MCID: NRN021
MIFTS: 60

Neuronal Ceroid Lipofuscinosis

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 77 54 55 38 30 6 15
Hereditary Ceroid Lipofuscinosis 12 77
Neuronal Ceroid-Lipofuscinoses 45 74
Juvenile Neuronal Ceroid Lipofuscinosis 74
Lipofuscinosis, Ceroid, Neuronal 41
Batten Disease 54
Ncl 54

Classifications:



Summaries for Neuronal Ceroid Lipofuscinosis

NIH Rare Diseases : 54 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 Acetylcysteine and Cysteamine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and kidney, and related phenotypes are intellectual disability and seizures

NINDS : 55 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.

Wikipedia : 77 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 97)
# Related Disease Score Top Affiliating Genes
1 adult neuronal ceroid lipofuscinosis 35.1 CLN6 DNAJC5 PPT1 PSAP TPP1
2 ceroid lipofuscinosis, neuronal, 10 34.8 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
3 ceroid lipofuscinosis, neuronal, 3 34.8 CLN3 CLN5 CLN6 CTSD PPT1 TPP1
4 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 34.6 CLN5 CLN6 CLN8 MFSD8
5 ceroid lipofuscinosis, neuronal, 1 34.5 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
6 ceroid lipofuscinosis, neuronal, 7 34.5 CLN3 CLN5 CLN6 CLN8 DNAJC5 MFSD8
7 ceroid lipofuscinosis, neuronal, 13 34.4 CLN5 CLN8 CTSF DNAJC5 KCTD7
8 ceroid lipofuscinosis, neuronal, 2 34.3 CLN3 CLN5 CLN6 CLN8 CTSD CTSF
9 ceroid lipofuscinosis, neuronal, 9 33.9 CLN5 CLN6 CLN8 CLN9 DNAJC5
10 ceroid lipofuscinosis, neuronal, 11 33.6 ATP13A2 CLN3 CLN5 CLN6 CLN8 CTSD
11 ceroid storage disease 32.8 CLN3 CLN5 CLN6 CLN8 DNAJC5 PPT1
12 neuronal ceroid-lipofuscinoses 32.6 CLN3 CLN5 CLN6 CLN8 CTSD CTSF
13 lysosomal storage disease 31.1 CLN3 M6PR PPT1 TPP1
14 mucolipidosis ii alpha/beta 30.5 M6PR PSAP
15 ceroid lipofuscinosis, neuronal, 6 12.8
16 ceroid lipofuscinosis, neuronal, 5 12.8
17 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 12.7
18 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 12.7
19 ceroid lipofuscinosis, neuronal, 8 12.6
20 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 12.2
21 cln4 disease 12.0
22 frontotemporal dementia 10.5
23 retinal degeneration 10.5
24 epilepsy 10.5
25 rett syndrome 10.4
26 left ventricular noncompaction 10.4
27 dementia 10.4
28 cerebral atrophy 10.4 CLN6 CTSD DNAJC5
29 inclusion-cell disease 10.4 CTSD PSAP
30 visual cortex disease 10.3 CLN8 MFSD8
31 retinitis pigmentosa 10.3
32 ataxia and polyneuropathy, adult-onset 10.3
33 aging 10.3
34 leber congenital amaurosis 4 10.3
35 spinocerebellar ataxia, autosomal recessive 7 10.3
36 macular dystrophy with central cone involvement 10.3
37 muscle disorders 10.3
38 choreatic disease 10.3
39 neuroaxonal dystrophy 10.3
40 gm1 gangliosidosis 10.3
41 retinitis 10.3
42 myopathy 10.3
43 hypertrophic cardiomyopathy 10.3
44 gangliosidosis 10.3
45 mucopolysaccharidosis-plus syndrome 10.3
46 hermansky-pudlak syndrome 10.3
47 movement disease 10.3
48 visual pathway disease 10.3 CLN8 MFSD8
49 lipid storage disease 10.3 CLN3 CLN5 CLN6 CLN8 PPT1 PSAP
50 breast cancer 10.2

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:

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

UMLS symptoms related to Neuronal Ceroid Lipofuscinosis:


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

GenomeRNAi Phenotypes related to Neuronal Ceroid Lipofuscinosis according to GeneCards Suite gene sharing:

27 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.64 M6PR
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.64 KCTD7
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.64 M6PR
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.64 M6PR
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.64 KCTD7
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.64 PPT2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 9.64 CTSD
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.64 TAF10
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.64 M6PR
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.64 PPT2 TAF10
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 9.64 M6PR
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.64 CTSD KCTD7 M6PR PPT2 TAF10
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.64 PPT2
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.64 TAF10
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.64 PPT2
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.64 CTSD

MGI Mouse Phenotypes related to Neuronal Ceroid Lipofuscinosis:

47
# 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 31)
# 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 Expectorants Phase 4
4 Free Radical Scavengers Phase 4
5 Antidotes Phase 4
6 Protective Agents Phase 4
7 Anti-Infective Agents Phase 4,Phase 2
8 Respiratory System Agents Phase 4
9 Antioxidants Phase 4
10 N-monoacetylcystine Phase 4
11 Antiviral Agents Phase 4
12
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
13
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
14
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
15
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
16
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
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 Prednisolone acetate Phase 2, Phase 3
20 Antineoplastic Agents, Alkylating Phase 2, Phase 3
21 Methylprednisolone Acetate Phase 2, Phase 3
22 Alkylating Agents Phase 2, Phase 3
23 Immunologic Factors Phase 2, Phase 3
24 Immunosuppressive Agents Phase 2, Phase 3
25 Antilymphocyte Serum Phase 2, Phase 3
26 Antirheumatic Agents 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 Antibiotics, Antitubercular Phase 2
30 Antitubercular Agents Phase 2
31 Anti-Bacterial Agents Phase 2

Interventional clinical trials:

(show all 28)
# Name Status NCT ID Phase Drugs
1 Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00028262 Phase 4 Cystagon
2 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
3 Cellcept for Treatment of Juvenile Neuronal Ceroid Lipofuscinosis Completed NCT01399047 Phase 2 Mycophenolate mofetil;Liquid Placebo
4 A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients With Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2) Disease Completed NCT01907087 Phase 1, Phase 2
5 Gene Transfer Study of AAV9-CLN3 for Treatment NCL Type 3 Recruiting NCT03770572 Phase 1, Phase 2
6 AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT01414985 Phase 1, Phase 2
7 Batten CLN6 Gene Therapy Active, not recruiting NCT02725580 Phase 1, Phase 2 scAVV9.CB.CLN6
8 A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease Active, not recruiting NCT02485899 Phase 1, Phase 2
9 A Safety, Tolerability, and Efficacy Study of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease Enrolling by invitation NCT02678689 Phase 2
10 Study of HuCNS-SC Cells in Patients With Infantile or Late Infantile Neuronal Ceroid Lipofuscinosis (NCL) Completed NCT00337636 Phase 1 Medication to suppress the immune system
11 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
12 Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) Active, not recruiting NCT01161576 Phase 1
13 Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT00151216 Phase 1
14 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
15 Safety and Efficacy Study of HuCNS-SC in Subjects With Neuronal Ceroid Lipofuscinosis Withdrawn NCT01238315 Phase 1
16 Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities Completed NCT01966757
17 Genotype - Phenotype Correlations of LINCL Completed NCT00151268
18 Clinical and Neuropsychological Investigations in Batten Disease Recruiting NCT01873924
19 Investigations of Juvenile Neuronal Ceroid Lipofuscinosis Recruiting NCT03307304
20 Natural History of Neuronal Ceroid Lipofuscinosis, Batten's CLN6 Diseae Recruiting NCT03285425
21 A Natural History Study of Late Infantile Variant CLN7 And CLN5 Disease Recruiting NCT03822650
22 Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease Recruiting NCT03862274
23 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
24 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
25 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
26 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
27 Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT01035424
28 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 30

Anatomical Context for Neuronal Ceroid Lipofuscinosis

MalaCards organs/tissues related to Neuronal Ceroid Lipofuscinosis:

42
Brain, Testes, Kidney, Spleen, Skin, Retina, Cortex

Publications for Neuronal Ceroid Lipofuscinosis

Articles related to Neuronal Ceroid Lipofuscinosis:

(show top 50) (show all 859)
# Title Authors Year
1
Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia. ( 30382371 )
2019
2
Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis. ( 31105743 )
2019
3
A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs. ( 31101435 )
2019
4
Modelling of Neuronal Ceroid Lipofuscinosis Type 2 in Dictyostelium discoideum Suggests That Cytopathological Outcomes Result from Altered TOR Signalling. ( 31100984 )
2019
5
A novel cathepsin D mutation in 2 siblings with late infantile neuronal ceroid lipofuscinosis. ( 31086824 )
2019
6
Cln3-mutations underlying juvenile NCL cause significantly reduced levels of Ppt1-protein and Ppt1-enzyme activity in the lysosome. ( 31025705 )
2019
7
ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis. ( 30956123 )
2019
8
Developmental NMDA receptor dysregulation in the infantile neuronal ceroid lipofuscinosis mouse model. ( 30946007 )
2019
9
Neuronal ceroid lipofuscinosis type-11 in an adolescent. ( 30922528 )
2019
10
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family. ( 30892110 )
2019
11
Epileptological aspects of juvenile neuronal ceroid lipofuscinosis (CLN3 disease) through the lifespan. ( 30884409 )
2019
12
Congenital CLN8 disease of neuronal ceroid lipofuscinosis: a novel phenotype. ( 30741402 )
2019
13
Autophagy-lysosome pathway alterations and alpha-synuclein up-regulation in the subtype of neuronal ceroid lipofuscinosis, CLN5 disease. ( 30655561 )
2019
14
Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients. ( 30528883 )
2019
15
Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis. ( 30470609 )
2019
16
Astrocytes in juvenile neuronal ceroid lipofuscinosis (CLN3) display metabolic and calcium signaling abnormalities. ( 29964296 )
2019
17
Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis). ( 29923092 )
2019
18
Progranulin Gene Therapy Improves Lysosomal Dysfunction and Microglial Pathology Associated with Frontotemporal Dementia and Neuronal Ceroid Lipofuscinosis. ( 29378861 )
2018
19
Neuronal ceroid lipofuscinosis with severe biventricular impairment: a rare genetic disorder with associated myopathy? ( 29182766 )
2018
20
Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation. ( 31059981 )
2018
21
Neuronal ceroid lipofuscinosis related ER membrane protein CLN8 regulates PP2A activity and ceramide levels. ( 30453012 )
2018
22
Untargeted Metabolite Profiling of Cerebrospinal Fluid Uncovers Biomarkers for Severity of Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2, Batten Disease). ( 30323181 )
2018
23
A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report. ( 30285654 )
2018
24
Novel Mutations in CLN5 of Chinese Patients With Neuronal Ceroid Lipofuscinosis. ( 30264640 )
2018
25
Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report. ( 30249282 )
2018
26
A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report. ( 30144815 )
2018
27
Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study. ( 30119717 )
2018
28
Compromised astrocyte function and survival negatively impact neurons in infantile neuronal ceroid lipofuscinosis. ( 30089511 )
2018
29
Paroxysmal sympathetic hyperactivity in Juvenile neuronal ceroid lipofuscinosis (Batten disease). ( 30072301 )
2018
30
Immunomodulation with minocycline rescues retinal degeneration in juvenile neuronal ceroid lipofuscinosis mice highly susceptible to light damage. ( 30042155 )
2018
31
Global and Widespread Local White Matter Abnormalities in Juvenile Neuronal Ceroid Lipofuscinosis. ( 29853519 )
2018
32
Late-onset childhood neuronal ceroid lipofuscinosis: Early clinical and electroencephalographic markers. ( 29778029 )
2018
33
Juvenile-onset neuronal ceroid lipofuscinosis (CLN1) disease with a novel deletion and duplication in the PPT1 gene. ( 29627028 )
2018
34
Characteristics of PPT1 and TPP1 enzymes in neuronal ceroid lipofuscinosis (NCL) 1 and 2 by dried blood spots (DBS) and leukocytes and their application to newborn screening. ( 29599076 )
2018
35
MRI findings of neuronal ceroid lipofuscinosis in a cat. ( 29531776 )
2018
36
Altered Expression of Ganglioside Metabolizing Enzymes Results in GM3 Ganglioside Accumulation in Cerebellar Cells of a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis. ( 29470438 )
2018
37
Neuronal ceroid lipofuscinosis in Salukis is caused by a single base pair insertion in CLN8. ( 29446145 )
2018
38
Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants. ( 29422019 )
2018
39
Inducible transgenic expression of tripeptidyl peptidase 1 in a mouse model of late-infantile neuronal ceroid lipofuscinosis. ( 29408933 )
2018
40
Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder. ( 29284168 )
2018
41
Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease - a new type of neuronal ceroid lipofuscinosis (CLN15)? ( 30591081 )
2018
42
Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis. ( 28428354 )
2017
43
Reply to: Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1. ( 27616753 )
2017
44
Selective depletion of microglial progranulin in mice is not sufficient to cause neuronal ceroid lipofuscinosis or neuroinflammation. ( 29149899 )
2017
45
Defective synaptic transmission causes disease signs in a mouse model of juvenile neuronal ceroid lipofuscinosis. ( 29135436 )
2017
46
Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons. ( 29041969 )
2017
47
Retinal function in patients with the neuronal ceroid lipofuscinosis phenotype. ( 28954019 )
2017
48
Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers. ( 28792770 )
2017
49
Primary fibroblasts from CSPα mutation carriers recapitulate hallmarks of the adult onset neuronal ceroid lipofuscinosis. ( 28740222 )
2017
50
Conditional loss of progranulin in neurons is not sufficient to cause neuronal ceroid lipofuscinosis-like neuropathology in mice. ( 28647554 )
2017

Variations for Neuronal Ceroid Lipofuscinosis

ClinVar genetic disease variations for Neuronal Ceroid Lipofuscinosis:

6 (show top 50) (show all 903)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLN5 NM_006493.2(CLN5): c.1175_1176delAT (p.Tyr392Terfs) deletion Pathogenic rs386833969 GRCh37 Chromosome 13, 77575055: 77575056
2 CLN5 NM_006493.2(CLN5): c.1175_1176delAT (p.Tyr392Terfs) deletion Pathogenic rs386833969 GRCh38 Chromosome 13, 77000920: 77000921
3 CLN5 NM_006493.2(CLN5): c.225G> A (p.Trp75Ter) single nucleotide variant Pathogenic rs104894385 GRCh37 Chromosome 13, 77566311: 77566311
4 CLN5 NM_006493.2(CLN5): c.225G> A (p.Trp75Ter) single nucleotide variant Pathogenic rs104894385 GRCh38 Chromosome 13, 76992176: 76992176
5 CLN5 NM_006493.2(CLN5): c.335G> A (p.Arg112His) single nucleotide variant Uncertain significance rs104894386 GRCh37 Chromosome 13, 77569212: 77569212
6 CLN5 NM_006493.2(CLN5): c.335G> A (p.Arg112His) single nucleotide variant Uncertain significance rs104894386 GRCh38 Chromosome 13, 76995077: 76995077
7 TPP1 NM_000391.3(TPP1): c.1094G> A (p.Cys365Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs119455954 GRCh37 Chromosome 11, 6637287: 6637287
8 TPP1 NM_000391.3(TPP1): c.1094G> A (p.Cys365Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs119455954 GRCh38 Chromosome 11, 6616056: 6616056
9 TPP1 NM_000391.3(TPP1): c.622C> T (p.Arg208Ter) single nucleotide variant Pathogenic rs119455955 GRCh37 Chromosome 11, 6638271: 6638271
10 TPP1 NM_000391.3(TPP1): c.622C> T (p.Arg208Ter) single nucleotide variant Pathogenic rs119455955 GRCh38 Chromosome 11, 6617040: 6617040
11 TPP1 NM_000391.3(TPP1): c.509-1G> C single nucleotide variant Pathogenic rs56144125 GRCh37 Chromosome 11, 6638385: 6638385
12 TPP1 NM_000391.3(TPP1): c.509-1G> C single nucleotide variant Pathogenic rs56144125 GRCh38 Chromosome 11, 6617154: 6617154
13 TPP1 NM_000391.3(TPP1): c.851G> T (p.Gly284Val) single nucleotide variant Pathogenic rs119455957 GRCh37 Chromosome 11, 6637927: 6637927
14 TPP1 NM_000391.3(TPP1): c.851G> T (p.Gly284Val) single nucleotide variant Pathogenic rs119455957 GRCh38 Chromosome 11, 6616696: 6616696
15 CLN6 NM_017882.2(CLN6): c.395_396delCT (p.Ser132Cysfs) deletion Pathogenic rs774543080 GRCh38 Chromosome 15, 68211765: 68211766
16 CLN6 NM_017882.2(CLN6): c.395_396delCT (p.Ser132Cysfs) deletion Pathogenic rs774543080 GRCh37 Chromosome 15, 68504103: 68504104
17 PPT1 NM_000310.3(PPT1): c.364A> T (p.Arg122Trp) single nucleotide variant Pathogenic rs137852695 GRCh37 Chromosome 1, 40557070: 40557070
18 PPT1 NM_000310.3(PPT1): c.364A> T (p.Arg122Trp) single nucleotide variant Pathogenic rs137852695 GRCh38 Chromosome 1, 40091398: 40091398
19 PPT1 NM_000310.3(PPT1): c.451C> T (p.Arg151Ter) single nucleotide variant Pathogenic/Likely pathogenic rs137852700 GRCh37 Chromosome 1, 40555167: 40555167
20 PPT1 NM_000310.3(PPT1): c.451C> T (p.Arg151Ter) single nucleotide variant Pathogenic/Likely pathogenic rs137852700 GRCh38 Chromosome 1, 40089495: 40089495
21 DNAJC5 NM_025219.2(DNAJC5): c.346_348delCTC (p.Leu116del) deletion Pathogenic rs587776892 GRCh37 Chromosome 20, 62562228: 62562230
22 DNAJC5 NM_025219.2(DNAJC5): c.346_348delCTC (p.Leu116del) deletion Pathogenic rs587776892 GRCh38 Chromosome 20, 63930875: 63930877
23 PPT1 NM_000310.3(PPT1): c.169dupA (p.Met57Asnfs) duplication Pathogenic/Likely pathogenic rs386833634 GRCh37 Chromosome 1, 40558135: 40558135
24 PPT1 NM_000310.3(PPT1): c.169dupA (p.Met57Asnfs) duplication Pathogenic/Likely pathogenic rs386833634 GRCh38 Chromosome 1, 40092463: 40092463
25 PPT1 NM_000310.3(PPT1): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs386833645 GRCh37 Chromosome 1, 40562908: 40562908
26 PPT1 NM_000310.3(PPT1): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs386833645 GRCh38 Chromosome 1, 40097236: 40097236
27 PPT1 NM_000310.3(PPT1): c.536+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs386833651 GRCh37 Chromosome 1, 40555081: 40555081
28 PPT1 NM_000310.3(PPT1): c.536+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs386833651 GRCh38 Chromosome 1, 40089409: 40089409
29 PPT1 NM_000310.3(PPT1): c.628-1G> T single nucleotide variant Pathogenic/Likely pathogenic rs386833659 GRCh37 Chromosome 1, 40544331: 40544331
30 PPT1 NM_000310.3(PPT1): c.628-1G> T single nucleotide variant Pathogenic/Likely pathogenic rs386833659 GRCh38 Chromosome 1, 40078659: 40078659
31 CLN3 NM_001042432.1(CLN3): c.1000C> T (p.Arg334Cys) single nucleotide variant Likely pathogenic rs386833694 GRCh37 Chromosome 16, 28493482: 28493482
32 CLN3 NM_001042432.1(CLN3): c.1000C> T (p.Arg334Cys) single nucleotide variant Likely pathogenic rs386833694 GRCh38 Chromosome 16, 28482161: 28482161
33 CLN3 NM_001042432.1(CLN3): c.1001G> A (p.Arg334His) single nucleotide variant Pathogenic/Likely pathogenic rs386833695 GRCh37 Chromosome 16, 28493481: 28493481
34 CLN3 NM_001042432.1(CLN3): c.1001G> A (p.Arg334His) single nucleotide variant Pathogenic/Likely pathogenic rs386833695 GRCh38 Chromosome 16, 28482160: 28482160
35 CLN3 NM_001042432.1(CLN3): c.622dupT (p.Ser208Phefs) duplication Pathogenic rs386833736 GRCh37 Chromosome 16, 28497723: 28497723
36 CLN3 NM_001042432.1(CLN3): c.622dupT (p.Ser208Phefs) duplication Pathogenic rs386833736 GRCh38 Chromosome 16, 28486402: 28486402
37 CLN3 NM_001042432.1(CLN3): c.944dupA (p.His315Glnfs) duplication Pathogenic rs386833740 GRCh37 Chromosome 16, 28493666: 28493666
38 CLN3 NM_001042432.1(CLN3): c.944dupA (p.His315Glnfs) duplication Pathogenic rs386833740 GRCh38 Chromosome 16, 28482345: 28482345
39 CLN5 NM_006493.2(CLN5): c.1103_1106delAACA (p.Lys368Serfs) deletion Pathogenic rs386833967 GRCh37 Chromosome 13, 77574983: 77574986
40 CLN5 NM_006493.2(CLN5): c.1103_1106delAACA (p.Lys368Serfs) deletion Pathogenic rs386833967 GRCh38 Chromosome 13, 77000848: 77000851
41 CLN5 NM_006493.2(CLN5): c.669dupC (p.Trp224Leufs) duplication Pathogenic/Likely pathogenic rs386833979 GRCh37 Chromosome 13, 77570219: 77570219
42 CLN5 NM_006493.2(CLN5): c.669dupC (p.Trp224Leufs) duplication Pathogenic/Likely pathogenic rs386833979 GRCh38 Chromosome 13, 76996084: 76996084
43 CLN8 NM_018941.3(CLN8): c.209G> A (p.Arg70His) single nucleotide variant Conflicting interpretations of pathogenicity rs386834124 GRCh37 Chromosome 8, 1719429: 1719429
44 CLN8 NM_018941.3(CLN8): c.209G> A (p.Arg70His) single nucleotide variant Conflicting interpretations of pathogenicity rs386834124 GRCh38 Chromosome 8, 1771263: 1771263
45 CLN8 NM_018941.3(CLN8): c.611G> T (p.Arg204Leu) single nucleotide variant Uncertain significance rs386834134 GRCh37 Chromosome 8, 1728483: 1728483
46 CLN8 NM_018941.3(CLN8): c.611G> T (p.Arg204Leu) single nucleotide variant Uncertain significance rs386834134 GRCh38 Chromosome 8, 1780317: 1780317
47 CLN6 NM_017882.2(CLN6): c.150C> G (p.Tyr50Ter) single nucleotide variant Pathogenic/Likely pathogenic rs154774640 GRCh37 Chromosome 15, 68510922: 68510922
48 CLN6 NM_017882.2(CLN6): c.150C> G (p.Tyr50Ter) single nucleotide variant Pathogenic/Likely pathogenic rs154774640 GRCh38 Chromosome 15, 68218584: 68218584
49 CLN6 NM_017882.2(CLN6): c.446G> A (p.Arg149His) single nucleotide variant Uncertain significance rs154774638 GRCh37 Chromosome 15, 68504053: 68504053
50 CLN6 NM_017882.2(CLN6): c.446G> A (p.Arg149His) single nucleotide variant Uncertain significance rs154774638 GRCh38 Chromosome 15, 68211715: 68211715

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:

38
# 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 CLN3 CLN5 CTSD CTSF M6PR MFSD8
2 11.14 CTSD CTSF RAB7A

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 CAP1 CLN5 CTSD CTSF GRN PPT1
2 lysosomal membrane GO:0005765 9.76 ATP13A2 CLN3 CLN5 DNAJC5 M6PR MFSD8
3 late endosome GO:0005770 9.62 ATP13A2 CLN3 M6PR RAB7A
4 synaptic vesicle GO:0008021 9.58 CLN3 DNAJC5 PPT1
5 melanosome GO:0042470 9.54 CTSD DNAJC5 TPP1
6 lysosomal lumen GO:0043202 9.5 ATP13A2 CTSD CTSF PPT1 PPT2 PSAP
7 lysosome GO:0005764 9.44 ATP13A2 CLN3 CLN5 CTSD CTSF GRN
8 retromer complex GO:0030904 9.43 M6PR 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 CAP1 CTSD DNAJC5 GRN PSAP RAB7A
2 receptor-mediated endocytosis GO:0006898 9.73 CAP1 CLN3 M6PR PPT1
3 negative regulation of neuron apoptotic process GO:0043524 9.71 CLN3 DNAJC5 PPT1
4 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.65 CTSD CTSF RAB7A
5 negative regulation of proteolysis GO:0045861 9.55 CLN3 CLN8
6 ceramide metabolic process GO:0006672 9.52 CLN3 CLN8
7 positive regulation of exosomal secretion GO:1903543 9.49 ATP13A2 RAB7A
8 fatty-acyl-CoA biosynthetic process GO:0046949 9.46 PPT1 PPT2
9 lysosomal lumen acidification GO:0007042 9.46 CLN3 CLN5 CLN6 PPT1
10 neuromuscular process controlling balance GO:0050885 9.4 CLN3 TPP1
11 associative learning GO:0008306 9.37 CLN3 PPT1
12 lysosome organization GO:0007040 9.35 CLN3 CLN6 MFSD8 PPT1 TPP1
13 cellular macromolecule catabolic process GO:0044265 9.26 CLN6 PPT1
14 cellular protein catabolic process GO:0044257 9.21 PPT1
15 protein catabolic process GO:0030163 9.17 CLN3 CLN5 CLN6 CLN8 CTSD PPT1

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 CLN5 M6PR
2 palmitoyl-(protein) hydrolase activity GO:0008474 9.16 PPT1 PPT2
3 retromer complex binding GO:1905394 8.96 M6PR RAB7A
4 palmitoyl hydrolase activity GO:0098599 8.62 PPT1 PPT2

Sources for Neuronal Ceroid Lipofuscinosis

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
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