Neuronal Ceroid-Lipofuscinoses disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: NRN005 MIFTS: 46	Neuronal Ceroid-Lipofuscinoses Categories: Neuronal diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Neuronal Ceroid-Lipofuscinoses

MalaCards integrated aliases for Neuronal Ceroid-Lipofuscinoses:

Name: Neuronal Ceroid-Lipofuscinoses ⁴² ²⁵ ³⁹ ⁷⁴

Neuronal Ceroid-Lipofuscinosis, Infantile ⁴² ³⁹

Juvenile Neuronal Ceroid Lipofuscinosis ⁷⁴

Neuronal Ceroid Lipofuscinoses ⁵⁶

Batten Disease ²⁵

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷⁴ C0027877 C0751383

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Summaries for Neuronal Ceroid-Lipofuscinoses

MalaCards based summary : Neuronal Ceroid-Lipofuscinoses, also known as neuronal ceroid-lipofuscinosis, infantile, is related to ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant and ceroid lipofuscinosis, neuronal, 9, and has symptoms including seizures, myoclonus and abnormality of extrapyramidal motor function. An important gene associated with Neuronal Ceroid-Lipofuscinoses is CLN5 (CLN5 Intracellular Trafficking Protein), and among its related pathways/superpathways are Neuroscience and Lysosome. The drugs Cysteamine and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include brain, lung and testes, and related phenotypes are no effect and behavior/neurological

GeneReviews: NBK1428

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Related Diseases for Neuronal Ceroid-Lipofuscinoses

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

(show top 50) (show all 71)

#	Related Disease	Score	Top Affiliating Genes
1	ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	32.4	CLN5 CLN6 CLN8 MFSD8
2	ceroid lipofuscinosis, neuronal, 9	32.4	CLN5 CLN6 CLN8 DNAJC5
3	ceroid lipofuscinosis, neuronal, 13	32.3	CLN5 CLN8 CTSF DNAJC5
4	ceroid lipofuscinosis, neuronal, 7	32.2	CLN3 CLN5 CLN6 CLN8 DNAJC5 MFSD8
5	ceroid lipofuscinosis, neuronal, 10	32.2	CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
6	ceroid lipofuscinosis, neuronal, 3	32.0	BAMBI CLN3 CLN5 CLN6 CTSD PPT1
7	ceroid storage disease	32.0	CLN3 CLN5 CLN6 CLN8 DNAJC5 PPT1
8	ceroid lipofuscinosis, neuronal, 1	31.8	CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
9	ceroid lipofuscinosis, neuronal, 2	31.3	CLN3 CLN5 CLN6 CLN8 CTSD CTSF
10	ceroid lipofuscinosis, neuronal, 11	31.0	CLN3 CLN5 CLN6 CLN8 CTSD CTSF
11	neuronal ceroid lipofuscinosis	30.6	BAMBI CLN3 CLN5 CLN6 CLN8 CTSD
12	amyotrophic lateral sclerosis 1	28.7	CALB2 GFAP GRN PVALB SLC1A3
13	ceroid lipofuscinosis, neuronal, 4a, autosomal recessive	11.6
14	ceroid lipofuscinosis, neuronal, 5	11.6
15	ceroid lipofuscinosis, neuronal, 8	11.6
16	ceroid lipofuscinosis, neuronal, 6	11.6
17	ceroid lipofuscinosis, neuronal, 4b, autosomal dominant	11.4
18	epilepsy	10.5
19	aging	10.3
20	dementia	10.3
21	hermansky-pudlak syndrome	10.3
22	movement disease	10.3
23	progressive myoclonus epilepsy	10.3
24	myoclonus epilepsy	10.3
25	myoclonus	10.3
26	visual cortex disease	10.3	CLN8 MFSD8
27	gm1 gangliosidosis	10.3
28	gangliosidosis	10.3
29	visual pathway disease	10.3	CLN8 MFSD8
30	inclusion-cell disease	10.3	CTSD PSAP
31	lysosomal storage disease	10.2	CLN3 PPT1 TPP1
32	cerebral atrophy	10.2	CLN6 CTSD DNAJC5
33	intracranial cysts	10.2	GFAP S100B
34	gemistocytic astrocytoma	10.2	GFAP S100B
35	syringocystadenoma papilliferum	10.2	GFAP S100B
36	chordoid meningioma	10.2	GFAP S100B
37	dysembryoplastic neuroepithelial tumor	10.2	GFAP S100B
38	spindle cell rhabdomyosarcoma	10.2	GFAP S100B
39	myxopapillary ependymoma	10.1	GFAP S100B
40	papillary ependymoma	10.1	GFAP S100B
41	ideomotor apraxia	10.1	GRN MBP
42	chordoid glioma	10.1	GFAP S100B
43	syringoma	10.1	GFAP S100B
44	angiocentric glioma	10.1	GFAP S100B
45	chiari malformation	10.1	GFAP MBP
46	pineocytoma	10.1	GFAP S100B
47	rosai-dorfman disease	10.0	CTSD S100B
48	anaplastic ependymoma	10.0	GFAP S100B
49	wernicke encephalopathy	10.0	GFAP SLC1A3
50	huntington disease	9.9

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

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Symptoms & Phenotypes for Neuronal Ceroid-Lipofuscinoses

UMLS symptoms related to Neuronal Ceroid-Lipofuscinoses:

seizures, myoclonus, abnormality of extrapyramidal motor function, cerebellar signs

GenomeRNAi Phenotypes related to Neuronal Ceroid-Lipofuscinoses according to GeneCards Suite gene sharing:

²⁷

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	9.9	BAMBI CALB2 CLN3 CLN5 CLN6 CLN8

MGI Mouse Phenotypes related to Neuronal Ceroid-Lipofuscinoses:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.36	BAMBI CALB2 CLN3 CLN6 CLN8 CTSD
2	mortality/aging	MP:0010768	10.1	CLN3 CLN6 CLN8 CTSD CTSF DNAJC5
3	cellular	MP:0005384	10.07	CLN3 CTSD GFAP GRN MBP MFSD8
4	homeostasis/metabolism	MP:0005376	10.06	CLN3 CTSD DNAJC5 GFAP GRN MBP
5	nervous system	MP:0003631	9.89	CALB2 CLN3 CLN5 CLN6 CLN8 CTSD
6	muscle	MP:0005369	9.7	DNAJC5 GFAP MFSD8 PPT1 PSAP PVALB
7	vision/eye	MP:0005391	9.47	CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5

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Drugs & Therapeutics for Neuronal Ceroid-Lipofuscinoses

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

(show all 48)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Cysteamine

Approved, Investigational

Phase 4

60-23-1

6058

Acetylcysteine

Approved, Investigational

Phase 4

616-91-1

12035

Antioxidants

Phase 4

Expectorants

Phase 4

N-monoacetylcystine

Phase 4

Antidotes

Phase 4

Antiviral Agents

Phase 4

Free Radical Scavengers

Phase 4

Anti-Infective Agents

Phase 4,Phase 2,Phase 1

Respiratory System Agents

Phase 4

Protective Agents

Phase 4

Busulfan

Approved, Investigational

Phase 2, Phase 3

55-98-1

2478

Methylprednisolone hemisuccinate

Approved

Phase 2, Phase 3

2921-57-5

Methylprednisolone

Approved, Vet_approved

Phase 2, Phase 3

83-43-2

6741

Cyclophosphamide

Approved, Investigational

Phase 2, Phase 3

6055-19-2, 50-18-0

2907

Prednisolone phosphate

Approved, Vet_approved

Phase 2, Phase 3

302-25-0

Prednisolone

Approved, Vet_approved

Phase 2, Phase 3

50-24-8

5755

Prednisolone hemisuccinate

Experimental

Phase 2, Phase 3

2920-86-7

Antilymphocyte Serum

Phase 2, Phase 3

Antirheumatic Agents

Phase 2, Phase 3

Methylprednisolone Acetate

Phase 2, Phase 3

Immunologic Factors

Phase 2, Phase 3

Alkylating Agents

Phase 2, Phase 3

Immunosuppressive Agents

Phase 2, Phase 3

Antineoplastic Agents, Alkylating

Phase 2, Phase 3

Prednisolone acetate

Phase 2, Phase 3

Mycophenolic acid

Approved

Phase 2

24280-93-1

446541

Omeprazole

Approved, Investigational, Vet_approved

Phase 2

73590-58-6

4594

Anti-Bacterial Agents

Phase 2,Phase 1

Antibiotics, Antitubercular

Phase 2

Antitubercular Agents

Phase 2

Mitogens

Phase 1, Phase 2

Benzoyl peroxide

Approved

Phase 1

94-36-0

7187

Clindamycin

Approved, Vet_approved

Phase 1

18323-44-9

29029

Paclitaxel

Approved, Vet_approved

Phase 1

33069-62-4

36314

Carboplatin

Approved

Phase 1

41575-94-4

38904 10339178 498142

Clindamycin palmitate

Phase 1

Clindamycin phosphate

Phase 1

Dermatologic Agents

Phase 1

Antineoplastic Agents, Phytogenic

Phase 1

Antimitotic Agents

Phase 1

Albumin-Bound Paclitaxel

Phase 1

tyrosine

Phase 1

Protein Kinase Inhibitors

Phase 1

Erlotinib Hydrochloride

Phase 1

183319-69-9

176871

Immunoglobulin A

Phase 1

Immunoglobulins

Phase 1

Antibodies

Phase 1

Interventional clinical trials:

(show all 39)

#	Name	Status	NCT ID	Phase	Drugs
1	Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis	Completed	NCT00028262	Phase 4	Cystagon
2	Stem Cell Transplant for Inborn Errors of Metabolism	Completed	NCT00176904	Phase 2, Phase 3	Busulfan, Cyclophosphamide, Antithymocyte Globulin
3	Cellcept for Treatment of Juvenile Neuronal Ceroid Lipofuscinosis	Completed	NCT01399047	Phase 2	Mycophenolate mofetil;Liquid Placebo
4	A 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) Disease	Completed	NCT01907087	Phase 1, Phase 2
5	Gene Transfer Study of AAV9-CLN3 for Treatment NCL Type 3	Recruiting	NCT03770572	Phase 1, Phase 2
6	AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis	Active, not recruiting	NCT01414985	Phase 1, Phase 2
7	Batten CLN6 Gene Therapy	Active, not recruiting	NCT02725580	Phase 1, Phase 2	scAVV9.CB.CLN6
8	A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease	Active, not recruiting	NCT02485899	Phase 1, Phase 2
9	A Safety, Tolerability, and Efficacy Study of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease	Enrolling by invitation	NCT02678689	Phase 2
10	Safety and Efficacy of SNX-5422 in Human Epidermal Growth Factor Receptor 2 (HER2) Positive Cancers	Terminated	NCT01848756	Phase 1, Phase 2	SNX-5422
11	Study of HuCNS-SC Cells in Patients With Infantile or Late Infantile Neuronal Ceroid Lipofuscinosis (NCL)	Completed	NCT00337636	Phase 1	Medication to suppress the immune system
12	W0261-101: A Phase 1, Single Center, Randomized, Open-Label Study to Evaluate the Bioavailability of Clindamycin From Clindamycin 1%-Benzoyl Peroxide 3% Gel, Topical Gel (Clindamycin 1%- Benzoyl Peroxide 5%), and Once Daily Gel (Clindamycin 1%-Benzoyl Peroxide 5%) in Subjects With Acne	Completed	NCT01132443	Phase 1	Clindamycin 1%-Benzoyl Peroxide (BPO) 3% Gel,
13	Safety and Pharmacology of SNX-5422 Plus Carboplatin and Paclitaxel in Subjects With Solid Tumors	Completed	NCT01892046	Phase 1	SNX-5422
14	Safety and Pharmacology Study of SNX-5422 in Subjects With Resistant Lung Adenocarcinoma	Completed	NCT01851096	Phase 1	SNX-5422
15	Safety and Pharmacology Study of SNX-5422 in Subjects With Refractory Hematological Malignancies	Completed	NCT01635712	Phase 1	SNX-5422
16	Safety and Pharmacology Study of SNX-5422 in Subjects With Refractory Solid Tumor Malignancies	Completed	NCT01611623	Phase 1	SNX-5422
17	Effects of 2006-RD-05 on Salivary and Serum Immunoglobulin A (IgA) Levels in Healthy Subjects	Completed	NCT00906438	Phase 1
18	Safety And Pharmacology Of SNX-5422 Mesylate In Subjects With Refractory Hematological Malignancies	Completed	NCT00595686	Phase 1	SNX-5422
19	Safety And Pharmacology Study Of SNX-5422 Mesylate In Subjects With Refractory Solid Tumor Malignancies	Completed	NCT00506805	Phase 1	SNX-5422
20	UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells	Recruiting	NCT02254863	Phase 1
21	Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL)	Active, not recruiting	NCT01161576	Phase 1
22	Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis	Active, not recruiting	NCT00151216	Phase 1
23	Human Placental-Derived Stem Cell Transplantation	Active, not recruiting	NCT01586455	Phase 1	Human Placental Derived Stem Cell
24	Efficacy and Safety of SNX-5422 Added to an Established Dose of Ibrutinib in CLL	Terminated	NCT02973399	Phase 1	SNX-5422 plus ibrutinib
25	Safety and Efficacy Study of HuCNS-SC in Subjects With Neuronal Ceroid Lipofuscinosis	Withdrawn	NCT01238315	Phase 1
26	Safety and Activity of SNX-5422 Plus Ibrutinib in CLL	Withdrawn	NCT02914327	Phase 1	SNX-5422 plus ibrutinib
27	Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities	Completed	NCT01966757
28	Genotype - Phenotype Correlations of LINCL	Completed	NCT00151268
29	Clinical and Neuropsychological Investigations in Batten Disease	Recruiting	NCT01873924
30	Investigations of Juvenile Neuronal Ceroid Lipofuscinosis	Recruiting	NCT03307304
31	Natural History of Neuronal Ceroid Lipofuscinosis, Batten's CLN6 Diseae	Recruiting	NCT03285425
32	A Natural History Study of Late Infantile Variant CLN7 And CLN5 Disease	Recruiting	NCT03822650
33	Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease	Recruiting	NCT03862274
34	Genetic Characterization of Movement Disorders and Dementias	Recruiting	NCT02014246
35	Longitudinal Study of Neurodegenerative Disorders	Recruiting	NCT03333200
36	Inherited Retinal Degenerative Disease Registry	Recruiting	NCT02435940
37	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford	Recruiting	NCT01793168
38	Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis	Active, not recruiting	NCT01035424
39	Collection of Cerebrospinal Fluid in Healthy Children	Terminated	NCT01698229

Search NIH Clinical Center for Neuronal Ceroid-Lipofuscinoses

Cell-based therapeutics:

Data from LifeMap, the Embryonic Development and Stem Cells Database

Read about Neuronal Ceroid-Lipofuscinoses cell therapies at LifeMap Discovery.

Stem-cell-based therapeutic approaches for Neuronal Ceroid-Lipofuscinoses:

HuCNS-SC�, human central nervous system stem cells for neurological diseases

Embryonic/Adult Cultured Cells Related to Neuronal Ceroid-Lipofuscinoses:

Human neural stem cells (HuCNS-SC�) PMIDs: 16610769

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Genetic Tests for Neuronal Ceroid-Lipofuscinoses

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Anatomical Context for Neuronal Ceroid-Lipofuscinoses

MalaCards organs/tissues related to Neuronal Ceroid-Lipofuscinoses:

⁴²

Brain, Lung, Testes, Retina, Skin

Sources

Publications for Neuronal Ceroid-Lipofuscinoses

Articles related to Neuronal Ceroid-Lipofuscinoses:

(show top 50) (show all 203)

#	Title	Authors	Year
1	Emerging new roles of the lysosome and neuronal ceroid lipofuscinoses. ( 30651094 )	Mukherjee AB...Bagh MB	2019
2	Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses. ( 30877620 )	Kohlsch?tter A...Storch S	2019
3	Gene Therapy Approaches to Treat the Neurodegeneration and Visual Failure in Neuronal Ceroid Lipofuscinoses. ( 29721932 )	Kleine Holthaus S.M....Ali R.R.	2018
4	Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses. ( 29631617 )	Sima N....Zheng W.	2018
5	Progress in gene and cell therapies for the neuronal ceroid lipofuscinoses. ( 29936867 )	Donsante A....Boulis N.M.	2018
6	Computed tomography provides enhanced techniques for longitudinal monitoring of progressive intracranial volume loss associated with regional neurodegeneration in ovine neuronal ceroid lipofuscinoses. ( 30136763 )	Russell KN...Palmer DN	2018
7	Flupirtine derivatives as potential treatment for the neuronal ceroid lipofuscinoses. ( 30250865 )	Makoukji J...Boustany RM	2018
8	Neuronal Ceroid Lipofuscinoses: Connecting Calcium Signalling through Calmodulin. ( 30380624 )	Mathavarajah S...Huber RJ	2018
9	Gene Therapy of Adult Neuronal Ceroid Lipofuscinoses with CRISPR/Cas9 in Zebrafish. ( 28478735 )	Yao X....Wei Y.	2017
10	Induced Pluripotent Stem Cells Derived from a CLN5 Patient Manifest Phenotypic Characteristics of Neuronal Ceroid Lipofuscinoses. ( 28468312 )	Uusi-Rauva K....KyttAolAo A.	2017
11	Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. ( 28860089 )	Katz M.L....Narfstrom K.	2017
12	Pseudoperiodic electroencephalogram pattern in a child with late infantile neuronal ceroid lipofuscinoses with a novel CLN6 mutation. ( 27147172 )	Jain P....Aneja S.	2016
13	Correlation Among Genotype, Phenotype, and Histology in Neuronal Ceroid Lipofuscinoses: An Individual Patient Data Meta-Analysis. ( 27238410 )	Aungaroon G....Arya R.	2016
14	Neuronal ceroid lipofuscinoses. ( 27629553 )	Nita D.A....Minassian B.A.	2016
15	Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations. ( 26115733 )	Canafoglia L....Franceschetti S.	2015
16	The neuronal ceroid lipofuscinoses: Opportunities from model systems. ( 25937302 )	Faller K.M....Bond M.	2015
17	Progress in the Development of Small Molecule Therapeutics for the Treatment of Neuronal Ceroid Lipofuscinoses (NCLs). ( 26565590 )	Kinarivala N....Trippier P.C.	2015
18	Genetics of the neuronal ceroid lipofuscinoses (Batten disease). ( 26026925 )	Mole S.E....Cotman S.L.	2015
19	Juvenile neuronal ceroid lipofuscinoses (CLN3 Batten disease): what kind of epilepsy? ( 25523638 )	Williams R.	2015
20	The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina. ( 25976102 )	Kohan R....de Halac I.N.	2015
21	Experimental therapies in the neuronal ceroid lipofuscinoses. ( 25957554 )	Neverman N.J....Hughes S.M.	2015
22	Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder. ( 26117801 )	Cismondi I.A....de Halac I.N.	2015
23	Recent studies of ovine neuronal ceroid lipofuscinoses from BARN, the Batten Animal Research Network. ( 26073432 )	Palmer D.N....Mitchell N.L.	2015
24	Tandem mass spectrometry assays of palmitoyl protein thioesterase 1 and tripeptidyl peptidase activity in dried blood spots for the detection of neuronal ceroid lipofuscinoses in newborns. ( 25019629 )	Barcenas M....TureA8ek F.	2014
25	14th International Conference on Neuronal Ceroid Lipofuscinoses (Batten Disease) &amp; 2nd International Patients Organization Meeting Sheraton Hotel - CA^rdoba, Argentina October 22-26, 2014. ( 25350955 )		2014
26	Clinical, electrophysiological, imaging, and ultrastructural description in 68 patients with neuronal ceroid lipofuscinoses and its subtypes. ( 24120650 )	Jadav R.H....Satishchandra P.	2014
27	Deregulation of biometal homeostasis: the missing link for neuronal ceroid lipofuscinoses? ( 24804307 )	Grubman A....Kanninen K.M.	2014
28	The neuronal ceroid-lipofuscinoses: a historical introduction. ( 22959893 )	Haltia M....Goebel H.H.	2013
29	Bioinformatic perspectives in the neuronal ceroid lipofuscinoses. ( 23274885 )	Kmoch S....Mitchison H.M.	2013
30	The neuronal ceroid-lipofuscinoses. ( 23798013 )	Bennett M.J....Rakheja D.	2013
31	Classification and natural history of the neuronal ceroid lipofuscinoses. ( 23838030 )	Mink J.W....Kwon J.M.	2013
32	Seizure susceptibility, phenotype, and resultant growth delay in the nclf and mnd mouse models of neuronal ceroid lipofuscinoses. ( 23838029 )	Kriscenski-Perry E....Pearce D.A.	2013
33	Perioperative care of a patient with neuronal ceroid lipofuscinoses. ( 24015141 )	Kako H....Tobias J.D.	2013
34	Neuronal ceroid lipofuscinoses. ( 23622391 )	Chabrol B....Minassian B.	2013
35	A rare dementing disease: adult neuronal ceroid lipofuscinoses. ( 23224458 )	Babacan-Yildiz G....Kucuk O.S.	2012
36	New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. ( 22778232 )	WILLIAMS R.E....Mole S.E.	2012
37	Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses. ( 22245569 )	Chang X....Qin J.	2012
38	Clinico-investigative profile of infantile and late-infantile neuronal ceroid lipofuscinoses. ( 22824694 )	Kamate M....Hattiholi V.	2012
39	Mouse models of neuronal ceroid lipofuscinoses: useful pre-clinical tools to delineate disease pathophysiology and validate therapeutics. ( 22502604 )	Shacka J.J.	2012
40	Juvenile neuronal ceroid lipofuscinoses. ( 22411240 )	Wang S.	2012
41	Progressive myoclonus epilepsy: Unverricht-Lundborg disease and Neuronal ceroid lipofuscinoses ( 22787658 )	Noebels J.L....Delgado-Escueta A.V.	2012
42	A two-dimensional protein fragmentation-proteomic study of neuronal ceroid lipofuscinoses: identification and characterization of differentially expressed proteins. ( 21242110 )	Wang P....Zhong N.	2011
43	A metabolomic comparison of mouse models of the Neuronal Ceroid Lipofuscinoses. ( 21461951 )	Salek R.M....Griffin J.L.	2011
44	Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses. ( 21235444 )	Kohan R....de Halac N.I.	2011
45	The neuronal ceroid lipofuscinoses: the same, but different? ( 21118105 )	Cooper J.D.	2010
46	Neuronal ceroid lipofuscinoses. ( 19084560 )	Jalanko A....Braulke T.	2009
47	Funduscopic and angiographic appearance in the neuronal ceroid lipofuscinoses. ( 19289983 )	Hainsworth D.P....Katz M.L.	2009
48	Neuropeptide changes and neuroactive amino acids in CSF from humans and sheep with neuronal ceroid lipofuscinoses (NCLs, Batten disease). ( 19664668 )	Kay G.W....Palmer D.N.	2009
49	Towards understanding the neuronal ceroid lipofuscinoses. ( 19195801 )	KohlschA1tter A....Schulz A.	2009
50	Treatment of lysosomal storage disorders: focus on the neuronal ceroid-lipofuscinoses. ( 18668166 )	Pierret C....Kirk M.D.	2008

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Genes for Neuronal Ceroid-Lipofuscinoses

Genes related to Neuronal Ceroid-Lipofuscinoses (0 elite genes):

(show all 19)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CLN5	CLN5 Intracellular Trafficking Protein	Protein Coding	50.24	Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Summaries (show sections)	10992246 16839750 18850119 (more) 19084560 19177532 19431184
2	CLN3	CLN3 Lysosomal/Endosomal Transmembrane Protein, Battenin	Protein Coding	50.21	Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Summaries (show sections)	15032383 11001812 17896996 (more) 18552385 14644441 17475770
3	CLN6	CLN6 Transmembrane ER Protein	Protein Coding	49.97	Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Summaries (show sections)	19431184
4	CLN8	CLN8 Transmembrane ER And ERGIC Protein	Protein Coding	49.68	Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Summaries (show sections)	19431184 10508524 15629147
5	PPT1	Palmitoyl-Protein Thioesterase 1	Protein Coding	40.19	Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications (show sections)	10992246 15719035 11001812 (more) 19431184 10649502
6	TPP1	Tripeptidyl Peptidase 1	Protein Coding	40.09	Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications (show sections)	10428067 15719035 16869297 (more) 10191110 11001812 19431184 15733845 18552385 11589013 16895480
7	MFSD8	Major Facilitator Superfamily Domain Containing 8	Protein Coding	37.32	GeneCards inferred via : Disorders Publications Summaries (show sections)
8	CTSD	Cathepsin D	Protein Coding	34.82	Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications (show sections)	18091563 17495518 16670177 (more) 15837574
9	PSAP	Prosaposin	Protein Coding	24.76	Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	8370464
10	CTSF	Cathepsin F	Protein Coding	18.18	GeneCards inferred via : Disorders (show sections)
11	GRN	Granulin Precursor	Protein Coding	18.18	GeneCards inferred via : Disorders (show sections)
12	DNAJC5	DnaJ Heat Shock Protein Family (Hsp40) Member C5	Protein Coding	18.18	GeneCards inferred via : Disorders (show sections)
13	GFAP	Glial Fibrillary Acidic Protein	Protein Coding	17.31	GeneCards inferred via : Publications (show sections)
14	BAMBI	BMP And Activin Membrane Bound Inhibitor	Protein Coding	17.31	GeneCards inferred via : Publications (show sections)
15	S100B	S100 Calcium Binding Protein B	Protein Coding	17.31	GeneCards inferred via : Publications (show sections)
16	SLC1A3	Solute Carrier Family 1 Member 3	Protein Coding	17.31	GeneCards inferred via : Publications (show sections)
17	MBP	Myelin Basic Protein	Protein Coding	17.31	GeneCards inferred via : Publications (show sections)
18	CALB2	Calbindin 2	Protein Coding	7.31	GeneCards inferred via : Publications (show sections)
19	PVALB	Parvalbumin	Protein Coding	7.31	GeneCards inferred via : Publications (show sections)

Sources

Variations for Neuronal Ceroid-Lipofuscinoses

Sources

Expression for Neuronal Ceroid-Lipofuscinoses

Search GEO for disease gene expression data for Neuronal Ceroid-Lipofuscinoses.

Sources

Pathways for Neuronal Ceroid-Lipofuscinoses

Pathways related to Neuronal Ceroid-Lipofuscinoses according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Neuroscience ⁴	11.99	GFAP MBP S100B SLC1A3
2	Lysosome ³⁸	11.32	CLN3 CLN5 CTSD CTSF MFSD8 PPT1
3	Neural Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁶	11.03	GFAP S100B SLC1A3

Sources

GO Terms for Neuronal Ceroid-Lipofuscinoses

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

#	Name	GO ID	Score	Top Affiliating Genes
1	neuron projection	GO:0043005	9.71	CALB2 CLN3 PPT1 SLC1A3
2	neuronal cell body	GO:0043025	9.65	MBP PPT1 PVALB S100B SLC1A3
3	lysosomal membrane	GO:0005765	9.55	CLN3 CLN5 DNAJC5 MFSD8 PSAP
4	synaptic vesicle	GO:0008021	9.54	CLN3 DNAJC5 PPT1
5	melanosome	GO:0042470	9.5	CTSD DNAJC5 TPP1
6	lysosomal lumen	GO:0043202	9.35	CTSD CTSF PPT1 PSAP TPP1
7	lysosome	GO:0005764	9.32	CLN3 CLN5 CTSD CTSF GFAP GRN

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of neuron apoptotic process	GO:0043524	9.67	CLN3 DNAJC5 PPT1
2	regulation of cytosolic calcium ion concentration	GO:0051480	9.58	CALB2 CLN3 PVALB
3	negative regulation of proteolysis	GO:0045861	9.51	CLN3 CLN8
4	neuromuscular process controlling balance	GO:0050885	9.5	CLN3 SLC1A3 TPP1
5	ceramide metabolic process	GO:0006672	9.48	CLN3 CLN8
6	positive regulation of synaptic transmission	GO:0050806	9.46	S100B SLC1A3
7	lysosomal lumen acidification	GO:0007042	9.46	CLN3 CLN5 CLN6 PPT1
8	associative learning	GO:0008306	9.37	CLN3 PPT1
9	lysosome organization	GO:0007040	9.35	CLN3 CLN6 MFSD8 PPT1 TPP1
10	cellular macromolecule catabolic process	GO:0044265	9.26	CLN6 PPT1
11	protein catabolic process	GO:0030163	9.17	CLN3 CLN5 CLN6 CLN8 CTSD PPT1
12	cellular protein catabolic process	GO:0044257	9.13	PPT1

Sources

Sources for Neuronal Ceroid-Lipofuscinoses

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia