NCL
MCID: NRN021
MIFTS: 63

Neuronal Ceroid Lipofuscinosis (NCL)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neuronal Ceroid Lipofuscinosis

MalaCards integrated aliases for Neuronal Ceroid Lipofuscinosis:

Name: Neuronal Ceroid Lipofuscinosis 12 75 53 54 59 37 29 6 15 33
Hereditary Ceroid Lipofuscinosis 12 75
Neuronal Ceroid-Lipofuscinoses 44 72
Ncl 53 59
Juvenile Neuronal Ceroid Lipofuscinosis 72
Lipofuscinosis, Ceroid, Neuronal 40
Batten Disease 53

Characteristics:

Orphanet epidemiological data:

59
neuronal ceroid lipofuscinosis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages; Age of death: any age;

Classifications:



External Ids:

Disease Ontology 12 DOID:14503
KEGG 37 H00149
MeSH 44 D009472
NCIt 50 C61257
SNOMED-CT 68 42012007
ICD10 33 E75.4
MESH via Orphanet 45 D009472
ICD10 via Orphanet 34 E75.4
UMLS via Orphanet 73 C0027877
Orphanet 59 ORPHA216
UMLS 72 C0027877 C0751383

Summaries for Neuronal Ceroid Lipofuscinosis

NIH Rare Diseases : 53 Neuronal ceroid lipofuscinosis (NCL) refers to a group of conditions that affect the nervous system. Signs and symptoms vary widely between the forms but generally include a combination of dementia, vision loss, and epilepsy. Although the NCLs were historically classified according to their age of onset and clinical symptoms, the most recent classification system is primarily based on their underlying genetic cause. Most forms are inherited in an autosomal recessive manner; however, autosomal dominant inheritance has been reported in one adult-onset form (neuronal ceroid lipofuscinosis 4B). Treatment options are limited to therapies that can help relieve some of the symptoms. The Batten Disease Support and Research Association (BDSRA) has more information about the different types of NCL. BDSRA: Summary of new classification nomenclature of the NCLs Please note: Batten disease originally referred specifically to the juvenile and most common form of NCL, now known as CLN3. However, the term Batten disease is increasingly used to describe all forms of NCL. All types of NCL also belong to a larger group of diseases known as lysosomal storage disorders.

MalaCards based summary : Neuronal Ceroid Lipofuscinosis, also known as hereditary ceroid lipofuscinosis, is related to adult neuronal ceroid lipofuscinosis and ceroid lipofuscinosis, neuronal, 10, and has symptoms including seizures, myoclonus and abnormality of extrapyramidal motor function. An important gene associated with Neuronal Ceroid Lipofuscinosis is CLN3 (CLN3 Lysosomal/Endosomal Transmembrane Protein, Battenin), and among its related pathways/superpathways are Fatty acid elongation and Lysosome. The drugs Prednisolone phosphate and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and liver, and related phenotypes are intellectual disability and seizures

NINDS : 54 Batten disease is the name for a group of inherited nervous system disorders that most often begin in childhood and interfere with a cell's ability to recycle a cellular residue called lipofuscin. Batten is commonly being used to describe the many forms of the disease, called neuronal ceroid lipofuscinosis. The many forms of the disease are classified by the gene that causes the disorder, with each gene being called CLN (ceroid lipofucinosis, neuronal) and given a different number as its subtype. Because of the different gene mutations, signs and symptoms range in severity and progress at different rates. Symptoms generally include: progressive vision loss leading to blindness, seizures, movement disorder, and dementia. Developmental skills such as standing, walking, and talking may not be achieved or are gradually lost. Other symptoms that continue to worsen over time include learning difficulties, poor concentration, and progressive loss of language skills and speech. Most children become bedridden and unable to communicate. Some children develop problems sleeping. Currently, most diagnoses of Batten disease are made by genetic testing.

KEGG : 37
Neuronal ceroid lipofuscinosis (NCL) is a group of severe neurodegenerative lysosomal storage diseases characterized by intracellular accumulation of ceroid lipofuscin in neurons. NCLs share similar symptoms and signs such as retinopathy, epilepsy, and dementia. Historically, the NCLs were classified by age of disease onset as congenital NCL, infantile NCL (INCL), late infantile NCL (LINCL), juvenile NCL (JNCL) or adult NCL (ANCL). The presently used nomenclature is based on the genetic findings and divides the NCLs into thirteen forms, CLN1-CLN13.

Wikipedia : 75 Neuronal ceroid lipofuscinosis is the general name for a family of at least eight genetically separate... more...

Related Diseases for Neuronal Ceroid Lipofuscinosis

Diseases in the Neuronal Ceroid Lipofuscinosis family:

Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant Ceroid Lipofuscinosis, Neuronal, 3
Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive Ceroid Lipofuscinosis, Neuronal, 2
Ceroid Lipofuscinosis, Neuronal, 1 Ceroid Lipofuscinosis, Neuronal, 5
Ceroid Lipofuscinosis, Neuronal, 8 Ceroid Lipofuscinosis, Neuronal, 6
Ceroid Lipofuscinosis, Neuronal, 9 Ceroid Lipofuscinosis, Neuronal, 10
Ceroid Lipofuscinosis, Neuronal, 7 Ceroid Lipofuscinosis, Neuronal, 11
Ceroid Lipofuscinosis, Neuronal, 13 Adult Neuronal Ceroid Lipofuscinosis

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

(show top 50) (show all 235)
# Related Disease Score Top Affiliating Genes
1 adult neuronal ceroid lipofuscinosis 35.5 TPP1 PSAP PPT1 DNAJC5 CLN6
2 ceroid lipofuscinosis, neuronal, 10 35.3 DNAJC5 CTSD CLN8 CLN6 CLN5 CLN3
3 ceroid lipofuscinosis, neuronal, 3 35.3 TPP1 PPT1 CTSD CLN6 CLN5 CLN3
4 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 35.1 MFSD8 CLN8 CLN6 CLN5
5 ceroid lipofuscinosis, neuronal, 7 35.0 MFSD8 DNAJC5 CLN8 CLN6 CLN5 CLN3
6 ceroid lipofuscinosis, neuronal, 13 34.9 KCTD7 DNAJC5 CTSF CLN8 CLN5
7 ceroid lipofuscinosis, neuronal, 1 34.8 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSD
8 ceroid lipofuscinosis, neuronal, 2 34.6 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
9 ceroid lipofuscinosis, neuronal, 9 34.3 DNAJC5 CLN9 CLN8 CLN6 CLN5
10 ceroid lipofuscinosis, neuronal, 11 33.9 PPT1 MFSD8 KCTD7 GRN DNAJC5 CTSF
11 ceroid storage disease 33.8 TPP1 PPT1 DNAJC5 CLN8 CLN6 CLN5
12 lysosomal storage disease 33.7 TPP1 PPT1 M6PR CLN3
13 neuronal ceroid-lipofuscinoses 33.3 TPP1 PSAP PPT1 MFSD8 GRN DNAJC5
14 cerebral atrophy 32.3 DNAJC5 CTSD CLN6
15 mucolipidosis ii alpha/beta 30.6 PSAP M6PR
16 ceroid lipofuscinosis, neuronal, 6 13.0
17 ceroid lipofuscinosis, neuronal, 5 12.9
18 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 12.9
19 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 12.8
20 ceroid lipofuscinosis, neuronal, 8 12.7
21 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 12.5
22 kufor-rakeb syndrome 12.3
23 cln4 disease 12.1
24 yemenite deaf-blind hypopigmentation syndrome 11.1
25 ataxia and polyneuropathy, adult-onset 11.0
26 retinal degeneration 10.9
27 myoclonus 10.9
28 encephalopathy 10.8
29 seizure disorder 10.7
30 visual epilepsy 10.7
31 epilepsy, progressive myoclonic, 4, with or without renal failure 10.6
32 autosomal recessive disease 10.6
33 inclusion-cell disease 10.6 PSAP CTSD
34 3-methylglutaconic aciduria, type iii 10.6
35 retinitis pigmentosa 10.6
36 aceruloplasminemia 10.6
37 neuroretinitis 10.6
38 epilepsy 10.6
39 retinitis 10.6
40 progressive myoclonus epilepsy 10.6
41 myoclonus epilepsy 10.6
42 visual cortex disease 10.6 MFSD8 CLN8
43 tremor 10.6
44 rett syndrome 10.5
45 frontotemporal dementia 10.5
46 macular degeneration, age-related, 1 10.5
47 early myoclonic encephalopathy 10.5
48 sinoatrial node disease 10.5
49 sick sinus syndrome 10.5
50 microcephaly 10.5

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



Diseases related to Neuronal Ceroid Lipofuscinosis

Symptoms & Phenotypes for Neuronal Ceroid Lipofuscinosis

Human phenotypes related to Neuronal Ceroid Lipofuscinosis:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
3 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
4 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
5 abnormal electroretinogram 59 32 hallmark (90%) Very frequent (99-80%) HP:0000512
6 visual loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0000572
7 mental deterioration 59 32 hallmark (90%) Very frequent (99-80%) HP:0001268
8 ocular albinism 59 32 hallmark (90%) Very frequent (99-80%) HP:0001107
9 abnormal retinal vascular morphology 32 hallmark (90%) HP:0008046
10 neurological speech impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002167
11 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
12 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
13 abnormality of metabolism/homeostasis 59 32 frequent (33%) Frequent (79-30%) HP:0001939
14 abnormality of movement 59 32 frequent (33%) Frequent (79-30%) HP:0100022
15 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
16 behavioral abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0000708
17 visual impairment 59 Very frequent (99-80%)
18 abnormality of the eye 59 Frequent (79-30%)
19 abnormality of vision 59 Frequent (79-30%)
20 abnormality of the retinal vasculature 59 Very frequent (99-80%)

UMLS symptoms related to Neuronal Ceroid Lipofuscinosis:


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

MGI Mouse Phenotypes related to Neuronal Ceroid Lipofuscinosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.25 ATP13A2 CLN3 CLN6 CLN8 CTSD CTSF
2 cellular MP:0005384 10.11 ATP13A2 CLN3 CTSD GRN M6PR MFSD8
3 mortality/aging MP:0010768 10.1 CLN3 CLN6 CLN8 CTSD CTSF DNAJC5
4 nervous system MP:0003631 10 ATP13A2 CLN3 CLN5 CLN6 CLN8 CTSD
5 hematopoietic system MP:0005397 9.97 CLN3 CLN6 CTSD GRN MFSD8 PPT1
6 pigmentation MP:0001186 9.43 ATP13A2 CLN8 GRN MFSD8 PPT1 PPT2
7 vision/eye MP:0005391 9.36 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5

Drugs & Therapeutics for Neuronal Ceroid Lipofuscinosis

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

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
2
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
3
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
4
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
5
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
6
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
7
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
8 Alkylating Agents Phase 2, Phase 3
9 Prednisolone acetate Phase 2, Phase 3
10 Methylprednisolone Acetate Phase 2, Phase 3
11 Immunosuppressive Agents Phase 2, Phase 3
12 Antilymphocyte Serum Phase 2, Phase 3
13 Immunologic Factors Phase 2, Phase 3
14 Antirheumatic Agents Phase 2, Phase 3
15 Antineoplastic Agents, Alkylating Phase 2, Phase 3
16
Omeprazole Approved, Investigational, Vet_approved Phase 2 73590-58-6 4594
17
Mycophenolic acid Approved Phase 2 24280-93-1 446541
18 Anti-Bacterial Agents Phase 2
19 Anti-Infective Agents Phase 2
20 Antitubercular Agents Phase 2
21 Antibiotics, Antitubercular Phase 2

Interventional clinical trials:

(show all 26)
# Name Status NCT ID Phase Drugs
1 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
2 Phase II, Randomized, Placebo Controlled Trial of the Safety and Tolerability of Mycophenolate in Children With Juvenile Neuronal Ceroid Lipofuscinosis Completed NCT01399047 Phase 2 Mycophenolate mofetil;Liquid Placebo
3 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 Type 2 (CLN2) Disease Completed NCT01907087 Phase 1, Phase 2
4 Phase I/IIa Gene Transfer Clinical Trial for Juvenile Neuronal Ceroid Lipofuscinosis, Delivering the CLN3 Gene by Self-Complementary AAV9 Recruiting NCT03770572 Phase 1, Phase 2
5 Phase I/IIa Gene Transfer Clinical Trial for Variant Late Infantile Neuronal Ceroid Lipofuscinosis, Delivering the CLN6 Gene by Self-Complementary AAV9 Active, not recruiting NCT02725580 Phase 1, Phase 2 scAVV9.CB.CLN6
6 Direct CNS Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human CLN2 cDNA to Children With LINCL With Uncommon Genotypes and/or Moderate to Severe Impairment 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 Phase 2, Open-Label, Multicenter Study to Evaluate Safety, Tolerability, and Efficacy of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease Enrolling by invitation NCT02678689 Phase 2
9 A Phase I Study of the Safety and Preliminary Effectiveness of Human CNS Stem Cells (HuCNS-SC) in Patients With Neuronal Ceroid Lipofuscinosis Caused by Palmitoyl Protein Thioesterase 1 (PPT1) or Tripeptidyl Peptidase 1 (TPP-I) Deficiency Completed NCT00337636 Phase 1 Medication to suppress the immune system
10 Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
11 Direct CNS Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human CLN2 cDNA to Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) Active, not recruiting NCT01161576 Phase 1
12 A Single-Arm Study to Assess the Safety of Transplantation With Human Placental-Derived Stem-Cells Combined With Unrelated and Related Cord Blood in Subjects With Certain Malignant Hematologic Diseases and Non-Malignant Disorders Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
13 A Phase Ib Study of the Safety and Preliminary Efficacy of Allogeneic Intracerebral Human Central Nervous System Stem Cell Transplantation in Subjects With Non-Refractory Infantile and Late Infantile Neuronal Ceroid Lipofuscinosis Withdrawn NCT01238315 Phase 1
14 Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities Completed NCT01966757
15 Unrelated Donor Bone Marrow Transplantation for Definitive Treatment of Patients With Phosphoglycerate Kinase (PGK) Deficiency Completed NCT00592540
16 Investigations of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3) Recruiting NCT03307304
17 Clinical and Neuropsychological Investigations in Batten Disease Recruiting NCT01873924
18 A Natural History Study of Late Infantile Variant CLN7 And CLN5 Disease Recruiting NCT03822650
19 Natural History Study of Batten's CLN6 Disease Recruiting NCT03285425
20 Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease Recruiting NCT03862274
21 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
22 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
23 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
24 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 Lipofuscinosis

Cochrane evidence based reviews: neuronal ceroid-lipofuscinoses

Genetic Tests for Neuronal Ceroid Lipofuscinosis

Genetic tests related to Neuronal Ceroid Lipofuscinosis:

# Genetic test Affiliating Genes
1 Neuronal Ceroid Lipofuscinosis 29

Anatomical Context for Neuronal Ceroid Lipofuscinosis

MalaCards organs/tissues related to Neuronal Ceroid Lipofuscinosis:

41
Brain, Testes, Liver, Kidney, Spleen, Skin, Retina

Publications for Neuronal Ceroid Lipofuscinosis

Articles related to Neuronal Ceroid Lipofuscinosis:

(show top 50) (show all 1826)
# Title Authors PMID Year
1
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family. 38
30892110 2019
2
Large animal models contribute to the development of therapies for central and peripheral nervous system dysfunction in patients with lysosomal storage diseases. 38
31384936 2019
3
Gene-based approaches to inherited neurometabolic diseases. 38
31397176 2019
4
Exogenous Galactosylceramide as Potential Treatment for CLN3 Disease. 38
31393621 2019
5
Positron Emission Tomography in Pediatric Neurodegenerative Disorders. 38
31416725 2019
6
Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation. 38
31059981 2019
7
CRISPR/Cas9 mediated generation of an ovine model for infantile neuronal ceroid lipofuscinosis (CLN1 disease). 38
31289301 2019
8
Upregulation of tripeptidyl-peptidase 1 by 3-hydroxy-(2,2)-dimethyl butyrate, a brain endogenous ligand of PPARα: Implications for late-infantile Batten disease therapy. 38
30928643 2019
9
Loss of Cln5 leads to altered Gad1 expression and deficits in interneuron development in mice. 38
31294445 2019
10
Enzyme replacement therapy with recombinant pro-CTSD (cathepsin D) corrects defective proteolysis and autophagy in neuronal ceroid lipofuscinosis. 38
31282275 2019
11
Gene Therapy Corrects Brain and Behavioral Pathologies in CLN6-Batten Disease. 38
31331814 2019
12
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease. 38
31283065 2019
13
The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function. 38
30919163 2019
14
TPP1 Delivery to Lysosomes with Extracellular Vesicles and their Enhanced Brain Distribution in the Animal Model of Batten Disease. 38
30997751 2019
15
A novel cathepsin D mutation in 2 siblings with late infantile neuronal ceroid lipofuscinosis. 38
31086824 2019
16
[Pathogenic gene variants and clinical phenotype features of 26 children with progressive myoclonic epilepsy]. 38
31216804 2019
17
A novel, hybrid, single- and multi-site clinical trial design for CLN3 disease, an ultra-rare lysosomal storage disorder. 38
31184505 2019
18
Considerations in multi-gene panel testing in pediatric ophthalmology. 38
30769084 2019
19
Applying modern Omic technologies to the Neuronal Ceroid Lipofuscinoses. 38
31207290 2019
20
Comparative transcriptomics reveals mechanisms underlying cln3-deficiency phenotypes in Dictyostelium. 38
30771446 2019
21
Neuronal ceroid lipofuscinosis type-11 in an adolescent. 38
30922528 2019
22
Cerliponase alfa for neuronal ceroid lipofuscinosis type 2 disease. 38
31363309 2019
23
A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing. 38
30760880 2019
24
Epileptological aspects of juvenile neuronal ceroid lipofuscinosis (CLN3 disease) through the lifespan. 38
30884409 2019
25
A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs. 38
31101435 2019
26
Modelling of Neuronal Ceroid Lipofuscinosis Type 2 in Dictyostelium discoideum Suggests That Cytopathological Outcomes Result from Altered TOR Signalling. 38
31100984 2019
27
Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease. 38
30771299 2019
28
Perampanel attenuates myoclonus in a patient with neuronal ceroid lipofuscinoses type 2 disease. 38
31122803 2019
29
ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis. 38
30956123 2019
30
The Parkinson-associated human P5B-ATPase ATP13A2 modifies lipid homeostasis. 38
31132336 2019
31
16- Overview of advances in educational and social supports for young persons with NCL disorders. 38
31152869 2019
32
Developmental NMDA receptor dysregulation in the infantile neuronal ceroid lipofuscinosis mouse model. 38
30946007 2019
33
MFSD8 gene mutations; evidence for phenotypic heterogeneity. 38
31006324 2019
34
Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion. 38
30992063 2019
35
Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation. 38
31029456 2019
36
Cln3-mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl-protein thioesterases-1 (Ppt1)-protein and Ppt1-enzyme activity in the lysosome. 38
31025705 2019
37
Genetic Regulation of Neuronal Progranulin Reveals a Critical Role for the Autophagy-Lysosome Pathway. 38
30696728 2019
38
Reduction of microglial progranulin does not exacerbate pathology or behavioral deficits in neuronal progranulin-insufficient mice. 38
30448285 2019
39
Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses. 38
30877620 2019
40
Caspase 1 activity influences juvenile Batten disease (CLN3) pathogenesis. 38
29873075 2019
41
Microglial Progranulin: Involvement in Alzheimer's Disease and Neurodegenerative Diseases. 38
30862089 2019
42
Astrocytes in juvenile neuronal ceroid lipofuscinosis (CLN3) display metabolic and calcium signaling abnormalities. 38
29964296 2019
43
Therapeutic landscape for Batten disease: current treatments and future prospects. 38
30783219 2019
44
Progranulin Stimulates the In Vitro Maturation of Pro-Cathepsin D at Acidic pH. 38
30690031 2019
45
Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3). 38
30446867 2019
46
Clinical implementation of gene panel testing for lysosomal storage diseases. 38
30548430 2019
47
Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients. 38
30528883 2019
48
De-palmitoylation by N-(tert-Butyl) hydroxylamine inhibits AMPAR-mediated synaptic transmission via affecting receptor distribution in postsynaptic densities. 38
29911316 2019
49
AAV-Mediated Progranulin Delivery to a Mouse Model of Progranulin Deficiency Causes T Cell-Mediated Toxicity. 38
30559071 2019
50
Congenital CLN8 disease of neuronal ceroid lipofuscinosis: a novel phenotype. 38
30741402 2019

Variations for Neuronal Ceroid Lipofuscinosis

ClinVar genetic disease variations for Neuronal Ceroid Lipofuscinosis:

6 (show top 50) (show all 580)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DNAJC5 NM_025219.3(DNAJC5): c.343_345CTC[1] (p.Leu116del) short repeat Pathogenic rs587776892 20:62562228-62562230 20:63930875-63930877
2 TPP1 NM_000391.4(TPP1): c.196C> T (p.Gln66Ter) single nucleotide variant Pathogenic rs759080581 11:6640040-6640040 11:6618809-6618809
3 TPP1 NM_000391.4(TPP1): c.311T> A (p.Leu104Ter) single nucleotide variant Pathogenic rs202189057 11:6638926-6638926 11:6617695-6617695
4 TPP1 NM_000391.4(TPP1): c.379C> T (p.Arg127Ter) single nucleotide variant Pathogenic rs756564767 11:6638858-6638858 11:6617627-6617627
5 TPP1 NM_000391.4(TPP1): c.509-1G> A single nucleotide variant Pathogenic rs56144125 11:6638385-6638385 11:6617154-6617154
6 TPP1 NM_000391.4(TPP1): c.827A> T (p.Asp276Val) single nucleotide variant Pathogenic rs763162812 11:6637951-6637951 11:6616720-6616720
7 TPP1 NM_000391.4(TPP1): c.1397T> G (p.Val466Gly) single nucleotide variant Pathogenic rs398122959 11:6636430-6636430 11:6615199-6615199
8 TPP1 NM_000391.4(TPP1): c.1266G> C (p.Gln422His) single nucleotide variant Pathogenic rs121908200 11:6636673-6636673 11:6615442-6615442
9 TPP1 NM_000391.4(TPP1): c.1166G> A (p.Gly389Glu) single nucleotide variant Pathogenic rs121908199 11:6636773-6636773 11:6615542-6615542
10 CLN5 NM_006493.4(CLN5): c.956_959del (p.Lys319fs) deletion Pathogenic rs386833967 13:77574983-77574986 13:77000848-77000851
11 CLN5 NM_006493.4(CLN5): c.936del (p.Phe312fs) deletion Pathogenic rs386833966 13:77574963-77574963 13:77000828-77000828
12 CLN3 NM_000086.2(CLN3): c.944dup (p.His315fs) duplication Pathogenic rs386833740 16:28493666-28493666 16:28482345-28482345
13 CLN3 NM_000086.2(CLN3): c.622dup (p.Ser208fs) duplication Pathogenic rs386833736 16:28497723-28497723 16:28486402-28486402
14 CLN3 NM_000086.2(CLN3): c.424del (p.Val142fs) deletion Pathogenic rs386833720 16:28498813-28498813 16:28487492-28487492
15 CLN3 NM_000086.2(CLN3): c.214C> T (p.Gln72Ter) single nucleotide variant Pathogenic rs386833709 16:28500619-28500619 16:28489298-28489298
16 PPT1 NM_000310.3(PPT1): c.364A> T (p.Arg122Trp) single nucleotide variant Pathogenic rs137852695 1:40557070-40557070 1:40091398-40091398
17 CLN6 NM_017882.3(CLN6): c.393_394CT[1] (p.Ser132fs) short repeat Pathogenic rs774543080 15:68504103-68504104 15:68211765-68211766
18 CLN3 NM_000086.2(CLN3): c.883G> A (p.Glu295Lys) single nucleotide variant Pathogenic rs121434286 16:28493821-28493821 16:28482500-28482500
19 CLN8 NM_018941.3(CLN8): c.70C> G (p.Arg24Gly) single nucleotide variant Pathogenic rs104894064 8:1719290-1719290 8:1771124-1771124
20 TPP1 NM_000391.4(TPP1): c.851G> T (p.Gly284Val) single nucleotide variant Pathogenic rs119455957 11:6637927-6637927 11:6616696-6616696
21 TPP1 NM_000391.4(TPP1): c.509-1G> C single nucleotide variant Pathogenic rs56144125 11:6638385-6638385 11:6617154-6617154
22 TPP1 NM_000391.4(TPP1): c.622C> T (p.Arg208Ter) single nucleotide variant Pathogenic rs119455955 11:6638271-6638271 11:6617040-6617040
23 CLN5 NM_006493.4(CLN5): c.78G> A (p.Trp26Ter) single nucleotide variant Pathogenic rs104894385 13:77566311-77566311 13:76992176-76992176
24 CLN5 NM_006493.4(CLN5): c.1026_1027AT[1] (p.Thr342_Tyr343insTer) short repeat Pathogenic rs386833969 13:77575055-77575056 13:77000920-77000921
25 TPP1 NM_000391.4(TPP1): c.237C> G (p.Tyr79Ter) single nucleotide variant Pathogenic 11:6639000-6639000 11:6617769-6617769
26 CLN3 NC_000016.9: g.(?_28498757)_(28503100_?)del deletion Pathogenic 16:28498757-28503100 16:28487436-28491779
27 CLN5 NM_006493.4(CLN5): c.187del (p.Arg63fs) deletion Pathogenic rs1555273881 13:77569211-77569211 13:76995076-76995076
28 CLN5 NM_006493.4(CLN5): c.112_113insATCCGGGCTGG (p.Val38fs) insertion Pathogenic rs1555273604 13:77566345-77566346 13:76992210-76992211
29 CLN3 NM_000086.2(CLN3): c.569dup (p.Ala191fs) duplication Pathogenic rs386833732 16:28497776-28497776 16:28486455-28486455
30 CLN3 NC_000016.9: g.(?_28497648)_(28497991_?)del deletion Pathogenic
31 CLN8 NC_000008.10: g.(?_1719201)_(1728753_?)del deletion Pathogenic 8:1719201-1728753 8:1771035-1780587
32 CLN5 NM_006493.4(CLN5): c.566_*1548del (p.Gly189fs) deletion Pathogenic 13:77574593-77576652 13:77000458-77002517
33 CLN3 NC_000016.9: g.(?_28497668)_(28497971_?)del deletion Pathogenic 16:28497668-28497971 16:28486347-28486650
34 CLN3 NC_000016.9: g.(?_28498777)_(28607251_?)del deletion Pathogenic 16:28498777-28607251 16:28487456-28595930
35 CLN8 NM_018941.3(CLN8): c.295C> T (p.Gln99Ter) single nucleotide variant Pathogenic 8:1719515-1719515 8:1771349-1771349
36 CLN5 NC_000013.10: g.(?_77566067)_(77575124_?)del deletion Pathogenic 13:77566067-77575124 13:76991932-77000989
37 CLN6 NC_000015.9: g.(?_68521820)_(68521942_?)del deletion Pathogenic 15:68521820-68521942 15:68229482-68229604
38 CLN6 NC_000015.9: g.(?_68521830)_(68521932_?)del deletion Pathogenic 15:68521830-68521932 15:68229492-68229594
39 CLN8 NC_000008.10: g.(?_1719211)_(1728743_?)del deletion Pathogenic 8:1719211-1728743 8:1771045-1780577
40 CLN3 NC_000016.9: g.(?_28497286)_(28498251_?)del deletion Pathogenic 16:28497286-28498251 16:28485965-28486930
41 TPP1 NM_000391.4(TPP1): c.1676_1677CT[1] (p.Leu560fs) short repeat Pathogenic 11:6635790-6635791 11:6614559-6614560
42 TPP1 NM_000391.4(TPP1): c.325C> T (p.Gln109Ter) single nucleotide variant Pathogenic 11:6638912-6638912 11:6617681-6617681
43 TPP1 NM_000391.4(TPP1): c.1094G> A (p.Cys365Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs119455954 11:6637287-6637287 11:6616056-6616056
44 CLN8 NM_018941.3(CLN8): c.610C> T (p.Arg204Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104894060 8:1728482-1728482 8:1780316-1780316
45 CLN3 NM_000086.2(CLN3): c.597C> A (p.Tyr199Ter) single nucleotide variant Pathogenic/Likely pathogenic rs267606737 16:28497748-28497748 16:28486427-28486427
46 CLN6 NM_017882.3(CLN6): c.150C> G (p.Tyr50Ter) single nucleotide variant Pathogenic/Likely pathogenic rs154774640 15:68510922-68510922 15:68218584-68218584
47 CLN5 NM_006493.4(CLN5): c.524G> A (p.Trp175Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833980 13:77570221-77570221 13:76996086-76996086
48 CLN5 NM_006493.4(CLN5): c.522dup (p.Trp175fs) duplication Pathogenic/Likely pathogenic rs386833979 13:77570219-77570219 13:76996084-76996084
49 CLN3 NM_000086.2(CLN3): c.1001G> A (p.Arg334His) single nucleotide variant Pathogenic/Likely pathogenic rs386833695 16:28493481-28493481 16:28482160-28482160
50 PPT1 NM_000310.3(PPT1): c.628-1G> T single nucleotide variant Pathogenic/Likely pathogenic rs386833659 1:40544331-40544331 1:40078659-40078659

Expression for Neuronal Ceroid Lipofuscinosis

Search GEO for disease gene expression data for Neuronal Ceroid Lipofuscinosis.

Pathways for Neuronal Ceroid Lipofuscinosis

Pathways related to Neuronal Ceroid Lipofuscinosis according to KEGG:

37
# Name Kegg Source Accession
1 Fatty acid elongation hsa00062
2 Lysosome hsa04142

Pathways related to Neuronal Ceroid Lipofuscinosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.41 TPP1 PSAP PPT2 PPT1 MFSD8 M6PR
2 11.14 RAB7A CTSF CTSD

GO Terms for Neuronal Ceroid Lipofuscinosis

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.96 TPP1 RAB7A PSAP PPT2 PPT1 GRN
2 lysosomal membrane GO:0005765 9.76 RAB7A PSAP MFSD8 M6PR DNAJC5 CLN5
3 late endosome GO:0005770 9.62 RAB7A M6PR CLN3 ATP13A2
4 synaptic vesicle GO:0008021 9.58 PPT1 DNAJC5 CLN3
5 melanosome GO:0042470 9.54 TPP1 DNAJC5 CTSD
6 lysosomal lumen GO:0043202 9.5 TPP1 PSAP PPT2 PPT1 CTSF CTSD
7 lysosome GO:0005764 9.44 TPP1 RAB7A PSAP PPT2 PPT1 MFSD8
8 retromer complex GO:0030904 9.13 RAB7A

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.8 RAB7A PSAP GRN DNAJC5 CTSD CAP1
2 receptor-mediated endocytosis GO:0006898 9.73 PPT1 M6PR CLN3 CAP1
3 negative regulation of neuron apoptotic process GO:0043524 9.72 PPT1 DNAJC5 CLN3
4 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.65 RAB7A CTSF CTSD
5 neuromuscular process controlling balance GO:0050885 9.58 TPP1 CLN8 CLN3
6 negative regulation of proteolysis GO:0045861 9.54 CLN8 CLN3
7 associative learning GO:0008306 9.54 PPT1 CLN8 CLN3
8 ceramide metabolic process GO:0006672 9.52 CLN8 CLN3
9 cellular protein catabolic process GO:0044257 9.51 PPT1 CLN8
10 positive regulation of exosomal secretion GO:1903543 9.49 RAB7A ATP13A2
11 fatty-acyl-CoA biosynthetic process GO:0046949 9.46 PPT2 PPT1
12 lysosomal lumen acidification GO:0007042 9.46 PPT1 CLN6 CLN5 CLN3
13 cellular macromolecule catabolic process GO:0044265 9.43 PPT1 CLN8 CLN6
14 lysosome organization GO:0007040 9.43 TPP1 PPT1 MFSD8 CLN8 CLN6 CLN3
15 protein catabolic process GO:0030163 9.17 TPP1 PPT1 CTSD CLN8 CLN6 CLN5

Molecular functions related to Neuronal Ceroid Lipofuscinosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mannose binding GO:0005537 9.26 M6PR CLN5
2 palmitoyl-(protein) hydrolase activity GO:0008474 9.16 PPT2 PPT1
3 retromer complex binding GO:1905394 8.96 RAB7A M6PR
4 palmitoyl hydrolase activity GO:0098599 8.62 PPT2 PPT1

Sources for Neuronal Ceroid Lipofuscinosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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