MCID: CRD186
MIFTS: 57

Ceroid Lipofuscinosis, Neuronal, 3

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

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 3

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 3:

Name: Ceroid Lipofuscinosis, Neuronal, 3 53 71 13
Batten Disease 53 12 72 50 55 71 51 14
Juvenile Neuronal Ceroid Lipofuscinosis 12 49 24 55 71 28 69
Cln3 53 12 71
Jncl 53 55 71
Neuronal Ceroid Lipofuscinosis 3 12 49
Spielmeyer-Sjogren Disease 53 71
Vogt-Spielmeyer Disease 53 71
Spielmeyer-Vogt Disease 24 55
Cln3 Disease 24 55
Neuronal Ceroid Lipofuscinosis, Juvenile; Jncl 53
Cln3-Related Neuronal Ceroid-Lipofuscinosis 24
Neuronal Ceroid Lipofuscinosis, Juvenile 53
Juvenile Cerebroretinal Degeneration 24
Batten-Spielmeyer-Vogt Disease 24
Spielmeyer Sjogren Disease 49
Vogt Spielmeyer Disease 49
Juvenile Batten Disease 24
Cln3 Disease, Juvenile 49
Batten-Mayou Disease 24
Juvenile Ncl 55

Characteristics:

Orphanet epidemiological data:

55
cln3 disease
Inheritance: Autosomal recessive; Age of onset: Childhood;
juvenile neuronal ceroid lipofuscinosis
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Sweden),1-9/100000 (Sweden),1-9/100000 (Finland),1-9/1000000 (Norway),1-9/100000 (Norway),1-9/100000 (Iceland),1-9/1000000 (Denmark),1-9/100000 (Denmark); Age of onset: Childhood; Age of death: young Adult;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset at 4 to 10 years
death at 20 to 40 years
variable severity, some patients have a protracted course with little neurologic involvement
1.02 kb genomic deletion in 85% of batten disease alleles worldwide


HPO:

31
ceroid lipofuscinosis, neuronal, 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ceroid Lipofuscinosis, Neuronal, 3

OMIM : 53 The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a 'fingerprint' profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with CLN3 (Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730). (204200)

MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 3, also known as batten disease, is related to lysosomal storage disease and ceroid lipofuscinosis, neuronal, 10, and has symptoms including ataxia, abnormality of extrapyramidal motor function and abnormal pyramidal signs. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 3 is CLN3 (CLN3, Battenin), and among its related pathways/superpathways is Lysosome. The drugs Acetylcysteine and Cysteamine have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and brain.

UniProtKB/Swiss-Prot : 71 Ceroid lipofuscinosis, neuronal, 3: A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a fingerprint profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane- bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with neuronal ceroid lipofuscinosis type 3.

NIH Rare Diseases : 49 Neuronal ceroid lipofuscinosis 3 (CLN3-NCL) is a rare condition that affects the nervous system. Signs and symptoms generally develop between age 4 and 8 years, although later onset cases have been reported. Affected people may experience rapidly progressive vision loss, developmental regression (loss of acquired milestones), cognitive decline, heart problems, seizures, speech disturbances, behavioral problems (including aggression), and movement abnormalities. Life expectancy generally ranges from the late teens to the 30's. CLN3-NCL is caused by changes (mutations) in the CLN3 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. Last updated: 9/1/2015

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.

Genetics Home Reference : 24 CLN3 disease is an inherited disorder that primarily affects the nervous system. After 4 to 6 years of normal development, children with this condition develop vision impairment, intellectual disability, movement problems, speech difficulties, and seizures, which worsen over time.

Disease Ontology : 12 A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has material basis in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11.

Wikipedia : 72 Batten disease is a fatal disease of the nervous system that typically begins in childhood. Onset of... more...

Related Diseases for Ceroid Lipofuscinosis, Neuronal, 3

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 Ceroid Lipofuscinosis, Neuronal, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 lysosomal storage disease 31.6 CLN3 PPT1 TPP1
2 ceroid lipofuscinosis, neuronal, 10 31.6 CLN3 CLN5 CLN6 CTSD
3 neuronal ceroid lipofuscinosis 31.5 CLN3 CLN5 CLN6 CTSD PPT1 TPP1
4 inherited metabolic disorder 31.3 CLN3 PPT1
5 ceroid lipofuscinosis, neuronal, 1 31.3 CLN3 CLN5 CLN6 CTSD PPT1 TPP1
6 ceroid lipofuscinosis, neuronal, 2 31.0 CLN3 CLN5 CLN6 CTSD PPT1 TPP1
7 ceroid storage disease 30.6 CLN3 CLN5 CLN6 TPP1
8 lipid storage disease 30.4 CLN3 CLN5 CLN6 PPT1 TPP1
9 ceroid lipofuscinosis, neuronal, 11 30.4 CLN3 CLN5 CLN6 CTSD PPT1
10 neuronal ceroid-lipofuscinoses 30.0 BAMBI CLN3 CLN5 CLN6 CTSD PPT1
11 myoclonic epilepsy of lafora 11.0
12 retinitis pigmentosa 10.9
13 phelan-mcdermid syndrome 10.9
14 epileptic encephalopathy, childhood-onset 10.9
15 secondary corneal edema 10.9
16 bladder neck obstruction 10.9
17 unverricht-lundborg syndrome 10.9
18 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 10.9
19 neuronitis 10.1
20 ceroid lipofuscinosis, neuronal, 9 10.0 CLN5 CLN6
21 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 9.9 CLN5 CLN6
22 visual epilepsy 9.8 CLN5 CLN6
23 adult neuronal ceroid lipofuscinosis 9.8 CLN6 PPT1 TPP1
24 ceroid lipofuscinosis, neuronal, 7 9.8 CLN5 CLN6 PPT1

Graphical network of the top 20 diseases related to Ceroid Lipofuscinosis, Neuronal, 3:



Diseases related to Ceroid Lipofuscinosis, Neuronal, 3

Symptoms & Phenotypes for Ceroid Lipofuscinosis, Neuronal, 3

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
myoclonus
dysarthria
dementia
cerebral atrophy
more
Neurologic Behavioral Psychiatric Manifestations:
anxiety
psychosis
behavioral changes
difficulty in school
mood disturbances

Cardiovascular Heart:
concentric hypertrophic cardiomyopathy, severe (later onset in protracted cases)

Laboratory Abnormalities:
lipopigment in extraneuronal cells
'fingerprint profiles' ultrastructurally in cells
'curvilinear profiles' ultrastructurally in cells

Head And Neck Eyes:
optic atrophy
macular degeneration
retinitis pigmentosa
vision loss, progressive (4 to 10 years)
blindness (6 to 14 years)
more
Hematology:
vacuolated lymphocytes

Muscle Soft Tissue:
autophagic vacuoles seen on biopsy (in some patients)
intermyofibrillar and subsarcolemmal accumulation of electron-dense material (in some patients)


Clinical features from OMIM:

204200

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 3:

55 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001251
2 abnormality of extrapyramidal motor function 55 31 hallmark (90%) Very frequent (99-80%) HP:0002071
3 abnormal pyramidal signs 55 31 hallmark (90%) Very frequent (99-80%) HP:0007256
4 neurological speech impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0002167
5 eeg abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0002353
6 behavioral abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0000708
7 blindness 55 31 hallmark (90%) Very frequent (99-80%) HP:0000618
8 abnormality of visual evoked potentials 55 31 hallmark (90%) Very frequent (99-80%) HP:0000649
9 retinopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0000488
10 abnormal electroretinogram 55 31 hallmark (90%) Very frequent (99-80%) HP:0000512
11 motor deterioration 55 31 hallmark (90%) Very frequent (99-80%) HP:0002333
12 generalized tonic-clonic seizures 55 31 hallmark (90%) Very frequent (99-80%) HP:0002069
13 dementia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000726
14 focal seizures 55 31 hallmark (90%) Very frequent (99-80%) HP:0007359
15 iris hypopigmentation 55 31 hallmark (90%) Very frequent (99-80%) HP:0007730
16 seizures 31 HP:0001250
17 myoclonus 31 HP:0001336
18 intellectual disability 31 HP:0001249
19 dysarthria 31 HP:0001260
20 visual impairment 55 Very frequent (99-80%)
21 optic atrophy 31 HP:0000648
22 progressive visual loss 31 HP:0000529
23 anxiety 31 HP:0000739
24 psychosis 31 HP:0000709
25 macular degeneration 31 HP:0000608
26 mental deterioration 55 Very frequent (99-80%)
27 abnormality of the cerebellum 31 HP:0001317
28 rod-cone dystrophy 31 HP:0000510
29 cerebral atrophy 31 HP:0002059
30 parkinsonism 31 HP:0001300
31 psychomotor deterioration 31 HP:0002361
32 vacuolated lymphocytes 31 HP:0001922
33 progressive inability to walk 31 HP:0002505
34 increased neuronal autofluorescent lipopigment 31 HP:0002074
35 curvilinear intracellular accumulation of autofluorescent lipopigment storage material 31 HP:0003205
36 fingerprint intracellular accumulation of autofluorescent lipopigment storage material 31 HP:0003208
37 undetectable electroretinogram 31 HP:0000550
38 increased extraneuronal autofluorescent lipopigment 31 HP:0003463
39 concentric hypertrophic cardiomyopathy 31 HP:0005157

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 3:


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

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 3

Drugs for Ceroid Lipofuscinosis, Neuronal, 3 (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 Investigations of Juvenile Neuronal Ceroid Lipofuscinosis Recruiting NCT03307304
18 Clinical and Neuropsychological Investigations in Batten Disease Recruiting NCT01873924
19 Natural History of Neuronal Ceroid Lipofuscinosis, Batten's CLN6 Diseae Recruiting NCT03285425
20 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
21 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
22 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
23 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
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 Ceroid Lipofuscinosis, Neuronal, 3

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 3

Genetic tests related to Ceroid Lipofuscinosis, Neuronal, 3:

# Genetic test Affiliating Genes
1 Juvenile Neuronal Ceroid Lipofuscinosis 28 CLN3

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 3

MalaCards organs/tissues related to Ceroid Lipofuscinosis, Neuronal, 3:

38
Eye, Skin, Brain, Heart, Testes, Cerebellum

Publications for Ceroid Lipofuscinosis, Neuronal, 3

Articles related to Ceroid Lipofuscinosis, Neuronal, 3:

(show top 50) (show all 271)
# Title Authors Year
1
Neurodegeneration and Epilepsy in a Zebrafish Model of CLN3 Disease (Batten Disease). ( 27327661 )
2016
2
An EEG Investigation of Sleep Homeostasis in Healthy and CLN5 Batten Disease Affected Sheep. ( 27488642 )
2016
3
Efficacy of phosphodiesterase-4 inhibitors in juvenile Batten disease (CLN3). ( 27804148 )
2016
4
Remote Assessment of Cognitive Function in Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease): A Pilot Study of Feasibility and Reliability. ( 26336202 )
2015
5
Photoreceptor phagosome processing defects and disturbed autophagy in retinal pigment epithelium of Cln3I9ex1-6 mice modelling juvenile neuronal ceroid lipofuscinosis (Batten disease). ( 26450516 )
2015
6
Unbiased Cell-Based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction Between Ca2+ Homeostasis, Autophagy, and CLN3 Function. ( 25878248 )
2015
7
Translational neurophysiology in sheep: measuring sleep and neurological dysfunction in CLN5 Batten disease affected sheep. ( 25724202 )
2015
8
Juvenile neuronal ceroid lipofuscinoses (CLN3 Batten disease): what kind of epilepsy? ( 25523638 )
2015
9
Genetics of the neuronal ceroid lipofuscinoses (Batten disease). ( 26026925 )
2015
10
Clinical aspects of neuroregression: our experience on batten disease. ( 24940373 )
2014
11
Cataract and Glaucoma Development in Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease). ( 25365415 )
2014
12
Altered levels of I+-synuclein and sphingolipids in Batten disease lymphoblast cells. ( 24534465 )
2014
13
The Batten disease gene CLN3 confers resistance to endoplasmic reticulum stress induced by tunicamycin. ( 24699413 )
2014
14
Development of new treatments for Batten disease. ( 24997881 )
2014
15
Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease). ( 24547931 )
2014
16
14th International Conference on Neuronal Ceroid Lipofuscinoses (Batten Disease) & 2nd International Patients Organization Meeting Sheraton Hotel - CA^rdoba, Argentina October 22-26, 2014. ( 25350955 )
2014
17
Valproate-induced hyperammonemia in juvenile ceroid lipofuscinosis (Batten disease). ( 24647346 )
2014
18
Amlodipine prevents apoptotic cell death by correction of elevated intracellular calcium in a primary neuronal model of Batten disease (CLN3 disease). ( 23769828 )
2013
19
Experience, knowledge, and opinions about childhood genetic testing in batten disease. ( 24246680 )
2013
20
Large animal models for Batten disease: a review. ( 24014507 )
2013
21
Osmotic stress changes the expression and subcellular localization of the Batten disease protein CLN3. ( 23840424 )
2013
22
Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate. ( 23588842 )
2013
23
Do females with juvenile ceroid lipofuscinosis (Batten disease) have a more severe disease course? The Danish experience. ( 23177590 )
2013
24
Considerations for the treatment of infantile neuronal ceroid lipofuscinosis (infantile Batten disease). ( 24014510 )
2013
25
Batten disease: current understanding and future directions. ( 23838028 )
2013
26
Batten disease: clinical aspects, molecular mechanisms, translational science, and future directions. ( 23838031 )
2013
27
Batten disease is linked to altered expression of mitochondria-related metabolic molecules. ( 23524239 )
2013
28
Cell cycle arrest in Batten disease lymphoblast cells. ( 23458879 )
2013
29
Neurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (Batten disease). ( 24014508 )
2013
30
In a model of Batten disease, palmitoyl protein thioesterase-1 deficiency is associated with brown adipose tissue and thermoregulation abnormalities. ( 23139814 )
2012
31
N-acetylcysteine normalizes the urea cycle and DNA repair in cells from patients with Batten disease. ( 22692827 )
2012
32
Gemfibrozil and fenofibrate, Food and Drug Administration-approved lipid-lowering drugs, up-regulate tripeptidyl-peptidase 1 in brain cells via peroxisome proliferator-activated receptor I+: implications for late infantile Batten disease therapy. ( 22989886 )
2012
33
BTN1, the Saccharomyces cerevisiae homolog to the human Batten disease gene, is involved in phospholipid distribution. ( 22107873 )
2012
34
The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking. ( 22545070 )
2012
35
Females experience a more severe disease course in Batten disease. ( 22167274 )
2012
36
Age-dependent therapeutic effect of memantine in a mouse model of juvenile Batten disease. ( 22683643 )
2012
37
Evaluation of neurodegeneration in a mouse model of infantile batten disease by magnetic resonance imaging and magnetic resonance spectroscopy. ( 22327870 )
2012
38
Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease). ( 22013180 )
2011
39
pH-dependent localization of Btn1p in the yeast model for Batten disease. ( 20959629 )
2011
40
Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease). ( 21464428 )
2011
41
Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data. ( 21556831 )
2011
42
The Batten disease gene CLN3 is required for the response to oxidative stress. ( 21372148 )
2011
43
Temporary inhibition of AMPA receptors induces a prolonged improvement of motor performance in a mouse model of juvenile Batten disease. ( 20971125 )
2011
44
Immunosuppression alters disease severity in juvenile Batten disease mice. ( 20937531 )
2011
45
Protective potential of resveratrol against oxidative stress and apoptosis in Batten disease lymphoblast cells. ( 21945436 )
2011
46
Lentiviral-mediated gene transfer to the sheep brain: implications for gene therapy in Batten disease. ( 21595499 )
2011
47
Measuring to improve: a new rating scale for Batten disease. ( 22013177 )
2011
48
Quantitative telemedicine ratings in Batten disease: implications for rare disease research. ( 22013181 )
2011
49
The yeast Batten disease orthologue Btn1 controls endosome-Golgi retrograde transport via SNARE assembly. ( 21987636 )
2011
50
A knock-in reporter mouse model for Batten disease reveals predominant expression of Cln3 in visual, limbic and subcortical motor structures. ( 20875858 )
2011

Variations for Ceroid Lipofuscinosis, Neuronal, 3

UniProtKB/Swiss-Prot genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 3:

71
# Symbol AA change Variation ID SNP ID
1 CLN3 p.Leu101Pro VAR_005131 rs386833714
2 CLN3 p.Leu170Pro VAR_005132 rs386833727
3 CLN3 p.Glu295Lys VAR_005133 rs121434286
4 CLN3 p.Val330Phe VAR_005134 rs386833744
5 CLN3 p.Arg334Cys VAR_005135 rs386833694
6 CLN3 p.Arg334His VAR_005136 rs386833695
7 CLN3 p.Cys134Arg VAR_066892 rs386833719
8 CLN3 p.Gly187Ala VAR_066893 rs386833730
9 CLN3 p.Gly189Arg VAR_066894 rs386833731

ClinVar genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 3:

6 (show top 50) (show all 71)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLN3 NM_001042432.1(CLN3): c.1000C> T (p.Arg334Cys) single nucleotide variant Likely pathogenic rs386833694 GRCh37 Chromosome 16, 28493482: 28493482
2 CLN3 NM_001042432.1(CLN3): c.1001G> A (p.Arg334His) single nucleotide variant Likely pathogenic rs386833695 GRCh37 Chromosome 16, 28493481: 28493481
3 CLN3 NM_001042432.1(CLN3): c.1048delC (p.Leu350Cysfs) deletion Likely pathogenic rs386833696 GRCh37 Chromosome 16, 28493434: 28493434
4 CLN3 NM_001042432.1(CLN3): c.1054C> T (p.Gln352Ter) single nucleotide variant Likely pathogenic rs386833697 GRCh37 Chromosome 16, 28493428: 28493428
5 CLN3 NM_001042432.1(CLN3): c.1056+3A> C single nucleotide variant Likely pathogenic rs386833698 GRCh37 Chromosome 16, 28493423: 28493423
6 CLN3 NM_001042432.1(CLN3): c.1056G> C (p.Gln352His) single nucleotide variant Likely pathogenic rs386833699 GRCh37 Chromosome 16, 28493426: 28493426
7 CLN3 NM_001042432.1(CLN3): c.105G> A (p.Trp35Ter) single nucleotide variant Likely pathogenic rs386833700 GRCh37 Chromosome 16, 28502823: 28502823
8 CLN3 NM_001042432.1(CLN3): c.1195G> T (p.Glu399Ter) single nucleotide variant Likely pathogenic rs386833701 GRCh37 Chromosome 16, 28489060: 28489060
9 CLN3 NM_001042432.1(CLN3): c.1198-1G> T single nucleotide variant Likely pathogenic rs386833702 GRCh37 Chromosome 16, 28488957: 28488957
10 CLN3 NM_001042432.1(CLN3): c.1247A> G (p.Asp416Gly) single nucleotide variant Likely pathogenic rs386833703 GRCh37 Chromosome 16, 28488907: 28488907
11 CLN3 NM_001042432.1(CLN3): c.125+5G> A single nucleotide variant Likely pathogenic rs386833704 GRCh37 Chromosome 16, 28502798: 28502798
12 CLN3 NM_001042432.1(CLN3): c.126-1G> A single nucleotide variant Likely pathogenic rs386833705 GRCh37 Chromosome 16, 28500708: 28500708
13 CLN3 NM_001042432.1(CLN3): c.1268C> A (p.Ser423Ter) single nucleotide variant Likely pathogenic rs386833706 GRCh37 Chromosome 16, 28488886: 28488886
14 CLN3 NM_001042432.1(CLN3): c.1272delG (p.Leu425Serfs) deletion Likely pathogenic rs386833707 GRCh37 Chromosome 16, 28488882: 28488882
15 CLN3 NM_001042432.1(CLN3): c.1A> C (p.Met1Leu) single nucleotide variant Likely pathogenic rs386833708 GRCh37 Chromosome 16, 28503080: 28503080
16 CLN3 NM_001042432.1(CLN3): c.214C> T (p.Gln72Ter) single nucleotide variant Likely pathogenic rs386833709 GRCh37 Chromosome 16, 28500619: 28500619
17 CLN3 NM_001042432.1(CLN3): c.222+2T> G single nucleotide variant Likely pathogenic rs386833710 GRCh37 Chromosome 16, 28500609: 28500609
18 CLN3 NM_001042432.1(CLN3): c.222+5G> C single nucleotide variant Likely pathogenic rs386833711 GRCh37 Chromosome 16, 28500606: 28500606
19 CLN3 NM_001042432.1(CLN3): c.233dupG (p.Thr80Asnfs) duplication Likely pathogenic rs386833712 GRCh37 Chromosome 16, 28499973: 28499973
20 CLN3 NM_001042432.1(CLN3): c.265C> T (p.Arg89Ter) single nucleotide variant Likely pathogenic rs386833713 GRCh37 Chromosome 16, 28499941: 28499941
21 CLN3 NM_001042432.1(CLN3): c.302T> C (p.Leu101Pro) single nucleotide variant Likely pathogenic rs386833714 GRCh37 Chromosome 16, 28499055: 28499055
22 CLN3 NM_001042432.1(CLN3): c.370dupT (p.Tyr124Leufs) duplication Likely pathogenic rs386833715 GRCh37 Chromosome 16, 28498987: 28498987
23 CLN3 NM_001042432.1(CLN3): c.374G> A (p.Ser125Asn) single nucleotide variant Likely pathogenic rs386833716 GRCh37 Chromosome 16, 28498983: 28498983
24 CLN3 NM_001042432.1(CLN3): c.378_379dupCC (p.Arg127Profs) duplication Likely pathogenic rs386833717 GRCh37 Chromosome 16, 28498858: 28498859
25 CLN3 NM_001042432.1(CLN3): c.379delC (p.Arg127Glyfs) deletion Likely pathogenic rs386833718 GRCh37 Chromosome 16, 28498858: 28498858
26 CLN3 NM_001042432.1(CLN3): c.400T> C (p.Cys134Arg) single nucleotide variant Likely pathogenic rs386833719 GRCh37 Chromosome 16, 28498837: 28498837
27 CLN3 NM_001042432.1(CLN3): c.424delG (p.Val142Leufs) deletion Pathogenic/Likely pathogenic rs386833720 GRCh37 Chromosome 16, 28498813: 28498813
28 CLN3 NM_001042432.1(CLN3): c.461-13G> C single nucleotide variant Likely pathogenic rs386833721 GRCh37 Chromosome 16, 28497984: 28497984
29 CLN3 NM_001042432.1(CLN3): c.461-1G> A single nucleotide variant Likely pathogenic rs386833722 GRCh37 Chromosome 16, 28497972: 28497972
30 CLN3 NM_001042432.1(CLN3): c.461-1G> C single nucleotide variant Likely pathogenic rs386833722 GRCh37 Chromosome 16, 28497972: 28497972
31 CLN3 NM_001042432.1(CLN3): c.472G> C (p.Ala158Pro) single nucleotide variant Likely pathogenic rs386833723 GRCh37 Chromosome 16, 28497960: 28497960
32 CLN3 NM_001042432.1(CLN3): c.482C> G (p.Ser161Ter) single nucleotide variant Likely pathogenic rs386833724 GRCh37 Chromosome 16, 28497950: 28497950
33 CLN3 NM_001042432.1(CLN3): c.485C> G (p.Ser162Ter) single nucleotide variant Likely pathogenic rs386833725 GRCh37 Chromosome 16, 28497947: 28497947
34 CLN3 NM_001042432.1(CLN3): c.49G> T (p.Glu17Ter) single nucleotide variant Likely pathogenic rs386833726 GRCh37 Chromosome 16, 28502879: 28502879
35 CLN3 NM_001042432.1(CLN3): c.509T> C (p.Leu170Pro) single nucleotide variant Likely pathogenic rs386833727 GRCh37 Chromosome 16, 28497923: 28497923
36 CLN3 NM_001042432.1(CLN3): c.533+1G> A single nucleotide variant Likely pathogenic rs386833728 GRCh37 Chromosome 16, 28497898: 28497898
37 CLN3 NM_001042432.1(CLN3): c.533+1G> C single nucleotide variant Likely pathogenic rs386833728 GRCh37 Chromosome 16, 28497898: 28497898
38 CLN3 NM_001042432.1(CLN3): c.558_559delAG (p.Gly187Aspfs) deletion Likely pathogenic rs386833729 GRCh37 Chromosome 16, 28497786: 28497787
39 CLN3 NM_001042432.1(CLN3): c.560G> C (p.Gly187Ala) single nucleotide variant Likely pathogenic rs386833730 GRCh37 Chromosome 16, 28497785: 28497785
40 CLN3 NM_001042432.1(CLN3): c.565G> C (p.Gly189Arg) single nucleotide variant Likely pathogenic rs386833731 GRCh37 Chromosome 16, 28497780: 28497780
41 CLN3 NM_001042432.1(CLN3): c.569delG (p.Gly190Glufs) deletion Likely pathogenic rs386833732 GRCh37 Chromosome 16, 28497776: 28497776
42 CLN3 NM_001042432.1(CLN3): c.575G> A (p.Gly192Glu) single nucleotide variant Likely pathogenic rs386833733 GRCh37 Chromosome 16, 28497770: 28497770
43 CLN3 NM_001042432.1(CLN3): c.586dupG (p.Ala196Glyfs) duplication Likely pathogenic rs386833735 GRCh37 Chromosome 16, 28497759: 28497759
44 CLN3 NM_001042432.1(CLN3): c.622dupT (p.Ser208Phefs) duplication Pathogenic/Likely pathogenic rs386833736 GRCh37 Chromosome 16, 28497723: 28497723
45 CLN3 NM_001042432.1(CLN3): c.631C> T (p.Gln211Ter) single nucleotide variant Likely pathogenic rs386833737 GRCh37 Chromosome 16, 28497714: 28497714
46 CLN3 NM_001042432.1(CLN3): c.883G> T (p.Glu295Ter) single nucleotide variant Likely pathogenic rs121434286 GRCh37 Chromosome 16, 28493821: 28493821
47 CLN3 NM_001042432.1(CLN3): c.906+5G> A single nucleotide variant Likely pathogenic rs386833739 GRCh37 Chromosome 16, 28493793: 28493793
48 CLN3 NM_001042432.1(CLN3): c.944dupA (p.His315Glnfs) duplication Pathogenic/Likely pathogenic rs386833740 GRCh37 Chromosome 16, 28493666: 28493666
49 CLN3 NM_001042432.1(CLN3): c.954_962+18del27 deletion Likely pathogenic rs386833741 GRCh37 Chromosome 16, 28493630: 28493656
50 CLN3 NM_001042432.1(CLN3): c.963-1G> T single nucleotide variant Likely pathogenic rs386833742 GRCh37 Chromosome 16, 28493520: 28493520

Expression for Ceroid Lipofuscinosis, Neuronal, 3

Search GEO for disease gene expression data for Ceroid Lipofuscinosis, Neuronal, 3.

Pathways for Ceroid Lipofuscinosis, Neuronal, 3

Pathways related to Ceroid Lipofuscinosis, Neuronal, 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.11 CLN3 CLN5 CTSD PPT1 TPP1

GO Terms for Ceroid Lipofuscinosis, Neuronal, 3

Cellular components related to Ceroid Lipofuscinosis, Neuronal, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane raft GO:0045121 9.33 CLN3 CTSD PPT1
2 specific granule lumen GO:0035580 9.32 CTSD HP
3 tertiary granule lumen GO:1904724 9.26 CTSD HP
4 lysosomal lumen GO:0043202 9.13 CTSD PPT1 TPP1
5 lysosome GO:0005764 9.02 CLN3 CLN5 CTSD PPT1 TPP1

Biological processes related to Ceroid Lipofuscinosis, Neuronal, 3 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.67 CLN3 HP PPT1
2 IRE1-mediated unfolded protein response GO:0036498 9.52 SULT1A3 TPP1
3 neuromuscular process controlling balance GO:0050885 9.51 CLN3 TPP1
4 associative learning GO:0008306 9.48 CLN3 PPT1
5 3-phosphoadenosine 5-phosphosulfate metabolic process GO:0050427 9.46 SULT1A1 SULT1A3
6 lysosome organization GO:0007040 9.46 CLN3 CLN6 PPT1 TPP1
7 ethanol catabolic process GO:0006068 9.43 SULT1A1 SULT1A3
8 catecholamine metabolic process GO:0006584 9.4 SULT1A1 SULT1A3
9 sulfation GO:0051923 9.37 SULT1A1 SULT1A3
10 flavonoid metabolic process GO:0009812 9.32 SULT1A1 SULT1A3
11 cellular macromolecule catabolic process GO:0044265 9.26 CLN6 PPT1
12 lysosomal lumen acidification GO:0007042 9.26 CLN3 CLN5 CLN6 PPT1
13 protein catabolic process GO:0030163 9.1 CLN3 CLN5 CLN6 CTSD PPT1 TPP1

Molecular functions related to Ceroid Lipofuscinosis, Neuronal, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sulfotransferase activity GO:0008146 9.16 SULT1A1 SULT1A3
2 serine-type endopeptidase activity GO:0004252 9.13 CTSD HP TPP1
3 aryl sulfotransferase activity GO:0004062 8.62 SULT1A1 SULT1A3

Sources for Ceroid Lipofuscinosis, Neuronal, 3

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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29 HGMD
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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