MCID: NRN021
MIFTS: 61

Neuronal Ceroid Lipofuscinosis

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

Aliases & Classifications for Neuronal Ceroid Lipofuscinosis

MalaCards integrated aliases for Neuronal Ceroid Lipofuscinosis:

Name: Neuronal Ceroid Lipofuscinosis 12 76 53 54 37 29 6 15
Hereditary Ceroid Lipofuscinosis 12 76
Neuronal Ceroid-Lipofuscinoses 44 73
Juvenile Neuronal Ceroid Lipofuscinosis 73
Lipofuscinosis, Ceroid, Neuronal 40
Batten Disease 53
Ncl 53

Classifications:



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, 3, and has symptoms including myoclonus, seizures and abnormality of extrapyramidal motor function. An important gene associated with Neuronal Ceroid Lipofuscinosis is TPP1 (Tripeptidyl Peptidase 1), 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 spleen, and related phenotypes are visual impairment and abnormal electroretinogram

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. Becasue 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 now 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 : 76 Neuronal ceroid lipofuscinosis (NCL) is the general name for a family of at least eight genetically... 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 69)
# Related Disease Score Top Affiliating Genes
1 adult neuronal ceroid lipofuscinosis 35.3 CLN6 DNAJC5 PPT1 PSAP TPP1
2 ceroid lipofuscinosis, neuronal, 3 35.0 CLN3 CLN5 CTSD PPT1 TPP1
3 ceroid lipofuscinosis, neuronal, 10 35.0 CLN3 CLN5 CLN6 CLN8 CTSD KCTD7
4 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 34.8 CLN5 CLN6 CLN8 MFSD8
5 ceroid lipofuscinosis, neuronal, 7 34.7 CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1
6 ceroid lipofuscinosis, neuronal, 1 34.5 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
7 ceroid lipofuscinosis, neuronal, 13 34.4 CLN5 CLN8 CTSF DNAJC5 KCTD7
8 ceroid lipofuscinosis, neuronal, 2 34.2 CLN3 CLN5 CLN6 CLN8 CTSD CTSF
9 ceroid lipofuscinosis, neuronal, 11 33.4 ATP13A2 CLN3 CLN5 CLN6 CLN8 CTSD
10 ceroid lipofuscinosis, neuronal, 9 33.2 CLN5 CLN6 CLN8 CLN9 MFSD8
11 neuronal ceroid-lipofuscinoses 32.4 CLN3 CLN5 CLN6 CLN8 CTSD CTSF
12 lysosomal storage disease 31.2 CLN3 M6PR PPT1 TPP1
13 ceroid lipofuscinosis, neuronal, 5 12.6
14 ceroid lipofuscinosis, neuronal, 6 12.6
15 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 12.5
16 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 12.4
17 ceroid lipofuscinosis, neuronal, 8 12.4
18 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 12.0
19 cln4 disease 11.8
20 neuronitis 11.4
21 cerebral atrophy 10.8 CLN6 CLN8 DNAJC5
22 inclusion-cell disease 10.7 CTSD PSAP
23 ceroid storage disease 10.7 CLN3 CLN5 CLN6 CLN8 DNAJC5 PPT1
24 retinitis 10.7
25 visual pathway disease 10.6 CLN8 MFSD8
26 lipid storage disease 10.6 CLN3 CLN5 CLN6 CLN8 PPT1 PSAP
27 visual epilepsy 10.5 CLN3 CLN5 CLN6 CLN8 DNAJC5 KCTD7
28 retinal degeneration 10.4
29 visual cortex disease 10.4 CLN8 MFSD8
30 aging 10.3
31 epilepsy 10.3
32 retinitis pigmentosa 10.2
33 rett syndrome 10.2
34 leber congenital amaurosis 4 10.2
35 left ventricular noncompaction 10.2
36 hypertrophic cardiomyopathy 10.2
37 dementia 10.2
38 neuroaxonal dystrophy 10.2
39 gangliosidosis gm1 10.2
40 cerebritis 10.2
41 myopathy 10.2
42 breast cancer 10.0
43 spinocerebellar ataxia 7 10.0
44 aspartylglucosaminuria 10.0
45 krabbe disease 10.0
46 mucolipidosis ii alpha/beta 10.0
47 neurodegeneration with brain iron accumulation 2a 10.0
48 choroideremia 10.0
49 retinitis pigmentosa-deafness syndrome 10.0
50 frontotemporal dementia 10.0

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:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 hallmark (90%) HP:0000505
2 abnormal electroretinogram 32 hallmark (90%) HP:0000512
3 visual loss 32 hallmark (90%) HP:0000572
4 optic atrophy 32 frequent (33%) HP:0000648
5 behavioral abnormality 32 occasional (7.5%) HP:0000708
6 ocular albinism 32 hallmark (90%) HP:0001107
7 intellectual disability 32 hallmark (90%) HP:0001249
8 seizures 32 hallmark (90%) HP:0001250
9 ataxia 32 occasional (7.5%) HP:0001251
10 muscular hypotonia 32 hallmark (90%) HP:0001252
11 mental deterioration 32 hallmark (90%) HP:0001268
12 abnormality of metabolism/homeostasis 32 frequent (33%) HP:0001939
13 neurological speech impairment 32 frequent (33%) HP:0002167
14 eeg abnormality 32 hallmark (90%) HP:0002353
15 developmental regression 32 frequent (33%) HP:0002376
16 abnormality of the retinal vasculature 32 hallmark (90%) HP:0008046
17 abnormality of movement 32 frequent (33%) HP:0100022

UMLS symptoms related to Neuronal Ceroid Lipofuscinosis:


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

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

26 (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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.35 CTSD ATP13A2 CTSF CLN3 DNAJC5 GAD2
2 mortality/aging MP:0010768 10.24 GRN CLN8 CTSD CTSF CLN3 DNAJC5
3 cellular MP:0005384 10.2 GRN CTSD ATP13A2 CLN3 PPT2 M6PR
4 hematopoietic system MP:0005397 10.13 GRN CTSD ATP13A2 CLN3 CLN6 PPT2
5 nervous system MP:0003631 10.13 CTSD ATP13A2 CTSF CLN3 DNAJC5 CLN5
6 immune system MP:0005387 10.1 CTSD ATP13A2 CLN3 GAD2 GRN PPT2
7 muscle MP:0005369 9.87 DNAJC5 GAD2 PPT2 PSAP MFSD8 PPT1
8 pigmentation MP:0001186 9.63 GRN CLN8 ATP13A2 PPT2 MFSD8 PPT1
9 reproductive system MP:0005389 9.56 CLN8 CLN3 DNAJC5 GAD2 GRN PPT2
10 vision/eye MP:0005391 9.36 GRN CLN8 CTSD CLN3 DNAJC5 CLN5

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 Antidotes Phase 4
4 Anti-Infective Agents Phase 4,Phase 2
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 Antineoplastic Agents, Alkylating Phase 2, Phase 3
18 Antirheumatic Agents Phase 2, Phase 3
19 Immunosuppressive Agents Phase 2, Phase 3
20 Methylprednisolone acetate Phase 2, Phase 3
21 Methylprednisolone Hemisuccinate Phase 2, Phase 3
22 Prednisolone acetate Phase 2, Phase 3
23 Prednisolone hemisuccinate Phase 2, Phase 3
24 Prednisolone phosphate Phase 2, Phase 3
25
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
26
Mycophenolic acid Approved Phase 2 24280-93-1 446541
27
Omeprazole Approved, Investigational, Vet_approved Phase 2 73590-58-6 4594
28 Anti-Bacterial Agents Phase 2
29 Antibiotics, Antitubercular Phase 2
30 Antitubercular Agents Phase 2
31
Menthol Approved Phase 1 2216-51-5 16666

Interventional clinical trials:

(show all 25)
# 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 Batten CLN6 Gene Therapy Recruiting NCT02725580 Phase 1, Phase 2 scAVV9.CB.CLN6
6 AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis 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 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 Medication to suppress the immune system
10 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
11 Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) Active, not recruiting NCT01161576 Phase 1
12 Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT00151216 Phase 1
13 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
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 Investigations of Juvenile Neuronal Ceroid Lipofuscinosis Recruiting NCT03307304
19 Natural History of Neuronal Ceroid Lipofuscinosis, Batten's CLN6 Diseae Recruiting NCT03285425
20 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
21 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
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 Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT01035424
25 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, Spleen, Kidney, Liver, Skin, Cortex

Publications for Neuronal Ceroid Lipofuscinosis

Articles related to Neuronal Ceroid Lipofuscinosis:

(show top 50) (show all 651)
# Title Authors Year
1
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
2
Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis). ( 29923092 )
2018
3
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
4
Late-onset childhood neuronal ceroid lipofuscinosis: Early clinical and electroencephalographic markers. ( 29778029 )
2018
5
Global and Widespread Local White Matter Abnormalities in Juvenile Neuronal Ceroid Lipofuscinosis. ( 29853519 )
2018
6
Progranulin Gene Therapy Improves Lysosomal Dysfunction and Microglial Pathology Associated with Frontotemporal Dementia and Neuronal Ceroid Lipofuscinosis. ( 29378861 )
2018
7
MRI findings of neuronal ceroid lipofuscinosis in a cat. ( 29531776 )
2018
8
Inducible transgenic expression of tripeptidyl peptidase 1 in a mouse model of late-infantile neuronal ceroid lipofuscinosis. ( 29408933 )
2018
9
Neuronal ceroid lipofuscinosis with severe biventricular impairment: a rare genetic disorder with associated myopathy? ( 29182766 )
2018
10
Juvenile-onset neuronal ceroid lipofuscinosis (CLN1) disease with a novel deletion and duplication in the PPT1 gene. ( 29627028 )
2018
11
Neuronal ceroid lipofuscinosis in Salukis is caused by a single base pair insertion in CLN8. ( 29446145 )
2018
12
Astrocytes in Juvenile Neuronal Ceroid Lipofuscinosis (CLN3) display metabolic and calcium signaling abnormalities. ( 29964296 )
2018
13
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
14
Gemfibrozil, food and drug administration-approved lipid-lowering drug, increases longevity in mouse model of late infantile neuronal ceroid lipofuscinosis. ( 28199020 )
2017
15
Retinal function in patients with the neuronal ceroid lipofuscinosis phenotype. ( 28954019 )
2017
16
Chronic Enzyme Replacement to the Brain of a Late Infantile Neuronal Ceroid Lipofuscinosis Mouse Has Differential Effects on Phenotypes of Disease. ( 28345005 )
2017
17
Defective synaptic transmission causes disease signs in a mouse model of juvenile neuronal ceroid lipofuscinosis. ( 29135436 )
2017
18
Fingolimod and Teriflunomide Attenuate Neurodegeneration in Mouse Models of Neuronal Ceroid Lipofuscinosis. ( 28506594 )
2017
19
Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder. ( 29284168 )
2017
20
Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis. ( 28404863 )
2017
21
Homozygous PPT1 Splice Donor Mutation in a Cane Corso Dog With Neuronal Ceroid Lipofuscinosis. ( 28008682 )
2017
22
Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis. ( 28428354 )
2017
23
Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease. ( 28334871 )
2017
24
in vivo localization of the neuronal ceroid lipofuscinosis proteins, CLN3 and CLN7, at endogenous expression levels. ( 28365214 )
2017
25
Primary fibroblasts from CSPI+ mutation carriers recapitulate hallmarks of the adult onset neuronal ceroid lipofuscinosis. ( 28740222 )
2017
26
Safety and potential efficacy of gemfibrozil as a supportive treatment for children with late infantile neuronal ceroid lipofuscinosis and other lipid storage disorders. ( 28623936 )
2017
27
Long-term follow-up of two siblings with adult-onset neuronal ceroid lipofuscinosis, Kufs type A. ( 28587997 )
2017
28
Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease. ( 28632327 )
2017
29
Selective depletion of microglial progranulin in mice is not sufficient to cause neuronal ceroid lipofuscinosis or neuroinflammation. ( 29149899 )
2017
30
Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers. ( 28792770 )
2017
31
Extra-neuronal pathology in a canine model of CLN2 neuronal ceroid lipofuscinosis after intracerebroventricular gene therapy that delays neurological disease progression. ( 28079862 )
2017
32
Conditional loss of progranulin in neurons is not sufficient to cause neuronal ceroid lipofuscinosis-like neuropathology in mice. ( 28647554 )
2017
33
Mouse models of kufor-rakeb disease link Parkinson's disease closer to neuronal ceroid lipofuscinosis, suggesting lysosomal dysfunction as shared mechanism. ( 28071821 )
2017
34
A cluster of palmitoylated cysteines are essential for aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis. ( 28127059 )
2017
35
Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons. ( 29041969 )
2017
36
Manifestation of neuronal ceroid lipofuscinosis in Australian Merino sheep: observations on altered behaviour and growth. ( 26949278 )
2016
37
A canine model for neuronal ceroid lipofuscinosis highlights the promise of gene therapy for lysosomal storage diseases. ( 27867988 )
2016
38
Revisiting the neuronal localization and trafficking of CLN3 in juvenile neuronal ceroid lipofuscinosis. ( 27453211 )
2016
39
MFSD8 single-base pair deletion in a Chihuahua with neuronal ceroid lipofuscinosis. ( 27145727 )
2016
40
Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis. ( 27553878 )
2016
41
Unique Characteristics of the Photoparoxysmal Response in Patients With Neuronal Ceroid Lipofuscinosis Type 2: Can EEG Be a Biomarker? ( 27445018 )
2016
42
CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis). ( 27491216 )
2016
43
MRI Brain Volume Measurements in Infantile Neuronal Ceroid Lipofuscinosis. ( 27765741 )
2016
44
Reply to: Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1. ( 27616753 )
2016
45
Data on characterizing the gene expression patterns of neuronal ceroid lipofuscinosis genes: CLN1, CLN2, CLN3, CLN5 and their association to interneuron and neurotransmission markers: Parvalbumin and Somatostatin. ( 27508227 )
2016
46
Portuguese family with the co-occurrence of frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis phenotypes due to progranulin gene mutation. ( 27021778 )
2016
47
Volumetric Description of Brain Atrophy in Neuronal Ceroid Lipofuscinosis 2: Supratentorial Gray Matter Shows Uniform Disease Progression. ( 27231226 )
2016
48
Brain Region-Specific Degeneration with Disease Progression in Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2 Disease). ( 26822727 )
2016
49
GPi deep brain stimulation for palliation of hemidystonia and hemibody jerking in a patient with suspected adult onset neuronal ceroid lipofuscinosis. ( 26944153 )
2016
50
Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease). ( 26748992 )
2016

Variations for Neuronal Ceroid Lipofuscinosis

ClinVar genetic disease variations for Neuronal Ceroid Lipofuscinosis:

6
(show top 50) (show all 581)
# Gene Variation Type Significance SNP ID Assembly Location
1 TPP1 NM_000391.3(TPP1): c.1094G> A (p.Cys365Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs119455954 GRCh37 Chromosome 11, 6637287: 6637287
2 TPP1 NM_000391.3(TPP1): c.1094G> A (p.Cys365Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs119455954 GRCh38 Chromosome 11, 6616056: 6616056
3 TPP1 NM_000391.3(TPP1): c.622C> T (p.Arg208Ter) single nucleotide variant Pathogenic rs119455955 GRCh37 Chromosome 11, 6638271: 6638271
4 TPP1 NM_000391.3(TPP1): c.622C> T (p.Arg208Ter) single nucleotide variant Pathogenic rs119455955 GRCh38 Chromosome 11, 6617040: 6617040
5 TPP1 NM_000391.3(TPP1): c.509-1G> C single nucleotide variant Pathogenic rs56144125 GRCh37 Chromosome 11, 6638385: 6638385
6 TPP1 NM_000391.3(TPP1): c.509-1G> C single nucleotide variant Pathogenic rs56144125 GRCh38 Chromosome 11, 6617154: 6617154
7 TPP1 NM_000391.3(TPP1): c.851G> T (p.Gly284Val) single nucleotide variant Pathogenic rs119455957 GRCh37 Chromosome 11, 6637927: 6637927
8 TPP1 NM_000391.3(TPP1): c.851G> T (p.Gly284Val) single nucleotide variant Pathogenic rs119455957 GRCh38 Chromosome 11, 6616696: 6616696
9 CLN6 NM_017882.2(CLN6): c.395_396delCT (p.Ser132Cysfs) deletion Pathogenic rs774543080 GRCh38 Chromosome 15, 68211765: 68211766
10 CLN6 NM_017882.2(CLN6): c.395_396delCT (p.Ser132Cysfs) deletion Pathogenic rs774543080 GRCh37 Chromosome 15, 68504103: 68504104
11 PPT1 NM_000310.3(PPT1): c.364A> T (p.Arg122Trp) single nucleotide variant Pathogenic rs137852695 GRCh37 Chromosome 1, 40557070: 40557070
12 PPT1 NM_000310.3(PPT1): c.364A> T (p.Arg122Trp) single nucleotide variant Pathogenic rs137852695 GRCh38 Chromosome 1, 40091398: 40091398
13 PPT1 NM_000310.3(PPT1): c.451C> T (p.Arg151Ter) single nucleotide variant Pathogenic rs137852700 GRCh37 Chromosome 1, 40555167: 40555167
14 PPT1 NM_000310.3(PPT1): c.451C> T (p.Arg151Ter) single nucleotide variant Pathogenic rs137852700 GRCh38 Chromosome 1, 40089495: 40089495
15 DNAJC5 NM_025219.2(DNAJC5): c.346_348delCTC (p.Leu116del) deletion Pathogenic rs587776892 GRCh37 Chromosome 20, 62562228: 62562230
16 DNAJC5 NM_025219.2(DNAJC5): c.346_348delCTC (p.Leu116del) deletion Pathogenic rs587776892 GRCh38 Chromosome 20, 63930875: 63930877
17 PPT1 NM_000310.3(PPT1): c.169dupA (p.Met57Asnfs) duplication Pathogenic/Likely pathogenic rs386833634 GRCh37 Chromosome 1, 40558135: 40558135
18 PPT1 NM_000310.3(PPT1): c.169dupA (p.Met57Asnfs) duplication Pathogenic/Likely pathogenic rs386833634 GRCh38 Chromosome 1, 40092463: 40092463
19 PPT1 NM_000310.3(PPT1): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs386833645 GRCh37 Chromosome 1, 40562908: 40562908
20 PPT1 NM_000310.3(PPT1): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs386833645 GRCh38 Chromosome 1, 40097236: 40097236
21 PPT1 NM_000310.3(PPT1): c.536+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs386833651 GRCh37 Chromosome 1, 40555081: 40555081
22 PPT1 NM_000310.3(PPT1): c.536+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs386833651 GRCh38 Chromosome 1, 40089409: 40089409
23 PPT1 NM_000310.3(PPT1): c.628-1G> T single nucleotide variant Pathogenic/Likely pathogenic rs386833659 GRCh37 Chromosome 1, 40544331: 40544331
24 PPT1 NM_000310.3(PPT1): c.628-1G> T single nucleotide variant Pathogenic/Likely pathogenic rs386833659 GRCh38 Chromosome 1, 40078659: 40078659
25 CLN3 NM_001042432.1(CLN3): c.1000C> T (p.Arg334Cys) single nucleotide variant Likely pathogenic rs386833694 GRCh37 Chromosome 16, 28493482: 28493482
26 CLN3 NM_001042432.1(CLN3): c.1000C> T (p.Arg334Cys) single nucleotide variant Likely pathogenic rs386833694 GRCh38 Chromosome 16, 28482161: 28482161
27 CLN3 NM_001042432.1(CLN3): c.622dupT (p.Ser208Phefs) duplication Pathogenic rs386833736 GRCh37 Chromosome 16, 28497723: 28497723
28 CLN3 NM_001042432.1(CLN3): c.622dupT (p.Ser208Phefs) duplication Pathogenic rs386833736 GRCh38 Chromosome 16, 28486402: 28486402
29 CLN3 NM_001042432.1(CLN3): c.944dupA (p.His315Glnfs) duplication Pathogenic rs386833740 GRCh37 Chromosome 16, 28493666: 28493666
30 CLN3 NM_001042432.1(CLN3): c.944dupA (p.His315Glnfs) duplication Pathogenic rs386833740 GRCh38 Chromosome 16, 28482345: 28482345
31 CLN5 NM_006493.2(CLN5): c.1103_1106delAACA (p.Lys368Serfs) deletion Pathogenic rs386833967 GRCh37 Chromosome 13, 77574983: 77574986
32 CLN5 NM_006493.2(CLN5): c.1103_1106delAACA (p.Lys368Serfs) deletion Pathogenic rs386833967 GRCh38 Chromosome 13, 77000848: 77000851
33 TPP1 NM_000391.3(TPP1): c.1166G> A (p.Gly389Glu) single nucleotide variant Pathogenic rs121908199 GRCh37 Chromosome 11, 6636773: 6636773
34 TPP1 NM_000391.3(TPP1): c.1166G> A (p.Gly389Glu) single nucleotide variant Pathogenic rs121908199 GRCh38 Chromosome 11, 6615542: 6615542
35 TPP1 NM_000391.3(TPP1): c.1266G> C (p.Gln422His) single nucleotide variant Pathogenic rs121908200 GRCh37 Chromosome 11, 6636673: 6636673
36 TPP1 NM_000391.3(TPP1): c.1266G> C (p.Gln422His) single nucleotide variant Pathogenic rs121908200 GRCh38 Chromosome 11, 6615442: 6615442
37 TPP1 NM_000391.3(TPP1): c.617G> A (p.Arg206His) single nucleotide variant Likely pathogenic rs121908209 GRCh37 Chromosome 11, 6638276: 6638276
38 TPP1 NM_000391.3(TPP1): c.617G> A (p.Arg206His) single nucleotide variant Likely pathogenic rs121908209 GRCh38 Chromosome 11, 6617045: 6617045
39 TPP1 NM_000391.3(TPP1): c.1397T> G (p.Val466Gly) single nucleotide variant Pathogenic rs398122959 GRCh37 Chromosome 11, 6636430: 6636430
40 TPP1 NM_000391.3(TPP1): c.1397T> G (p.Val466Gly) single nucleotide variant Pathogenic rs398122959 GRCh38 Chromosome 11, 6615199: 6615199
41 CLN5 NM_006493.2(CLN5): c.2T> C (p.Met1Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201615354 GRCh37 Chromosome 13, 77566088: 77566088
42 CLN5 NM_006493.2(CLN5): c.2T> C (p.Met1Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201615354 GRCh38 Chromosome 13, 76991953: 76991953
43 TPP1 NM_000391.3(TPP1): c.1379G> A (p.Trp460Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204753 GRCh38 Chromosome 11, 6615217: 6615217
44 TPP1 NM_000391.3(TPP1): c.1379G> A (p.Trp460Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204753 GRCh37 Chromosome 11, 6636448: 6636448
45 CLN5 NM_006493.2(CLN5): c.924_925delAT (p.Phe309Serfs) deletion Pathogenic/Likely pathogenic rs786204644 GRCh37 Chromosome 13, 77574804: 77574805
46 CLN5 NM_006493.2(CLN5): c.924_925delAT (p.Phe309Serfs) deletion Pathogenic/Likely pathogenic rs786204644 GRCh38 Chromosome 13, 77000669: 77000670
47 CLN5 NM_006493.2(CLN5): c.61C> T (p.Pro21Ser) single nucleotide variant Benign/Likely benign rs200353554 GRCh37 Chromosome 13, 77566147: 77566147
48 CLN5 NM_006493.2(CLN5): c.61C> T (p.Pro21Ser) single nucleotide variant Benign/Likely benign rs200353554 GRCh38 Chromosome 13, 76992012: 76992012
49 CLN6 NM_017882.2(CLN6): c.53C> T (p.Ala18Val) single nucleotide variant Conflicting interpretations of pathogenicity rs547125345 GRCh37 Chromosome 15, 68521870: 68521870
50 CLN6 NM_017882.2(CLN6): c.53C> T (p.Ala18Val) single nucleotide variant Conflicting interpretations of pathogenicity rs547125345 GRCh38 Chromosome 15, 68229532: 68229532

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 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 lysosomal membrane GO:0005765 9.76 ATP13A2 CLN3 CLN5 DNAJC5 M6PR MFSD8
2 synaptic vesicle GO:0008021 9.61 CLN3 DNAJC5 PPT1
3 melanosome GO:0042470 9.58 CTSD DNAJC5 TPP1
4 late endosome GO:0005770 9.56 ATP13A2 CLN3 M6PR RAB7A
5 lysosomal lumen GO:0043202 9.5 ATP13A2 CTSD CTSF PPT1 PPT2 PSAP
6 retromer complex GO:0030904 9.46 M6PR RAB7A
7 lysosome GO:0005764 9.44 ATP13A2 CLN3 CLN5 CTSD CTSF GRN
8 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane GO:0061202 9.32 DNAJC5 GAD2
9 extracellular exosome GO:0070062 10.07 CLN5 CTSD CTSF DNAJC5 GRN PPT1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.77 CTSD DNAJC5 GRN PSAP RAB7A
2 negative regulation of neuron apoptotic process GO:0043524 9.69 CLN3 DNAJC5 PPT1
3 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.61 CTSD CTSF RAB7A
4 lysosome organization GO:0007040 9.55 CLN3 CLN6 MFSD8 PPT1 TPP1
5 negative regulation of proteolysis GO:0045861 9.52 CLN3 CLN8
6 neurotransmitter secretion GO:0007269 9.5 DNAJC5 GAD2 PPT1
7 bone resorption GO:0045453 9.49 RAB7A TPP1
8 ceramide metabolic process GO:0006672 9.48 CLN3 CLN8
9 positive regulation of exosomal secretion GO:1903543 9.46 ATP13A2 RAB7A
10 fatty-acyl-CoA biosynthetic process GO:0046949 9.4 PPT1 PPT2
11 cellular macromolecule catabolic process GO:0044265 9.26 CLN6 PPT1
12 lysosomal lumen acidification GO:0007042 9.26 CLN3 CLN5 CLN6 PPT1
13 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 9.32 CLN5 M6PR
2 palmitoyl-(protein) hydrolase activity GO:0008474 9.26 PPT1 PPT2
3 thiolester hydrolase activity GO:0016790 9.16 PPT1 PPT2
4 retromer complex binding GO:1905394 8.96 M6PR RAB7A
5 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 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
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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