MCID: NRN021
MIFTS: 58

Neuronal Ceroid Lipofuscinosis malady

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

Aliases & Classifications for Neuronal Ceroid Lipofuscinosis

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Aliases & Descriptions for Neuronal Ceroid Lipofuscinosis:

Name: Neuronal Ceroid Lipofuscinosis 11 46 47 13 25
Neuronal Ceroid-Lipofuscinoses 37 66
Juvenile Neuronal Ceroid Lipofuscinosis 66
 
Hereditary Ceroid Lipofuscinosis 11
Batten Disease 46
Ncl 46

Classifications:



External Ids:

Disease Ontology11 DOID:14503
ICD1028 E75.4
SNOMED-CT60 42012007
MeSH37 D009472
NCIt43 C61257

Summaries for Neuronal Ceroid Lipofuscinosis

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NINDS:47 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.

MalaCards based summary: Neuronal Ceroid Lipofuscinosis, also known as neuronal ceroid-lipofuscinoses, is related to adult neuronal ceroid lipofuscinosis and late-infantile neuronal ceroid lipofuscinosis, and has symptoms including visual impairment, abnormal electroretinogram and ocular albinism. An important gene associated with Neuronal Ceroid Lipofuscinosis is TPP1 (Tripeptidyl Peptidase 1), and among its related pathways are MHC class II antigen presentation and Lysosome. Affiliated tissues include brain, eye and testes, and related mouse phenotypes are pigmentation and hematopoietic system.

NIH Rare Diseases:46 Neuronal ceroid lipofuscinosis (ncl) refers to a group of conditions that affect the nervous system. signs and symptoms vary widely between the forms but generally include a combination of dementia, vision loss, and epilepsy. although the ncls were historically classified according to their age of onset and clinical features, the most recent classification system is primarily based on their underlying genetic cause. most forms are inherited in an autosomal recessive manner; however, autosomal dominant inheritance has been reported in one adult-onset form (neuronal ceroid lipofuscinosis 4b). treatment options are limited to therapies that can help relieve some of the symptoms. last updated: 9/7/2015

Wikipedia:69 Neuronal ceroid lipofuscinosis (NCL) is the general name for a family of at least eight genetically... more...

Related Diseases for Neuronal Ceroid Lipofuscinosis

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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
Adult Neuronal Ceroid Lipofuscinosis Congenital Neuronal Ceroid Lipofuscinosis
Late-Infantile Neuronal Ceroid Lipofuscinosis

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

(show top 50)    (show all 78)
idRelated DiseaseScoreTop Affiliating Genes
1adult neuronal ceroid lipofuscinosis12.8
2late-infantile neuronal ceroid lipofuscinosis12.7
3congenital neuronal ceroid lipofuscinosis12.6
4ceroid lipofuscinosis, neuronal, 1012.3
5neuronal ceroid-lipofuscinoses12.2
6ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant12.2
7ceroid lipofuscinosis, neuronal, 312.2
8ceroid lipofuscinosis, neuronal, 512.2
9ceroid lipofuscinosis, neuronal, 612.2
10ceroid lipofuscinosis, neuronal, 112.2
11ceroid lipofuscinosis, neuronal, 212.1
12ceroid lipofuscinosis, neuronal, 4, parry type12.1
13ceroid lipofuscinosis, neuronal, 712.1
14ceroid lipofuscinosis, neuronal, 13, kufs type11.8
15ceroid lipofuscinosis, neuronal, kufs type, adult onset11.8
16ceroid lipofuscinosis, neuronal, 911.8
17ceroid lipofuscinosis, neuronal, 1111.8
18juvenile batten disease11.8
19cln3 disease11.7
20epilepsy, progressive myoclonic 3, with or without intracellular inclusions11.6
21neuronitis11.5
22cln11 disease11.4
23cln12 disease11.2
24cln13 disease11.2
25cln14 disease11.2
26cln4 disease11.2
27ceroid lipofuscinosis, neuronal, 810.9
28retinitis10.7
29clrn1-related retinitis pigmentosa10.5CLN3, PPT1
30retinal degeneration10.4
31epilepsy10.4
32kufor-rakeb syndrome10.3
33penis sarcoma10.3CLN8, MFSD8
34posterior foramen magnum meningioma10.2CLN3, PPT1, TPP1
35rett syndrome10.2
36retinitis pigmentosa10.2
37left ventricular noncompaction10.2
38hypertrophic cardiomyopathy10.2
39neuroaxonal dystrophy10.2
40gangliosidosis10.2
41cerebritis10.2
42cardiomyopathy10.2
43ataxia10.2
44breast cancer10.1
45spinocerebellar ataxia 710.1
46aspartylglucosaminuria10.1
47krabbe disease10.1
48choroideremia10.1
49cataract10.1
50hematopoietic stem cell transplantation10.1

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



Diseases related to neuronal ceroid lipofuscinosis

Symptoms for Neuronal Ceroid Lipofuscinosis

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HPO human phenotypes related to Neuronal Ceroid Lipofuscinosis:

(show all 15)
id Description Frequency HPO Source Accession
1 visual impairment hallmark (90%) HP:0000505
2 abnormal electroretinogram hallmark (90%) HP:0000512
3 ocular albinism hallmark (90%) HP:0001107
4 seizures hallmark (90%) HP:0001250
5 muscular hypotonia hallmark (90%) HP:0001252
6 eeg abnormality hallmark (90%) HP:0002353
7 abnormality of the retinal vasculature hallmark (90%) HP:0008046
8 cognitive impairment hallmark (90%) HP:0100543
9 optic atrophy typical (50%) HP:0000648
10 abnormality of metabolism/homeostasis typical (50%) HP:0001939
11 neurological speech impairment typical (50%) HP:0002167
12 developmental regression typical (50%) HP:0002376
13 abnormality of movement typical (50%) HP:0100022
14 behavioral abnormality occasional (7.5%) HP:0000708
15 incoordination occasional (7.5%) HP:0002311

UMLS symptoms related to Neuronal Ceroid Lipofuscinosis:


myoclonus, seizures, extrapyramidal sign

Drugs & Therapeutics for Neuronal Ceroid Lipofuscinosis

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

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetylcysteinePhase 4304616-91-112035
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
2
CysteaminePhase 42660-23-16058
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
PrednisolonePhase 2, Phase 3111850-24-85755
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
4PREDNISOLONE ACETATEPhase 2, Phase 31118
5
MethylprednisolonePhase 2, Phase 3111883-43-26741
Synonyms:
(6S,8S,9S,10R,11S,13S,14S,17R)-11,17-dihydroxy-17-(2-hydroxyacetyl)-6,10,13-trimethyl-7,8,9,11,12,14,15,16-octahydro-6H-cyclopenta[a]phenanthren-3-one
(6a,11b)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6alpha,11beta)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6α,11β)-11,17,21-trihydroxy-6-methylpregna-1,4-diene-3,20-dione
.DELTA.1-6.alpha.-Methylhydrocortisone
1-Dehydro-6alpha-methylhydrocortisone
1-dehydro-6alpha-Methylhydrocortisone
1-dehydro-6α-methylhydrocortisone
11-beta,17,21-Trihydroxy-6-alpha-methylpregna-1,4-diene-3,20-dione
11beta,17,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methyl-1,4-pregnadiene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
121673-01-6
4-08-00-03498 (Beilstein Handbook Reference)
46436_FLUKA
46436_RIEDEL
570-35-4
6 Methylprednisolone
6-Methylprednisolone
6-alpha-Methylprednisolone
6.alpha.-Methylprednisolone
6923-42-8
6alpha-Methyl-11beta,17alpha,21-trihydroxy-1,4-pregnadiene-3,20-dione
6alpha-Methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
6alpha-Methylprednisolone
6alpha-methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
83-43-2
AC1L1N7A
Artisone-Wyeth
Artisone-wyeth
BPBio1_000174
BRD-K35240538-001-03-1
BRN 2340300
BSPBio_000158
Besonia
Bio-0658
CHEBI:6888
CHEMBL650
CID6741
CPD000058330
D00407
D008775
DB00959
Depo-Medrol (acetate)
Dopomedrol
EINECS 201-476-4
Esametone
Firmacort
HMS1568H20
HMS2090B13
HSDB 3127
LMST02030178
LS-118498
Lemod
M0639_SIGMA
M1665
MEPRDL
MLS000028541
MLS001148159
MLS002207191
Medesone
Medixon
Medlone 21
 
Medrate
Medrol
Medrol (TN)
Medrol Adt Pak
Medrol Dosepak
Medrol adt pak
Medrol dosepak
Medrol, Solu-Medrol, Medrone, Methylprednisolone
Medrone
Mesopren
Metastab
Methyleneprednisolone
Methylprednisolon
Methylprednisolone
Methylprednisolone (JP15/USP/INN)
Methylprednisolone [USAN:INN:BAN:JAN]
Methylprednisolone, 6-alpha
Methylprednisolonum
Methylprednisolonum [INN-Latin]
Metilbetasone
Metilprednisolona
Metilprednisolona [INN-Spanish]
Metilprednisolone
Metilprednisolone [DCIT]
Metilprednisolone [Dcit]
Metipred
Metrisone
Metrocort
Metysolon
Moderin
MolPort-002-528-554
NCGC00022735-03
NCI60_001657
NSC-19987
NSC19987
Nirypan
Noretona
Predni N Tablinen
Prednol- L
Pregna-1,4-diene-3,20-dione, 11beta,17,21-trihydroxy-6alpha-methyl- (8CI)
Prestwick0_000279
Prestwick1_000279
Prestwick2_000279
Prestwick3_000279
Prestwick_622
Promacortine
Reactenol
S1733_Selleck
SAM002589984
SMR000058330
SPBio_002377
Sieropresol
Solomet
Summicort
Suprametil
U 7532
UNII-X4W7ZR7023
Urbason
Urbasone
Wyacort
ZINC03875560
delta(1)-6alpha-Methylhydrocortisone
delta(sup 1)-6-alpha-Methylhydrocortisone
methylprednisolone
methylprenisolone
6
CyclophosphamidePhase 2, Phase 3275650-18-0, 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
7Alkylating AgentsPhase 2, Phase 34573
8
BusulfanPhase 2, Phase 353255-98-12478
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)
9
OmeprazolePhase 233173590-58-64594
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
10
Mycophenolate mofetilPhase 2919128794-94-55281078
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
11
Mycophenolic acidPhase 291924280-93-1446541
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
12
MentholPhase 121842216-51-516666
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
3A 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
4Cellcept for Treatment of Juvenile Neuronal Ceroid LipofuscinosisCompletedNCT01399047Phase 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 Patients 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
11UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like CellsRecruitingNCT02254863Phase 1
12Human Placental-Derived Stem Cell TransplantationRecruitingNCT01586455Phase 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
17Clinical and Neuropsychological Investigations in Batten DiseaseRecruitingNCT01873924
18Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid LipofuscinosisRecruitingNCT01035424
19Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
20Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
21Collection of Cerebrospinal Fluid in Healthy ChildrenTerminatedNCT01698229

Search NIH Clinical Center for Neuronal Ceroid Lipofuscinosis


Cochrane evidence based reviews: neuronal ceroid-lipofuscinoses

Genetic Tests for Neuronal Ceroid Lipofuscinosis

About this section

Genetic tests related to Neuronal Ceroid Lipofuscinosis:

id Genetic test Affiliating Genes
1 Neuronal Ceroid Lipofuscinosis25

Anatomical Context for Neuronal Ceroid Lipofuscinosis

About this section

MalaCards organs/tissues related to Neuronal Ceroid Lipofuscinosis:

34
Brain, Eye, Testes, Skin, Liver, Spleen, Kidney

Animal Models for Neuronal Ceroid Lipofuscinosis or affiliated genes

About this section

MGI Mouse Phenotypes related to Neuronal Ceroid Lipofuscinosis:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9ATP13A2, CLN8, GRN, MFSD8, PPT1
2MP:00053977.4CLN3, CLN6, CTSD, GRN, MFSD8, PPT1
3MP:00053847.2ATP13A2, CLN3, CTSD, GRN, MFSD8, PSAP
4MP:00053916.6CLN3, CLN5, CLN6, CLN8, CTSD, DNAJC5
5MP:00107686.2CLN3, CLN6, CLN8, CTSD, CTSF, DNAJC5
6MP:00053866.1ATP13A2, CLN3, CLN6, CLN8, CTSD, CTSF
7MP:00036315.7ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD

Publications for Neuronal Ceroid Lipofuscinosis

About this section

Articles related to Neuronal Ceroid Lipofuscinosis:

(show top 50)    (show all 592)
idTitleAuthorsYear
1
Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis. (27553520)
2016
2
Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas. (27211611)
2016
3
Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5. (25934231)
2015
4
Expression profile of a Caenorhabditis elegans model of adult neuronal ceroid lipofuscinosis reveals down regulation of ubiquitin E3 ligase components. (26395859)
2015
5
Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease). (24547931)
2014
6
Cell biology and function of neuronal ceroid lipofuscinosis-related proteins. (23402926)
2013
7
Neuronal ceroid lipofuscinosis with early-onset dementia and periventricular leukoencephalopathy in which a skin biopsy was diagnostically useful. (24088765)
2013
8
Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease). (23747979)
2013
9
Identifying protein partners of CLN8, an ER-resident protein involved in neuronal ceroid lipofuscinosis. (23142642)
2013
10
Atypical juvenile neuronal ceroid lipofuscinosis: A report of three cases. (24082928)
2013
11
Successful PGD for late infantile neuronal ceroid lipofuscinosis achieved by combined chromosome and TPP1 gene analysis. (23768618)
2013
12
Systemic administration of tripeptidyl peptidase I in a mouse model of late infantile neuronal ceroid lipofuscinosis: effect of glycan modification. (22792360)
2012
13
A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis. (20820830)
2011
14
Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data. (21556831)
2011
15
Alterations in striatal dopamine catabolism precede loss of substantia nigra neurons in a mouse model of juvenile neuronal ceroid lipofuscinosis. (17617387)
2007
16
Metabolomic investigation of CLN6 neuronal ceroid lipofuscinosis in affected South Hampshire sheep. (17510975)
2007
17
Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. (17607606)
2007
18
Optimized synthesis of AMPA receptor antagonist ZK 187638 and neurobehavioral activity in a mouse model of neuronal ceroid lipofuscinosis. (16972289)
2006
19
Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 gene. (16935476)
2006
20
Cathepsin D deficiency underlies congenital human neuronal ceroid- lipofuscinosis. (16670177)
2006
21
Radiation hybrid mapping of three candidate genes for bovine Neuronal Ceroid Lipofuscinosis: CLN3, CLN5 and CLN6. (16974076)
2006
22
From gene to disease; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis]. (15730038)
2005
23
Neuronal ceroid-lipofuscinosis in a Holstein steer. (15825505)
2005
24
A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis. (15629147)
2005
25
Neuronal ceroid lipofuscinosis in Merino sheep. (12074311)
2002
26
Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2). (11588995)
2001
27
The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. (10861296)
2000
28
The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis. (10781062)
2000
29
Phospholipid composition in late infantile neuronal ceroid lipofuscinosis. (11114964)
2000
30
Rapid immunologic diagnosis of classic late infantile neuronal ceroid lipofuscinosis. (10762513)
2000
31
Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene. (10356316)
1999
32
First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis. (10416973)
1999
33
Mutational analysis of the defective protease in classic late- infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. (10330339)
1999
34
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. (9662406)
1998
35
Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis. (9450775)
1998
36
Molecular diagnosis of Finnish type infantile neuronal ceroid lipofuscinosis by restriction fragment length polymorphism and oligonucleotide ligation assay. (9799772)
1998
37
Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits. (9151314)
1997
38
Morphologic diagnosis in neuronal ceroid lipofuscinosis. (9151327)
1997
39
Atypical late infantile and juvenile forms of neuronal ceroid lipofuscinosis and their diagnostic difficulties. (9377079)
1997
40
Decreased activity of the mitochondrial ATP-synthase in fibroblasts from children with late-infantile and juvenile neuronal ceroid lipofuscinosis. (8739947)
1996
41
The Brn-3a transcription factor gene (POU4F1) maps close to the locus for the variant late infantile form of neuronal ceroid-lipofuscinosis. (8941380)
1996
42
Human palmitoyl protein thioesterase: evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis. (8895569)
1996
43
6th International Congress on Neuronal-Ceroid-Lipofuscinosis (NCL-96), June 8-11, 1996, Gustavelund, Finland. (8944322)
1996
44
Neuronal ceroid-lipofuscinosis in a cat. (8578638)
1995
45
Neuronal ceroid-lipofuscinosis: late infantile form or juvenile form? (7573768)
1995
46
Avoid diagnostic delay of late infantile and juvenile neuronal ceroid-lipofuscinosis (LINCL, JNCL): a word to pediatricians, neurologists, and ophthalmologists. (7668337)
1995
47
Abnormal degradative pathway of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid-lipofuscinosis (Batten disease). (7668341)
1995
48
Diagnoses of neuronal ceroid-lipofuscinosis by immunochemical methods. (7668338)
1995
49
Decline in glucose metabolism in the brain in neuronal ceroid lipofuscinosis (NCL) in English setter--evidence by positron emission tomography (PET). (8821336)
1995
50
Abnormal lysosomal cathepsin activities in leukocytes and cultured skin fibroblasts in late infantile, but not in juvenile neuronal ceroid-lipofuscinosis (Batten disease). (1638746)
1992

Variations for Neuronal Ceroid Lipofuscinosis

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Clinvar genetic disease variations for Neuronal Ceroid Lipofuscinosis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TPP1NM_000391.3(TPP1): c.622C> T (p.Arg208Ter)single nucleotide variantPathogenicrs119455955GRCh37Chr 11, 6638271: 6638271
2TPP1NM_000391.3(TPP1): c.509-1G> Csingle nucleotide variantPathogenicrs56144125GRCh37Chr 11, 6638385: 6638385

Expression for genes affiliated with Neuronal Ceroid Lipofuscinosis

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

Pathways for genes affiliated with Neuronal Ceroid Lipofuscinosis

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

idSuper pathwaysScoreTop Affiliating Genes
19.0CTSD, CTSF, RAB7A
27.9CLN3, CLN5, CTSD, CTSF, MFSD8, PPT1

GO Terms for genes affiliated with Neuronal Ceroid Lipofuscinosis

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

idNameGO IDScoreTop Affiliating Genes
1membrane raftGO:004512110.1CLN3, CTSD, PPT1
2melanosomeGO:004247010.0CTSD, DNAJC5, TPP1
3synaptic vesicleGO:000802110.0CLN3, DNAJC5, PPT1
4late endosomeGO:00057709.4ATP13A2, CLN3, RAB7A
5lysosomal lumenGO:00432028.8ATP13A2, CTSD, CTSF, PPT1, PSAP, TPP1
6lysosomeGO:00057647.1ATP13A2, CLN3, CLN5, CTSD, CTSF, MFSD8
7lysosomal membraneGO:00057657.1ATP13A2, CLN3, CLN5, DNAJC5, MFSD8, PSAP
8extracellular exosomeGO:00700626.8CLN5, CTSD, CTSF, DNAJC5, GRN, PPT1

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1cellular macromolecule catabolic processGO:004426510.4CLN6, PPT1
2ceramide metabolic processGO:000667210.4CLN3, CLN8
3cellular protein catabolic processGO:004425710.2CLN8, PPT1
4negative regulation of proteolysisGO:004586110.0CLN3, CLN8
5neuromuscular process controlling balanceGO:00508859.9CLN3, CLN8, TPP1
6lysosomal lumen acidificationGO:00070429.9CLN3, CLN5, CLN6, PPT1
7bone resorptionGO:00454539.8RAB7A, TPP1
8negative regulation of neuron apoptotic processGO:00435249.7CLN3, DNAJC5, PPT1
9positive regulation of exosomal secretionGO:19035439.7ATP13A2, RAB7A
10associative learningGO:00083069.7CLN3, CLN8, PPT1
11visual perceptionGO:00076019.3CLN6, CLN8, PPT1
12lysosome organizationGO:00070409.3CLN3, CLN6, CLN8, MFSD8, PPT1, TPP1
13antigen processing and presentation of exogenous peptide antigen via MHC class IIGO:00198869.2CTSD, CTSF, RAB7A
14protein catabolic processGO:00301639.0CLN3, CLN5, CLN6, CLN8, CTSD, PPT1

Sources for Neuronal Ceroid Lipofuscinosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet