NCL
MCID: NRN021
MIFTS: 65

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 74 20 53 58 36 29 6 15 32
Hereditary Ceroid Lipofuscinosis 12 74
Neuronal Ceroid-Lipofuscinoses 44 71
Ncl 20 58
Juvenile Neuronal Ceroid Lipofuscinosis 71
Lipofuscinosis, Ceroid, Neuronal 39
Batten Disease 20

Characteristics:

Orphanet epidemiological data:

58
neuronal ceroid lipofuscinosis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages; Age of death: any age;

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:14503
KEGG 36 H00149
MeSH 44 D009472
NCIt 50 C61257
SNOMED-CT 67 42012007
ICD10 32 E75.4
MESH via Orphanet 45 D009472
ICD10 via Orphanet 33 E75.4
UMLS via Orphanet 72 C0027877
Orphanet 58 ORPHA216
UMLS 71 C0027877 C0751383

Summaries for Neuronal Ceroid Lipofuscinosis

GARD : 20 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 ceroid lipofuscinosis, neuronal, 10 and ceroid lipofuscinosis, neuronal, 2, 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, spleen and skin, and related phenotypes are intellectual disability and eeg abnormality

NINDS : 53 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 : 36 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 : 74 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 278)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 10 34.1 TPP1 PSAP PPT1 MFSD8 KCTD7 GRN
2 ceroid lipofuscinosis, neuronal, 2 34.1 TPP1 PPT1 MFSD8 DNAJC5 CTSD CLN8
3 ceroid lipofuscinosis, neuronal, 6 34.1 TPP1 SMPD1 MFSD8 CLN8 CLN6 CLN5
4 ceroid lipofuscinosis, neuronal, 3 34.0 TPP1 SMPD1 PPT1 MFSD8 M6PR KCTD7
5 ceroid lipofuscinosis, neuronal, 1 33.9 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
6 neuronal ceroid-lipofuscinoses 33.9 TPP1 PSAP PPT2 PPT1 MFSD8 GRN
7 adult neuronal ceroid lipofuscinosis 33.9 TPP1 PSAP PPT1 GRN DNAJC5 CTSF
8 ceroid lipofuscinosis, neuronal, 7 33.9 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
9 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 33.8 TPP1 SMPD1 PPT1 DNAJC5 CTSD CLN6
10 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 33.8 PPT1 MFSD8 KCTD7 ERG28 DNAJC5 CLN8
11 ceroid lipofuscinosis, neuronal, 13 33.8 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
12 ceroid lipofuscinosis, neuronal, 9 33.7 MFSD8 KCTD7 DNAJC5 CLN8 CLN6 CLN5
13 ceroid lipofuscinosis, neuronal, 11 33.7 PPT1 MFSD8 KCTD7 GRN DNAJC5 CTSF
14 lysosomal storage disease 33.2 TPP1 SMPD1 PSAP PPT1 M6PR CTSD
15 progressive myoclonus epilepsy 3 32.9 TPP1 PPT1 MFSD8 KCTD7 CLN8 CLN6
16 progressive myoclonus epilepsy 31.7 TPP1 KCTD7 CLN6 CLN5 CLN3
17 early myoclonic encephalopathy 31.4 KCTD7 CLN8 CLN6
18 dementia 31.3 VCP MFSD8 GRN CTSD ATP13A2
19 spinocerebellar ataxia, autosomal recessive 7 31.2 TPP1 PPT1 MFSD8 KCTD7 GRN DNAJC5
20 mucopolysaccharidosis-plus syndrome 31.2 TPP1 SMPD1 PPT1 M6PR CTSD CLN6
21 tay-sachs disease 31.0 TPP1 SMPD1 PSAP M6PR CLN6 CLN3
22 aspartylglucosaminuria 31.0 PSAP M6PR CLN6 CLN5 CLN3
23 pick disease of brain 31.0 VCP SMPD1 GRN
24 mucolipidosis 31.0 SMPD1 PSAP M6PR CTSD CLN3
25 mucolipidosis ii alpha/beta 31.0 SMPD1 PSAP M6PR CTSD
26 niemann-pick disease 31.0 SMPD1 RAB7A PSAP M6PR CTSD
27 krabbe disease 30.9 SMPD1 PSAP M6PR
28 dyscalculia 30.7 VCP GRN
29 ceroid lipofuscinosis, neuronal, 5 12.1
30 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 12.1
31 ceroid lipofuscinosis, neuronal, 8 11.9
32 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 11.7
33 cln4 disease 11.6
34 kufor-rakeb syndrome 11.5
35 breast cancer 11.3
36 hepatitis d 11.0
37 cockayne syndrome 11.0
38 yemenite deaf-blind hypopigmentation syndrome 11.0
39 ataxia and polyneuropathy, adult-onset 10.9
40 dermatopathia pigmentosa reticularis 10.9
41 leukemia, acute myeloid 10.9
42 diamond-blackfan anemia 10.9
43 retinal degeneration 10.9
44 myoclonus 10.8
45 cerebral atrophy 10.8
46 encephalopathy 10.7
47 seizure disorder 10.6
48 unverricht-lundborg syndrome 10.6 PPT1 MFSD8 KCTD7 CLN6 CLN5 CLN3
49 visual epilepsy 10.6 PPT1 MFSD8 KCTD7 ERG28 DNAJC5 CLN8
50 mucopolysaccharidosis iii 10.6 TPP1 PPT1 MFSD8 M6PR DNAJC5 CLN6

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:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
3 abnormal electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0000512
4 abnormal retinal vascular morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0008046
5 mental deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0001268
6 ocular albinism 58 31 hallmark (90%) Very frequent (99-80%) HP:0001107
7 visual loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0000572
8 seizure 31 hallmark (90%) HP:0001250
9 hypotonia 31 hallmark (90%) HP:0001252
10 neurological speech impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002167
11 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
12 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
13 abnormality of movement 58 31 frequent (33%) Frequent (79-30%) HP:0100022
14 abnormality of metabolism/homeostasis 58 31 frequent (33%) Frequent (79-30%) HP:0001939
15 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
16 behavioral abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0000708
17 seizures 58 Very frequent (99-80%)
18 muscular hypotonia 58 Very frequent (99-80%)
19 visual impairment 58 Very frequent (99-80%)
20 abnormality of the eye 58 Frequent (79-30%)
21 abnormality of vision 58 Frequent (79-30%)

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.4 DNAJC5 ERG28
2 Decreased viability GR00381-A-1 9.4 KCTD7 SMPD1 VCP
3 Decreased viability GR00386-A-1 9.4 ATP13A2 CLN5 GRN M6PR
4 Decreased viability GR00402-S-2 9.4 ATP13A2 GRN VCP

MGI Mouse Phenotypes related to Neuronal Ceroid Lipofuscinosis:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.42 ATP13A2 CLN3 CLN6 CLN8 CTSD CTSF
2 hematopoietic system MP:0005397 10.27 CLN3 CLN6 CTSD GRN KCTD7 M6PR
3 cellular MP:0005384 10.26 ATP13A2 CLN3 CTSD GRN M6PR MFSD8
4 mortality/aging MP:0010768 10.24 CLN3 CLN6 CLN8 CTSD CTSF DNAJC5
5 immune system MP:0005387 10.17 CLN3 CTSD GRN KCTD7 MFSD8 PPT1
6 nervous system MP:0003631 10.16 ATP13A2 CLN3 CLN5 CLN6 CLN8 CTSD
7 liver/biliary system MP:0005370 9.95 CLN3 GRN MFSD8 PPT1 PPT2 PSAP
8 muscle MP:0005369 9.87 DNAJC5 MFSD8 PPT1 PPT2 PSAP TPP1
9 pigmentation MP:0001186 9.63 ATP13A2 CLN8 GRN MFSD8 PPT1 PPT2
10 renal/urinary system MP:0005367 9.5 CLN3 GRN M6PR MFSD8 PPT1 PPT2
11 vision/eye MP:0005391 9.4 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 24)
# 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 N-monoacetylcystine Phase 4
4 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
5
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
6
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
7
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
8
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
9
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
10
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
11
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
12 Immunosuppressive Agents Phase 2, Phase 3
13 Immunologic Factors Phase 2, Phase 3
14 Antilymphocyte Serum Phase 2, Phase 3
15 Antirheumatic Agents Phase 2, Phase 3
16 Alkylating Agents Phase 2, Phase 3
17 Methylprednisolone Acetate Phase 2, Phase 3
18
Omeprazole Approved, Investigational, Vet_approved Phase 2 73590-58-6 4594
19
Mycophenolic acid Approved Phase 2 24280-93-1 446541
20 Antibiotics, Antitubercular Phase 2
21 Antitubercular Agents Phase 2
22 Anti-Infective Agents Phase 2
23 Anti-Bacterial Agents Phase 2
24 Pharmaceutical Solutions Phase 2

Interventional clinical trials:

(show all 35)
# Name Status NCT ID Phase Drugs
1 A Combination Therapy With Cystagon and N-Acetylcysteine for INCL Patients Completed NCT00028262 Phase 4 Cystagon
2 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
3 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
4 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 Completed NCT01414985 Phase 1, Phase 2
5 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
6 A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease Completed NCT02485899 Phase 1, Phase 2
7 Phase I/IIa Gene Transfer Clinical Trial for Juvenile Neuronal Ceroid Lipofuscinosis, Delivering the CLN3 Gene by Self-Complementary AAV9 Active, not recruiting NCT03770572 Phase 1, Phase 2
8 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
9 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 Active, not recruiting NCT02678689 Phase 2
10 A Safety, Tolerability, and Efficacy Study of PLX-200 in Participants With Mild-to-Moderate Juvenile Neuronal Ceroid Lipofuscinosis (CLN3) Disease Not yet recruiting NCT04637282 Phase 2 PLX-200
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) Completed NCT01161576 Phase 1
12 Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Expressing the Human CLN2 cDNA to the Brain of Children With Late Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00151216 Phase 1
13 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
14 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
15 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
16 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
17 Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Completed NCT01035424
18 Genotype - Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00151268
19 Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities Completed NCT01966757
20 Investigations of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3) Recruiting NCT03307304
21 Clinical and Neuropsychological Investigations in Batten Disease Recruiting NCT01873924
22 A Natural History and Outcome Measure Discovery Study of Variant Late Infantile Neuronal Ceroid Lipofuscinosis Type 5 (CLN5) and Variant Late Infantile Neuronal Ceroid Lipofuscinosis Type 7 (CLN7) Recruiting NCT03822650
23 Natural History and Long Term Clinical Assessments of All Forms of Neuronal Ceroid Lipofuscinoses - Capturing Key Symptoms and Disease Progression as Part of the Independent, International NCL DEM-CHILD Patient Database Recruiting NCT04613089
24 Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency (Neuronal Ceroid Lipofuscinosis Type 2) Patients Recruiting NCT04098211
25 Cerliponase Alfa Observational Study Recruiting NCT04476862 Cerliponase Alfa
26 Long-Term Follow-Up of AT-GTX-501 scAAV9 Gene Transfer in Subjects With CLN6 Batten Disease Recruiting NCT04273243
27 Natural History Study of Batten's CLN6 Disease Recruiting NCT03285425
28 Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease Recruiting NCT03862274
29 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
30 Using Normalization Process Theory to Evaluate Providing Pediatric Palliative Care at End-of-Life as Web-Based Training Intervention for Nurses: Recruiting NCT04461561
31 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
32 A Prospective, Observational Study to Evaluate Ocular Disease Progression in Children With CLN2 Batten Disease Not yet recruiting NCT04462692
33 A Retrospective, Chart Review Study to Evaluate Ocular Disease Progression in Children With Late-infantile Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) Not yet recruiting NCT04480476
34 Natural History Study of Batten Disease Not yet recruiting NCT04644549
35 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:

40
Brain, Spleen, Skin, Retina, Bone Marrow, Eye, Bone

Publications for Neuronal Ceroid Lipofuscinosis

Articles related to Neuronal Ceroid Lipofuscinosis:

(show top 50) (show all 1938)
# Title Authors PMID Year
1
"Real world effectiveness of cerliponase alfa in classical and atypical patients. A case series". 61
33604240 2021
2
Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey. 61
33486620 2021
3
Role of Munc18-1 in the biological functions and pathogenesis of neurological disorders (Review). 61
33495808 2021
4
Managing CLN2 disease: A treatable neurodegenerative condition among other treatable early childhood epilepsies. 61
33538188 2021
5
Development of the "Hamburg Best Practice Guidelines for ICV-Enzyme Replacement therapy (ERT) in CLN2 Disease" Based on 6 Years Treatment Experience in 48 Patients. 61
33543660 2021
6
[Neuronal ceroid lipofuscinoses]. 61
33538885 2021
7
[Neuroinflammation in neuronal ceroid lipofuscinosis]. 61
33411040 2021
8
[Experimental therapeutic approaches for the treatment of retinal dystrophy in neuronal ceroid lipofuscinosis]. 61
33030566 2021
9
Defective Lysosomal Lipid Catabolism as a Common Pathogenic Mechanism for Dementia. 61
33550528 2021
10
Urine proteomics analysis of patients with neuronal ceroid lipofuscinoses. 61
33532713 2021
11
[Ophthalmological manifestations of neuronal ceroid lipofuscinoses (NCL) : NCL as diseases of brain and retina-the role of ophthalmologists]. 61
33315139 2021
12
Human INCL fibroblasts display abnormal mitochondrial and lysosomal networks and heightened susceptibility to ROS-induced cell death. 61
33561134 2021
13
Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy. 61
33242182 2021
14
Enzymatic diagnosis of neuronal lipofuscinoses in dried blood spots using substrates for concomitant tandem mass spectrometry and fluorimetry. 61
33314470 2021
15
Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort. 61
33507216 2021
16
Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis. 61
32783189 2021
17
Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 With a Recessively Inherited Macular Dystrophy. 61
33507209 2021
18
AAV9 Gene Therapy Increases Lifespan and Treats Pathological and Behavioral Abnormalities in a Mouse Model of CLN8-Batten Disease. 61
33010819 2021
19
Cerliponase alfa changes the natural history of children with neuronal ceroid lipofuscinosis type 2: The first French cohort. 61
33348105 2020
20
The improvement in diagnosis and epilepsy managing in children with progressive myoclonus epilepsy during the last decade - A tertiary center experience in cohort of 51 patients. 61
33142201 2020
21
Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world. 61
33377563 2020
22
An Ophthalmic Rating Scale to Assess Ocular Involvement in Juvenile CLN3 Disease. 61
32707205 2020
23
An altered secretome is an early marker of the pathogenesis of CLN6 Batten disease. 61
33368303 2020
24
Status dystonicus associated with CLN8 disease. 61
33358637 2020
25
Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series. 61
33356800 2020
26
MRI findings in neuronal ceroid lipofuscinosis. 61
32994845 2020
27
Autism, Epilepsy, and Neuroregression: Photosensitivity on Electroencephalography Solved the Riddle. 61
31903771 2020
28
Sex- and region-biased depletion of microglia/macrophages attenuates CLN1 disease in mice. 61
33115477 2020
29
An iPSC-Derived Neuron Model of CLN3 Disease Facilitates Small Molecule Phenotypic Screening. 61
33073192 2020
30
Current Insights in Elucidation of Possible Molecular Mechanisms of the Juvenile Form of Batten Disease. 61
33137890 2020
31
Loss of CLN3, the gene mutated in juvenile neuronal ceroid lipofuscinosis, leads to metabolic impairment and autophagy induction in retinal pigment epithelium. 61
32592935 2020
32
Imaging data on characterization of retinal autofluorescent lesions in a mouse model of juvenile neuronal ceroid lipofuscinosis (CLN3 disease). 61
32885002 2020
33
Network analysis of the progranulin-deficient mouse brain proteome reveals pathogenic mechanisms shared in human frontotemporal dementia caused by GRN mutations. 61
33028409 2020
34
Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia. 61
33134512 2020
35
Expanding the Neuroimaging Phenotype of Neuronal Ceroid Lipofuscinoses. 61
32855186 2020
36
Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses. 61
31678159 2020
37
Correction to: Molecular networking in the neuronal ceroid lipofuscinoses: insights from mammalian models and the social amoeba Dictyostelium discoideum. 61
32951590 2020
38
Pathomechanisms in the neuronal ceroid lipofuscinoses. 61
31678162 2020
39
Applying modern Omic technologies to the Neuronal Ceroid Lipofuscinoses. 61
31207290 2020
40
Cardiac pathology in neuronal ceroid lipofuscinoses (NCL): More than a mere co-morbidity. 61
31863828 2020
41
Cln1-mutations suppress Rab7-RILP interaction and impair autophagy contributing to neuropathology in a mouse model of infantile neuronal ceroid lipofuscinosis. 61
32279353 2020
42
Future perspectives: What lies ahead for Neuronal Ceroid Lipofuscinosis research? 61
31926264 2020
43
Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics. 61
32684372 2020
44
MRI in CLN2 disease patients: Subtle features that support an early diagnosis. 61
32855042 2020
45
Intravitreal enzyme replacement inhibits progression of retinal degeneration in canine CLN2 neuronal ceroid lipofuscinosis. 61
32634395 2020
46
Viral-Mediated Gene Replacement Therapy in the Developing Central Nervous System: Current Status and Future Directions. 61
32684374 2020
47
The contribution of multicellular model organisms to neuronal ceroid lipofuscinosis research. 61
31783156 2020
48
Pharmacological approaches to tackle NCLs. 61
31521819 2020
49
Overview of advances in educational and social supports for young persons with NCL disorders. 61
31152869 2020
50
Cellular models of Batten disease. 61
31655107 2020

Variations for Neuronal Ceroid Lipofuscinosis

ClinVar genetic disease variations for Neuronal Ceroid Lipofuscinosis:

6 (show top 50) (show all 1111)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CLN6 NM_017882.3(CLN6):c.393_394CT[1] (p.Ser132fs) Microsatellite Pathogenic 4082 rs774543080 15:68504103-68504104 15:68211765-68211766
2 CLN5 NM_006493.4(CLN5):c.775_776AT[1] (p.Phe260fs) Microsatellite Pathogenic 189038 rs786204644 13:77574802-77574803 13:77000667-77000668
3 TPP1 NM_000391.4(TPP1):c.617G>A (p.Arg206His) SNV Pathogenic 68748 rs121908209 11:6638276-6638276 11:6617045-6617045
4 TPP1 NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) SNV Pathogenic 2642 rs119455954 11:6637287-6637287 11:6616056-6616056
5 CLN8 NM_018941.3(CLN8):c.499G>T (p.Glu167Ter) SNV Pathogenic 205194 rs144495588 8:1719719-1719719 8:1771553-1771553
6 TPP1 NM_000391.4(TPP1):c.1266G>C (p.Gln422His) SNV Pathogenic 68738 rs121908200 11:6636673-6636673 11:6615442-6615442
7 TPP1 NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) SNV Pathogenic 189179 rs786204753 11:6636448-6636448 11:6615217-6615217
8 TPP1 NM_000391.4(TPP1):c.851G>T (p.Gly284Val) SNV Pathogenic 2647 rs119455957 11:6637927-6637927 11:6616696-6616696
9 CLN3 NM_000086.2(CLN3):c.569dup (p.Ala191fs) Duplication Pathogenic 457954 rs386833732 16:28497775-28497776 16:28486454-28486455
10 CLN3 NC_000016.10:g.(?_28486327)_(28486670_?)del Deletion Pathogenic 457935 16:28486327-28486670
11 TPP1 NM_000391.4(TPP1):c.1397T>G (p.Val466Gly) SNV Pathogenic 89086 rs398122959 11:6636430-6636430 11:6615199-6615199
12 TPP1 NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu) SNV Pathogenic 68737 rs121908199 11:6636773-6636773 11:6615542-6615542
13 TPP1 NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) SNV Pathogenic 207561 rs202189057 11:6638926-6638926 11:6617695-6617695
14 TPP1 NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) SNV Pathogenic 207586 rs750428882 11:6637606-6637606 11:6616375-6616375
15 CLN8 NC_000008.11:g.(?_1771035)_(1780587_?)del Deletion Pathogenic 457933 8:1719201-1728753 8:1771035-1780587
16 CLN3 NM_000086.2(CLN3):c.1213C>T (p.Arg405Trp) SNV Pathogenic 418137 rs139842473 16:28488941-28488941 16:28477620-28477620
17 PPT1 NM_000310.3(PPT1):c.536+1G>A SNV Pathogenic 56199 rs386833651 1:40555081-40555081 1:40089409-40089409
18 TPP1 NM_000391.4(TPP1):c.509-1G>A SNV Pathogenic 207574 rs56144125 11:6638385-6638385 11:6617154-6617154
19 PPT1 NM_000310.3(PPT1):c.628-1G>T SNV Pathogenic 56208 rs386833659 1:40544331-40544331 1:40078659-40078659
20 CLN5 NM_006493.4(CLN5):c.112_113insATCCGGGCTGG (p.Val38fs) Insertion Pathogenic 527726 rs1555273604 13:77566342-77566343 13:76992207-76992208
21 CLN5 NM_006493.4(CLN5):c.187del (p.Arg63fs) Deletion Pathogenic 527740 rs1555273881 13:77569210-77569210 13:76995075-76995075
22 CLN5 NM_006493.4(CLN5):c.956_959del (p.Lys319fs) Deletion Pathogenic 56529 rs386833967 13:77574980-77574983 13:77000845-77000848
23 DNAJC5 NM_025219.3(DNAJC5):c.343_345CTC[1] (p.Leu116del) Microsatellite Pathogenic 30893 rs587776892 20:62562224-62562226 20:63930871-63930873
24 CLN3 NC_000016.10:g.(?_28487436)_(28491779_?)del Deletion Pathogenic 527787 16:28498757-28503100 16:28487436-28491779
25 TPP1 NM_000391.4(TPP1):c.237C>G (p.Tyr79Ter) SNV Pathogenic 560628 rs1564855860 11:6639000-6639000 11:6617769-6617769
26 CLN5 NM_006493.4(CLN5):c.1026_1027AT[1] (p.Thr342_Tyr343insTer) Microsatellite Pathogenic 2564 rs386833969 13:77575053-77575054 13:77000918-77000919
27 CLN5 NM_006493.4(CLN5):c.78G>A (p.Trp26Ter) SNV Pathogenic 2565 rs104894385 13:77566311-77566311 13:76992176-76992176
28 CLN5 NM_006493.4(CLN5):c.522dup (p.Trp175fs) Duplication Pathogenic 56543 rs386833979 13:77570218-77570219 13:76996083-76996084
29 CLN3 NM_000086.2(CLN3):c.1001G>A (p.Arg334His) SNV Pathogenic 56244 rs386833695 16:28493481-28493481 16:28482160-28482160
30 TPP1 NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) SNV Pathogenic 198725 rs765380155 11:6637605-6637605 11:6616374-6616374
31 CLN5 NM_006493.4(CLN5):c.566_*1548del (p.Gly189fs) Deletion Pathogenic 577654 13:77574593-77576652 13:77000458-77002517
32 CLN6 NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) SNV Pathogenic 68094 rs154774640 15:68510922-68510922 15:68218584-68218584
33 TPP1 NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) SNV Pathogenic 207569 rs756564767 11:6638858-6638858 11:6617627-6617627
34 TPP1 NM_000391.4(TPP1):c.89+5G>C SNV Pathogenic 207599 rs746085696 11:6640422-6640422 11:6619191-6619191
35 TPP1 NM_000391.4(TPP1):c.325C>T (p.Gln109Ter) SNV Pathogenic 645209 rs1589948943 11:6638912-6638912 11:6617681-6617681
36 CLN3 NC_000016.10:g.(?_28487456)_(28595930_?)del Deletion Pathogenic 584086 16:28498777-28607251 16:28487456-28595930
37 CLN3 NC_000016.10:g.(?_28486347)_(28486650_?)del Deletion Pathogenic 584138 16:28497668-28497971 16:28486347-28486650
38 CLN6 NC_000015.10:g.(?_68229482)_(68229604_?)del Deletion Pathogenic 651807 15:68521820-68521942 15:68229482-68229604
39 CLN5 NC_000013.11:g.(?_76991932)_(77000989_?)del Deletion Pathogenic 649631 13:77566067-77575124 13:76991932-77000989
40 CLN8 NM_018941.3(CLN8):c.610C>T (p.Arg204Cys) SNV Pathogenic 2804 rs104894060 8:1728482-1728482 8:1780316-1780316
41 CLN8 NC_000008.11:g.(?_1771045)_(1780577_?)del Deletion Pathogenic 647473 8:1719211-1728743 8:1771045-1780577
42 CLN8 NM_018941.3(CLN8):c.295C>T (p.Gln99Ter) SNV Pathogenic 654163 rs750162094 8:1719515-1719515 8:1771349-1771349
43 CLN3 NM_000086.2(CLN3):c.883G>A (p.Glu295Lys) SNV Pathogenic 3556 rs121434286 16:28493821-28493821 16:28482500-28482500
44 CLN3 NM_000086.2(CLN3):c.214C>T (p.Gln72Ter) SNV Pathogenic 56258 rs386833709 16:28500619-28500619 16:28489298-28489298
45 CLN3 NC_000016.10:g.(?_28485965)_(28486930_?)del Deletion Pathogenic 657904 16:28497286-28498251 16:28485965-28486930
46 CLN5 NM_006493.4(CLN5):c.524G>A (p.Trp175Ter) SNV Pathogenic 56544 rs386833980 13:77570221-77570221 13:76996086-76996086
47 CLN3 NM_000086.2(CLN3):c.424del (p.Val142fs) Deletion Pathogenic 56269 rs386833720 16:28498813-28498813 16:28487492-28487492
48 CLN8 NM_018941.3(CLN8):c.70C>G (p.Arg24Gly) SNV Pathogenic 2802 rs104894064 8:1719290-1719290 8:1771124-1771124
49 TPP1 NM_000391.4(TPP1):c.1676_1677CT[1] (p.Leu560fs) Microsatellite Pathogenic 661918 rs759664259 11:6635790-6635791 11:6614559-6614560
50 CLN3 NM_000086.2(CLN3):c.597C>A (p.Tyr199Ter) SNV Pathogenic 3557 rs267606737 16:28497748-28497748 16:28486427-28486427

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:

36
# 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 11.47 TPP1 SMPD1 PSAP PPT2 PPT1 MFSD8
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:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.4 SMPD1 RAB7A PPT2 PPT1 MFSD8 M6PR
2 extracellular exosome GO:0070062 10.06 VCP TPP1 SMPD1 RAB7A PSAP PPT2
3 endoplasmic reticulum GO:0005783 10.05 VCP GRN ERG28 CLN8 CLN6 CLN5
4 Golgi apparatus GO:0005794 9.98 TPP1 PPT1 M6PR GRN DNAJC5 CLN5
5 intracellular membrane-bounded organelle GO:0043231 9.97 VCP PSAP PPT2 PPT1 DNAJC5 CLN6
6 endosome GO:0005768 9.88 SMPD1 RAB7A M6PR GRN CLN3 ATP13A2
7 lysosomal membrane GO:0005765 9.85 RAB7A PSAP MFSD8 M6PR GRN DNAJC5
8 membrane raft GO:0045121 9.77 TPP1 PPT1 CTSD CLN6 CLN3
9 late endosome GO:0005770 9.73 RAB7A PSAP M6PR GRN CLN3 ATP13A2
10 late endosome membrane GO:0031902 9.71 RAB7A CLN3 ATP13A2
11 transport vesicle GO:0030133 9.65 M6PR ERG28 ATP13A2
12 melanosome GO:0042470 9.63 TPP1 DNAJC5 CTSD
13 lysosomal lumen GO:0043202 9.56 TPP1 SMPD1 PSAP PPT2 PPT1 CTSF
14 lysosome GO:0005764 9.47 TPP1 SMPD1 RAB7A PSAP PPT2 PPT1

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.85 VCP RAB7A PSAP GRN DNAJC5 CTSD
2 negative regulation of neuron apoptotic process GO:0043524 9.78 PPT1 GRN DNAJC5 CLN3
3 cholesterol metabolic process GO:0008203 9.76 SMPD1 CLN8 CLN6
4 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.74 RAB7A CTSF CTSD
5 neuromuscular process controlling balance GO:0050885 9.67 TPP1 CLN8 CLN3
6 autophagosome maturation GO:0097352 9.61 VCP MFSD8 CLN3
7 protein targeting to lysosome GO:0006622 9.6 RAB7A M6PR
8 cellular protein catabolic process GO:0044257 9.59 PPT1 CLN8
9 positive regulation of exosomal secretion GO:1903543 9.58 RAB7A ATP13A2
10 associative learning GO:0008306 9.58 PPT1 CLN8 CLN3
11 fatty-acyl-CoA biosynthetic process GO:0046949 9.56 PPT2 PPT1
12 lysosomal transport GO:0007041 9.56 PSAP M6PR GRN ATP13A2
13 phagosome-lysosome fusion GO:0090385 9.55 RAB7A CLN3
14 protein catabolic process GO:0030163 9.55 TPP1 PPT1 CLN8 CLN6 CLN5
15 lysosomal protein catabolic process GO:1905146 9.54 TPP1 CLN3
16 autophagosome-lysosome fusion GO:0061909 9.52 CLN3 ATP13A2
17 positive regulation of pinocytosis GO:0048549 9.51 PPT1 CLN3
18 cellular macromolecule catabolic process GO:0044265 9.5 PPT1 CLN8 CLN6
19 regulation of lysosomal protein catabolic process GO:1905165 9.46 MFSD8 ATP13A2
20 lysosomal lumen acidification GO:0007042 9.35 PPT1 GRN CLN6 CLN5 CLN3
21 lysosome organization GO:0007040 9.23 TPP1 PPT1 MFSD8 GRN CLN8 CLN6

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

# Name GO ID Score Top Affiliating Genes
1 palmitoyl-(protein) hydrolase activity GO:0008474 9.37 PPT2 PPT1
2 thiolester hydrolase activity GO:0016790 9.32 PPT2 PPT1
3 retromer complex binding GO:1905394 9.26 RAB7A M6PR
4 palmitoyl hydrolase activity GO:0098599 9.16 PPT2 PPT1
5 lysophosphatidic acid binding GO:0035727 9.13 TPP1 PPT1 CLN6
6 sulfatide binding GO:0120146 8.92 TPP1 PPT1 CLN6 CLN3

Sources for Neuronal Ceroid Lipofuscinosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....