CLN3, CLN5, CLN6, CLN8, CTSD

Graphical network of the top 20 diseases related to Ceroid Lipofuscinosis, Neuronal, 3:



Diseases related to ceroid lipofuscinosis, neuronal, 3

Symptoms & Phenotypes for Ceroid Lipofuscinosis, Neuronal, 3

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Symptoms by clinical synopsis from OMIM:

204200

Clinical features from OMIM:

204200

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 3:

 54 64 (show all 38)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 retinopathy64 54 Very frequent (99-80%) HP:0000488
2 visual impairment54 Very frequent (99-80%)
3 abnormal electroretinogram64 54 Very frequent (99-80%) HP:0000512
4 blindness64 54 Very frequent (99-80%) HP:0000618
5 abnormality of visual evoked potentials64 54 Very frequent (99-80%) HP:0000649
6 behavioral abnormality64 54 Very frequent (99-80%) HP:0000708
7 dementia64 54 Very frequent (99-80%) HP:0000726
8 ataxia64 54 Very frequent (99-80%) HP:0001251
9 mental deterioration54 Very frequent (99-80%)
10 generalized tonic-clonic seizures64 54 Very frequent (99-80%) HP:0002069
11 abnormality of extrapyramidal motor function64 54 Very frequent (99-80%) HP:0002071
12 neurological speech impairment64 54 Very frequent (99-80%) HP:0002167
13 motor deterioration64 54 Very frequent (99-80%) HP:0002333
14 eeg abnormality64 54 Very frequent (99-80%) HP:0002353
15 abnormal pyramidal signs64 54 Very frequent (99-80%) HP:0007256
16 focal seizures64 54 Very frequent (99-80%) HP:0007359
17 iris hypopigmentation64 54 Very frequent (99-80%) HP:0007730
18 rod-cone dystrophy64 HP:0000510
19 progressive visual loss64 HP:0000529
20 undetectable electroretinogram64 HP:0000550
21 macular degeneration64 HP:0000608
22 optic atrophy64 HP:0000648
23 psychosis64 HP:0000709
24 anxiety64 HP:0000739
25 intellectual disability64 HP:0001249
26 seizures64 HP:0001250
27 dysarthria64 HP:0001260
28 parkinsonism64 HP:0001300
29 abnormality of the cerebellum64 HP:0001317
30 myoclonus64 HP:0001336
31 vacuolated lymphocytes64 HP:0001922
32 cerebral atrophy64 HP:0002059
33 increased neuronal autofluorescent lipopigment64 HP:0002074
34 psychomotor deterioration64 HP:0002361
35 progressive inability to walk64 HP:0002505
36 curvilinear intracellular accumulation of autofluorescent lipopigment storage material64 HP:0003205
37 fingerprint intracellular accumulation of autofluorescent lipopigment storage material64 HP:0003208
38 increased extraneuronal autofluorescent lipopigment64 HP:0003463

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 3:


myoclonus, seizures, abnormality of extrapyramidal motor function

MGI Mouse Phenotypes related to Ceroid Lipofuscinosis, Neuronal, 3 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.4CLN3, CLN5, CLN6, CLN8, CTSD, PPT1
2MP:00053918.0CLN3, CLN5, CLN6, CLN8, CTSD, PPT1
3MP:00053868.0BAMBI, CLN3, CLN6, CLN8, CTSD, PPT1

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 3

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Drugs for Ceroid Lipofuscinosis, Neuronal, 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Cysteamineapproved, investigationalPhase 42760-23-16058
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
2
Acetylcysteineapproved, investigationalPhase 4330616-91-112035
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
3N-monoacetylcystinePhase 4330
4Protective AgentsPhase 47443
5Respiratory System AgentsPhase 44997
6ExpectorantsPhase 4404
7Antiviral AgentsPhase 49967
8Anti-Infective AgentsPhase 422062
9AntidotesPhase 41071
10AntioxidantsPhase 43050
11
Cyclophosphamideapproved, investigationalPhase 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
12
Prednisoloneapproved, vet_approvedPhase 2, Phase 3119350-24-85755
Synonyms:
(11beta)-11,17,21-Trihydroxypregna-1,4-diene-3,20-dione
.DELTA.1-Cortisol
.DELTA.1-Dehydrocortisol
.DELTA.1-Dehydrohydrocortisone
.DELTA.1-Hydrocortisone
.delta.-Cortef
.delta.-Stab
1,2-Dehydrohydrocortisone
1,4-Pregnadiene-11beta,17alpha,21-triol-3,20-dione
1,4-Pregnadiene-3,20-dione-11beta,17alpha,21-triol
1-Dehydrocortisol
1-Dehydrohydrocortisone
3,20-dioxo-11beta,17alpha,21-Trihydroxy-1,4-pregnadiene
46656_FLUKA
46656_RIEDEL
50-24-8
58201-11-9
8056-11-9
AC-1773
AC1L1L2E
Ak-Pred
Ak-Tate
Alphadrol
Articulose-50
BPBio1_000164
BRD-K98039984-001-03-0
BRN 1354103
BSPBio_000148
Bio-0666
Bubbli-Pred
C07369
CCRIS 980
CHEBI:8378
CHEMBL131
CID5755
CO-Hydeltra
CPD000718761
Co-Hydeltra
Codelcortone
Cordrol
Cortalone
Cotogesic
Cotolone
D00472
D011239
DB00860
Decaprednil
Decortin H
Delcortol
Delta F
Delta(1)-dehydrohydrocortisone
Delta-Cortef
Delta-Cortef (TN)
Delta-Ef-Cortelan
Delta-Stab
Delta-stab
Deltacortenol
Deltacortril
Deltacortril Enteric
Deltahydrocortisone
Deltasolone
Deltisilone
Depo-Medrol
Derpo PD
Derpo Pd
Dexa-Cortidelt Hostacortin H
Dexa-Cortidelt hostacortin H
Di Adreson F
Di-Adreson F
Di-Adreson-F
Di-adreson F
DiAdresonF
Dicortol
Donisolone
Dydeltrone
EINECS 200-021-7
Eazolin D
Econopred
Econopred Plus
Erbacort
Erbasona
Estilsona
Fernisolone
Fernisolone P
Fernisolone-P
Flamasone
HMS1568H10
HMS2090J05
HSDB 3385
Hostacortin H
Hydeltra
Hydeltra-Tba
Hydeltrasol
Hydeltrone
Hydrodeltalone
Hydrodeltisone
Hydroretrocortin
Hydroretrocortine
I-Pred
Inflamase Forte
Inflamase Mild
K 1557
Key-Pred
Klismacort
LMST02030179
LS-7669
Lentosone
Lite Pred
M-Predrol
 
MLS001304083
MLS002154250
MLS002207037
Medrol
Medrol Acetate
Metacortandralone
Methylprednisolone Acetate
Meti-Derm
Meticortelone
Metreton
MolPort-002-507-147
NCGC00179649-01
NSC 9120
NSC9120
NSC9900
Neo-Delta-Cortef
Nisolone
Nor-Pred T.B.A.
Ocu-Pred
Ocu-Pred Forte
Ophtho-Tate
Orapred
P0152_SIGMA
P0637
P6004_SIGMA
PRDL
PRED-G
Panafcortelone
Paracortol
Paracotol
Pediapred
Poly-Pred
Precortalon
Precortancyl
Precortilon
Precortisyl
Pred Forte
Pred Mild
Predair
Predair A
Predair Forte
Predalone 50
Predalone T.B.A.
Predate
Predate Tba
Predate-50
Predcor-25
Predcor-50
Predcor-Tba
Predisolone Sodium Phosphate
Predne-Dome
Prednelan
Predni-Dome
Prednicen
Predniliderm
Predniretard
Prednis
Prednisolona
Prednisolona [INN-Spanish]
Prednisolone (JP15/USP/INN)
Prednisolone (anhydrous)
Prednisolone Acetate
Prednisolone Sodium Phosphate
Prednisolone Tebutate
Prednisolone [INN:BAN:JAN]
Prednisolonum
Prednisolonum [INN-Latin]
Predonin
Predonine
Prelone
Prenolone
Prestwick0_000274
Prestwick1_000274
Prestwick2_000274
Prestwick3_000274
Prestwick_404
Rolisone
S1737_Selleck
SAM002264639
SMR000718761
SPBio_002367
Scherisolon
Solone
Steran
Sterane
Sterolone
Supercortisol
UNII-9PHQ9Y1OLM
Ulacort
Ultra Pred
Ultracorten H
Ultracortene H
Ultracortene-H
Ultracortene-Hydrogen
Ultracortene-hydrogen
ZINC03833821
component of Ataraxoid
component of K-Predne-Dome
delta(1)-Cortisol
delta(1)-Dehydrocortisol
delta(1)-Dehydrohydrocortisone
delta(1)-Hydrocortisone
delta(sup 1)-Cortisol
delta(sup 1)-Dehydrocortisol
delta(sup 1)-Dehydrohydrocortisone
delta(sup 1)-Hydrocortisone
delta-dehydrocortisol
delta-dehydrohydrocortisone
delta-hydrocortisone
prednisolone
13
Methylprednisoloneapproved, vet_approvedPhase 2, Phase 3119383-43-26741
Synonyms:
(6S,8S,9S,10R,11S,13S,14S,17R)-11,17-dihydroxy-17-(2-hydroxyacetyl)-6,10,13-trimethyl-7,8,9,11,12,14,15,16-octahydro-6H-cyclopenta[a]phenanthren-3-one
(6a,11b)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6alpha,11beta)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6α,11β)-11,17,21-trihydroxy-6-methylpregna-1,4-diene-3,20-dione
.DELTA.1-6.alpha.-Methylhydrocortisone
1-Dehydro-6alpha-methylhydrocortisone
1-dehydro-6alpha-Methylhydrocortisone
1-dehydro-6α-methylhydrocortisone
11-beta,17,21-Trihydroxy-6-alpha-methylpregna-1,4-diene-3,20-dione
11beta,17,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methyl-1,4-pregnadiene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
121673-01-6
4-08-00-03498 (Beilstein Handbook Reference)
46436_FLUKA
46436_RIEDEL
570-35-4
6 Methylprednisolone
6-Methylprednisolone
6-alpha-Methylprednisolone
6.alpha.-Methylprednisolone
6923-42-8
6alpha-Methyl-11beta,17alpha,21-trihydroxy-1,4-pregnadiene-3,20-dione
6alpha-Methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
6alpha-Methylprednisolone
6alpha-methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
83-43-2
AC1L1N7A
Artisone-Wyeth
Artisone-wyeth
BPBio1_000174
BRD-K35240538-001-03-1
BRN 2340300
BSPBio_000158
Besonia
Bio-0658
CHEBI:6888
CHEMBL650
CID6741
CPD000058330
D00407
D008775
DB00959
Depo-Medrol (acetate)
Dopomedrol
EINECS 201-476-4
Esametone
Firmacort
HMS1568H20
HMS2090B13
HSDB 3127
LMST02030178
LS-118498
Lemod
M0639_SIGMA
M1665
MEPRDL
MLS000028541
MLS001148159
MLS002207191
Medesone
Medixon
Medlone 21
 
Medrate
Medrol
Medrol (TN)
Medrol Adt Pak
Medrol Dosepak
Medrol adt pak
Medrol dosepak
Medrol, Solu-Medrol, Medrone, Methylprednisolone
Medrone
Mesopren
Metastab
Methyleneprednisolone
Methylprednisolon
Methylprednisolone
Methylprednisolone (JP15/USP/INN)
Methylprednisolone [USAN:INN:BAN:JAN]
Methylprednisolone, 6-alpha
Methylprednisolonum
Methylprednisolonum [INN-Latin]
Metilbetasone
Metilprednisolona
Metilprednisolona [INN-Spanish]
Metilprednisolone
Metilprednisolone [DCIT]
Metilprednisolone [Dcit]
Metipred
Metrisone
Metrocort
Metysolon
Moderin
MolPort-002-528-554
NCGC00022735-03
NCI60_001657
NSC-19987
NSC19987
Nirypan
Noretona
Predni N Tablinen
Prednol- L
Pregna-1,4-diene-3,20-dione, 11beta,17,21-trihydroxy-6alpha-methyl- (8CI)
Prestwick0_000279
Prestwick1_000279
Prestwick2_000279
Prestwick3_000279
Prestwick_622
Promacortine
Reactenol
S1733_Selleck
SAM002589984
SMR000058330
SPBio_002377
Sieropresol
Solomet
Summicort
Suprametil
U 7532
UNII-X4W7ZR7023
Urbason
Urbasone
Wyacort
ZINC03875560
delta(1)-6alpha-Methylhydrocortisone
delta(sup 1)-6-alpha-Methylhydrocortisone
methylprednisolone
methylprenisolone
14
Busulfanapproved, investigationalPhase 2, Phase 354555-98-12478
Synonyms:
1, 4-Dimethanesulfonoxybutane
1, 4-Dimethylsulfonoxybutane
1, {4-Bis[methanesulfonoxy]butane}
1,4-BUTANEDIOL DIMETHANESULFONATE
1,4-Bis(methanesulfonoxy)butane
1,4-Bis(methanesulfonyloxy)butane
1,4-Bis[methanesulfonoxy]butane
1,4-Butanedi yl dimethanesulfonate
1,4-Butanediol dimethanesulfonate
1,4-Butanediol dimethanesulphonate
1,4-Butanediol dimethylsulfonate
1,4-Butanediol, dimethanesulfonate
1,4-Butanediol, dimethanesulphonate
1,4-Butanediyl dimethanesulfonate
1,4-Di(methylsulfonoxy)butane
1,4-Dimesyloxybutane
1,4-Dimethane sulfonyl oxybutane
1,4-Dimethanesulfonoxybutane
1,4-Dimethanesulfonoxylbutane
1,4-Dimethanesulfonyloxybutane
1,4-Dimethanesulphonyloxybutane
1,4-Dimethylsulfonoxybutane
1,4-Dimethylsulfonyloxybutane
2041 C. B
2041 C. B.
2041 C.B
2041 C.B.
4-((Methylsulfonyl)oxy)butyl methanesulfonate
4-methylsulfonyloxybutyl methanesulfonate
55-98-1
AC-198
AC1L1DRQ
AC1Q4GRQ
AI3-25012
AKOS003614975
AN 33501
Ambap55-98-1
B1022
B2635_FLUKA
B2635_SIGMA
BRN 1791786
BSPBio_001920
BUSULFAN (1,4-BUTANEDIOL, DIMETHANESULFONATE)
Bisulfex
Busilvex
Busulfan
Busulfan (JP15/USP/INN)
Busulfan GlaxoSmithKline Brand
Busulfan Orphan Brand
Busulfan Wellcome
Busulfan Wellcome Brand
Busulfan [INN:JAN]
Busulfano
Busulfano [INN-Spanish]
Busulfanum
Busulfanum [INN-Latin]
Busulfex
Busulphan
Busulphane
Butanedioldimethanesulfonate
Buzulfan
C.B. 2041
C6H14O6S2
CB 2041
CCRIS 418
CHEBI:28901
CHEMBL820
CID2478
CPD000058613
Citosulfan
D002066
D00248
DB01008
DivK1c_000847
EINECS 200-250-2
FT-0083567
G.T. 41
GT 2041
GT 41
Glaxo Wellcome Brand of Busulfan
GlaxoSmithKline Brand of Busulfan
Glyzophrol
HMS1920I07
HMS2091O09
HMS502K09
 
HSDB 7605
I09-1371
IDI1_000847
InChI=1/C6H14O6S2/c1-13(7,8)11-5-3-4-6-12-14(2,9)10/h3-6H2,1-2H3
KBio1_000847
KBio2_000512
KBio2_003080
KBio2_005648
KBio3_001420
KBioGR_000698
KBioSS_000512
LS-1358
Leucosulfan
MLS001076666
MYLERAN (TN)
Mablin
Methanesulfonic
Methanesulfonic acid, tetram ethylene ester
Methanesulfonic acid, tetramethylene ester
Mielevcin
Mielosan
Mielucin
Milecitan
Mileran
Misulban
Mitosan
Mitostan
MolPort-001-783-406
Myeleukon
Myeloleukon
Myelosan
Myelosanum
Mylecytan
Myleran
Myleran Tablets
Myleran tablets
Myleran, Busulfex, Busulfan
Mylerlan
NCGC00090905-01
NCGC00090905-02
NCGC00090905-03
NCGC00090905-04
NCGC00090905-05
NCGC00090905-06
NCGC00090905-07
NCI-C01592
NCI60_041640
NCIMech_000192
NINDS_000847
NSC 750
NSC-750
NSC-750sulphabutin
NSC750
Orphan Brand of Busulfan
Prestwick_989
S1692_Selleck
SAM002554887
SMR000058613
SPBio_000253
SPECTRUM1500152
ST50825921
Spectrum2_000067
Spectrum3_000320
Spectrum4_000259
Spectrum5_000928
Spectrum_000092
Sulfabutin
Sulfabutin (VAN)
Sulphabutin
Tetramethylene Dimethane Sulfonate
Tetramethylene bis(methanesulfonate)
Tetramethylene bis[methanesulfonate]
Tetramethylene dimethane sulfonate
Tetramethylene {bis[methanesulfonate]}
Tetramethylenester Kyseliny Methansulfonove
Tetramethylenester kyseliny methansulfonove
Tetramethylenester kyseliny methansulfonove [Czech]
UNII-G1LN9045DK
WLN: WS1&O4OSW1
Wellcome Brand of Busulfan
Wellcome, Busulfan
X 149
acid, tetramethylene ester
alkylating agent: crosslinks guanine residues
busulfan
butane-1,4-diyl dimethanesulfonate
n-Butane-1,3-di(methylsulfonate)
15Alkylating AgentsPhase 2, Phase 34827
16Antirheumatic AgentsPhase 2, Phase 310956
17Prednisolone hemisuccinatePhase 2, Phase 31193
18Prednisolone phosphatePhase 2, Phase 31193
19Methylprednisolone HemisuccinatePhase 2, Phase 31193
20Prednisolone acetatePhase 2, Phase 31193
21Methylprednisolone acetatePhase 2, Phase 31193
22Immunosuppressive AgentsPhase 2, Phase 313086
23Antineoplastic Agents, AlkylatingPhase 2, Phase 34603
24Antilymphocyte SerumPhase 2, Phase 3408
25
Mycophenolate mofetilapproved, investigationalPhase 2952128794-94-55281078
Synonyms:
115007-34-6
128794-94-5
140401-05-4
2-Morpholinoethyl (4E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (e)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-morpholin-4-ylethyl (4E)-6-[4-hydroxy-7-methyl-6-(methyloxy)-3-oxo-1,3-dihydro-2-benzofuran-5-yl]-4-methylhex-4-enoate
2-morpholin-4-ylethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)-4-methylhex-4-enoate
4-Hexenoic acid, 6-(1,3-dihydro-4-hydroxy-6-methoxy-7-methyl -3-oxo-5-isobenzofuranyl)-4-methyl-, 2-(4-morpholinyl)ethyl ester, (4E)
AC-1562
AC1NQXZW
AC1Q6O6X
AR-1J6939
BB_NC-2566
C07908
C23H31NO7
CHEMBL1456
CID5281078
CellCept
CellCept, RS 61443, TM-MMF, Mycophenolate mofetil
Cellcept
Cellcept (TN)
D00752
DB00688
HMS2090A03
 
HSDB 7436
I01-0898
I06-1947
LS-172272
LS-75572
ME-MPA
MMF
MMF CellCept(TM)
MolPort-000-883-800
Munoloc
Mycophenolate mofetil (JAN/USAN)
Mycophenolic acid morpholinoethyl ester
Mycophenylate mofetil
NCGC00159459-02
NCGC00159459-03
NSC724229
R-99
RS 61443
RS-61443
RS-61443-190
S1501_Selleck
TL8000648
TM-MMF
UNII-9242ECW6R0
ZINC21297660
mycophenolate mofetil
26
Omeprazoleapproved, investigational, vet_approvedPhase 234873590-58-64594
Synonyms:
( -)-Omeprazole
(-)-Omeprazole
(S)-(-)-Omeprazole
(S)-Omeprazole
119141-89-8
131959-78-9
172964-80-6
2,3,5-Trimethylpyridine/Omeprazole
2-(((3,5-Dimethyl-4-methoxy-2-pyridyl)methyl)sulfinyl)-5-methoxy-1H-benzimidazole
2-({[3,5-dimethyl-4-(methyloxy)pyridin-2-yl]methyl}sulfinyl)-5-(methyloxy)-1H-benzimidazole
5-Methoxy-2-(((4-methoxy-3,5-dimethyl-2-pyridyl)methyl)sulfinyl)benzimidazole
5-Methoxy-2-[[(4-methoxy-3,5-dimethyl-2-pyridinyl)methyl]sulfinyl]-1H-benzimidazole
5-Methoxy-2[(4-methoxy-3,5-dimethyl-2-pyridyl)methylsulfinyl]-1H-benzimidazole
5-methoxy-2-{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl}-1H-benzimidazole
6-methoxy-2-[(4-methoxy-3,5-dimethylpyridin-2-yl)methylsulfinyl]-1H-benzimidazole
73590-58-6
AC-401
AC1L1IIJ
AGI-010
AKOS005066653
AULCER
Antra
Antra MUPS
Audazol
Aulcer
Axagon
BIDD:GT0189
BPBio1_000425
BRD-A55962179-001-04-9
BSPBio_000385
Belmazol
Bio-0888
C07324
CAS-73590-58-6
CCRIS 7099
CHEBI:519601
CHEBI:7772
CHEMBL1503
CID4594
CPD000058847
Ceprandal
D00455
DB00338
DB00736
DM-3458
Danlox
Demeprazol
Desec
Dizprazol
Dudencer
Elgam
Emeproton
Emilok
Epirazole
Erbolin
Esomeprazole
Esomperazole
Esopral
Exter
Gasec
Gastrimut
Gastroloc
Gibancer
H 168-68
H 168/68
H-168/68
H168/68
HMS1528I05
HMS1569D07
HMS2052G17
HMS2090E16
HMS2090F11
HSDB 3575
I06-0705
IDI1_032523
Indurgan
Inhibitron
Inhipump
LS-7629
Lensor
Logastric
Lomac
Losec
Losec, Omesec, Prilosec, Zegerid, Omeprazole
Lucen
MLS000069373
MLS001076112
MLS001424148
Maybridge4_002645
Mepral
Miol
Miracid
MolPort-003-666-741
MolPort-003-807-515
MolPort-003-849-702
Mopral
Morecon
NCGC00016925-01
 
NCGC00016925-02
NCGC00021522-03
NCGC00021522-04
NCGC00021522-05
Nexiam
Nexium
Nexium IV
Nilsec
Nopramin
Nuclosina
O0359
O104_SIGMA
OMEP
OMP
OMZ
Ocid
Olexin
Olit
Omapren
Omebeta
Omebeta 20
Omed
Omegast
Omepradex
Omepral
Omeprazol
Omeprazol [INN-Spanish]
Omeprazole
Omeprazole (JAN/USP/INN)
Omeprazole Pellets
Omeprazole [USAN:INN:BAN:JAN]
Omeprazole delayed-release
Omeprazole magnesium
Omeprazolum
Omeprazolum [INN-Latin]
Omeprazon
Omeprazone
Omeprol
Omesek
Omez
Omezol
Omezolan
Omid
Omisec
Omizac
Ompanyt
Ortanol
Osiren
Ozoken
Paprazol
Parizac
Pepticum
Pepticus
Peptilcer
Prazentol
Prazidec
Prazolit
Prestwick0_000493
Prestwick1_000493
Prestwick2_000493
Prestwick3_000493
Prestwick_808
Prilosec
Prilosec (TN)
Prilosec OTC
Procelac
Proclor
Prysma
Ramezol
Regulacid
Result
S1389_Selleck
SAM001246900
SAN-15
SMR000058847
SPBio_002306
STK623746
Sanamidol
Secrepina
TL8005099
Tedec Ulceral
UNII-KG60484QX9
UPCMLD-DP075
UPCMLD-DP075:001
Ulceral
Ulcesep
Ulcometion
Ulcozol
Ulcsep
Ulsen
Ultop
Ulzol
Victrix
Zefxon
Zegerid
Zepral
Zimor
Zoltum
esomeprazol
omeprazole
27
Mycophenolic acidapprovedPhase 295224280-93-1446541
Synonyms:
(e)-6-(4-Hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoic acid
Acide mycophenolique
Acido micofenolico
Acidum mycophenolicum
 
Melbex
Micofenolico acido
Mycophenoic acid
Mycophenolate
Mycophenolsäure
Myfortic
28Anti-Bacterial AgentsPhase 211226
29Antibiotics, AntitubercularPhase 27180
30
MentholapprovedPhase 126062216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol

Interventional clinical trials:

(show all 21)
idNameStatusNCT IDPhase
1Cystagon to Treat Infantile Neuronal Ceroid LipofuscinosisCompletedNCT00028262Phase 4
2Stem Cell Transplant for Inborn Errors of MetabolismCompletedNCT00176904Phase 2, Phase 3
3Cellcept for Treatment of Juvenile Neuronal Ceroid LipofuscinosisCompletedNCT01399047Phase 2
4A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients With Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2) DiseaseCompletedNCT01907087Phase 1, Phase 2
5AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid LipofuscinosisRecruitingNCT01414985Phase 1, Phase 2
6Batten CLN6 Gene TherapyRecruitingNCT02725580Phase 1, Phase 2
7A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 DiseaseActive, not recruitingNCT02485899Phase 1, Phase 2
8A Safety, Tolerability, and Efficacy Study of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 DiseaseEnrolling by invitationNCT02678689Phase 2
9Study of HuCNS-SC Cells in Patients With Infantile or Late Infantile Neuronal Ceroid Lipofuscinosis (NCL)CompletedNCT00337636Phase 1
10Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid LipofuscinosisRecruitingNCT01161576Phase 1
11Human Placental-Derived Stem Cell TransplantationRecruitingNCT01586455Phase 1
12UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like CellsRecruitingNCT02254863Phase 1
13Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid LipofuscinosisActive, not recruitingNCT00151216Phase 1
14Safety and Efficacy Study of HuCNS-SC in Subjects With Neuronal Ceroid LipofuscinosisWithdrawnNCT01238315Phase 1
15Neuronal Ceroid Lipofuscinosis and Associated Sleep AbnormalitiesCompletedNCT01966757
16Genotype - Phenotype Correlations of LINCLCompletedNCT00151268
17Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
18Clinical and Neuropsychological Investigations in Batten DiseaseRecruitingNCT01873924
19Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid LipofuscinosisRecruitingNCT01035424
20Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
21Collection of Cerebrospinal Fluid in Healthy ChildrenTerminatedNCT01698229

Search NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 3

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 3

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Genetic tests related to Ceroid Lipofuscinosis, Neuronal, 3:

id Genetic test Affiliating Genes
1 Juvenile Neuronal Ceroid Lipofuscinosis27
2 Cln3 Disease24 CLN3

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 3

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MalaCards organs/tissues related to Ceroid Lipofuscinosis, Neuronal, 3:

36
Eye, Skin, Heart, Testes, Brain, Cerebellum

Publications for Ceroid Lipofuscinosis, Neuronal, 3

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Articles related to Ceroid Lipofuscinosis, Neuronal, 3:

idTitleAuthorsYear
1
Ceroid lipofuscinosis, neuronal 3, Juvenile-Batten disease: case report and literature review. (12363260)
2001

Variations for Ceroid Lipofuscinosis, Neuronal, 3

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UniProtKB/Swiss-Prot genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 3:

70
id Symbol AA change Variation ID SNP ID
1CLN3p.Leu101ProVAR_005131rs386833714
2CLN3p.Leu170ProVAR_005132rs386833727
3CLN3p.Glu295LysVAR_005133rs121434286
4CLN3p.Val330PheVAR_005134rs386833744
5CLN3p.Arg334CysVAR_005135rs386833694
6CLN3p.Arg334HisVAR_005136rs386833695
7CLN3p.Cys134ArgVAR_066892rs386833719
8CLN3p.Gly187AlaVAR_066893rs386833730
9CLN3p.Gly189ArgVAR_066894rs386833731

Clinvar genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 3:

5 (show all 70)
id Gene Variation Type Significance SNP ID Assembly Location
1CLN3NM_ 000086.2(CLN3): c.371_ 372insT (p.Ser125Glnfs)insertionPathogenicrs587779397GRCh37Chr 16, 28498985: 28498986
2CLN3NM_ 001042432.1(CLN3): c.17delG (p.Gly6Alafs)deletionPathogenicrs886043242GRCh37Chr 16, 28503064: 28503064
3CLN3NM_ 001042432.1(CLN3): c.461-280_ 677+382deldeletionPathogenicGRCh37Chr 16, 28497286: 28498251
4CLN3CLN3, 3-KB DEL, NT928deletionPathogenic
5CLN3CLN3, 6-KB DELdeletionPathogenic
6CLN3CLN3, IVSDS, G-C, +1/76-BP DELdeletionPathogenic
7CLN3NM_ 000086.2(CLN3): c.883G> A (p.Glu295Lys)SNVPathogenicrs121434286GRCh37Chr 16, 28493821: 28493821
8CLN3NM_ 001042432.1(CLN3): c.597C> A (p.Tyr199Ter)SNVPathogenic/ Likely pathogenicrs267606737GRCh37Chr 16, 28497748: 28497748
9CLN3NM_ 001042432.1(CLN3): c.962+1G> ASNVLikely pathogenicrs1057516267GRCh38Chr 16, 28482326: 28482326
10CLN3NM_ 001042432.1(CLN3): c.683dupT (p.Leu230Valfs)duplicationLikely pathogenicrs1057516335GRCh37Chr 16, 28495434: 28495434
11CLN3NM_ 001042432.1(CLN3): c.46+1G> ASNVLikely pathogenicrs1057516343GRCh37Chr 16, 28503034: 28503034
12CLN3NM_ 001042432.1(CLN3): c.906+2T> ASNVLikely pathogenicrs771788391GRCh38Chr 16, 28482475: 28482475
13CLN3NM_ 001042432.1(CLN3): c.963-1G> ASNVLikely pathogenicrs386833742GRCh38Chr 16, 28482199: 28482199
14CLN3NM_ 001042432.1(CLN3): c.1059C> A (p.Cys353Ter)SNVLikely pathogenicrs1057516677GRCh38Chr 16, 28477875: 28477875
15CLN3NM_ 001042432.1(CLN3): c.2T> C (p.Met1Thr)SNVLikely pathogenicrs777625354GRCh38Chr 16, 28491758: 28491758
16CLN3NM_ 001042432.1(CLN3): c.281_ 282delCT (p.Ser94Cysfs)deletionLikely pathogenicrs1057517215GRCh38Chr 16, 28488603: 28488604
17CLN3NM_ 001042432.1(CLN3): c.677+1G> TSNVLikely pathogenicrs1057517287GRCh37Chr 16, 28497667: 28497667
18CLN3NM_ 001042432.1(CLN3): c.791-1G> ASNVLikely pathogenicrs1057517350GRCh38Chr 16, 28482673: 28482673
19CLN3NM_ 001042432.1(CLN3): c.1000C> T (p.Arg334Cys)SNVLikely pathogenicrs386833694GRCh37Chr 16, 28493482: 28493482
20CLN3NM_ 001042432.1(CLN3): c.1001G> A (p.Arg334His)SNVLikely pathogenicrs386833695GRCh37Chr 16, 28493481: 28493481
21CLN3NM_ 001042432.1(CLN3): c.1048delC (p.Leu350Cysfs)deletionLikely pathogenicrs386833696GRCh37Chr 16, 28493434: 28493434
22CLN3NM_ 001042432.1(CLN3): c.1054C> T (p.Gln352Ter)SNVLikely pathogenicrs386833697GRCh37Chr 16, 28493428: 28493428
23CLN3NM_ 001042432.1(CLN3): c.1056+3A> CSNVLikely pathogenicrs386833698GRCh37Chr 16, 28493423: 28493423
24CLN3NM_ 001042432.1(CLN3): c.1056G> C (p.Gln352His)SNVLikely pathogenicrs386833699GRCh37Chr 16, 28493426: 28493426
25CLN3NM_ 001042432.1(CLN3): c.105G> A (p.Trp35Ter)SNVLikely pathogenicrs386833700GRCh37Chr 16, 28502823: 28502823
26CLN3NM_ 001042432.1(CLN3): c.1195G> T (p.Glu399Ter)SNVLikely pathogenicrs386833701GRCh37Chr 16, 28489060: 28489060
27CLN3NM_ 001042432.1(CLN3): c.1198-1G> TSNVLikely pathogenicrs386833702GRCh37Chr 16, 28488957: 28488957
28CLN3NM_ 001042432.1(CLN3): c.1247A> G (p.Asp416Gly)SNVLikely pathogenicrs386833703GRCh37Chr 16, 28488907: 28488907
29CLN3NM_ 001042432.1(CLN3): c.125+5G> ASNVLikely pathogenicrs386833704GRCh37Chr 16, 28502798: 28502798
30CLN3NM_ 001042432.1(CLN3): c.126-1G> ASNVLikely pathogenicrs386833705GRCh37Chr 16, 28500708: 28500708
31CLN3NM_ 001042432.1(CLN3): c.1268C> A (p.Ser423Ter)SNVLikely pathogenicrs386833706GRCh37Chr 16, 28488886: 28488886
32CLN3NM_ 001042432.1(CLN3): c.1272delG (p.Leu425Serfs)deletionLikely pathogenicrs386833707GRCh37Chr 16, 28488882: 28488882
33CLN3NM_ 001042432.1(CLN3): c.1A> C (p.Met1Leu)SNVLikely pathogenicrs386833708GRCh37Chr 16, 28503080: 28503080
34CLN3NM_ 001042432.1(CLN3): c.214C> T (p.Gln72Ter)SNVLikely pathogenicrs386833709GRCh37Chr 16, 28500619: 28500619
35CLN3NM_ 001042432.1(CLN3): c.222+2T> GSNVLikely pathogenicrs386833710GRCh37Chr 16, 28500609: 28500609
36CLN3NM_ 001042432.1(CLN3): c.222+5G> CSNVLikely pathogenicrs386833711GRCh37Chr 16, 28500606: 28500606
37CLN3NM_ 001042432.1(CLN3): c.233dupG (p.Thr80Asnfs)duplicationLikely pathogenicrs386833712GRCh37Chr 16, 28499973: 28499973
38CLN3NM_ 001042432.1(CLN3): c.265C> T (p.Arg89Ter)SNVLikely pathogenicrs386833713GRCh37Chr 16, 28499941: 28499941
39CLN3NM_ 001042432.1(CLN3): c.302T> C (p.Leu101Pro)SNVLikely pathogenicrs386833714GRCh37Chr 16, 28499055: 28499055
40CLN3NM_ 001042432.1(CLN3): c.370dupT (p.Tyr124Leufs)duplicationLikely pathogenicrs386833715GRCh37Chr 16, 28498987: 28498987
41CLN3NM_ 001042432.1(CLN3): c.374G> A (p.Ser125Asn)SNVLikely pathogenicrs386833716GRCh37Chr 16, 28498983: 28498983
42CLN3NM_ 001042432.1(CLN3): c.378_ 379dupCC (p.Arg127Profs)duplicationLikely pathogenicrs386833717GRCh37Chr 16, 28498858: 28498859
43CLN3NM_ 001042432.1(CLN3): c.379delC (p.Arg127Glyfs)deletionLikely pathogenicrs386833718GRCh37Chr 16, 28498858: 28498858
44CLN3NM_ 001042432.1(CLN3): c.400T> C (p.Cys134Arg)SNVLikely pathogenicrs386833719GRCh37Chr 16, 28498837: 28498837
45CLN3NM_ 001042432.1(CLN3): c.424delG (p.Val142Leufs)deletionPathogenic/ Likely pathogenicrs386833720GRCh37Chr 16, 28498813: 28498813
46CLN3NM_ 001042432.1(CLN3): c.461-13G> CSNVLikely pathogenicrs386833721GRCh37Chr 16, 28497984: 28497984
47CLN3NM_ 001042432.1(CLN3): c.461-1G> ASNVLikely pathogenicrs386833722GRCh37Chr 16, 28497972: 28497972
48CLN3NM_ 001042432.1(CLN3): c.461-1G> CSNVLikely pathogenicrs386833722GRCh37Chr 16, 28497972: 28497972
49CLN3NM_ 001042432.1(CLN3): c.472G> C (p.Ala158Pro)SNVLikely pathogenicrs386833723GRCh37Chr 16, 28497960: 28497960
50CLN3NM_ 001042432.1(CLN3): c.482C> G (p.Ser161Ter)SNVLikely pathogenicrs386833724GRCh37Chr 16, 28497950: 28497950
51CLN3NM_ 001042432.1(CLN3): c.485C> G (p.Ser162Ter)SNVLikely pathogenicrs386833725GRCh37Chr 16, 28497947: 28497947
52CLN3NM_ 001042432.1(CLN3): c.49G> T (p.Glu17Ter)SNVLikely pathogenicrs386833726GRCh37Chr 16, 28502879: 28502879
53CLN3NM_ 001042432.1(CLN3): c.509T> C (p.Leu170Pro)SNVLikely pathogenicrs386833727GRCh37Chr 16, 28497923: 28497923
54CLN3NM_ 001042432.1(CLN3): c.533+1G> ASNVLikely pathogenicrs386833728GRCh37Chr 16, 28497898: 28497898
55CLN3NM_ 001042432.1(CLN3): c.533+1G> CSNVLikely pathogenicrs386833728GRCh37Chr 16, 28497898: 28497898
56CLN3NM_ 001042432.1(CLN3): c.558_ 559delAG (p.Gly187Aspfs)deletionLikely pathogenicrs386833729GRCh37Chr 16, 28497786: 28497787
57CLN3NM_ 001042432.1(CLN3): c.560G> C (p.Gly187Ala)SNVLikely pathogenicrs386833730GRCh37Chr 16, 28497785: 28497785
58CLN3NM_ 001042432.1(CLN3): c.565G> C (p.Gly189Arg)SNVLikely pathogenicrs386833731GRCh37Chr 16, 28497780: 28497780
59CLN3NM_ 001042432.1(CLN3): c.569delG (p.Gly190Glufs)deletionLikely pathogenicrs386833732GRCh37Chr 16, 28497776: 28497776
60CLN3NM_ 001042432.1(CLN3): c.575G> A (p.Gly192Glu)SNVLikely pathogenicrs386833733GRCh37Chr 16, 28497770: 28497770
61CLN3NM_ 001042432.1(CLN3): c.586dupG (p.Ala196Glyfs)duplicationLikely pathogenicrs386833735GRCh37Chr 16, 28497759: 28497759
62CLN3NM_ 001042432.1(CLN3): c.622dupT (p.Ser208Phefs)duplicationLikely pathogenicrs386833736GRCh37Chr 16, 28497723: 28497723
63CLN3NM_ 001042432.1(CLN3): c.631C> T (p.Gln211Ter)SNVLikely pathogenicrs386833737GRCh37Chr 16, 28497714: 28497714
64CLN3NM_ 001042432.1(CLN3): c.883G> T (p.Glu295Ter)SNVLikely pathogenicrs121434286GRCh37Chr 16, 28493821: 28493821
65CLN3NM_ 001042432.1(CLN3): c.906+5G> ASNVLikely pathogenicrs386833739GRCh37Chr 16, 28493793: 28493793
66CLN3NM_ 001042432.1(CLN3): c.944dupA (p.His315Glnfs)duplicationPathogenic/ Likely pathogenicrs386833740GRCh37Chr 16, 28493666: 28493666
67CLN3NM_ 001042432.1(CLN3): c.954_ 962+18del27deletionLikely pathogenicrs386833741GRCh37Chr 16, 28493630: 28493656
68CLN3NM_ 001042432.1(CLN3): c.963-1G> TSNVLikely pathogenicrs386833742GRCh37Chr 16, 28493520: 28493520
69CLN3NM_ 001042432.1(CLN3): c.979C> T (p.Gln327Ter)SNVLikely pathogenicrs386833743GRCh37Chr 16, 28493503: 28493503
70CLN3NM_ 001042432.1(CLN3): c.988G> T (p.Val330Phe)SNVLikely pathogenicrs386833744GRCh37Chr 16, 28493494: 28493494

Expression for genes affiliated with Ceroid Lipofuscinosis, Neuronal, 3

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Search GEO for disease gene expression data for Ceroid Lipofuscinosis, Neuronal, 3.

Pathways for genes affiliated with Ceroid Lipofuscinosis, Neuronal, 3

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Pathways related to Ceroid Lipofuscinosis, Neuronal, 3 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
18.9CLN3, CLN5, CTSD, PPT1, TPP1

GO Terms for genes affiliated with Ceroid Lipofuscinosis, Neuronal, 3

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Cellular components related to Ceroid Lipofuscinosis, Neuronal, 3 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:004320210.2CTSD, PPT1, TPP1
2membrane raftGO:004512110.1CLN3, CTSD, PPT1
3specific granule lumenGO:003558010.0CTSD, HP
4tertiary granule lumenGO:19047249.6CTSD, HP
5lysosomeGO:00057649.5CLN3, CLN5, CTSD, PPT1, TPP1

Biological processes related to Ceroid Lipofuscinosis, Neuronal, 3 according to GeneCards Suite gene sharing:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1IRE1-mediated unfolded protein responseGO:003649810.4SULT1A3, TPP1
2ceramide metabolic processGO:000667210.3CLN3, CLN8
3adult locomotory behaviorGO:000834410.3CLN8, PPT1
4cellular protein catabolic processGO:004425710.3CLN8, PPT1
5negative regulation of proteolysisGO:004586110.3CLN3, CLN8
63-phosphoadenosine 5-phosphosulfate metabolic processGO:005042710.3SULT1A1, SULT1A3
7catecholamine metabolic processGO:000658410.3SULT1A1, SULT1A3
8ethanol catabolic processGO:000606810.3SULT1A1, SULT1A3
9flavonoid metabolic processGO:000981210.3SULT1A1, SULT1A3
10sulfationGO:005192310.2SULT1A1, SULT1A3
11associative learningGO:000830610.0CLN3, CLN8, PPT1
12neuromuscular process controlling balanceGO:005088510.0CLN3, CLN8, TPP1
13receptor-mediated endocytosisGO:000689810.0CLN3, HP, PPT1
14cellular macromolecule catabolic processGO:00442659.7CLN6, CLN8, PPT1
15lysosomal lumen acidificationGO:00070429.6CLN3, CLN5, CLN6, PPT1
16lysosome organizationGO:00070409.1CLN3, CLN6, CLN8, PPT1, TPP1
17visual perceptionGO:00076019.0CLN6, CLN8, PPT1
18protein catabolic processGO:00301638.3CLN3, CLN5, CLN6, CLN8, CTSD, PPT1

Molecular functions related to Ceroid Lipofuscinosis, Neuronal, 3 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1aryl sulfotransferase activityGO:000406210.2SULT1A1, SULT1A3
2serine-type endopeptidase activityGO:00042529.7CTSD, HP, TPP1
3sulfotransferase activityGO:00081469.6SULT1A1, SULT1A3

Sources for Ceroid Lipofuscinosis, Neuronal, 3

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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