MCID: NRN005
MIFTS: 44

Neuronal Ceroid-Lipofuscinoses

Categories: Neuronal diseases

Aliases & Classifications for Neuronal Ceroid-Lipofuscinoses

MalaCards integrated aliases for Neuronal Ceroid-Lipofuscinoses:

Name: Neuronal Ceroid-Lipofuscinoses 41 24 38 73
Neuronal Ceroid-Lipofuscinosis, Infantile 41 38
Juvenile Neuronal Ceroid Lipofuscinosis 73
Neuronal Ceroid Lipofuscinoses 55
Batten Disease 24

Classifications:



External Ids:

UMLS 73 C0751383

Summaries for Neuronal Ceroid-Lipofuscinoses

MalaCards based summary : Neuronal Ceroid-Lipofuscinoses, also known as neuronal ceroid-lipofuscinosis, infantile, is related to ceroid lipofuscinosis, neuronal, 10 and ceroid lipofuscinosis, neuronal, 9, and has symptoms including myoclonus, seizures 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 Acetylcysteine and Cysteamine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and retina, and related phenotypes are behavior/neurological and mortality/aging

GeneReviews: NBK1428

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 63)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 10 32.8 CLN3 CLN5 CLN6 CLN8 CTSD
2 ceroid lipofuscinosis, neuronal, 9 32.5 CLN5 CLN6 CLN8 MFSD8
3 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 32.5 CLN5 CLN6 CLN8 MFSD8
4 ceroid lipofuscinosis, neuronal, 13 32.2 CLN5 CLN8 CTSF DNAJC5
5 ceroid lipofuscinosis, neuronal, 7 31.8 CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1
6 ceroid storage disease 31.4 CLN3 CLN5 CLN6 CLN8 DNAJC5 PPT1
7 ceroid lipofuscinosis, neuronal, 3 31.3 BAMBI CLN3 CLN5 CTSD PPT1 TPP1
8 lysosomal storage disease 31.1 CLN3 PPT1 TPP1
9 ceroid lipofuscinosis, neuronal, 1 30.8 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
10 ceroid lipofuscinosis, neuronal, 2 30.0 CLN3 CLN5 CLN6 CLN8 CTSD CTSF
11 ceroid lipofuscinosis, neuronal, 11 29.6 CLN3 CLN5 CLN6 CLN8 CTSD CTSF
12 neuronal ceroid lipofuscinosis 29.0 CLN3 CLN5 CLN6 CLN8 CTSD CTSF
13 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 11.4
14 ceroid lipofuscinosis, neuronal, 5 11.4
15 ceroid lipofuscinosis, neuronal, 8 11.4
16 ceroid lipofuscinosis, neuronal, 6 11.4
17 neuronitis 11.3
18 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 11.3
19 visual pathway disease 10.7 CLN8 MFSD8
20 visual cortex disease 10.7 CLN8 MFSD8
21 inclusion-cell disease 10.6 CTSD PSAP
22 cerebral atrophy 10.6 CLN6 CLN8 DNAJC5
23 epilepsy 10.3
24 intracranial cysts 10.3 GFAP S100B
25 gemistocytic astrocytoma 10.3 GFAP S100B
26 chordoid meningioma 10.3 GFAP S100B
27 rosai-dorfman disease 10.3 CTSD S100B
28 syringocystadenoma papilliferum 10.3 GFAP S100B
29 dysembryoplastic neuroepithelial tumor 10.2 GFAP S100B
30 spindle cell rhabdomyosarcoma 10.2 GFAP S100B
31 myxopapillary ependymoma 10.2 GFAP S100B
32 chiari malformation 10.2 GFAP MBP
33 chordoid glioma 10.2 GFAP S100B
34 aging 10.2
35 dementia 10.2
36 hermansky-pudlak syndrome 10.2
37 movement disease 10.2
38 progressive myoclonus epilepsy 10.2
39 myoclonus epilepsy 10.2
40 myoclonus 10.2
41 melanotic neuroectodermal tumor 10.2 GFAP S100B
42 syringoma 10.1 GFAP S100B
43 angiocentric glioma 10.1 GFAP S100B
44 wernicke encephalopathy 10.1 GFAP SLC1A3
45 pineocytoma 10.1 GFAP S100B
46 anaplastic ependymoma 10.0 GFAP S100B
47 papillary ependymoma 10.0 GFAP S100B
48 perineurioma 9.9 GFAP S100B
49 adult neuronal ceroid lipofuscinosis 9.9 CLN6 DNAJC5 PPT1 PSAP TPP1
50 central nervous system disease 9.8 GFAP GRN MBP

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



Diseases related to Neuronal Ceroid-Lipofuscinoses

Symptoms & Phenotypes for Neuronal Ceroid-Lipofuscinoses

UMLS symptoms related to Neuronal Ceroid-Lipofuscinoses:


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

MGI Mouse Phenotypes related to Neuronal Ceroid-Lipofuscinoses:

46
# 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 MBP PPT1 PSAP S100B SLC1A3 TPP1
5 nervous system MP:0003631 9.89 MBP MFSD8 PPT1 PSAP PVALB SLC1A3
6 muscle MP:0005369 9.7 DNAJC5 GFAP MFSD8 PPT1 PSAP PVALB
7 vision/eye MP:0005391 9.44 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5

Drugs & Therapeutics for Neuronal Ceroid-Lipofuscinoses

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

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
2
Cysteamine Approved, Investigational Phase 4 60-23-1 6058
3 Antidotes Phase 4
4 Anti-Infective Agents Phase 4,Phase 2
5 Antioxidants Phase 4
6 Antiviral Agents Phase 4
7 Expectorants Phase 4
8 N-monoacetylcystine Phase 4
9 Protective Agents Phase 4
10 Respiratory System Agents Phase 4
11
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
12
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
13
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
14
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
15 Alkylating Agents Phase 2, Phase 3
16 Antilymphocyte Serum Phase 2, Phase 3
17 Antineoplastic Agents, Alkylating Phase 2, Phase 3
18 Antirheumatic Agents Phase 2, Phase 3
19 Immunosuppressive Agents Phase 2, Phase 3
20 Methylprednisolone acetate Phase 2, Phase 3
21 Methylprednisolone Hemisuccinate Phase 2, Phase 3
22 Prednisolone acetate Phase 2, Phase 3
23 Prednisolone hemisuccinate Phase 2, Phase 3
24 Prednisolone phosphate Phase 2, Phase 3
25
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
26
Mycophenolic acid Approved Phase 2 24280-93-1 446541
27
Omeprazole Approved, Investigational, Vet_approved Phase 2 73590-58-6 4594
28 Anti-Bacterial Agents Phase 2
29 Antibiotics, Antitubercular Phase 2
30 Antitubercular Agents Phase 2
31
Menthol Approved Phase 1 2216-51-5 16666

Interventional clinical trials:

(show all 25)
# 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 Batten CLN6 Gene Therapy Recruiting NCT02725580 Phase 1, Phase 2 scAVV9.CB.CLN6
6 AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT01414985 Phase 1, Phase 2
7 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
8 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
9 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
10 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
11 Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) Active, not recruiting NCT01161576 Phase 1
12 Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT00151216 Phase 1
13 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
14 Safety and Efficacy Study of HuCNS-SC in Subjects With Neuronal Ceroid Lipofuscinosis Withdrawn NCT01238315 Phase 1
15 Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities Completed NCT01966757
16 Genotype - Phenotype Correlations of LINCL Completed NCT00151268
17 Clinical and Neuropsychological Investigations in Batten Disease Recruiting NCT01873924
18 Investigations of Juvenile Neuronal Ceroid Lipofuscinosis Recruiting NCT03307304
19 Natural History of Neuronal Ceroid Lipofuscinosis, Batten's CLN6 Diseae Recruiting NCT03285425
20 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
21 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
22 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
23 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
24 Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT01035424
25 Collection of Cerebrospinal Fluid in Healthy Children Terminated NCT01698229

Search NIH Clinical Center for Neuronal Ceroid-Lipofuscinoses

Cell-based therapeutics:


LifeMap Discovery
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
Embryonic/Adult Cultured Cells Related to Neuronal Ceroid-Lipofuscinoses:
Human neural stem cells (HuCNS-SC PMIDs: 16610769

Genetic Tests for Neuronal Ceroid-Lipofuscinoses

Anatomical Context for Neuronal Ceroid-Lipofuscinoses

MalaCards organs/tissues related to Neuronal Ceroid-Lipofuscinoses:

41
Brain, Testes, Retina, Skin

Publications for Neuronal Ceroid-Lipofuscinoses

Articles related to Neuronal Ceroid-Lipofuscinoses:

(show top 50) (show all 201)
# Title Authors Year
1
Gene Therapy Approaches to Treat the Neurodegeneration and Visual Failure in Neuronal Ceroid Lipofuscinoses. ( 29721932 )
2018
2
Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses. ( 29631617 )
2018
3
Progress in gene and cell therapies for the neuronal ceroid lipofuscinoses. ( 29936867 )
2018
4
Gene Therapy of Adult Neuronal Ceroid Lipofuscinoses with CRISPR/Cas9 in Zebrafish. ( 28478735 )
2017
5
Induced Pluripotent Stem Cells Derived from a CLN5 Patient Manifest Phenotypic Characteristics of Neuronal Ceroid Lipofuscinoses. ( 28468312 )
2017
6
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. ( 28860089 )
2017
7
Pseudoperiodic electroencephalogram pattern in a child with late infantile neuronal ceroid lipofuscinoses with a novel CLN6 mutation. ( 27147172 )
2016
8
Correlation Among Genotype, Phenotype, and Histology in Neuronal Ceroid Lipofuscinoses: An Individual Patient Data Meta-Analysis. ( 27238410 )
2016
9
Neuronal ceroid lipofuscinoses. ( 27629553 )
2016
10
Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations. ( 26115733 )
2015
11
The neuronal ceroid lipofuscinoses: Opportunities from model systems. ( 25937302 )
2015
12
Progress in the Development of Small Molecule Therapeutics for the Treatment of Neuronal Ceroid Lipofuscinoses (NCLs). ( 26565590 )
2015
13
Genetics of the neuronal ceroid lipofuscinoses (Batten disease). ( 26026925 )
2015
14
Juvenile neuronal ceroid lipofuscinoses (CLN3 Batten disease): what kind of epilepsy? ( 25523638 )
2015
15
The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina. ( 25976102 )
2015
16
Experimental therapies in the neuronal ceroid lipofuscinoses. ( 25957554 )
2015
17
Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder. ( 26117801 )
2015
18
Recent studies of ovine neuronal ceroid lipofuscinoses from BARN, the Batten Animal Research Network. ( 26073432 )
2015
19
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 )
2014
20
14th International Conference on Neuronal Ceroid Lipofuscinoses (Batten Disease) &amp;amp; 2nd International Patients Organization Meeting Sheraton Hotel - CA^rdoba, Argentina October 22-26, 2014. ( 25350955 )
2014
21
Clinical, electrophysiological, imaging, and ultrastructural description in 68 patients with neuronal ceroid lipofuscinoses and its subtypes. ( 24120650 )
2014
22
Deregulation of biometal homeostasis: the missing link for neuronal ceroid lipofuscinoses? ( 24804307 )
2014
23
The neuronal ceroid-lipofuscinoses: a historical introduction. ( 22959893 )
2013
24
Bioinformatic perspectives in the neuronal ceroid lipofuscinoses. ( 23274885 )
2013
25
The neuronal ceroid-lipofuscinoses. ( 23798013 )
2013
26
Classification and natural history of the neuronal ceroid lipofuscinoses. ( 23838030 )
2013
27
Seizure susceptibility, phenotype, and resultant growth delay in the nclf and mnd mouse models of neuronal ceroid lipofuscinoses. ( 23838029 )
2013
28
Perioperative care of a patient with neuronal ceroid lipofuscinoses. ( 24015141 )
2013
29
Neuronal ceroid lipofuscinoses. ( 23622391 )
2013
30
A rare dementing disease: adult neuronal ceroid lipofuscinoses. ( 23224458 )
2012
31
New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. ( 22778232 )
2012
32
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. ( 21990111 )
2012
33
Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses. ( 22245569 )
2012
34
Clinico-investigative profile of infantile and late-infantile neuronal ceroid lipofuscinoses. ( 22824694 )
2012
35
Mouse models of neuronal ceroid lipofuscinoses: useful pre-clinical tools to delineate disease pathophysiology and validate therapeutics. ( 22502604 )
2012
36
Juvenile neuronal ceroid lipofuscinoses. ( 22411240 )
2012
37
Progressive myoclonus epilepsy: Unverricht-Lundborg disease and Neuronal ceroid lipofuscinoses ( 22787658 )
2012
38
A two-dimensional protein fragmentation-proteomic study of neuronal ceroid lipofuscinoses: identification and characterization of differentially expressed proteins. ( 21242110 )
2011
39
A metabolomic comparison of mouse models of the Neuronal Ceroid Lipofuscinoses. ( 21461951 )
2011
40
Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses. ( 21235444 )
2011
41
The neuronal ceroid lipofuscinoses: the same, but different? ( 21118105 )
2010
42
Neuronal ceroid lipofuscinoses. ( 19084560 )
2009
43
Funduscopic and angiographic appearance in the neuronal ceroid lipofuscinoses. ( 19289983 )
2009
44
Neuropeptide changes and neuroactive amino acids in CSF from humans and sheep with neuronal ceroid lipofuscinoses (NCLs, Batten disease). ( 19664668 )
2009
45
Towards understanding the neuronal ceroid lipofuscinoses. ( 19195801 )
2009
46
Treatment of lysosomal storage disorders: focus on the neuronal ceroid-lipofuscinoses. ( 18668166 )
2008
47
Diagnosis of the neuronal ceroid lipofuscinoses: an update. ( 16930952 )
2006
48
Occurrence of and mortality from childhood neuronal ceroid lipofuscinoses in norway. ( 17092455 )
2006
49
Mechanisms of neurodegeneration in neuronal ceroid-lipofuscinoses. ( 16465529 )
2006
50
Neuronal ceroid lipofuscinoses (NCL). ( 17035052 )
2006

Variations for Neuronal Ceroid-Lipofuscinoses

Expression for Neuronal Ceroid-Lipofuscinoses

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

Pathways for Neuronal Ceroid-Lipofuscinoses

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

# Super pathways Score Top Affiliating Genes
1 11.99 GFAP MBP S100B SLC1A3
2 11.32 CLN3 CLN5 CTSD CTSF MFSD8 PPT1
3 11.03 GFAP S100B SLC1A3

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 neuronal cell body GO:0043025 9.65 MBP PPT1 PVALB S100B SLC1A3
2 synaptic vesicle GO:0008021 9.61 CLN3 DNAJC5 PPT1
3 lysosomal membrane GO:0005765 9.55 CLN3 CLN5 DNAJC5 MFSD8 PSAP
4 melanosome GO:0042470 9.54 CTSD DNAJC5 TPP1
5 terminal bouton GO:0043195 9.5 CALB2 DNAJC5 PVALB
6 lysosomal lumen GO:0043202 9.35 CTSD CTSF PPT1 PSAP TPP1
7 lysosome GO:0005764 9.32 CLN3 CLN5 CTSD CTSF GFAP GRN
8 extracellular exosome GO:0070062 10.06 CLN5 CTSD CTSF DNAJC5 GRN PPT1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.65 CLN3 DNAJC5 PPT1
2 central nervous system development GO:0007417 9.63 MBP S100B TPP1
3 lysosome organization GO:0007040 9.55 CLN3 CLN6 MFSD8 PPT1 TPP1
4 neuromuscular process controlling balance GO:0050885 9.54 CLN3 SLC1A3 TPP1
5 regulation of cytosolic calcium ion concentration GO:0051480 9.5 CALB2 CLN3 PVALB
6 negative regulation of proteolysis GO:0045861 9.49 CLN3 CLN8
7 ceramide metabolic process GO:0006672 9.43 CLN3 CLN8
8 positive regulation of synaptic transmission GO:0050806 9.4 S100B SLC1A3
9 cellular macromolecule catabolic process GO:0044265 9.26 CLN6 PPT1
10 lysosomal lumen acidification GO:0007042 9.26 CLN3 CLN5 CLN6 PPT1
11 protein catabolic process GO:0030163 9.17 CLN3 CLN5 CLN6 CLN8 CTSD PPT1

Sources for Neuronal Ceroid-Lipofuscinoses

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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