Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: NRN005
MIFTS: 46

Neuronal Ceroid-Lipofuscinoses

Categories: Neuronal diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Neuronal Ceroid-Lipofuscinoses

About this section

MalaCards integrated aliases for Neuronal Ceroid-Lipofuscinoses:

Name: Neuronal Ceroid-Lipofuscinoses 42 39 74
Neuronal Ceroid-Lipofuscinosis, Infantile 42 39
Juvenile Neuronal Ceroid Lipofuscinosis 74
Neuronal Ceroid Lipofuscinoses 56

Classifications:

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


External Ids:
Sources

Summaries for Neuronal Ceroid-Lipofuscinoses

About this section
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 no effect and behavior/neurological

Sources

Related Diseases for Neuronal Ceroid-Lipofuscinoses

About this section

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

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 32.9 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 32.1 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 31.4 CLN3 CLN5 CLN6 CLN8 CTSD CTSF
10 neuronal ceroid lipofuscinosis 31.1 BAMBI CLN3 CLN5 CLN6 CLN8 CTSD
11 ceroid lipofuscinosis, neuronal, 11 31.1 CLN3 CLN5 CLN6 CLN8 CTSD CTSF
12 lysosomal storage disease 30.9 CLN3 PPT1 TPP1
13 ceroid lipofuscinosis, neuronal, 5 11.9
14 ceroid lipofuscinosis, neuronal, 8 11.9
15 ceroid lipofuscinosis, neuronal, 6 11.9
16 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 11.6
17 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 11.5
18 aging 10.3
19 mucopolysaccharidosis-plus syndrome 10.3
20 dementia 10.3
21 epilepsy 10.3
22 hermansky-pudlak syndrome 10.3
23 movement disease 10.3
24 visual cortex disease 10.3 CLN8 MFSD8
25 neurodegeneration with brain iron accumulation 2a 10.3
26 neuroaxonal dystrophy 10.3
27 visual pathway disease 10.3 CLN8 MFSD8
28 inclusion-cell disease 10.3 CTSD PSAP
29 cerebral atrophy 10.2 CLN6 CTSD DNAJC5
30 intracranial cysts 10.1 GFAP S100B
31 ideomotor apraxia 10.1 GRN MBP
32 gemistocytic astrocytoma 10.1 GFAP S100B
33 syringocystadenoma papilliferum 10.1 GFAP S100B
34 chordoid meningioma 10.1 GFAP S100B
35 dysembryoplastic neuroepithelial tumor 10.1 GFAP S100B
36 spindle cell rhabdomyosarcoma 10.1 GFAP S100B
37 myxopapillary ependymoma 10.1 GFAP S100B
38 papillary ependymoma 10.1 GFAP S100B
39 chordoid glioma 10.1 GFAP S100B
40 chiari malformation 10.0 GFAP MBP
41 syringoma 10.0 GFAP S100B
42 angiocentric glioma 10.0 GFAP S100B
43 wernicke encephalopathy 10.0 GFAP SLC1A3
44 pineocytoma 10.0 GFAP S100B
45 rosai-dorfman disease 10.0 CTSD S100B
46 anaplastic ependymoma 10.0 GFAP S100B
47 adult neuronal ceroid lipofuscinosis 9.9 CLN6 DNAJC5 PPT1 PSAP TPP1
48 temporal lobe epilepsy 9.9 GFAP PVALB SLC1A3
49 papilloma of choroid plexus 9.9 GFAP S100B
50 brain injury 9.8 GFAP MBP S100B

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



Diseases related to Neuronal Ceroid-Lipofuscinoses
Sources

Symptoms & Phenotypes for Neuronal Ceroid-Lipofuscinoses

About this section

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
Sources

Drugs & Therapeutics for Neuronal Ceroid-Lipofuscinoses

About this section

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
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,Phase 1
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 50-18-0, 6055-19-2 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,Phase 1
30 Antibiotics, Antitubercular Phase 2
31 Antitubercular Agents Phase 2
32 Mitogens Phase 1, Phase 2
33
Benzoyl peroxide Approved Phase 1 94-36-0 7187
34
Clindamycin Approved, Vet_approved Phase 1 18323-44-9 29029
35
Paclitaxel Approved, Vet_approved Phase 1 33069-62-4 36314
36
Carboplatin Approved Phase 1 41575-94-4 10339178 38904 498142
37
Tyrosine Approved, Investigational, Nutraceutical Phase 1 60-18-4 6057
38 Clindamycin palmitate Phase 1
39 Clindamycin phosphate Phase 1
40 Dermatologic Agents Phase 1
41 Antineoplastic Agents, Phytogenic Phase 1
42 Antimitotic Agents Phase 1
43 Albumin-Bound Paclitaxel Phase 1
44 Protein Kinase Inhibitors Phase 1
45
Erlotinib Hydrochloride Phase 1 183319-69-9 176871
46 Immunoglobulin A Phase 1
47 Immunoglobulins Phase 1
48 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:


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
Sources

Genetic Tests for Neuronal Ceroid-Lipofuscinoses

About this section
Sources

Anatomical Context for Neuronal Ceroid-Lipofuscinoses

About this section

MalaCards organs/tissues related to Neuronal Ceroid-Lipofuscinoses:

42
Brain, Testes, Retina, Skin, Cortex, Temporal Lobe
Sources

Publications for Neuronal Ceroid-Lipofuscinoses

About this section

Articles related to Neuronal Ceroid-Lipofuscinoses:

(show top 50) (show all 208)
# Title Authors Year
1
Emerging new roles of the lysosome and neuronal ceroid lipofuscinoses. ( 30651094 )
2019
2
Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses. ( 30877620 )
2019
3
The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function. ( 30919163 )
2019
4
Global Brain Transcriptome Analysis of a Tpp1 Neuronal Ceroid Lipofuscinoses Mouse Model. ( 31003587 )
2019
5
Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses. ( 29631617 )
2018
6
Gene Therapy Approaches to Treat the Neurodegeneration and Visual Failure in Neuronal Ceroid Lipofuscinoses. ( 29721932 )
2018
7
Progress in gene and cell therapies for the neuronal ceroid lipofuscinoses. ( 29936867 )
2018
8
Computed tomography provides enhanced techniques for longitudinal monitoring of progressive intracranial volume loss associated with regional neurodegeneration in ovine neuronal ceroid lipofuscinoses. ( 30136763 )
2018
9
Flupirtine derivatives as potential treatment for the neuronal ceroid lipofuscinoses. ( 30250865 )
2018
10
Neuronal Ceroid Lipofuscinoses: Connecting Calcium Signalling through Calmodulin. ( 30380624 )
2018
11
Induced Pluripotent Stem Cells Derived from a CLN5 Patient Manifest Phenotypic Characteristics of Neuronal Ceroid Lipofuscinoses. ( 28468312 )
2017
12
Gene Therapy of Adult Neuronal Ceroid Lipofuscinoses with CRISPR/Cas9 in Zebrafish. ( 28478735 )
2017
13
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. ( 28860089 )
2017
14
Progress in the Development of Small Molecule Therapeutics for the Treatment of Neuronal Ceroid Lipofuscinoses (NCLs). ( 26565590 )
2016
15
Pseudoperiodic electroencephalogram pattern in a child with late infantile neuronal ceroid lipofuscinoses with a novel CLN6 mutation. ( 27147172 )
2016
16
Correlation Among Genotype, Phenotype, and Histology in Neuronal Ceroid Lipofuscinoses: An Individual Patient Data Meta-Analysis. ( 27238410 )
2016
17
Neuronal ceroid lipofuscinoses. ( 27629553 )
2016
18
Juvenile neuronal ceroid lipofuscinoses (CLN3 Batten disease): what kind of epilepsy? ( 25523638 )
2015
19
The neuronal ceroid lipofuscinoses: Opportunities from model systems. ( 25937302 )
2015
20
Experimental therapies in the neuronal ceroid lipofuscinoses. ( 25957554 )
2015
21
The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina. ( 25976102 )
2015
22
Genetics of the neuronal ceroid lipofuscinoses (Batten disease). ( 26026925 )
2015
23
Recent studies of ovine neuronal ceroid lipofuscinoses from BARN, the Batten Animal Research Network. ( 26073432 )
2015
24
Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations. ( 26115733 )
2015
25
Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder. ( 26117801 )
2015
26
Clinical, electrophysiological, imaging, and ultrastructural description in 68 patients with neuronal ceroid lipofuscinoses and its subtypes. ( 24120650 )
2014
27
Deregulation of biometal homeostasis: the missing link for neuronal ceroid lipofuscinoses? ( 24804307 )
2014
28
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
29
Abstracts of the 14th International Conference on Neuronal Ceroid Lipofuscinoses (batten disease) & 2nd International Patients Organization Meeting, October 22-26, 2014, Córdoba, Argentina. . ( 25350955 )
2014
30
The neuronal ceroid-lipofuscinoses: a historical introduction. ( 22959893 )
2013
31
Bioinformatic perspectives in the neuronal ceroid lipofuscinoses. ( 23274885 )
2013
32
Neuronal ceroid lipofuscinoses. ( 23622391 )
2013
33
The neuronal ceroid-lipofuscinoses. ( 23798013 )
2013
34
Seizure susceptibility, phenotype, and resultant growth delay in the nclf and mnd mouse models of neuronal ceroid lipofuscinoses. ( 23838029 )
2013
35
Classification and natural history of the neuronal ceroid lipofuscinoses. ( 23838030 )
2013
36
Perioperative care of a patient with neuronal ceroid lipofuscinoses. ( 24015141 )
2013
37
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. ( 21990111 )
2012
38
Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses. ( 22245569 )
2012
39
Juvenile neuronal ceroid lipofuscinoses. ( 22411240 )
2012
40
Mouse models of neuronal ceroid lipofuscinoses: useful pre-clinical tools to delineate disease pathophysiology and validate therapeutics. ( 22502604 )
2012
41
New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. ( 22778232 )
2012
42
Clinico-investigative profile of infantile and late-infantile neuronal ceroid lipofuscinoses. ( 22824694 )
2012
43
A rare dementing disease: adult neuronal ceroid lipofuscinoses. ( 23224458 )
2012
44
Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses. ( 21235444 )
2011
45
A two-dimensional protein fragmentation-proteomic study of neuronal ceroid lipofuscinoses: identification and characterization of differentially expressed proteins. ( 21242110 )
2011
46
A metabolomic comparison of mouse models of the Neuronal Ceroid Lipofuscinoses. ( 21461951 )
2011
47
The neuronal ceroid lipofuscinoses: the same, but different? ( 21118105 )
2010
48
Neuronal ceroid lipofuscinoses. ( 19084560 )
2009
49
Towards understanding the neuronal ceroid lipofuscinoses. ( 19195801 )
2009
50
Funduscopic and angiographic appearance in the neuronal ceroid lipofuscinoses. ( 19289983 )
2009
Sources

Variations for Neuronal Ceroid-Lipofuscinoses

About this section
Sources

Expression for Neuronal Ceroid-Lipofuscinoses

About this section
Search GEO for disease gene expression data for Neuronal Ceroid-Lipofuscinoses.
Sources

Pathways for Neuronal Ceroid-Lipofuscinoses

About this section

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

About this section

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 negative regulation of proteolysis GO:0045861 9.51 CLN3 CLN8
3 neuromuscular process controlling balance GO:0050885 9.5 CLN3 SLC1A3 TPP1
4 ceramide metabolic process GO:0006672 9.48 CLN3 CLN8
5 positive regulation of synaptic transmission GO:0050806 9.46 S100B SLC1A3
6 lysosomal lumen acidification GO:0007042 9.46 CLN3 CLN5 CLN6 PPT1
7 associative learning GO:0008306 9.37 CLN3 PPT1
8 lysosome organization GO:0007040 9.35 CLN3 CLN6 MFSD8 PPT1 TPP1
9 cellular macromolecule catabolic process GO:0044265 9.26 CLN6 PPT1
10 protein catabolic process GO:0030163 9.17 CLN3 CLN5 CLN6 CLN8 CTSD PPT1
11 cellular protein catabolic process GO:0044257 9.13 PPT1
12 regulation of cytosolic calcium ion concentration GO:0051480 9.1 CLN3
Sources

Sources for Neuronal Ceroid-Lipofuscinoses

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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
Content
Loading form....