CLN3
MCID: CRD186
MIFTS: 59

Ceroid Lipofuscinosis, Neuronal, 3 (CLN3)

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

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 3

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 3:

Name: Ceroid Lipofuscinosis, Neuronal, 3 58 76 13
Juvenile Neuronal Ceroid Lipofuscinosis 12 54 26 60 76 30 6 74
Batten Disease 58 12 77 55 60 76 38 56
Neuronal Ceroid Lipofuscinosis 3 12 54 15
Spielmeyer-Vogt Disease 77 26 60
Cln3 58 12 76
Jncl 58 60 76
Spielmeyer-Sjogren Disease 58 76
Vogt-Spielmeyer Disease 58 76
Cln3 Disease 26 60
Neuronal Ceroid Lipofuscinosis, Juvenile; Jncl 58
Cln3-Related Neuronal Ceroid-Lipofuscinosis 26
Neuronal Ceroid Lipofuscinosis, Juvenile 58
Lipofuscinosis, Ceroid, Neuronal, Type 3 41
Juvenile Cerebroretinal Degeneration 26
Batten-Spielmeyer-Vogt Disease 26
Spielmeyer Sjogren Disease 54
Vogt Spielmeyer Disease 54
Juvenile Batten Disease 26
Cln3 Disease, Juvenile 54
Batten-Mayou Disease 26
Juvenile Ncl 60

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
ceroid lipofuscinosis, neuronal, 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ceroid Lipofuscinosis, Neuronal, 3

NINDS : 55 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.

MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 3, also known as juvenile neuronal ceroid lipofuscinosis, is related to lysosomal storage disease and ceroid lipofuscinosis, neuronal, 10, and has symptoms including seizures, myoclonus and abnormality of extrapyramidal motor function. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 3 is CLN3 (CLN3 Lysosomal/Endosomal Transmembrane Protein, 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 testes, heart and eye, and related phenotypes are ataxia and neurological speech impairment

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.

Genetics Home Reference : 26 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.

NIH Rare Diseases : 54 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.

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 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 50)
# Related Disease Score Top Affiliating Genes
1 lysosomal storage disease 31.9 CLN3 PPT1 TPP1
2 ceroid lipofuscinosis, neuronal, 10 31.7 CLN3 CLN5 CLN6 CLN8 CTSD
3 inherited metabolic disorder 31.6 CLN3 PPT1
4 ceroid lipofuscinosis, neuronal, 1 31.5 CLN3 CLN5 CLN6 CLN8 CTSD PPT1
5 neuronal ceroid lipofuscinosis 31.3 BAMBI CLN3 CLN5 CLN6 CLN8 CTSD
6 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 31.3 CLN5 CLN6 CLN8
7 ceroid lipofuscinosis, neuronal, 2 31.3 CLN3 CLN5 CLN6 CLN8 CTSD PPT1
8 ceroid storage disease 31.1 CLN3 CLN5 CLN6 CLN8 PPT1 TPP1
9 neuronal ceroid-lipofuscinoses 30.6 BAMBI CLN3 CLN5 CLN6 CLN8 CTSD
10 lipid storage disease 30.6 CLN3 CLN5 CLN6 CLN8 PPT1 TPP1
11 ceroid lipofuscinosis, neuronal, 11 30.6 CLN3 CLN5 CLN6 CLN8 CTSD PPT1
12 ceroid lipofuscinosis, neuronal, 7 29.4 CLN3 CLN5 CLN6 CLN8
13 retinitis pigmentosa 11.3
14 myoclonic epilepsy of lafora 11.2
15 phelan-mcdermid syndrome 11.1
16 unverricht-lundborg syndrome 11.1
17 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 11.1
18 left ventricular noncompaction 10.5
19 ceroid lipofuscinosis, neuronal, 5 10.4
20 hypertrophic cardiomyopathy 10.4
21 muscle disorders 10.4
22 myopathy 10.4
23 thyroid dyshormonogenesis 2a 10.3
24 sinoatrial node disease 10.2
25 hyperandrogenism 10.2
26 sick sinus syndrome 10.2
27 neuroleptic malignant syndrome 10.2
28 kluver-bucy syndrome 10.2
29 fundus dystrophy 10.2
30 breast cancer 10.1
31 epilepsy 10.1
32 hepatocellular carcinoma 10.0
33 neutrophil migration 10.0
34 ovarian cancer 10.0
35 aging 10.0
36 ceroid lipofuscinosis, neuronal, 6 10.0
37 retinal degeneration 10.0
38 16p11.2 deletion syndrome 10.0
39 amyotrophic lateral sclerosis 1 9.9
40 huntington disease 9.9
41 fragile x syndrome 9.9
42 cataract 9.9
43 intermittent claudication 9.9
44 dementia 9.9
45 lateral sclerosis 9.9
46 depression 9.9
47 cerebral atrophy 9.9 CLN6 CTSD
48 ceroid lipofuscinosis, neuronal, 13 9.9 CLN5 CLN8
49 adult neuronal ceroid lipofuscinosis 9.9 CLN6 PPT1 TPP1
50 ceroid lipofuscinosis, neuronal, 9 9.7 CLN5 CLN6 CLN8

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

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 3:

60 33 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
2 neurological speech impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0002167
3 eeg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0002353
4 abnormal pyramidal sign 60 33 hallmark (90%) Very frequent (99-80%) HP:0007256
5 behavioral abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0000708
6 blindness 60 33 hallmark (90%) Very frequent (99-80%) HP:0000618
7 abnormality of visual evoked potentials 60 33 hallmark (90%) Very frequent (99-80%) HP:0000649
8 retinopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000488
9 abnormal electroretinogram 60 33 hallmark (90%) Very frequent (99-80%) HP:0000512
10 motor deterioration 60 33 hallmark (90%) Very frequent (99-80%) HP:0002333
11 generalized tonic-clonic seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0002069
12 dementia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000726
13 focal-onset seizure 60 33 hallmark (90%) Very frequent (99-80%) HP:0007359
14 abnormality of extrapyramidal motor function 60 33 hallmark (90%) Very frequent (99-80%) HP:0002071
15 iris hypopigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007730
16 intellectual disability 33 HP:0001249
17 seizures 33 HP:0001250
18 dysarthria 33 HP:0001260
19 cataract 33 HP:0000518
20 visual impairment 60 Very frequent (99-80%)
21 optic atrophy 33 HP:0000648
22 progressive visual loss 33 HP:0000529
23 myoclonus 33 HP:0001336
24 anxiety 33 HP:0000739
25 psychosis 33 HP:0000709
26 glaucoma 33 HP:0000501
27 mental deterioration 60 Very frequent (99-80%)
28 macular degeneration 33 HP:0000608
29 rod-cone dystrophy 33 HP:0000510
30 cerebral atrophy 33 HP:0002059
31 parkinsonism 33 HP:0001300
32 psychomotor deterioration 33 HP:0002361
33 vacuolated lymphocytes 33 HP:0001922
34 progressive inability to walk 33 HP:0002505
35 concentric hypertrophic cardiomyopathy 33 HP:0005157
36 abnormal cerebellum morphology 33 HP:0001317
37 increased neuronal autofluorescent lipopigment 33 HP:0002074
38 curvilinear intracellular accumulation of autofluorescent lipopigment storage material 33 HP:0003205
39 fingerprint intracellular accumulation of autofluorescent lipopigment storage material 33 HP:0003208
40 undetectable electroretinogram 33 HP:0000550
41 increased extraneuronal autofluorescent lipopigment 33 HP:0003463

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
dysarthria
myoclonus
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

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 3:


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

MGI Mouse Phenotypes related to Ceroid Lipofuscinosis, Neuronal, 3:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 BAMBI CLN3 CLN6 CLN8 CTSD PPT1
2 nervous system MP:0003631 9.5 CLN3 CLN5 CLN6 CLN8 CTSD PPT1
3 vision/eye MP:0005391 9.1 CLN3 CLN5 CLN6 CLN8 CTSD PPT1

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 3

Drugs for Ceroid Lipofuscinosis, Neuronal, 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
2
Cysteamine Approved, Investigational Phase 4 60-23-1 6058
3 Expectorants Phase 4
4 Free Radical Scavengers Phase 4
5 Antidotes Phase 4
6 Protective Agents Phase 4
7 Anti-Infective Agents Phase 4,Phase 2
8 Respiratory System Agents Phase 4
9 Antioxidants Phase 4
10 N-monoacetylcystine Phase 4
11 Antiviral Agents Phase 4
12
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
13
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
14
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
15
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
16
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
17
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
18
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
19 Prednisolone acetate Phase 2, Phase 3
20 Antineoplastic Agents, Alkylating Phase 2, Phase 3
21 Methylprednisolone Acetate Phase 2, Phase 3
22 Alkylating Agents Phase 2, Phase 3
23 Immunologic Factors Phase 2, Phase 3
24 Immunosuppressive Agents Phase 2, Phase 3
25 Antilymphocyte Serum Phase 2, Phase 3
26 Antirheumatic Agents Phase 2, Phase 3
27
Mycophenolic acid Approved Phase 2 24280-93-1 446541
28
Omeprazole Approved, Investigational, Vet_approved Phase 2 73590-58-6 4594
29 Antibiotics, Antitubercular Phase 2
30 Antitubercular Agents Phase 2
31 Anti-Bacterial Agents Phase 2

Interventional clinical trials:

(show all 27)
# 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 Gene Transfer Study of AAV9-CLN3 for Treatment NCL Type 3 Recruiting NCT03770572 Phase 1, Phase 2
6 AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT01414985 Phase 1, Phase 2
7 Batten CLN6 Gene Therapy Active, not recruiting NCT02725580 Phase 1, Phase 2 scAVV9.CB.CLN6
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 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
10 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
11 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
12 Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) Active, not recruiting NCT01161576 Phase 1
13 Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT00151216 Phase 1
14 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
15 Safety and Efficacy Study of HuCNS-SC in Subjects With Neuronal Ceroid Lipofuscinosis Withdrawn NCT01238315 Phase 1
16 Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities Completed NCT01966757
17 Genotype - Phenotype Correlations of LINCL Completed NCT00151268
18 Investigations of Juvenile Neuronal Ceroid Lipofuscinosis Recruiting NCT03307304
19 Clinical and Neuropsychological Investigations in Batten Disease Recruiting NCT01873924
20 Natural History of Neuronal Ceroid Lipofuscinosis, Batten's CLN6 Diseae Recruiting NCT03285425
21 Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease Recruiting NCT03862274
22 A Natural History Study of Late Infantile Variant CLN7 And CLN5 Disease Recruiting NCT03822650
23 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
24 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
25 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
26 Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT01035424
27 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 30 CLN3

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 3

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

42
Testes, Heart, Eye, Cerebellum, Skin, Brain, Cortex

Publications for Ceroid Lipofuscinosis, Neuronal, 3

Articles related to Ceroid Lipofuscinosis, Neuronal, 3:

(show top 50) (show all 146)
# Title Authors Year
1
Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis). ( 29923092 )
2019
2
Astrocytes in juvenile neuronal ceroid lipofuscinosis (CLN3) display metabolic and calcium signaling abnormalities. ( 29964296 )
2019
3
Epileptological aspects of juvenile neuronal ceroid lipofuscinosis (CLN3 disease) through the lifespan. ( 30884409 )
2019
4
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family. ( 30892110 )
2019
5
Cln3-mutations underlying juvenile NCL cause significantly reduced levels of Ppt1-protein and Ppt1-enzyme activity in the lysosome. ( 31025705 )
2019
6
Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3). ( 30446867 )
2019
7
Altered Expression of Ganglioside Metabolizing Enzymes Results in GM3 Ganglioside Accumulation in Cerebellar Cells of a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis. ( 29470438 )
2018
8
Global and Widespread Local White Matter Abnormalities in Juvenile Neuronal Ceroid Lipofuscinosis. ( 29853519 )
2018
9
Immunomodulation with minocycline rescues retinal degeneration in juvenile neuronal ceroid lipofuscinosis mice highly susceptible to light damage. ( 30042155 )
2018
10
Paroxysmal sympathetic hyperactivity in Juvenile neuronal ceroid lipofuscinosis (Batten disease). ( 30072301 )
2018
11
Aberrant adhesion impacts early development in a Dictyostelium model for juvenile neuronal ceroid lipofuscinosis. ( 27669405 )
2017
12
Age-dependent alterations in neuronal activity in the hippocampus and visual cortex in a mouse model of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3). ( 28042098 )
2017
13
Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons. ( 29041969 )
2017
14
Defective synaptic transmission causes disease signs in a mouse model of juvenile neuronal ceroid lipofuscinosis. ( 29135436 )
2017
15
Ocular morphology and function in juvenile neuronal ceroid lipofuscinosis (CLN3) in the first decade of life. ( 27486012 )
2017
16
Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)? ( 26700800 )
2016
17
Revisiting the neuronal localization and trafficking of CLN3 in juvenile neuronal ceroid lipofuscinosis. ( 27453211 )
2016
18
Self-Complementary AAV9 Gene Delivery Partially Corrects Pathology Associated with Juvenile Neuronal Ceroid Lipofuscinosis (CLN3). ( 27629717 )
2016
19
OPTICAL COHERENCE TOMOGRAPHY IN JUVENILE NEURONAL CEROID LIPOFUSCINOSIS. ( 26308342 )
2016
20
Remote Assessment of Cognitive Function in Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease): A Pilot Study of Feasibility and Reliability. ( 26336202 )
2016
21
Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease). ( 26748992 )
2016
22
Antigen presenting cell abnormalities in the Cln3(-/-) mouse model of juvenile neuronal ceroid lipofuscinosis. ( 27101989 )
2016
23
Next-Generation Sequencing in the Diagnosis of Juvenile Neuronal Ceroid Lipofuscinosis. ( 27215405 )
2016
24
Juvenile neuronal ceroid lipofuscinosis (Batten disease): current insights. ( 30050370 )
2016
25
Juvenile neuronal ceroid-lipofuscinosis with hypertrophic cardiomyopathy and left ventricular noncompaction: a case report. ( 25786759 )
2015
26
Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease). ( 24547931 )
2015
27
Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations. ( 25338278 )
2015
28
Cataract and glaucoma development in juvenile neuronal ceroid lipofuscinosis (batten disease). ( 25365415 )
2015
29
Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosis. ( 25387857 )
2015
30
Left ventricular hypertrabeculation/noncompaction in juvenile neuronal ceroid lipofuscinosis. ( 25786758 )
2015
31
Photoreceptor phagosome processing defects and disturbed autophagy in retinal pigment epithelium of Cln3Δex1-6 mice modelling juvenile neuronal ceroid lipofuscinosis (Batten disease). ( 26450516 )
2015
32
Partial correction of the CNS lysosomal storage defect in a mouse model of juvenile neuronal ceroid lipofuscinosis by neonatal CNS administration of an adeno-associated virus serotype rh.10 vector expressing the human CLN3 gene. ( 24372003 )
2014
33
Hippocampal volumes in juvenile neuronal ceroid lipofuscinosis: a longitudinal magnetic resonance imaging study. ( 24411222 )
2014
34
Severe sinus node dysfunction in a patient with juvenile neuronal ceroid lipofuscinosis. ( 24726208 )
2014
35
Evidence for aberrant astrocyte hemichannel activity in Juvenile Neuronal Ceroid Lipofuscinosis (JNCL). ( 24736558 )
2014
36
Non-invasive assessment of retinal alterations in mouse models of infantile and juvenile neuronal ceroid lipofuscinosis by spectral domain optical coherence tomography. ( 24887158 )
2014
37
[Juvenile neuronal ceroid-lipofuscinosis with hypertrophic cardiomyopathy and left ventricular noncompaction: a case report]. ( 24429647 )
2014
38
Methodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates. ( 23628560 )
2013
39
Novel CLN1 mutation with atypical juvenile neuronal ceroid lipofuscinosis. ( 23772246 )
2013
40
A novel c.1135_1138delCTGT mutation in CLN3 leads to juvenile neuronal ceroid lipofuscinosis. ( 23877479 )
2013
41
Microglia in juvenile neuronal ceroid lipofuscinosis are primed toward a pro-inflammatory phenotype. ( 23919525 )
2013
42
Neurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (Batten disease). ( 24014508 )
2013
43
Atypical juvenile neuronal ceroid lipofuscinosis: A report of three cases. ( 24082928 )
2013
44
Juvenile neuronal ceroid lipofuscinosis and education. ( 23470553 )
2013
45
Altered sensitivity of cerebellar granule cells to glutamate receptor overactivation in the Cln3(Δex7/8)-knock-in mouse model of juvenile neuronal ceroid lipofuscinosis. ( 21315126 )
2011
46
Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil. ( 21359416 )
2011
47
Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease). ( 21464428 )
2011
48
Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients. ( 21499717 )
2011
49
Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data. ( 21556831 )
2011
50
Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease). ( 22013180 )
2011

Variations for Ceroid Lipofuscinosis, Neuronal, 3

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

76
# 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 179)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLN3 NM_001042432.1(CLN3): c.461-280_677+382del deletion Pathogenic rs1555468634 GRCh37 Chromosome 16, 28497286: 28498251
2 CLN3 NM_001042432.1(CLN3): c.461-280_677+382del deletion Pathogenic rs1555468634 GRCh38 Chromosome 16, 28485965: 28486930
3 CLN3 CLN3, 3-KB DEL, NT928 deletion Pathogenic
4 CLN3 CLN3, 6-KB DEL deletion Pathogenic
5 CLN3 CLN3, IVSDS, G-C, +1/76-BP DEL deletion Pathogenic
6 CLN3 NM_000086.2(CLN3): c.883G> A (p.Glu295Lys) single nucleotide variant Pathogenic rs121434286 GRCh37 Chromosome 16, 28493821: 28493821
7 CLN3 NM_000086.2(CLN3): c.883G> A (p.Glu295Lys) single nucleotide variant Pathogenic rs121434286 GRCh38 Chromosome 16, 28482500: 28482500
8 CLN3 NM_001042432.1(CLN3): c.597C> A (p.Tyr199Ter) single nucleotide variant Pathogenic/Likely pathogenic rs267606737 GRCh37 Chromosome 16, 28497748: 28497748
9 CLN3 NM_001042432.1(CLN3): c.597C> A (p.Tyr199Ter) single nucleotide variant Pathogenic/Likely pathogenic rs267606737 GRCh38 Chromosome 16, 28486427: 28486427
10 CLN3 NM_001042432.1(CLN3): c.1000C> T (p.Arg334Cys) single nucleotide variant Likely pathogenic rs386833694 GRCh37 Chromosome 16, 28493482: 28493482
11 CLN3 NM_001042432.1(CLN3): c.1000C> T (p.Arg334Cys) single nucleotide variant Likely pathogenic rs386833694 GRCh38 Chromosome 16, 28482161: 28482161
12 CLN3 NM_001042432.1(CLN3): c.1001G> A (p.Arg334His) single nucleotide variant Pathogenic/Likely pathogenic rs386833695 GRCh37 Chromosome 16, 28493481: 28493481
13 CLN3 NM_001042432.1(CLN3): c.1001G> A (p.Arg334His) single nucleotide variant Pathogenic/Likely pathogenic rs386833695 GRCh38 Chromosome 16, 28482160: 28482160
14 CLN3 NM_001042432.1(CLN3): c.1048delC (p.Leu350Cysfs) deletion Likely pathogenic rs386833696 GRCh37 Chromosome 16, 28493434: 28493434
15 CLN3 NM_001042432.1(CLN3): c.1048delC (p.Leu350Cysfs) deletion Likely pathogenic rs386833696 GRCh38 Chromosome 16, 28482113: 28482113
16 CLN3 NM_001042432.1(CLN3): c.1054C> T (p.Gln352Ter) single nucleotide variant Pathogenic rs386833697 GRCh37 Chromosome 16, 28493428: 28493428
17 CLN3 NM_001042432.1(CLN3): c.1054C> T (p.Gln352Ter) single nucleotide variant Pathogenic rs386833697 GRCh38 Chromosome 16, 28482107: 28482107
18 CLN3 NM_001042432.1(CLN3): c.1056+3A> C single nucleotide variant Likely pathogenic rs386833698 GRCh37 Chromosome 16, 28493423: 28493423
19 CLN3 NM_001042432.1(CLN3): c.1056+3A> C single nucleotide variant Likely pathogenic rs386833698 GRCh38 Chromosome 16, 28482102: 28482102
20 CLN3 NM_001042432.1(CLN3): c.1056G> C (p.Gln352His) single nucleotide variant Likely pathogenic rs386833699 GRCh37 Chromosome 16, 28493426: 28493426
21 CLN3 NM_001042432.1(CLN3): c.1056G> C (p.Gln352His) single nucleotide variant Likely pathogenic rs386833699 GRCh38 Chromosome 16, 28482105: 28482105
22 CLN3 NM_001042432.1(CLN3): c.105G> A (p.Trp35Ter) single nucleotide variant Pathogenic rs386833700 GRCh37 Chromosome 16, 28502823: 28502823
23 CLN3 NM_001042432.1(CLN3): c.105G> A (p.Trp35Ter) single nucleotide variant Pathogenic rs386833700 GRCh38 Chromosome 16, 28491502: 28491502
24 CLN3 NM_001042432.1(CLN3): c.1195G> T (p.Glu399Ter) single nucleotide variant Likely pathogenic rs386833701 GRCh37 Chromosome 16, 28489060: 28489060
25 CLN3 NM_001042432.1(CLN3): c.1195G> T (p.Glu399Ter) single nucleotide variant Likely pathogenic rs386833701 GRCh38 Chromosome 16, 28477739: 28477739
26 CLN3 NM_001042432.1(CLN3): c.1198-1G> T single nucleotide variant Pathogenic rs386833702 GRCh37 Chromosome 16, 28488957: 28488957
27 CLN3 NM_001042432.1(CLN3): c.1198-1G> T single nucleotide variant Pathogenic rs386833702 GRCh38 Chromosome 16, 28477636: 28477636
28 CLN3 NM_001042432.1(CLN3): c.1247A> G (p.Asp416Gly) single nucleotide variant Likely pathogenic rs386833703 GRCh37 Chromosome 16, 28488907: 28488907
29 CLN3 NM_001042432.1(CLN3): c.1247A> G (p.Asp416Gly) single nucleotide variant Likely pathogenic rs386833703 GRCh38 Chromosome 16, 28477586: 28477586
30 CLN3 NM_001042432.1(CLN3): c.125+5G> A single nucleotide variant Likely pathogenic rs386833704 GRCh37 Chromosome 16, 28502798: 28502798
31 CLN3 NM_001042432.1(CLN3): c.125+5G> A single nucleotide variant Likely pathogenic rs386833704 GRCh38 Chromosome 16, 28491477: 28491477
32 CLN3 NM_001042432.1(CLN3): c.126-1G> A single nucleotide variant Likely pathogenic rs386833705 GRCh37 Chromosome 16, 28500708: 28500708
33 CLN3 NM_001042432.1(CLN3): c.126-1G> A single nucleotide variant Likely pathogenic rs386833705 GRCh38 Chromosome 16, 28489387: 28489387
34 CLN3 NM_001042432.1(CLN3): c.1268C> A (p.Ser423Ter) single nucleotide variant Likely pathogenic rs386833706 GRCh37 Chromosome 16, 28488886: 28488886
35 CLN3 NM_001042432.1(CLN3): c.1268C> A (p.Ser423Ter) single nucleotide variant Likely pathogenic rs386833706 GRCh38 Chromosome 16, 28477565: 28477565
36 CLN3 NM_001042432.1(CLN3): c.1272delG (p.Leu425Serfs) deletion Likely pathogenic rs386833707 GRCh37 Chromosome 16, 28488882: 28488882
37 CLN3 NM_001042432.1(CLN3): c.1272delG (p.Leu425Serfs) deletion Likely pathogenic rs386833707 GRCh38 Chromosome 16, 28477561: 28477561
38 CLN3 NM_001042432.1(CLN3): c.1A> C (p.Met1Leu) single nucleotide variant Likely pathogenic rs386833708 GRCh37 Chromosome 16, 28503080: 28503080
39 CLN3 NM_001042432.1(CLN3): c.1A> C (p.Met1Leu) single nucleotide variant Likely pathogenic rs386833708 GRCh38 Chromosome 16, 28491759: 28491759
40 CLN3 NM_001042432.1(CLN3): c.214C> T (p.Gln72Ter) single nucleotide variant Likely pathogenic rs386833709 GRCh37 Chromosome 16, 28500619: 28500619
41 CLN3 NM_001042432.1(CLN3): c.214C> T (p.Gln72Ter) single nucleotide variant Likely pathogenic rs386833709 GRCh38 Chromosome 16, 28489298: 28489298
42 CLN3 NM_001042432.1(CLN3): c.222+2T> G single nucleotide variant Likely pathogenic rs386833710 GRCh37 Chromosome 16, 28500609: 28500609
43 CLN3 NM_001042432.1(CLN3): c.222+2T> G single nucleotide variant Likely pathogenic rs386833710 GRCh38 Chromosome 16, 28489288: 28489288
44 CLN3 NM_001042432.1(CLN3): c.222+5G> C single nucleotide variant Likely pathogenic rs386833711 GRCh37 Chromosome 16, 28500606: 28500606
45 CLN3 NM_001042432.1(CLN3): c.222+5G> C single nucleotide variant Likely pathogenic rs386833711 GRCh38 Chromosome 16, 28489285: 28489285
46 CLN3 NM_001042432.1(CLN3): c.233dupG (p.Thr80Asnfs) duplication Likely pathogenic rs386833712 GRCh37 Chromosome 16, 28499973: 28499973
47 CLN3 NM_001042432.1(CLN3): c.233dupG (p.Thr80Asnfs) duplication Likely pathogenic rs386833712 GRCh38 Chromosome 16, 28488652: 28488652
48 CLN3 NM_001042432.1(CLN3): c.265C> T (p.Arg89Ter) single nucleotide variant Likely pathogenic rs386833713 GRCh37 Chromosome 16, 28499941: 28499941
49 CLN3 NM_001042432.1(CLN3): c.265C> T (p.Arg89Ter) single nucleotide variant Likely pathogenic rs386833713 GRCh38 Chromosome 16, 28488620: 28488620
50 CLN3 NM_001042432.1(CLN3): c.302T> C (p.Leu101Pro) single nucleotide variant Likely pathogenic rs386833714 GRCh37 Chromosome 16, 28499055: 28499055

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 KEGG:

38
# Name Kegg Source Accession
1 Lysosome hsa04142

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 18)
# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.73 CLN3 HP PPT1
2 IRE1-mediated unfolded protein response GO:0036498 9.57 SULT1A3 TPP1
3 visual perception GO:0007601 9.55 CLN6 PPT1
4 negative regulation of proteolysis GO:0045861 9.54 CLN3 CLN8
5 ceramide metabolic process GO:0006672 9.52 CLN3 CLN8
6 3'-phosphoadenosine 5'-phosphosulfate metabolic process GO:0050427 9.51 SULT1A1 SULT1A3
7 ethanol catabolic process GO:0006068 9.48 SULT1A1 SULT1A3
8 catecholamine metabolic process GO:0006584 9.46 SULT1A1 SULT1A3
9 lysosome organization GO:0007040 9.46 CLN3 CLN6 PPT1 TPP1
10 sulfation GO:0051923 9.43 SULT1A1 SULT1A3
11 flavonoid metabolic process GO:0009812 9.4 SULT1A1 SULT1A3
12 neuromuscular process controlling balance GO:0050885 9.37 CLN3 TPP1
13 associative learning GO:0008306 9.32 CLN3 PPT1
14 adult locomotory behavior GO:0008344 9.27 PPT1
15 cellular macromolecule catabolic process GO:0044265 9.26 CLN6 PPT1
16 lysosomal lumen acidification GO:0007042 9.26 CLN3 CLN5 CLN6 PPT1
17 cellular protein catabolic process GO:0044257 9.19 PPT1
18 protein catabolic process GO:0030163 9.17 CLN3 CLN5 CLN6 CLN8 CTSD PPT1

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 8.96 HP TPP1
3 aryl sulfotransferase activity GO:0004062 8.62 SULT1A1 SULT1A3

Sources for Ceroid Lipofuscinosis, Neuronal, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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41 LOVD
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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