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MCID: NRN005
MIFTS: 45

Neuronal Ceroid-Lipofuscinoses

Categories: Neuronal diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Neuronal Ceroid-Lipofuscinoses

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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:

MalaCards categories:
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)


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Summaries for Neuronal Ceroid-Lipofuscinoses

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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, testes and retina, and related phenotypes are Decreased viability and Decreased viability

GeneReviews: NBK1428
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Related Diseases for Neuronal Ceroid-Lipofuscinoses

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

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 32.3 CLN5 CLN6 CLN8 MFSD8
2 ceroid lipofuscinosis, neuronal, 9 32.3 CLN5 CLN6 CLN8 DNAJC5
3 ceroid lipofuscinosis, neuronal, 7 32.2 CLN3 CLN5 CLN6 CLN8 DNAJC5 MFSD8
4 ceroid lipofuscinosis, neuronal, 10 32.2 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
5 ceroid lipofuscinosis, neuronal, 13 32.2 CLN5 CLN8 CTSF DNAJC5
6 ceroid lipofuscinosis, neuronal, 3 32.2 BAMBI CLN3 CLN5 CLN6 CTSD PPT1
7 ceroid storage disease 32.1 CLN3 CLN5 CLN6 CLN8 DNAJC5 PPT1
8 ceroid lipofuscinosis, neuronal, 1 32.1 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
9 ceroid lipofuscinosis, neuronal, 2 31.7 CLN3 CLN5 CLN6 CLN8 CTSD CTSF
10 neuronal ceroid lipofuscinosis 31.5 CLN3 CLN5 CLN6 CLN8 CTSD CTSF
11 ceroid lipofuscinosis, neuronal, 11 31.4 CLN3 CLN5 CLN6 CLN8 CTSD CTSF
12 amyotrophic lateral sclerosis 1 29.1 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 neuroaxonal dystrophy 10.3
27 cerebral atrophy 10.2 CLN6 MFSD8
28 visual cortex disease 10.2 CLN8 MFSD8
29 visual pathway disease 10.2 CLN8 MFSD8
30 inclusion-cell disease 10.2 CTSD PSAP
31 lysosomal storage disease 10.2 CLN3 PPT1 TPP1
32 ideomotor apraxia 10.1 GRN MBP
33 chiari malformation 10.1 GFAP MBP
34 intracranial cysts 10.1 GFAP S100B
35 gemistocytic astrocytoma 10.0 GFAP S100B
36 syringocystadenoma papilliferum 10.0 GFAP S100B
37 chordoid meningioma 10.0 GFAP S100B
38 dysembryoplastic neuroepithelial tumor 10.0 GFAP S100B
39 spindle cell rhabdomyosarcoma 10.0 GFAP S100B
40 myxopapillary ependymoma 10.0 GFAP S100B
41 papillary ependymoma 10.0 GFAP S100B
42 wernicke encephalopathy 10.0 GFAP SLC1A3
43 chordoid glioma 10.0 GFAP S100B
44 syringoma 10.0 GFAP S100B
45 angiocentric glioma 10.0 GFAP S100B
46 pineocytoma 10.0 GFAP S100B
47 rosai-dorfman disease 10.0 CTSD S100B
48 adult neuronal ceroid lipofuscinosis 10.0 CLN6 DNAJC5 PPT1 PSAP TPP1
49 anaplastic ependymoma 9.9 GFAP S100B
50 huntington disease 9.9

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



Diseases related to Neuronal Ceroid-Lipofuscinoses
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Symptoms & Phenotypes for Neuronal Ceroid-Lipofuscinoses

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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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 10 PVALB
2 Decreased viability GR00381-A-1 10 GFAP PVALB
3 Decreased viability GR00402-S-2 10 BAMBI CALB2 CLN3 CLN5 CLN6 CLN8
4 no effect GR00402-S-1 9.6 BAMBI CALB2 CLN3 CLN5 CLN6 CLN8

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 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

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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
Cysteamine Approved, Investigational Phase 4 60-23-1 6058
2
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
3 Antioxidants Phase 4
4 Expectorants Phase 4
5 N-monoacetylcystine Phase 4
6 Antidotes Phase 4
7 Antiviral Agents Phase 4
8 Free Radical Scavengers Phase 4
9 Anti-Infective Agents Phase 4,Phase 2
10 Respiratory System Agents Phase 4
11 Protective Agents Phase 4
12
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
13
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
14
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
15
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 6055-19-2, 50-18-0 2907
16
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
17
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
18
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
19 Antilymphocyte Serum Phase 2, Phase 3
20 Antirheumatic Agents Phase 2, Phase 3
21 Methylprednisolone acetate Phase 2, Phase 3
22 Immunologic Factors Phase 2, Phase 3
23 Alkylating Agents Phase 2, Phase 3
24 Immunosuppressive Agents Phase 2, Phase 3
25 Antineoplastic Agents, Alkylating Phase 2, Phase 3
26 Prednisolone acetate Phase 2, Phase 3
27
Mycophenolic acid Approved Phase 2 24280-93-1 446541
28
Omeprazole Approved, Investigational, Vet_approved Phase 2 73590-58-6 4594
29 Anti-Bacterial Agents Phase 2
30 Antibiotics, Antitubercular Phase 2
31 Antitubercular Agents Phase 2

Interventional clinical trials:

(show all 26)
# 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 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
11 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
12 Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) Active, not recruiting NCT01161576 Phase 1
13 Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT00151216 Phase 1
14 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
15 Safety and Efficacy Study of HuCNS-SC in Subjects With Neuronal Ceroid Lipofuscinosis Withdrawn NCT01238315 Phase 1
16 Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities Completed NCT01966757
17 Genotype - Phenotype Correlations of LINCL Completed NCT00151268
18 Clinical and Neuropsychological Investigations in Batten Disease Recruiting NCT01873924
19 Investigations of Juvenile Neuronal Ceroid Lipofuscinosis Recruiting NCT03307304
20 Natural History of Neuronal Ceroid Lipofuscinosis, Batten's CLN6 Diseae Recruiting NCT03285425
21 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
22 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
23 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
24 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
25 Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT01035424
26 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�, 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

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MalaCards organs/tissues related to Neuronal Ceroid-Lipofuscinoses:

41
Brain, Testes, Retina, Skin, Ovary, Cortex, Temporal Lobe
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Publications for Neuronal Ceroid-Lipofuscinoses

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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
Computed tomography provides enhanced techniques for longitudinal monitoring of progressive intracranial volume loss associated with regional neurodegeneration in ovine neuronal ceroid lipofuscinoses. ( 30136763 )
2018
5
Flupirtine derivatives as potential treatment for the neuronal ceroid lipofuscinoses. ( 30250865 )
2018
6
Neuronal Ceroid Lipofuscinoses: Connecting Calcium Signalling through Calmodulin. ( 30380624 )
2018
7
Gene Therapy of Adult Neuronal Ceroid Lipofuscinoses with CRISPR/Cas9 in Zebrafish. ( 28478735 )
2017
8
Induced Pluripotent Stem Cells Derived from a CLN5 Patient Manifest Phenotypic Characteristics of Neuronal Ceroid Lipofuscinoses. ( 28468312 )
2017
9
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. ( 28860089 )
2017
10
Pseudoperiodic electroencephalogram pattern in a child with late infantile neuronal ceroid lipofuscinoses with a novel CLN6 mutation. ( 27147172 )
2016
11
Correlation Among Genotype, Phenotype, and Histology in Neuronal Ceroid Lipofuscinoses: An Individual Patient Data Meta-Analysis. ( 27238410 )
2016
12
Neuronal ceroid lipofuscinoses. ( 27629553 )
2016
13
Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations. ( 26115733 )
2015
14
The neuronal ceroid lipofuscinoses: Opportunities from model systems. ( 25937302 )
2015
15
Progress in the Development of Small Molecule Therapeutics for the Treatment of Neuronal Ceroid Lipofuscinoses (NCLs). ( 26565590 )
2015
16
Genetics of the neuronal ceroid lipofuscinoses (Batten disease). ( 26026925 )
2015
17
Juvenile neuronal ceroid lipofuscinoses (CLN3 Batten disease): what kind of epilepsy? ( 25523638 )
2015
18
The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina. ( 25976102 )
2015
19
Experimental therapies in the neuronal ceroid lipofuscinoses. ( 25957554 )
2015
20
Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder. ( 26117801 )
2015
21
Recent studies of ovine neuronal ceroid lipofuscinoses from BARN, the Batten Animal Research Network. ( 26073432 )
2015
22
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
23
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
24
Clinical, electrophysiological, imaging, and ultrastructural description in 68 patients with neuronal ceroid lipofuscinoses and its subtypes. ( 24120650 )
2014
25
Deregulation of biometal homeostasis: the missing link for neuronal ceroid lipofuscinoses? ( 24804307 )
2014
26
The neuronal ceroid-lipofuscinoses: a historical introduction. ( 22959893 )
2013
27
Bioinformatic perspectives in the neuronal ceroid lipofuscinoses. ( 23274885 )
2013
28
The neuronal ceroid-lipofuscinoses. ( 23798013 )
2013
29
Classification and natural history of the neuronal ceroid lipofuscinoses. ( 23838030 )
2013
30
Seizure susceptibility, phenotype, and resultant growth delay in the nclf and mnd mouse models of neuronal ceroid lipofuscinoses. ( 23838029 )
2013
31
Perioperative care of a patient with neuronal ceroid lipofuscinoses. ( 24015141 )
2013
32
Neuronal ceroid lipofuscinoses. ( 23622391 )
2013
33
A rare dementing disease: adult neuronal ceroid lipofuscinoses. ( 23224458 )
2012
34
New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. ( 22778232 )
2012
35
Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses. ( 22245569 )
2012
36
Clinico-investigative profile of infantile and late-infantile neuronal ceroid lipofuscinoses. ( 22824694 )
2012
37
Mouse models of neuronal ceroid lipofuscinoses: useful pre-clinical tools to delineate disease pathophysiology and validate therapeutics. ( 22502604 )
2012
38
Juvenile neuronal ceroid lipofuscinoses. ( 22411240 )
2012
39
Progressive myoclonus epilepsy: Unverricht-Lundborg disease and Neuronal ceroid lipofuscinoses ( 22787658 )
2012
40
A two-dimensional protein fragmentation-proteomic study of neuronal ceroid lipofuscinoses: identification and characterization of differentially expressed proteins. ( 21242110 )
2011
41
A metabolomic comparison of mouse models of the Neuronal Ceroid Lipofuscinoses. ( 21461951 )
2011
42
Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses. ( 21235444 )
2011
43
The neuronal ceroid lipofuscinoses: the same, but different? ( 21118105 )
2010
44
Neuronal ceroid lipofuscinoses. ( 19084560 )
2009
45
Funduscopic and angiographic appearance in the neuronal ceroid lipofuscinoses. ( 19289983 )
2009
46
Neuropeptide changes and neuroactive amino acids in CSF from humans and sheep with neuronal ceroid lipofuscinoses (NCLs, Batten disease). ( 19664668 )
2009
47
Towards understanding the neuronal ceroid lipofuscinoses. ( 19195801 )
2009
48
Treatment of lysosomal storage disorders: focus on the neuronal ceroid-lipofuscinoses. ( 18668166 )
2008
49
Diagnosis of the neuronal ceroid lipofuscinoses: an update. ( 16930952 )
2006
50
Occurrence of and mortality from childhood neuronal ceroid lipofuscinoses in norway. ( 17092455 )
2006
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Variations for Neuronal Ceroid-Lipofuscinoses

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Expression for Neuronal Ceroid-Lipofuscinoses

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

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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 37
11.32 CLN3 CLN5 CTSD CTSF MFSD8 PPT1
3
Neural Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.03 GFAP S100B SLC1A3
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GO Terms for Neuronal Ceroid-Lipofuscinoses

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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 neuromuscular process controlling balance GO:0050885 9.62 CLN3 CLN8 SLC1A3 TPP1
3 regulation of cytosolic calcium ion concentration GO:0051480 9.58 CALB2 CLN3 PVALB
4 associative learning GO:0008306 9.54 CLN3 CLN8 PPT1
5 negative regulation of proteolysis GO:0045861 9.51 CLN3 CLN8
6 ceramide metabolic process GO:0006672 9.48 CLN3 CLN8
7 positive regulation of synaptic transmission GO:0050806 9.46 S100B SLC1A3
8 lysosomal lumen acidification GO:0007042 9.46 CLN3 CLN5 CLN6 PPT1
9 cellular protein catabolic process GO:0044257 9.43 CLN8 PPT1
10 cellular macromolecule catabolic process GO:0044265 9.43 CLN6 CLN8 PPT1
11 lysosome organization GO:0007040 9.43 CLN3 CLN6 CLN8 MFSD8 PPT1 TPP1
12 protein catabolic process GO:0030163 9.17 CLN3 CLN5 CLN6 CLN8 CTSD PPT1
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Sources for Neuronal Ceroid-Lipofuscinoses

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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