MCID: NRN005
MIFTS: 41

Neuronal Ceroid-Lipofuscinoses

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neuronal Ceroid-Lipofuscinoses

MalaCards integrated aliases 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 ceroid lipofuscinosis, neuronal, 10, 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 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 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 all 49)
id Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 1 29.7 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
2 ceroid lipofuscinosis, neuronal, 10 11.3
3 ceroid lipofuscinosis, neuronal, 2 11.3
4 ceroid lipofuscinosis, neuronal, 5 11.3
5 ceroid lipofuscinosis, neuronal, 6 11.3
6 ceroid lipofuscinosis, neuronal, kufs type, adult onset 11.3
7 ceroid lipofuscinosis, neuronal, 3 11.3
8 ceroid lipofuscinosis, neuronal, 7 11.3
9 ceroid lipofuscinosis, neuronal, 8 11.3
10 neuronal ceroid lipofuscinosis 11.3
11 neuronitis 11.2
12 ceroid lipofuscinosis, neuronal, 11 11.1
13 ceroid lipofuscinosis, neuronal, 4, parry type 11.1
14 ceroid lipofuscinosis, neuronal, 13, kufs type 11.1
15 ceroid lipofuscinosis, neuronal, 9 11.1
16 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 11.1
17 cngb3-related stargardt disease 1 10.6 CLN6 DNAJC5
18 congenital vascular cavernous malformations 10.5 CLN6 DNAJC5
19 blessig's cysts 10.4 CLN3 CLN5
20 urinary schistosomiasis 10.4 CLN6 CLN8 MFSD8
21 esophagus liposarcoma 10.4 CLN6 CLN8 MFSD8
22 malignant glioma 10.3 CLN3 PPT1 TPP1
23 spina bifida occulta 10.3 CTSD PSAP
24 epilepsy 10.2
25 rrm2b-related mitochondrial dna depletion syndrome 10.2 CTSD S100B
26 microcephaly 1, primary, autosomal recessive 10.2 CLN5 CLN6 CLN8 MFSD8
27 spinocerebellar ataxia, autosomal recessive 14 10.1 DNAJC5 SLC1A3
28 progressive myoclonus epilepsy 10.1
29 myoclonus epilepsy 10.1
30 myoclonus 10.1
31 lysosomal storage disease 10.1
32 dementia 10.1
33 hermansky-pudlak syndrome 10.1
34 endotheliitis 9.9 MBP SLC1A3
35 submandibular adenitis 9.9 GRN MBP
36 diarrhea, chronic, with villous atrophy 9.9 CLN5 CLN6 CLN8 DNAJC5 MFSD8
37 3mc syndrome 9.8 GRN MBP
38 joubert syndrome 26 9.7 CLN3 CLN5 CLN6 CTSD PPT1 TPP1
39 adult-onset nemaline myopathy 9.7 CLN6 DNAJC5 PPT1 PSAP TPP1
40 mental retardation, autosomal dominant 24 9.7 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
41 macular dystrophy with central cone involvement 9.6 CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1
42 uterine corpus cancer 9.6 CLN3 CLN5 CLN6 PPT1 PSAP TPP1
43 ulcerative colitis 9.5 MBP S100B
44 retinal degeneration, late-onset, autosomal dominant 9.5 CLN6 CLN8 CTSF DNAJC5 KCTD7
45 glans penis cancer 9.1 CLN5 CLN6 CLN8 DNAJC5 KCTD7 MFSD8
46 spinocerebellar ataxia, autosomal recessive 7 8.3 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
47 glanzmann thrombasthenia 7.1 ATP13A2 CLN3 CLN5 CLN6 CLN8 CTSD
48 partial arterial retinal occlusion 6.4 ATP13A2 CLN3 CLN5 CLN6 CLN8 CTSD
49 kashin-beck disease 4.8 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 10.31 CTSD CTSF DNAJC5 GRN MBP MFSD8
2 cellular MP:0005384 10.06 ATP13A2 CLN3 CTSD GRN MBP MFSD8
3 mortality/aging MP:0010768 10.03 CLN3 CLN6 CLN8 CTSD CTSF DNAJC5
4 nervous system MP:0003631 10.03 ATP13A2 CLN3 CLN5 CLN6 CLN8 CTSD
5 hematopoietic system MP:0005397 9.97 ATP13A2 CLN3 CLN6 CTSD GRN MBP
6 hearing/vestibular/ear MP:0005377 9.77 CTSD DNAJC5 MBP PSAP SLC1A3
7 vision/eye MP:0005391 9.4 CLN6 CLN8 CTSD DNAJC5 GRN MBP
8 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 29)
id 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
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 Antirheumatic Agents Phase 2, Phase 3
18 Immunosuppressive Agents Phase 2, Phase 3
19 Methylprednisolone acetate Phase 2, Phase 3
20 Methylprednisolone Hemisuccinate Phase 2, Phase 3
21 Prednisolone acetate Phase 2, Phase 3
22 Prednisolone hemisuccinate Phase 2, Phase 3
23 Prednisolone phosphate Phase 2, Phase 3
24
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
25
Mycophenolic acid Approved Phase 2 24280-93-1 446541
26
Omeprazole Approved, Investigational, Vet_approved Phase 2 73590-58-6 4594
27 Anti-Bacterial Agents Phase 2
28 Antibiotics, Antitubercular Phase 2
29
Menthol Approved Phase 1 2216-51-5 16666

Interventional clinical trials:

(show all 24)

id 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 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 scAVV9.CB.CLN6
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 BMN190 recombinant human tripeptidyl peptidase-1 (rhTPP1)
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 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 Human Placental Derived Stem Cell
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 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 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
23 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
24 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, Testes, Retina, Skin

Publications for Neuronal Ceroid-Lipofuscinoses

Articles related to Neuronal Ceroid-Lipofuscinoses:

(show top 50) (show all 198)
id Title Authors Year
1
Gene Therapy of Adult Neuronal Ceroid Lipofuscinoses with CRISPR/Cas9 in Zebrafish. ( 28478735 )
2017
2
Induced Pluripotent Stem Cells Derived from a CLN5 Patient Manifest Phenotypic Characteristics of Neuronal Ceroid Lipofuscinoses. ( 28468312 )
2017
3
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. ( 28860089 )
2017
4
Correlation Among Genotype, Phenotype, and Histology in Neuronal Ceroid Lipofuscinoses: An Individual Patient Data Meta-Analysis. ( 27238410 )
2016
5
Neuronal ceroid lipofuscinoses. ( 27629553 )
2016
6
Pseudoperiodic electroencephalogram pattern in a child with late infantile neuronal ceroid lipofuscinoses with a novel CLN6 mutation. ( 27147172 )
2016
7
The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina. ( 25976102 )
2015
8
Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations. ( 26115733 )
2015
9
Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder. ( 26117801 )
2015
10
The neuronal ceroid lipofuscinoses: Opportunities from model systems. ( 25937302 )
2015
11
Genetics of the neuronal ceroid lipofuscinoses (Batten disease). ( 26026925 )
2015
12
Recent studies of ovine neuronal ceroid lipofuscinoses from BARN, the Batten Animal Research Network. ( 26073432 )
2015
13
Progress in the Development of Small Molecule Therapeutics for the Treatment of Neuronal Ceroid Lipofuscinoses (NCLs). ( 26565590 )
2015
14
Experimental therapies in the neuronal ceroid lipofuscinoses. ( 25957554 )
2015
15
Juvenile neuronal ceroid lipofuscinoses (CLN3 Batten disease): what kind of epilepsy? ( 25523638 )
2015
16
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
17
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
18
Clinical, electrophysiological, imaging, and ultrastructural description in 68 patients with neuronal ceroid lipofuscinoses and its subtypes. ( 24120650 )
2014
19
Deregulation of biometal homeostasis: the missing link for neuronal ceroid lipofuscinoses? ( 24804307 )
2014
20
The neuronal ceroid-lipofuscinoses. ( 23798013 )
2013
21
Seizure susceptibility, phenotype, and resultant growth delay in the nclf and mnd mouse models of neuronal ceroid lipofuscinoses. ( 23838029 )
2013
22
The neuronal ceroid-lipofuscinoses: a historical introduction. ( 22959893 )
2013
23
Bioinformatic perspectives in the neuronal ceroid lipofuscinoses. ( 23274885 )
2013
24
Neuronal ceroid lipofuscinoses. ( 23622391 )
2013
25
Classification and natural history of the neuronal ceroid lipofuscinoses. ( 23838030 )
2013
26
Perioperative care of a patient with neuronal ceroid lipofuscinoses. ( 24015141 )
2013
27
Progressive myoclonus epilepsy: Unverricht-Lundborg disease and Neuronal ceroid lipofuscinoses ( 22787658 )
2012
28
Juvenile neuronal ceroid lipofuscinoses. ( 22411240 )
2012
29
Mouse models of neuronal ceroid lipofuscinoses: useful pre-clinical tools to delineate disease pathophysiology and validate therapeutics. ( 22502604 )
2012
30
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. ( 21990111 )
2012
31
New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. ( 22778232 )
2012
32
A rare dementing disease: adult neuronal ceroid lipofuscinoses. ( 23224458 )
2012
33
Clinico-investigative profile of infantile and late-infantile neuronal ceroid lipofuscinoses. ( 22824694 )
2012
34
Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses. ( 22245569 )
2012
35
A two-dimensional protein fragmentation-proteomic study of neuronal ceroid lipofuscinoses: identification and characterization of differentially expressed proteins. ( 21242110 )
2011
36
A metabolomic comparison of mouse models of the Neuronal Ceroid Lipofuscinoses. ( 21461951 )
2011
37
Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses. ( 21235444 )
2011
38
The neuronal ceroid lipofuscinoses: the same, but different? ( 21118105 )
2010
39
Funduscopic and angiographic appearance in the neuronal ceroid lipofuscinoses. ( 19289983 )
2009
40
Towards understanding the neuronal ceroid lipofuscinoses. ( 19195801 )
2009
41
Neuropeptide changes and neuroactive amino acids in CSF from humans and sheep with neuronal ceroid lipofuscinoses (NCLs, Batten disease). ( 19664668 )
2009
42
Neuronal ceroid lipofuscinoses. ( 19084560 )
2009
43
Treatment of lysosomal storage disorders: focus on the neuronal ceroid-lipofuscinoses. ( 18668166 )
2008
44
Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins. ( 16839750 )
2006
45
Neuronal ceroid lipofuscinoses (NCL). ( 17035052 )
2006
46
Mechanisms of neurodegeneration in neuronal ceroid-lipofuscinoses. ( 16465529 )
2006
47
The neuronal ceroid-lipofuscinoses: from past to present. ( 16908122 )
2006
48
Anesthesia management in neuronal ceroid lipofuscinoses. ( 16490109 )
2006
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

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 MBP S100B 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 neuron projection GO:0043005 9.71 ATP13A2 CLN3 PPT1 SLC1A3
2 neuronal cell body GO:0043025 9.65 ATP13A2 MBP PPT1 S100B SLC1A3
3 lysosomal membrane GO:0005765 9.63 ATP13A2 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 9.43 ATP13A2 CTSD CTSF PPT1 PSAP TPP1
7 lysosome GO:0005764 9.32 ATP13A2 CLN3 CLN5 CTSD CTSF GRN

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 9.63 CLN3 DNAJC5 PPT1
2 central nervous system development GO:0007417 9.58 MBP S100B TPP1
3 lysosome organization GO:0007040 9.55 CLN3 CLN6 MFSD8 PPT1 TPP1
4 neuromuscular process controlling balance GO:0050885 9.5 CLN3 SLC1A3 TPP1
5 associative learning GO:0008306 9.49 CLN3 PPT1
6 negative regulation of proteolysis GO:0045861 9.48 CLN3 CLN8
7 ceramide metabolic process GO:0006672 9.43 CLN3 CLN8
8 positive regulation of synaptic transmission GO:0050806 9.37 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
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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