NCL
MCID: NRN005
MIFTS: 42

Neuronal Ceroid-Lipofuscinoses (NCL) malady

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neuronal Ceroid-Lipofuscinoses

Aliases & Descriptions for Neuronal Ceroid-Lipofuscinoses:

Name: Neuronal Ceroid-Lipofuscinoses 39 23 24 38 69
Neuronal Ceroid-Lipofuscinosis, Infantile 39 38
Neuronal Ceroid Lipofuscinoses 24 52
Batten Disease 23 24
Juvenile Neuronal Ceroid Lipofuscinosis 69
Ncl 24

Classifications:



Summaries for Neuronal Ceroid-Lipofuscinoses

MalaCards based summary : Neuronal Ceroid-Lipofuscinoses, also known as neuronal ceroid-lipofuscinosis, infantile, is related to ceroid lipofuscinosis, neuronal, 1 and neuronal ceroid lipofuscinosis, and has symptoms including myoclonus, seizures and abnormality of extrapyramidal motor function. An important gene associated with Neuronal Ceroid-Lipofuscinoses is CLN5 (Ceroid-Lipofuscinosis, Neuronal 5), 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, retina and testes, and related phenotypes are behavior/neurological and cellular

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 52)
id Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 1 11.4
2 neuronal ceroid lipofuscinosis 11.4
3 ceroid lipofuscinosis, neuronal, 7 11.3
4 ceroid lipofuscinosis, neuronal, 8 11.3
5 ceroid lipofuscinosis, neuronal, 10 11.3
6 ceroid lipofuscinosis, neuronal, 2 11.3
7 ceroid lipofuscinosis, neuronal, 5 11.3
8 ceroid lipofuscinosis, neuronal, 6 11.3
9 ceroid lipofuscinosis, neuronal, kufs type, adult onset 11.3
10 ceroid lipofuscinosis, neuronal, 3 11.3
11 ceroid storage disease 11.2
12 neuronitis 11.2
13 ceroid lipofuscinosis, neuronal, 4, parry type 11.1
14 epilepsy, progressive myoclonic 1a 11.1
15 ceroid lipofuscinosis, neuronal, 13, kufs type 11.1
16 ceroid lipofuscinosis, neuronal, 9 11.1
17 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 11.1
18 ceroid lipofuscinosis, neuronal, 11 11.1
19 deafness and myopia 10.3 CLN5 CLN6
20 microcephaly 9, primary, autosomal recessive 10.3 CLN5 CLN6
21 epilepsy 10.2
22 dementia - subcortical 10.2 CLN5 CLN6 PPT1
23 glans penis cancer 10.2 CLN6 CLN8 MFSD8
24 fibroblastic liposarcoma 10.2 CLN6 CLN8 MFSD8
25 posterior uveal melanoma 10.1 CLN3 PPT1 TPP1
26 cataract 44 10.1 CLN6 KCTD7
27 mitochondrial myopathy with diabetes 10.1 CLN5 CLN6 CLN8 MFSD8
28 myopia 10 10.1 CLN5 CLN6 CLN8 MFSD8
29 urinary schistosomiasis 10.1 CLN5 CLN6 CLN8 MFSD8
30 spina bifida occulta 10.1 CTSD PSAP
31 mannosidosis 10.1 CLN3 PPT1 TPP1
32 lysosomal storage disease 10.1
33 mucopolysaccharidosis 10.1
34 dementia 10.1
35 hermansky-pudlak syndrome 10.1
36 progressive myoclonus epilepsy 10.1
37 myoclonus epilepsy 10.1
38 myoclonus 10.1
39 agenesis of the dorsal pancreas 10.0 DNAJC5 PPT1 PSAP TPP1
40 children's interstitial lung disease 10.0 GFAP MBP
41 wilms tumor 2 9.9 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
42 deafness, autosomal recessive 26 9.9 CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1
43 glomerulosclerosis, focal segmental, 2 9.9 CLN6 CLN8 CTSF DNAJC5 KCTD7
44 mononeuritis of lower limb 9.9 CLN3 CLN5 CLN6 PPT1 PSAP TPP1
45 cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk 9.8 MBP SLC1A3
46 obesity bmiq4 9.8 DNAJC5 SLC1A3
47 brody myopathy 9.6 BAMBI CLN3 CLN5 CLN6 CLN8 CTSD
48 medulloblastoma 9.5 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
49 transaldolase deficiency 9.5 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
50 bleeding disorder, platelet-type, 16, autosomal dominant 9.2 ATP13A2 CLN3 CLN5 CLN6 CLN8 CTSD

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

MGI Mouse Phenotypes related to Neuronal Ceroid-Lipofuscinoses:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.36 BAMBI CLN3 CLN6 CLN8 CTSD CTSF
2 cellular MP:0005384 10.13 ATP13A2 CLN3 CTSD GFAP GRN MBP
3 mortality/aging MP:0010768 10.07 CLN3 CLN6 CLN8 CTSD CTSF DNAJC5
4 nervous system MP:0003631 10.06 SLC1A3 TPP1 ATP13A2 CLN3 CLN5 CLN6
5 hematopoietic system MP:0005397 10.02 ATP13A2 CLN3 CLN6 CTSD GRN MBP
6 immune system MP:0005387 9.97 ATP13A2 CLN3 CTSD GFAP GRN MBP
7 hearing/vestibular/ear MP:0005377 9.8 SLC1A3 CTSD DNAJC5 MBP PSAP
8 vision/eye MP:0005391 9.44 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
9 pigmentation MP:0001186 9.35 ATP13A2 CLN8 GRN MFSD8 PPT1

Drugs & Therapeutics for Neuronal Ceroid-Lipofuscinoses

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

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

Interventional clinical trials:

(show all 22)
id Name Status NCT ID Phase
1 Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00028262 Phase 4
2 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3
3 Cellcept for Treatment of Juvenile Neuronal Ceroid Lipofuscinosis Completed NCT01399047 Phase 2
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 AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis Recruiting NCT01414985 Phase 1, Phase 2
6 Batten CLN6 Gene Therapy Recruiting NCT02725580 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
10 Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipofuscinosis Recruiting NCT01161576 Phase 1
11 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
12 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 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 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 Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Recruiting NCT01035424
19 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
20 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
21 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
22 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

Genetic tests related to Neuronal Ceroid-Lipofuscinoses:

id Genetic test Affiliating Genes
1 Neuronal Ceroid-Lipofuscinoses 24 TPP1 PPT1 CTSD GRN ATP13A2 CTSF KCTD7 CLN3 DNAJC5 CLN5 CLN6 MFSD8 CLN8

Anatomical Context for Neuronal Ceroid-Lipofuscinoses

MalaCards organs/tissues related to Neuronal Ceroid-Lipofuscinoses:

39
Brain, Retina, Testes, Skin

Publications for Neuronal Ceroid-Lipofuscinoses

Articles related to Neuronal Ceroid-Lipofuscinoses:

(show top 50) (show all 195)
id Title Authors Year
1
Correlation Among Genotype, Phenotype, and Histology in Neuronal Ceroid Lipofuscinoses: An Individual Patient Data Meta-Analysis. ( 27238410 )
2016
2
Neuronal ceroid lipofuscinoses. ( 27629553 )
2016
3
Pseudoperiodic electroencephalogram pattern in a child with late infantile neuronal ceroid lipofuscinoses with a novel CLN6 mutation. ( 27147172 )
2016
4
Progress in the Development of Small Molecule Therapeutics for the Treatment of Neuronal Ceroid Lipofuscinoses (NCLs). ( 26565590 )
2015
5
Experimental therapies in the neuronal ceroid lipofuscinoses. ( 25957554 )
2015
6
The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina. ( 25976102 )
2015
7
Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder. ( 26117801 )
2015
8
Recent studies of ovine neuronal ceroid lipofuscinoses from BARN, the Batten Animal Research Network. ( 26073432 )
2015
9
The neuronal ceroid lipofuscinoses: Opportunities from model systems. ( 25937302 )
2015
10
Juvenile neuronal ceroid lipofuscinoses (CLN3 Batten disease): what kind of epilepsy? ( 25523638 )
2015
11
Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations. ( 26115733 )
2015
12
Genetics of the neuronal ceroid lipofuscinoses (Batten disease). ( 26026925 )
2015
13
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
14
14th International Conference on Neuronal Ceroid Lipofuscinoses (Batten Disease) & 2nd International Patients Organization Meeting Sheraton Hotel - CA^rdoba, Argentina October 22-26, 2014. ( 25350955 )
2014
15
Clinical, electrophysiological, imaging, and ultrastructural description in 68 patients with neuronal ceroid lipofuscinoses and its subtypes. ( 24120650 )
2014
16
Deregulation of biometal homeostasis: the missing link for neuronal ceroid lipofuscinoses? ( 24804307 )
2014
17
Classification and natural history of the neuronal ceroid lipofuscinoses. ( 23838030 )
2013
18
The neuronal ceroid-lipofuscinoses: a historical introduction. ( 22959893 )
2013
19
Bioinformatic perspectives in the neuronal ceroid lipofuscinoses. ( 23274885 )
2013
20
Perioperative care of a patient with neuronal ceroid lipofuscinoses. ( 24015141 )
2013
21
The neuronal ceroid-lipofuscinoses. ( 23798013 )
2013
22
Seizure susceptibility, phenotype, and resultant growth delay in the nclf and mnd mouse models of neuronal ceroid lipofuscinoses. ( 23838029 )
2013
23
Neuronal ceroid lipofuscinoses. ( 23622391 )
2013
24
New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. ( 22778232 )
2012
25
Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses. ( 22245569 )
2012
26
A rare dementing disease: adult neuronal ceroid lipofuscinoses. ( 23224458 )
2012
27
Mouse models of neuronal ceroid lipofuscinoses: useful pre-clinical tools to delineate disease pathophysiology and validate therapeutics. ( 22502604 )
2012
28
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. ( 21990111 )
2012
29
Juvenile neuronal ceroid lipofuscinoses. ( 22411240 )
2012
30
Clinico-investigative profile of infantile and late-infantile neuronal ceroid lipofuscinoses. ( 22824694 )
2012
31
Progressive myoclonus epilepsy: Unverricht-Lundborg disease and Neuronal ceroid lipofuscinoses ( 22787658 )
2012
32
A metabolomic comparison of mouse models of the Neuronal Ceroid Lipofuscinoses. ( 21461951 )
2011
33
A two-dimensional protein fragmentation-proteomic study of neuronal ceroid lipofuscinoses: identification and characterization of differentially expressed proteins. ( 21242110 )
2011
34
Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses. ( 21235444 )
2011
35
The neuronal ceroid lipofuscinoses: the same, but different? ( 21118105 )
2010
36
Neuronal ceroid lipofuscinoses. ( 19084560 )
2009
37
Funduscopic and angiographic appearance in the neuronal ceroid lipofuscinoses. ( 19289983 )
2009
38
Neuropeptide changes and neuroactive amino acids in CSF from humans and sheep with neuronal ceroid lipofuscinoses (NCLs, Batten disease). ( 19664668 )
2009
39
Towards understanding the neuronal ceroid lipofuscinoses. ( 19195801 )
2009
40
Treatment of lysosomal storage disorders: focus on the neuronal ceroid-lipofuscinoses. ( 18668166 )
2008
41
Neuronal ceroid lipofuscinoses therapeutic strategies: past, present and future. ( 17049436 )
2006
42
Anesthesia management in neuronal ceroid lipofuscinoses. ( 16490109 )
2006
43
The neuronal ceroid-lipofuscinoses: from past to present. ( 16908122 )
2006
44
Neuronal ceroid lipofuscinoses (NCL). ( 17035052 )
2006
45
Mechanisms of neurodegeneration in neuronal ceroid-lipofuscinoses. ( 16465529 )
2006
46
Occurrence of and mortality from childhood neuronal ceroid lipofuscinoses in norway. ( 17092455 )
2006
47
Diagnosis of the neuronal ceroid lipofuscinoses: an update. ( 16930952 )
2006
48
Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins. ( 16839750 )
2006
49
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. ( 15965709 )
2005
50
Cathepsin D-deficient Drosophila recapitulate the key features of neuronal ceroid lipofuscinoses. ( 15837574 )
2005

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:

id Super pathways Score Top Affiliating Genes
1 11.77 ATP13A2 GFAP MBP SLC1A3
2 11.32 CLN3 CLN5 CTSD CTSF MFSD8 PPT1

GO Terms for Neuronal Ceroid-Lipofuscinoses

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

id Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.71 ATP13A2 MBP PPT1 SLC1A3
2 neuron projection GO:0043005 9.67 ATP13A2 CLN3 PPT1 SLC1A3
3 lysosomal membrane GO:0005765 9.63 ATP13A2 CLN3 CLN5 DNAJC5 MFSD8 PSAP
4 synaptic vesicle GO:0008021 9.5 CLN3 DNAJC5 PPT1
5 melanosome GO:0042470 9.43 CTSD DNAJC5 TPP1
6 lysosomal lumen GO:0043202 9.43 ATP13A2 CTSD CTSF PPT1 PSAP TPP1
7 lysosome GO:0005764 9.36 ATP13A2 CLN3 CLN5 CTSD CTSF GFAP

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.65 CLN3 DNAJC5 PPT1
2 neuromuscular process controlling balance GO:0050885 9.62 CLN3 CLN8 SLC1A3 TPP1
3 associative learning GO:0008306 9.54 CLN3 CLN8 PPT1
4 negative regulation of proteolysis GO:0045861 9.49 CLN3 CLN8
5 cellular protein catabolic process GO:0044257 9.46 CLN8 PPT1
6 lysosomal lumen acidification GO:0007042 9.46 CLN3 CLN5 CLN6 PPT1
7 ceramide metabolic process GO:0006672 9.43 CLN3 CLN8
8 cellular macromolecule catabolic process GO:0044265 9.43 CLN6 CLN8 PPT1
9 lysosome organization GO:0007040 9.43 CLN3 CLN6 CLN8 MFSD8 PPT1 TPP1
10 regulation of chaperone-mediated autophagy GO:1904714 9.4 ATP13A2 GFAP
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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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