MCID: NRN021
MIFTS: 62

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 72 49 50 36 28 14
Hereditary Ceroid Lipofuscinosis 12 72
Neuronal Ceroid-Lipofuscinoses 41 69
Juvenile Neuronal Ceroid Lipofuscinosis 69
Batten Disease 49
Ncl 49

Classifications:



Summaries for Neuronal Ceroid Lipofuscinosis

NIH Rare Diseases : 49 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. Last updated: 9/7/2015

MalaCards based summary : Neuronal Ceroid Lipofuscinosis, also known as hereditary ceroid lipofuscinosis, is related to adult neuronal ceroid lipofuscinosis and ceroid lipofuscinosis, neuronal, 10, and has symptoms including visual impairment, abnormal electroretinogram and visual loss. An important gene associated with Neuronal Ceroid Lipofuscinosis is CLN3 (CLN3, 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, eye and testes, and related phenotypes are behavior/neurological and mortality/aging

NINDS : 50 Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Symptoms of Batten disease are linked to a buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. Because vision loss is often an early sign, Batten disease may be first suspected during an eye exam. Often, an eye specialist or other physician may refer the child to a neurologist. Diagnostic tests for Batten disease include blood or urine tests, skin or tissue sampling, an electroencephalogram (EEG), electrical studies of the eyes, and brain scans.

Wikipedia : 72 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 70)
# Related Disease Score Top Affiliating Genes
1 adult neuronal ceroid lipofuscinosis 34.8 CLN6 DNAJC5 PPT1 PSAP TPP1
2 ceroid lipofuscinosis, neuronal, 10 34.5 CLN3 CLN5 CLN6 CLN8 CTSD KCTD7
3 ceroid lipofuscinosis, neuronal, 3 34.4 CLN3 CLN5 CLN6 CTSD PPT1 TPP1
4 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 34.3 CLN5 CLN6 CLN8 MFSD8
5 ceroid lipofuscinosis, neuronal, 7 34.2 CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1
6 ceroid lipofuscinosis, neuronal, 1 34.1 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
7 ceroid lipofuscinosis, neuronal, 2 34.0 CLN3 CLN5 CLN6 CLN8 CTSD CTSF
8 ceroid lipofuscinosis, neuronal, 13 33.9 CLN5 CLN8 CTSF DNAJC5 KCTD7
9 ceroid lipofuscinosis, neuronal, 9 33.2 CLN5 CLN6 CLN8 CLN9 MFSD8
10 ceroid lipofuscinosis, neuronal, 11 33.1 ATP13A2 CLN3 CLN5 CLN6 CLN8 CTSD
11 neuronal ceroid-lipofuscinoses 32.1 CLN3 CLN5 CLN6 CLN8 CTSD CTSF
12 lysosomal storage disease 30.9 CLN3 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 retinitis 10.6
22 ceroid storage disease 10.5 CLN3 CLN5 CLN6 CLN8 TPP1
23 inclusion-cell disease 10.4 CTSD PSAP
24 retinal degeneration 10.4
25 visual pathway disease 10.4 CLN8 MFSD8
26 aging 10.3
27 epilepsy 10.3
28 lipid storage disease 10.3 CLN3 CLN5 CLN6 CLN8 PPT1 PSAP
29 visual epilepsy 10.3 CLN5 CLN6 CLN8 DNAJC5 KCTD7 MFSD8
30 visual cortex disease 10.2 CLN8 MFSD8
31 retinitis pigmentosa 10.2
32 rett syndrome 10.2
33 ataxia and polyneuropathy, adult-onset 10.2
34 leber congenital amaurosis 4 10.2
35 episodic pain syndrome, familial, 1 10.2
36 left ventricular noncompaction 10.2
37 hypertrophic cardiomyopathy 10.2
38 dementia 10.2
39 neuroaxonal dystrophy 10.2
40 cerebritis 10.2
41 myopathy 10.2
42 spinocerebellar ataxia 7 10.0
43 aspartylglucosaminuria 10.0
44 krabbe disease 10.0
45 mucolipidosis ii alpha/beta 10.0
46 neurodegeneration with brain iron accumulation 2a 10.0
47 choroideremia 10.0
48 retinitis pigmentosa-deafness syndrome 10.0
49 frontotemporal dementia 10.0
50 46,xy gonadal dysgenesis, partial, with minifascicular neuropathy 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:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 hallmark (90%) HP:0000505
2 abnormal electroretinogram 31 hallmark (90%) HP:0000512
3 visual loss 31 hallmark (90%) HP:0000572
4 optic atrophy 31 frequent (33%) HP:0000648
5 behavioral abnormality 31 occasional (7.5%) HP:0000708
6 ocular albinism 31 hallmark (90%) HP:0001107
7 intellectual disability 31 hallmark (90%) HP:0001249
8 seizures 31 hallmark (90%) HP:0001250
9 ataxia 31 occasional (7.5%) HP:0001251
10 muscular hypotonia 31 hallmark (90%) HP:0001252
11 mental deterioration 31 hallmark (90%) HP:0001268
12 abnormality of metabolism/homeostasis 31 frequent (33%) HP:0001939
13 neurological speech impairment 31 frequent (33%) HP:0002167
14 eeg abnormality 31 hallmark (90%) HP:0002353
15 developmental regression 31 frequent (33%) HP:0002376
16 abnormality of the retinal vasculature 31 hallmark (90%) HP:0008046
17 abnormality of movement 31 frequent (33%) HP:0100022

UMLS symptoms related to Neuronal Ceroid Lipofuscinosis:


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

MGI Mouse Phenotypes related to Neuronal Ceroid Lipofuscinosis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.35 PPT2 M6PR PSAP MFSD8 PPT1 TPP1
2 mortality/aging MP:0010768 10.21 PPT1 TPP1 PPT2 M6PR PSAP RAB7A
3 cellular MP:0005384 10.16 TPP1 GRN PPT2 M6PR PSAP MFSD8
4 hematopoietic system MP:0005397 10.13 PPT1 PPT2 PSAP MFSD8 RAB7A CLN6
5 nervous system MP:0003631 10.13 TPP1 PPT2 PSAP MFSD8 PPT1 CLN6
6 immune system MP:0005387 10.1 PPT1 PPT2 PSAP MFSD8 RAB7A GAD2
7 muscle MP:0005369 9.87 TPP1 PPT1 PPT2 PSAP MFSD8 GAD2
8 pigmentation MP:0001186 9.63 PPT2 MFSD8 PPT1 GRN CLN8 ATP13A2
9 reproductive system MP:0005389 9.56 GRN PPT2 M6PR PSAP GAD2 CLN8
10 vision/eye MP:0005391 9.36 PPT2 PSAP MFSD8 PPT1 CLN6 GRN

Drugs & Therapeutics for Neuronal Ceroid Lipofuscinosis

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

(show all 30)
# 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 Antirheumatic Agents Phase 2, Phase 3
18 Immunosuppressive Agents Phase 2, Phase 3
19 Methylprednisolone acetate Phase 2, Phase 3
20 Methylprednisolone Hemisuccinate Phase 2, Phase 3
21 Prednisolone acetate Phase 2, Phase 3
22 Prednisolone hemisuccinate Phase 2, Phase 3
23 Prednisolone phosphate Phase 2, Phase 3
24
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
25
Mycophenolic acid Approved Phase 2 24280-93-1 446541
26
Omeprazole Approved, Investigational, Vet_approved Phase 2 73590-58-6 4594
27 Anti-Bacterial Agents Phase 2
28 Antibiotics, Antitubercular Phase 2
29 Antitubercular Agents Phase 2
30
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 28

Anatomical Context for Neuronal Ceroid Lipofuscinosis

MalaCards organs/tissues related to Neuronal Ceroid Lipofuscinosis:

38
Brain, Eye, Testes, Skin, Liver, Spleen, Kidney

Publications for Neuronal Ceroid Lipofuscinosis

Articles related to Neuronal Ceroid Lipofuscinosis:

(show top 50) (show all 627)
# Title Authors Year
1
Progranulin Gene Therapy Improves Lysosomal Dysfunction and Microglial Pathology Associated with Frontotemporal Dementia and Neuronal Ceroid Lipofuscinosis. ( 29378861 )
2018
2
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
3
Neuronal ceroid lipofuscinosis with severe biventricular impairment: a rare genetic disorder with associated myopathy? ( 29182766 )
2018
4
Neuronal ceroid lipofuscinosis in Salukis is caused by a single base pair insertion in CLN8. ( 29446145 )
2018
5
Inducible transgenic expression of tripeptidyl peptidase 1 in a mouse model of late-infantile neuronal ceroid lipofuscinosis. ( 29408933 )
2018
6
Long-term follow-up of two siblings with adult-onset neuronal ceroid lipofuscinosis, Kufs type A. ( 28587997 )
2017
7
Chronic Enzyme Replacement to the Brain of a Late Infantile Neuronal Ceroid Lipofuscinosis Mouse Has Differential Effects on Phenotypes of Disease. ( 28345005 )
2017
8
Fingolimod and Teriflunomide Attenuate Neurodegeneration in Mouse Models of Neuronal Ceroid Lipofuscinosis. ( 28506594 )
2017
9
A cluster of palmitoylated cysteines are essential for aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis. ( 28127059 )
2017
10
Retinal function in patients with the neuronal ceroid lipofuscinosis phenotype. ( 28954019 )
2017
11
in vivo localization of the neuronal ceroid lipofuscinosis proteins, CLN3 and CLN7, at endogenous expression levels. ( 28365214 )
2017
12
Primary fibroblasts from CSPI+ mutation carriers recapitulate hallmarks of the adult onset neuronal ceroid lipofuscinosis. ( 28740222 )
2017
13
Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease. ( 28632327 )
2017
14
Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder. ( 29284168 )
2017
15
Extra-neuronal pathology in a canine model of CLN2 neuronal ceroid lipofuscinosis after intracerebroventricular gene therapy that delays neurological disease progression. ( 28079862 )
2017
16
Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons. ( 29041969 )
2017
17
Conditional loss of progranulin in neurons is not sufficient to cause neuronal ceroid lipofuscinosis-like neuropathology in mice. ( 28647554 )
2017
18
Defective synaptic transmission causes disease signs in a mouse model of juvenile neuronal ceroid lipofuscinosis. ( 29135436 )
2017
19
Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis. ( 28404863 )
2017
20
Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis. ( 28428354 )
2017
21
Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers. ( 28792770 )
2017
22
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
23
Mouse models of kufor-rakeb disease link Parkinson's disease closer to neuronal ceroid lipofuscinosis, suggesting lysosomal dysfunction as shared mechanism. ( 28071821 )
2017
24
Gemfibrozil, food and drug administration-approved lipid-lowering drug, increases longevity in mouse model of late infantile neuronal ceroid lipofuscinosis. ( 28199020 )
2017
25
Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease. ( 28334871 )
2017
26
Homozygous PPT1 Splice Donor Mutation in a Cane Corso Dog With Neuronal Ceroid Lipofuscinosis. ( 28008682 )
2017
27
Selective depletion of microglial progranulin in mice is not sufficient to cause neuronal ceroid lipofuscinosis or neuroinflammation. ( 29149899 )
2017
28
Volumetric Description of Brain Atrophy in Neuronal Ceroid Lipofuscinosis 2: Supratentorial Gray Matter Shows Uniform Disease Progression. ( 27231226 )
2016
29
Chorea in Late-Infantile Neuronal Ceroid Lipofuscinosis: AnA Atypical Presentation. ( 27343025 )
2016
30
Self-Complementary AAV9 Gene Delivery Partially Corrects Pathology Associated with Juvenile Neuronal Ceroid Lipofuscinosis (CLN3). ( 27629717 )
2016
31
The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease? ( 26762174 )
2016
32
Neuronal ceroid lipofuscinosis with DNAJC5/CSPI+ mutation has PPT1 pathology and exhibit aberrant protein palmitoylation. ( 26659577 )
2016
33
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease). ( 27412140 )
2016
34
Neuronal ceroid lipofuscinosis in an adult American Staffordshire Terrier. ( 27778018 )
2016
35
Age-dependent alterations in neuronal activity in the hippocampus and visual cortex in a mouse model of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3). ( 28042098 )
2016
36
Manifestation of neuronal ceroid lipofuscinosis in Australian Merino sheep: observations on altered behaviour and growth. ( 26949278 )
2016
37
Antigen presenting cell abnormalities in the Cln3(-/-) mouse model of juvenile neuronal ceroid lipofuscinosis. ( 27101989 )
2016
38
Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities. ( 27105763 )
2016
39
Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1. ( 27639779 )
2016
40
Ocular morphology and function in juvenile neuronal ceroid lipofuscinosis (CLN3) in the first decade of life. ( 27486012 )
2016
41
Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD. ( 27668283 )
2016
42
First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations. ( 27165443 )
2016
43
GPi deep brain stimulation for palliation of hemidystonia and hemibody jerking in a patient with suspected adult onset neuronal ceroid lipofuscinosis. ( 26944153 )
2016
44
Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies. ( 27203721 )
2016
45
Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis. ( 27553520 )
2016
46
A girl with infantile neuronal ceroid lipofuscinosis caused by novel PPT1 mutation and paternal uniparental isodisomy of chromosome 1. ( 26846731 )
2016
47
CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis). ( 27491216 )
2016
48
Next-Generation Sequencing in the Diagnosis of Juvenile Neuronal Ceroid Lipofuscinosis. ( 27215405 )
2016
49
Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis. ( 27083890 )
2016
50
Unique Characteristics of the Photoparoxysmal Response in Patients With Neuronal Ceroid Lipofuscinosis Type 2: Can EEG Be a Biomarker? ( 27445018 )
2016

Variations for Neuronal Ceroid Lipofuscinosis

ClinVar genetic disease variations for Neuronal Ceroid Lipofuscinosis:

6 (show all 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLN3 NM_001042432.1(CLN3): c.622dupT (p.Ser208Phefs) duplication Pathogenic/Likely pathogenic rs386833736 GRCh37 Chromosome 16, 28497723: 28497723
2 CLN3 NM_001042432.1(CLN3): c.944dupA (p.His315Glnfs) duplication Pathogenic/Likely pathogenic rs386833740 GRCh37 Chromosome 16, 28493666: 28493666
3 TPP1 NM_000391.3(TPP1): c.1166G> A (p.Gly389Glu) single nucleotide variant Pathogenic rs121908199 GRCh37 Chromosome 11, 6636773: 6636773
4 TPP1 NM_000391.3(TPP1): c.1266G> C (p.Gln422His) single nucleotide variant Pathogenic rs121908200 GRCh37 Chromosome 11, 6636673: 6636673
5 TPP1 NM_000391.3(TPP1): c.1397T> G (p.Val466Gly) single nucleotide variant Pathogenic rs398122959 GRCh37 Chromosome 11, 6636430: 6636430
6 TPP1 NM_000391.3(TPP1): c.1379G> A (p.Trp460Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204753 GRCh38 Chromosome 11, 6615217: 6615217
7 CLN5 NM_006493.2(CLN5): c.924_925delAT (p.Phe309Serfs) deletion Pathogenic/Likely pathogenic rs786204644 GRCh37 Chromosome 13, 77574804: 77574805
8 TPP1 NM_000391.3(TPP1): c.1094G> A (p.Cys365Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs119455954 GRCh37 Chromosome 11, 6637287: 6637287
9 TPP1 NM_000391.3(TPP1): c.622C> T (p.Arg208Ter) single nucleotide variant Pathogenic rs119455955 GRCh37 Chromosome 11, 6638271: 6638271
10 TPP1 NM_000391.3(TPP1): c.509-1G> C single nucleotide variant Pathogenic rs56144125 GRCh37 Chromosome 11, 6638385: 6638385
11 TPP1 NM_000391.3(TPP1): c.851G> T (p.Gly284Val) single nucleotide variant Pathogenic rs119455957 GRCh37 Chromosome 11, 6637927: 6637927
12 CLN6 NM_017882.2(CLN6): c.395_396delCT (p.Ser132Cysfs) deletion Pathogenic rs774543080 GRCh38 Chromosome 15, 68211765: 68211766
13 CLN8 NM_018941.3(CLN8): c.499G> T (p.Glu167Ter) single nucleotide variant Pathogenic rs144495588 GRCh37 Chromosome 8, 1719719: 1719719
14 TPP1 NM_000391.3(TPP1): c.1015C> T (p.Arg339Trp) single nucleotide variant Pathogenic/Likely pathogenic rs750428882 GRCh37 Chromosome 11, 6637606: 6637606
15 TPP1 NM_000391.3(TPP1): c.311T> A (p.Leu104Ter) single nucleotide variant Pathogenic rs202189057 GRCh38 Chromosome 11, 6617695: 6617695
16 CLN5 NM_006493.2(CLN5): c.595C> T (p.Arg199Ter) single nucleotide variant Pathogenic rs546989392 GRCh38 Chromosome 13, 76996010: 76996010
17 CLN8 NC_000008.11: g.(?_1771035)_(1780587_?)del deletion Pathogenic GRCh38 Chromosome 8, 1771035: 1780587
18 CLN3 NC_000016.10: g.(?_28486327)_(28486670_?)del deletion Pathogenic GRCh38 Chromosome 16, 28486327: 28486670
19 CLN3 NM_001042432.1(CLN3): c.569dup (p.Ala191Serfs) duplication Pathogenic GRCh37 Chromosome 16, 28497776: 28497776

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 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 14)
# 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 9.63 CTSD CTSF RAB7A
4 lysosome organization GO:0007040 9.55 CLN3 CLN6 MFSD8 PPT1 TPP1
5 associative learning GO:0008306 9.54 CLN3 PPT1
6 negative regulation of proteolysis GO:0045861 9.52 CLN3 CLN8
7 neurotransmitter secretion GO:0007269 9.5 DNAJC5 GAD2 PPT1
8 bone resorption GO:0045453 9.49 RAB7A TPP1
9 ceramide metabolic process GO:0006672 9.48 CLN3 CLN8
10 positive regulation of exosomal secretion GO:1903543 9.43 ATP13A2 RAB7A
11 fatty-acyl-CoA biosynthetic process GO:0046949 9.4 PPT1 PPT2
12 cellular macromolecule catabolic process GO:0044265 9.26 CLN6 PPT1
13 lysosomal lumen acidification GO:0007042 9.26 CLN3 CLN5 CLN6 PPT1
14 protein catabolic process GO:0030163 9.17 CLN3 CLN5 CLN6 CLN8 CTSD PPT1

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

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

Sources for Neuronal Ceroid Lipofuscinosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
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50 NINDS
51 Novoseek
53 OMIM
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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