NCL
MCID: NRN021
MIFTS: 63

Neuronal Ceroid Lipofuscinosis (NCL)

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

Aliases & Classifications for Neuronal Ceroid Lipofuscinosis

MalaCards integrated aliases for Neuronal Ceroid Lipofuscinosis:

Name: Neuronal Ceroid Lipofuscinosis 12 74 52 53 58 36 29 6 15 32
Hereditary Ceroid Lipofuscinosis 12 74
Neuronal Ceroid-Lipofuscinoses 43 71
Ncl 52 58
Juvenile Neuronal Ceroid Lipofuscinosis 71
Lipofuscinosis, Ceroid, Neuronal 39
Batten Disease 52

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 43 D009472
NCIt 49 C61257
SNOMED-CT 67 42012007
ICD10 32 E75.4
MESH via Orphanet 44 D009472
ICD10 via Orphanet 33 E75.4
UMLS via Orphanet 72 C0027877
Orphanet 58 ORPHA216
UMLS 71 C0027877 C0751383

Summaries for Neuronal Ceroid Lipofuscinosis

NIH Rare Diseases : 52 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 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 : 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 251)
# Related Disease Score Top Affiliating Genes
1 adult neuronal ceroid lipofuscinosis 35.9 TPP1 PSAP PPT1 DNAJC5 CLN6
2 ceroid lipofuscinosis, neuronal, 3 35.6 TPP1 PPT1 MFSD8 M6PR KCTD7 DNAJC5
3 ceroid lipofuscinosis, neuronal, 2 35.6 TPP1 PPT1 DNAJC5 CTSD CLN8 CLN6
4 ceroid lipofuscinosis, neuronal, 10 35.6 TPP1 PSAP PPT1 MFSD8 KCTD7 GRN
5 ceroid lipofuscinosis, neuronal, 1 35.6 TPP1 PPT2 PPT1 MFSD8 KCTD7 DNAJC5
6 ceroid lipofuscinosis, neuronal, 6 35.6 MFSD8 CLN6 CLN5
7 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 35.4 TPP1 PPT1 DNAJC5 CTSD CLN6 CLN3
8 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 35.4 PPT1 MFSD8 KCTD7 ERG28 DNAJC5 CLN8
9 ceroid lipofuscinosis, neuronal, 7 35.4 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
10 ceroid lipofuscinosis, neuronal, 13 35.3 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
11 ceroid lipofuscinosis, neuronal, 11 35.1 MFSD8 KCTD7 GRN DNAJC5 CTSF CLN8
12 ceroid lipofuscinosis, neuronal, 9 35.1 TPP1 MFSD8 KCTD7 DNAJC5 CLN9 CLN8
13 neuronal ceroid-lipofuscinoses 35.1 PPT1 CLN8 CLN6 CLN5 CLN3
14 lysosomal storage disease 34.1 TPP1 PSAP PPT1 M6PR CTSD CLN8
15 ceroid storage disease 33.2 TPP1 PPT1 DNAJC5 CLN8 CLN6 CLN5
16 cerebral atrophy 32.3 CLN6 CLN3
17 visual epilepsy 32.1 TPP1 PPT1 MFSD8 KCTD7 ERG28 DNAJC5
18 progressive myoclonus epilepsy 32.1 TPP1 KCTD7 CLN6 CLN5 CLN3
19 spinocerebellar ataxia, autosomal recessive 7 31.7 TPP1 MFSD8 KCTD7 CTSF CLN8 CLN6
20 gm1 gangliosidosis 31.6 PSAP CLN6 CLN3
21 tay-sachs disease 31.5 PSAP M6PR CLN6
22 dementia 31.3 VCP GRN CTSD CLN5 ATP13A2
23 aspartylglucosaminuria 31.3 PSAP M6PR CLN3
24 mucolipidosis 31.2 PSAP M6PR CTSD
25 mucolipidosis ii alpha/beta 31.0 PSAP M6PR
26 dyscalculia 30.9 VCP GRN
27 ceroid lipofuscinosis, neuronal, 5 12.9
28 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 12.9
29 ceroid lipofuscinosis, neuronal, 8 12.7
30 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 12.4
31 kufor-rakeb syndrome 12.3
32 cln4 disease 12.1
33 progressive myoclonus epilepsy 3 11.6
34 cervical cancer 11.5
35 leukemia, acute myeloid 11.2
36 alzheimer disease 6 11.2
37 noonan syndrome 6 11.2
38 yemenite deaf-blind hypopigmentation syndrome 11.1
39 ataxia and polyneuropathy, adult-onset 11.0
40 retinal degeneration 10.9
41 myoclonus 10.9
42 encephalopathy 10.8
43 mucopolysaccharidosis iii 10.8 TPP1 PPT1 M6PR KCTD7 DNAJC5 CLN8
44 lipid storage disease 10.8 TPP1 PSAP PPT1 CTSD CLN8 CLN6
45 visual cortex disease 10.8 MFSD8 CLN8 CLN6 CLN5
46 visual pathway disease 10.8 MFSD8 CLN8 CLN6 CLN5
47 sphingolipidosis 10.7 PSAP M6PR CTSD ATP13A2
48 inclusion-cell disease 10.7 PSAP M6PR CTSD
49 gaucher's disease 10.7 PSAP GRN CTSD CLN8
50 unverricht-lundborg syndrome 10.7 CLN6 CLN5 CLN3

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 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0001250
3 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
4 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
5 abnormal electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0000512
6 visual loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0000572
7 mental deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0001268
8 ocular albinism 58 31 hallmark (90%) Very frequent (99-80%) HP:0001107
9 abnormal retinal vascular morphology 31 hallmark (90%) HP:0008046
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 metabolism/homeostasis 58 31 frequent (33%) Frequent (79-30%) HP:0001939
14 abnormality of movement 58 31 frequent (33%) Frequent (79-30%) HP:0100022
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 visual impairment 58 Very frequent (99-80%)
18 abnormality of the eye 58 Frequent (79-30%)
19 abnormality of vision 58 Frequent (79-30%)
20 abnormality of the retinal vasculature 58 Very frequent (99-80%)

UMLS symptoms related to Neuronal Ceroid Lipofuscinosis:


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

MGI Mouse Phenotypes related to Neuronal Ceroid Lipofuscinosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.33 ATP13A2 CLN3 CLN6 CLN8 CTSD CTSF
2 mortality/aging MP:0010768 10.21 CLN3 CLN6 CLN8 CTSD CTSF DNAJC5
3 cellular MP:0005384 10.17 ATP13A2 CLN3 CTSD GRN M6PR MFSD8
4 nervous system MP:0003631 10.13 ATP13A2 CLN3 CLN5 CLN6 CLN8 CTSD
5 hematopoietic system MP:0005397 10.1 CLN3 CLN6 CTSD GRN MFSD8 PPT1
6 muscle MP:0005369 9.87 DNAJC5 MFSD8 PPT1 PPT2 PSAP TPP1
7 pigmentation MP:0001186 9.63 ATP13A2 CLN8 GRN MFSD8 PPT1 PPT2
8 renal/urinary system MP:0005367 9.5 CLN3 GRN M6PR MFSD8 PPT1 PPT2
9 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 29)
# 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 Anti-Infective Agents Phase 4
4 N-monoacetylcystine Phase 4
5 Respiratory System Agents Phase 4
6 Free Radical Scavengers Phase 4
7 Antiviral Agents Phase 4
8 Antioxidants Phase 4
9 Protective Agents Phase 4
10 Expectorants Phase 4
11
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
12
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
13
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
14
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
15
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
16 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
17
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
18
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
19 Alkylating Agents Phase 2, Phase 3
20 Methylprednisolone Acetate Phase 2, Phase 3
21 Antilymphocyte Serum Phase 2, Phase 3
22 Immunosuppressive Agents Phase 2, Phase 3
23 Antirheumatic Agents Phase 2, Phase 3
24 Immunologic Factors Phase 2, Phase 3
25
Omeprazole Approved, Investigational, Vet_approved Phase 2 73590-58-6 4594
26
Mycophenolic acid Approved Phase 2 24280-93-1 446541
27 Antitubercular Agents Phase 2
28 Antibiotics, Antitubercular Phase 2
29 Anti-Bacterial Agents Phase 2

Interventional clinical trials:

(show all 30)
# 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 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
5 Phase I/IIa Gene Transfer Clinical Trial for Juvenile Neuronal Ceroid Lipofuscinosis, Delivering the CLN3 Gene by Self-Complementary AAV9 Recruiting NCT03770572 Phase 1, Phase 2
6 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
7 Direct CNS Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human CLN2 cDNA to Children With LINCL With Uncommon Genotypes and/or Moderate to Severe Impairment Active, not recruiting NCT01414985 Phase 1, Phase 2
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 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 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 Unknown status NCT01586455 Phase 1 Human Placental Derived Stem Cell
11 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
12 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
13 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 Active, not recruiting NCT00151216 Phase 1
14 Direct CNS Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human CLN2 cDNA to Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) Active, not recruiting NCT01161576 Phase 1
15 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
16 Genotype - Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00151268
17 Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities Completed NCT01966757
18 Unrelated Donor Bone Marrow Transplantation for Definitive Treatment of Patients With Phosphoglycerate Kinase (PGK) Deficiency Completed NCT00592540
19 Investigations of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3) Recruiting NCT03307304
20 Clinical and Neuropsychological Investigations in Batten Disease Recruiting NCT01873924
21 Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency (Neuronal Ceroid Lipofuscinosis Type 2) Patients Recruiting NCT04098211
22 Natural History Study of Batten's CLN6 Disease Recruiting NCT03285425
23 Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease Recruiting NCT03862274
24 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
25 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
26 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
27 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
28 Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT01035424
29 A Natural History Study of Late Infantile Variant CLN7 And CLN5 Disease Suspended NCT03822650
30 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, Testes, Kidney, Liver, Spleen, Skin, Retina

Publications for Neuronal Ceroid Lipofuscinosis

Articles related to Neuronal Ceroid Lipofuscinosis:

(show top 50) (show all 1867)
# Title Authors PMID Year
1
CLN3 regulates endosomal function by modulating Rab7A effector interactions. 61
32034082 2020
2
Anaesthesia and orphan disease: A 2-year-old with neuronal ceroid lipofuscinosis. 61
31913935 2020
3
Autism, Epilepsy, and Neuroregression: Photosensitivity on Electroencephalography Solved the Riddle. 61
31903771 2020
4
Neuronal ceroid lipofuscinoses type 8: Expanding genotype/phenotype diversity-first report from Saudi Arabia. 61
31982899 2020
5
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies. 61
31829048 2020
6
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing. 61
31919451 2020
7
Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel. 61
31493945 2020
8
Lysosomal protein thermal stability does not correlate with cellular half-life: Global observations and a case study of tripeptidyl-peptidase 1. 61
31957806 2020
9
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms. 61
31855245 2020
10
A major facilitator superfamily domain 8 frameshift variant in a cat with suspected neuronal ceroid lipofuscinosis. 61
31860737 2020
11
Future perspectives: What lies ahead for Neuronal Ceroid Lipofuscinosis research? 61
31926264 2020
12
Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease. 61
31807779 2019
13
Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis. 61
31467849 2019
14
Topological Alterations of the Structural Brain Connectivity Network in Children with Juvenile Neuronal Ceroid Lipofuscinosis. 61
31727742 2019
15
Cardiac pathology in neuronal ceroid lipofuscinoses (NCL): More than a mere co-morbidity. 61
31863828 2019
16
Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis. 61
31888773 2019
17
Multimodal retinal imaging in MFSD8-neuronal ceroid lipofuscinosis. 61
31909682 2019
18
Neuronal ceroid lipofuscinosis in a German Shorthaired Pointer associated with a previously reported CLN8 nonsense variant. 61
31687336 2019
19
Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders. 61
30500434 2019
20
Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations. 61
31870439 2019
21
Review of Cerliponase Alfa: Recombinant Human Enzyme Replacement Therapy for Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2. 61
31884868 2019
22
Neurofilament light is a treatment-responsive biomarker in CLN2 disease. 61
31814335 2019
23
High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses. 61
31741823 2019
24
Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy. 61
31926949 2019
25
Positron Emission Tomography in Pediatric Neurodegenerative Disorders. 61
31416725 2019
26
Analysis of Brain and Cerebrospinal Fluid from Mouse Models of the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Changes in the Lysosomal Proteome. 61
31501224 2019
27
Rett and Rett-like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene. 61
31512412 2019
28
Exogenous Galactosylceramide as Potential Treatment for CLN3 Disease. 61
31393621 2019
29
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy. 61
31721179 2019
30
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease. 61
31283065 2019
31
Red flags for neuronal ceroid lipofuscinosis type 2 disease. 61
31674009 2019
32
The contribution of multicellular model organisms to neuronal ceroid lipofuscinosis research. 61
31783156 2019
33
Large animal models contribute to the development of therapies for central and peripheral nervous system dysfunction in patients with lysosomal storage diseases. 61
31384936 2019
34
The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy. 61
31476531 2019
35
The neuronal ceroid lipofuscinosis protein Cln7 functions in the postsynaptic cell to regulate synapse development. 61
31666534 2019
36
Cellular models of Batten disease. 61
31655107 2019
37
A Drosophila model of neuronal ceroid lipofuscinosis CLN4 reveals a hypermorphic gain of function mechanism. 61
31663851 2019
38
The Parkinson-associated human P5B-ATPase ATP13A2 modifies lipid homeostasis. 61
31132336 2019
39
Gene-Based Approaches to Inherited Neurometabolic Diseases. 61
31397176 2019
40
Perampanel attenuates myoclonus in a patient with neuronal ceroid lipofuscinoses type 2 disease. 61
31122803 2019
41
A novel, hybrid, single- and multi-site clinical trial design for CLN3 disease, an ultra-rare lysosomal storage disorder. 61
31184505 2019
42
Pathomechanisms in the neuronal ceroid lipofuscinoses. 61
31678162 2019
43
Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses. 61
31678159 2019
44
Mice deficient in the lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1) display a complex retinal phenotype. 61
31578378 2019
45
Gene Therapy Corrects Brain and Behavioral Pathologies in CLN6-Batten Disease. 61
31331814 2019
46
Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy. 61
31487502 2019
47
Loss of Cln5 leads to altered Gad1 expression and deficits in interneuron development in mice. 61
31294445 2019
48
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family. 61
30892110 2019
49
Cln3-mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl-protein thioesterases-1 (Ppt1)-protein and Ppt1-enzyme activity in the lysosome. 61
31025705 2019
50
Paediatric-onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis. 61
31489614 2019

Variations for Neuronal Ceroid Lipofuscinosis

ClinVar genetic disease variations for Neuronal Ceroid Lipofuscinosis:

6 (show top 50) (show all 457) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CLN8 NM_018941.3(CLN8):c.499G>T (p.Glu167Ter)SNV Pathogenic 205194 rs144495588 8:1719719-1719719 8:1771553-1771553
2 TPP1 NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)SNV Pathogenic 2643 rs119455955 11:6638271-6638271 11:6617040-6617040
3 TPP1 NM_000391.4(TPP1):c.509-1G>CSNV Pathogenic 2644 rs56144125 11:6638385-6638385 11:6617154-6617154
4 TPP1 NM_000391.4(TPP1):c.851G>T (p.Gly284Val)SNV Pathogenic 2647 rs119455957 11:6637927-6637927 11:6616696-6616696
5 CLN3 NM_000086.2(CLN3):c.883G>A (p.Glu295Lys)SNV Pathogenic 3556 rs121434286 16:28493821-28493821 16:28482500-28482500
6 PPT1 NM_000310.3(PPT1):c.364A>T (p.Arg122Trp)SNV Pathogenic 8899 rs137852695 1:40557070-40557070 1:40091398-40091398
7 DNAJC5 NM_025219.3(DNAJC5):c.343_345CTC[1] (p.Leu116del)short repeat Pathogenic 30893 rs587776892 20:62562224-62562226 20:63930871-63930873
8 TPP1 NM_000391.4(TPP1):c.1397T>G (p.Val466Gly)SNV Pathogenic 89086 rs398122959 11:6636430-6636430 11:6615199-6615199
9 CLN3 NC_000016.9:g.(?_28497648)_(28497991_?)deldeletion Pathogenic 457935 16:28486327-28486670
10 CLN3 NM_000086.2(CLN3):c.569dup (p.Ala191fs)duplication Pathogenic 457954 rs386833732 16:28497775-28497776 16:28486454-28486455
11 CLN3 NC_000016.9:g.(?_28498757)_(28503100_?)deldeletion Pathogenic 527787 16:28498757-28503100 16:28487436-28491779
12 CLN5 NM_006493.4(CLN5):c.112_113insATCCGGGCTGG (p.Val38fs)insertion Pathogenic 527726 rs1555273604 13:77566342-77566343 13:76992207-76992208
13 CLN3 NC_000016.9:g.(?_28497668)_(28497971_?)deldeletion Pathogenic 584138 16:28497668-28497971 16:28486347-28486650
14 TPP1 NM_000391.4(TPP1):c.237C>G (p.Tyr79Ter)SNV Pathogenic 560628 rs1564855860 11:6639000-6639000 11:6617769-6617769
15 CLN3 NC_000016.9:g.(?_28498777)_(28607251_?)deldeletion Pathogenic 584086 16:28498777-28607251 16:28487456-28595930
16 CLN8 NC_000008.10:g.(?_1719211)_(1728743_?)deldeletion Pathogenic 647473 8:1719211-1728743 8:1771045-1780577
17 CLN5 NC_000013.10:g.(?_77566067)_(77575124_?)deldeletion Pathogenic 649631 13:77566067-77575124 13:76991932-77000989
18 CLN6 NC_000015.9:g.(?_68521820)_(68521942_?)deldeletion Pathogenic 651807 15:68521820-68521942 15:68229482-68229604
19 CLN6 NC_000015.9:g.(?_68521830)_(68521932_?)deldeletion Pathogenic 665626 15:68521830-68521932 15:68229492-68229594
20 TPP1 NM_000391.4(TPP1):c.687+1G>CSNV Pathogenic 802655 11:6638205-6638205 11:6616974-6616974
21 CLN6 NM_017882.3(CLN6):c.837del (p.Trp279fs)deletion Pathogenic 803104 15:68500577-68500577 15:68208239-68208239
22 TPP1 NM_000391.4(TPP1):c.325C>T (p.Gln109Ter)SNV Pathogenic 645209 11:6638912-6638912 11:6617681-6617681
23 TPP1 NM_000391.4(TPP1):c.1676_1677CT[1] (p.Leu560fs)short repeat Pathogenic 661918 11:6635790-6635791 11:6614559-6614560
24 CLN8 NM_018941.3(CLN8):c.295C>T (p.Gln99Ter)SNV Pathogenic 654163 8:1719515-1719515 8:1771349-1771349
25 CLN3 NC_000016.9:g.(?_28497286)_(28498251_?)deldeletion Pathogenic 657904 16:28497286-28498251 16:28485965-28486930
26 CLN5 NM_006493.4(CLN5):c.566_*1548del (p.Gly189fs)deletion Pathogenic 577654 13:77574593-77576652 13:77000458-77002517
27 CLN5 NM_006493.4(CLN5):c.187del (p.Arg63fs)deletion Pathogenic 527740 rs1555273881 13:77569210-77569210 13:76995075-76995075
28 CLN8 NC_000008.10:g.(?_1719201)_(1728753_?)deldeletion Pathogenic 457933 8:1719201-1728753 8:1771035-1780587
29 TPP1 NM_000391.4(TPP1):c.1266G>C (p.Gln422His)SNV Pathogenic 68738 rs121908200 11:6636673-6636673 11:6615442-6615442
30 TPP1 NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu)SNV Pathogenic 68737 rs121908199 11:6636773-6636773 11:6615542-6615542
31 CLN5 NM_006493.4(CLN5):c.188G>C (p.Arg63Pro)SNV Pathogenic 56533 rs104894386 13:77569212-77569212 13:76995077-76995077
32 CLN5 NM_006493.4(CLN5):c.956_959del (p.Lys319fs)deletion Pathogenic 56529 rs386833967 13:77574980-77574983 13:77000845-77000848
33 CLN5 NM_006493.4(CLN5):c.936del (p.Phe312fs)deletion Pathogenic 56528 rs386833966 13:77574959-77574959 13:77000824-77000824
34 CLN3 NM_000086.2(CLN3):c.944dup (p.His315fs)duplication Pathogenic 56292 rs386833740 16:28493665-28493666 16:28482344-28482345
35 CLN3 NM_000086.2(CLN3):c.622dup (p.Ser208fs)duplication Pathogenic 56287 rs386833736 16:28497722-28497723 16:28486401-28486402
36 CLN3 NM_000086.2(CLN3):c.424del (p.Val142fs)deletion Pathogenic 56269 rs386833720 16:28498813-28498813 16:28487492-28487492
37 CLN3 NM_000086.2(CLN3):c.214C>T (p.Gln72Ter)SNV Pathogenic 56258 rs386833709 16:28500619-28500619 16:28489298-28489298
38 CLN5 NM_006493.4(CLN5):c.688G>A (p.Asp230Asn)SNV Pathogenic 2566 rs28940280 13:77574715-77574715 13:77000580-77000580
39 CLN5 NM_006493.4(CLN5):c.78G>A (p.Trp26Ter)SNV Pathogenic 2565 rs104894385 13:77566311-77566311 13:76992176-76992176
40 CLN5 NM_006493.4(CLN5):c.1026_1027AT[1] (p.Thr342_Tyr343insTer)short repeat Pathogenic 2564 rs386833969 13:77575053-77575054 13:77000918-77000919
41 CLN6 NM_017882.3(CLN6):c.393_394CT[1] (p.Ser132fs)short repeat Pathogenic 4082 rs774543080 15:68504103-68504104 15:68211765-68211766
42 CLN5 NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)SNV Pathogenic 205144 rs546989392 13:77570145-77570145 13:76996010-76996010
43 CLN8 NM_018941.3(CLN8):c.70C>G (p.Arg24Gly)SNV Pathogenic 2802 rs104894064 8:1719290-1719290 8:1771124-1771124
44 TPP1 NM_000391.4(TPP1):c.196C>T (p.Gln66Ter)SNV Pathogenic 207564 rs759080581 11:6640040-6640040 11:6618809-6618809
45 TPP1 NM_000391.4(TPP1):c.311T>A (p.Leu104Ter)SNV Pathogenic 207561 rs202189057 11:6638926-6638926 11:6617695-6617695
46 TPP1 NM_000391.4(TPP1):c.379C>T (p.Arg127Ter)SNV Pathogenic 207569 rs756564767 11:6638858-6638858 11:6617627-6617627
47 TPP1 NM_000391.4(TPP1):c.509-1G>ASNV Pathogenic 207574 rs56144125 11:6638385-6638385 11:6617154-6617154
48 TPP1 NM_000391.4(TPP1):c.827A>T (p.Asp276Val)SNV Pathogenic 207581 rs763162812 11:6637951-6637951 11:6616720-6616720
49 TPP1 NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter)SNV Pathogenic/Likely pathogenic 189179 rs786204753 11:6636448-6636448 11:6615217-6615217
50 TPP1 NM_000391.4(TPP1):c.89+5G>CSNV Pathogenic/Likely pathogenic 207599 rs746085696 11:6640422-6640422 11:6619191-6619191

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 11.41 TPP1 PSAP PPT2 PPT1 MFSD8 M6PR
2 11.14 RAB7A CTSF CTSD

GO Terms for Neuronal Ceroid Lipofuscinosis

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.02 VCP TPP1 RAB7A PSAP PPT2 PPT1
2 endoplasmic reticulum GO:0005783 10 VCP GRN ERG28 CLN8 CLN6 CLN5
3 cell GO:0005623 9.97 RAB7A PPT1 KCTD7 GRN CLN6 CLN5
4 late endosome GO:0005770 9.73 RAB7A PSAP M6PR GRN CLN3 ATP13A2
5 lysosomal lumen GO:0043202 9.7 TPP1 PSAP PPT2 PPT1 CTSF CTSD
6 synaptic vesicle GO:0008021 9.65 PPT1 DNAJC5 CLN3
7 lysosomal membrane GO:0005765 9.65 RAB7A PSAP MFSD8 M6PR GRN DNAJC5
8 transport vesicle GO:0030133 9.61 M6PR ERG28 ATP13A2
9 melanosome GO:0042470 9.58 TPP1 DNAJC5 CTSD
10 lysosome GO:0005764 9.44 TPP1 RAB7A PSAP PPT2 PPT1 MFSD8

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 9.88 VCP RAB7A PSAP GRN DNAJC5 CTSD
2 negative regulation of neuron apoptotic process GO:0043524 9.76 PPT1 GRN DNAJC5 CLN3
3 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.67 RAB7A CTSF CTSD
4 protein catabolic process GO:0030163 9.63 TPP1 PPT1 CTSD CLN8 CLN6 CLN5
5 neuromuscular process controlling balance GO:0050885 9.62 TPP1 PSAP CLN8 CLN3
6 associative learning GO:0008306 9.61 PPT1 CLN8 CLN3
7 negative regulation of proteolysis GO:0045861 9.55 CLN8 CLN3
8 cellular protein catabolic process GO:0044257 9.54 PPT1 CLN8
9 lysosomal transport GO:0007041 9.54 PSAP M6PR GRN
10 protein targeting to lysosome GO:0006622 9.52 RAB7A M6PR
11 positive regulation of exosomal secretion GO:1903543 9.51 RAB7A ATP13A2
12 fatty-acyl-CoA biosynthetic process GO:0046949 9.48 PPT2 PPT1
13 cellular macromolecule catabolic process GO:0044265 9.43 PPT1 CLN8 CLN6
14 lysosomal lumen acidification GO:0007042 9.35 PPT1 GRN CLN6 CLN5 CLN3
15 lysosome organization GO:0007040 9.17 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 hydrolase activity GO:0016787 9.8 VCP TPP1 PPT2 PPT1 CTSF CTSD
2 palmitoyl-(protein) hydrolase activity GO:0008474 9.16 PPT2 PPT1
3 retromer complex binding GO:1905394 8.96 RAB7A M6PR
4 palmitoyl hydrolase activity GO:0098599 8.62 PPT2 PPT1

Sources for Neuronal Ceroid Lipofuscinosis

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