MCID: CRD186
MIFTS: 55

Ceroid Lipofuscinosis, Neuronal, 3

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

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 3

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 3:

Name: Ceroid Lipofuscinosis, Neuronal, 3 57 75 13
Juvenile Neuronal Ceroid Lipofuscinosis 12 53 25 59 75 29 6 73
Batten Disease 57 12 76 54 59 75 55
Cln3 57 12 75
Jncl 57 59 75
Neuronal Ceroid Lipofuscinosis 3 12 53
Spielmeyer-Sjogren Disease 57 75
Vogt-Spielmeyer Disease 57 75
Spielmeyer-Vogt Disease 25 59
Cln3 Disease 25 59
Neuronal Ceroid Lipofuscinosis, Juvenile; Jncl 57
Cln3-Related Neuronal Ceroid-Lipofuscinosis 25
Neuronal Ceroid Lipofuscinosis, Juvenile 57
Lipofuscinosis, Ceroid, Neuronal, Type 3 40
Juvenile Cerebroretinal Degeneration 25
Batten-Spielmeyer-Vogt Disease 25
Spielmeyer Sjogren Disease 53
Vogt Spielmeyer Disease 53
Juvenile Batten Disease 25
Cln3 Disease, Juvenile 53
Batten-Mayou Disease 25
Juvenile Ncl 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
ceroid lipofuscinosis, neuronal, 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ceroid Lipofuscinosis, Neuronal, 3

NINDS : 54 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. Becasue 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 now 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 myoclonus, seizures and abnormality of extrapyramidal motor function. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 3 is CLN3 (CLN3, Battenin), and among its related pathways/superpathways are Lysosome and Acetaminophen Pathway (therapeutic doses), Pharmacokinetics. The drugs Acetylcysteine and Cysteamine have been mentioned in the context of this disorder. Affiliated tissues include testes, heart and cerebellum, and related phenotypes are ataxia and neurological speech impairment

OMIM : 57 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 : 75 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 : 53 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.

Genetics Home Reference : 25 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 : 76 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 22)
# Related Disease Score Top Affiliating Genes
1 lysosomal storage disease 31.4 CLN3 PPT1 TPP1
2 ceroid lipofuscinosis, neuronal, 10 31.3 CLN3 CLN5 CTSD
3 visual epilepsy 31.2 CLN3 CLN5 PPT1
4 inherited metabolic disorder 31.2 CLN3 PPT1
5 neuronal ceroid lipofuscinosis 30.8 CLN3 CLN5 CTSD PPT1 TPP1
6 lipid storage disease 30.7 CLN3 CLN5 PPT1 TPP1
7 ceroid storage disease 30.6 CLN3 CLN5 PPT1 TPP1
8 ceroid lipofuscinosis, neuronal, 1 30.6 CLN3 CLN5 CTSD PPT1 TPP1
9 ceroid lipofuscinosis, neuronal, 2 30.3 CLN3 CLN5 CTSD PPT1 TPP1
10 ceroid lipofuscinosis, neuronal, 11 30.0 CLN3 CLN5 CTSD PPT1
11 neuronal ceroid-lipofuscinoses 29.5 BAMBI CLN3 CLN5 CTSD PPT1 TPP1
12 retinitis pigmentosa 11.1
13 myoclonic epilepsy of lafora 11.0
14 phelan-mcdermid syndrome 10.9
15 epileptic encephalopathy, childhood-onset 10.9
16 secondary corneal edema 10.9
17 bladder neck obstruction 10.9
18 unverricht-lundborg syndrome 10.9
19 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 10.9
20 adult neuronal ceroid lipofuscinosis 10.1 PPT1 TPP1
21 neuronitis 10.1
22 ceroid lipofuscinosis, neuronal, 7 10.0 CLN5 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:

57
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

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 3:

59 32 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
2 neurological speech impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002167
3 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
4 abnormal pyramidal signs 59 32 hallmark (90%) Very frequent (99-80%) HP:0007256
5 behavioral abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0000708
6 blindness 59 32 hallmark (90%) Very frequent (99-80%) HP:0000618
7 abnormality of visual evoked potentials 59 32 hallmark (90%) Very frequent (99-80%) HP:0000649
8 retinopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000488
9 abnormal electroretinogram 59 32 hallmark (90%) Very frequent (99-80%) HP:0000512
10 motor deterioration 59 32 hallmark (90%) Very frequent (99-80%) HP:0002333
11 generalized tonic-clonic seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002069
12 dementia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000726
13 abnormality of extrapyramidal motor function 59 32 hallmark (90%) Very frequent (99-80%) HP:0002071
14 focal seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0007359
15 iris hypopigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007730
16 intellectual disability 32 HP:0001249
17 seizures 32 HP:0001250
18 dysarthria 32 HP:0001260
19 visual impairment 59 Very frequent (99-80%)
20 optic atrophy 32 HP:0000648
21 progressive visual loss 32 HP:0000529
22 myoclonus 32 HP:0001336
23 anxiety 32 HP:0000739
24 psychosis 32 HP:0000709
25 macular degeneration 32 HP:0000608
26 mental deterioration 59 Very frequent (99-80%)
27 abnormality of the cerebellum 32 HP:0001317
28 rod-cone dystrophy 32 HP:0000510
29 cerebral atrophy 32 HP:0002059
30 parkinsonism 32 HP:0001300
31 psychomotor deterioration 32 HP:0002361
32 vacuolated lymphocytes 32 HP:0001922
33 progressive inability to walk 32 HP:0002505
34 increased neuronal autofluorescent lipopigment 32 HP:0002074
35 curvilinear intracellular accumulation of autofluorescent lipopigment storage material 32 HP:0003205
36 fingerprint intracellular accumulation of autofluorescent lipopigment storage material 32 HP:0003208
37 undetectable electroretinogram 32 HP:0000550
38 increased extraneuronal autofluorescent lipopigment 32 HP:0003463
39 concentric hypertrophic cardiomyopathy 32 HP:0005157

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 3:


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

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 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 Antineoplastic Agents, Alkylating Phase 2, Phase 3
18 Antirheumatic Agents Phase 2, Phase 3
19 Immunosuppressive Agents Phase 2, Phase 3
20 Methylprednisolone acetate Phase 2, Phase 3
21 Methylprednisolone Hemisuccinate Phase 2, Phase 3
22 Prednisolone acetate Phase 2, Phase 3
23 Prednisolone hemisuccinate Phase 2, Phase 3
24 Prednisolone phosphate Phase 2, Phase 3
25
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
26
Mycophenolic acid Approved Phase 2 24280-93-1 446541
27
Omeprazole Approved, Investigational, Vet_approved Phase 2 73590-58-6 4594
28 Anti-Bacterial Agents Phase 2
29 Antibiotics, Antitubercular Phase 2
30 Antitubercular Agents Phase 2
31
Menthol Approved Phase 1 2216-51-5 16666

Interventional clinical trials:

(show all 24)
# 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 Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT01035424
24 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 29 CLN3

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 3

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

41
Testes, Heart, Cerebellum, Brain, Cortex, Skin, Eye

Publications for Ceroid Lipofuscinosis, Neuronal, 3

Articles related to Ceroid Lipofuscinosis, Neuronal, 3:

(show top 50) (show all 111)
# Title Authors Year
1
Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis). ( 29923092 )
2018
2
Global and Widespread Local White Matter Abnormalities in Juvenile Neuronal Ceroid Lipofuscinosis. ( 29853519 )
2018
3
Astrocytes in Juvenile Neuronal Ceroid Lipofuscinosis (CLN3) display metabolic and calcium signaling abnormalities. ( 29964296 )
2018
4
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
5
Defective synaptic transmission causes disease signs in a mouse model of juvenile neuronal ceroid lipofuscinosis. ( 29135436 )
2017
6
Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons. ( 29041969 )
2017
7
Revisiting the neuronal localization and trafficking of CLN3 in juvenile neuronal ceroid lipofuscinosis. ( 27453211 )
2016
8
Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease). ( 26748992 )
2016
9
Self-Complementary AAV9 Gene Delivery Partially Corrects Pathology Associated with Juvenile Neuronal Ceroid Lipofuscinosis (CLN3). ( 27629717 )
2016
10
Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)? ( 26700800 )
2016
11
Ocular morphology and function in juvenile neuronal ceroid lipofuscinosis (CLN3) in the first decade of life. ( 27486012 )
2016
12
Next-Generation Sequencing in the Diagnosis of Juvenile Neuronal Ceroid Lipofuscinosis. ( 27215405 )
2016
13
Aberrant adhesion impacts early development in a Dictyostelium model for juvenile neuronal ceroid lipofuscinosis. ( 27669405 )
2016
14
Age-dependent alterations in neuronal activity in the hippocampus and visual cortex in a mouse model of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3). ( 28042098 )
2016
15
Antigen presenting cell abnormalities in the Cln3(-/-) mouse model of juvenile neuronal ceroid lipofuscinosis. ( 27101989 )
2016
16
OPTICAL COHERENCE TOMOGRAPHY IN JUVENILE NEURONAL CEROID LIPOFUSCINOSIS. ( 26308342 )
2015
17
Left ventricular hypertrabeculation/noncompaction in juvenile neuronal ceroid lipofuscinosis. ( 25786758 )
2015
18
Remote Assessment of Cognitive Function in Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease): A Pilot Study of Feasibility and Reliability. ( 26336202 )
2015
19
Juvenile neuronal ceroid-lipofuscinosis with hypertrophic cardiomyopathy and left ventricular noncompaction: a case report. ( 25786759 )
2015
20
Photoreceptor phagosome processing defects and disturbed autophagy in retinal pigment epithelium of Cln3I9ex1-6 mice modelling juvenile neuronal ceroid lipofuscinosis (Batten disease). ( 26450516 )
2015
21
Non-invasive assessment of retinal alterations in mouse models of infantile and juvenile neuronal ceroid lipofuscinosis by spectral domain optical coherence tomography. ( 24887158 )
2014
22
Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations. ( 25338278 )
2014
23
Juvenile neuronal ceroid-lipofuscinosis with hypertrophic cardiomyopathy and left ventricular noncompaction: a case report. ( 24429647 )
2014
24
Hippocampal volumes in juvenile neuronal ceroid lipofuscinosis: a longitudinal magnetic resonance imaging study. ( 24411222 )
2014
25
Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease). ( 24547931 )
2014
26
Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosis. ( 25387857 )
2014
27
Cataract and Glaucoma Development in Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease). ( 25365415 )
2014
28
Neurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (Batten disease). ( 24014508 )
2013
29
A novel c.1135_1138delCTGT mutation in CLN3 leads to juvenile neuronal ceroid lipofuscinosis. ( 23877479 )
2013
30
Partial Correction of the CNS Lysosomal Storage Defect in a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis by Neonatal CNS Administration of AAV Serotype rh.10 Vector Expressing the Human CLN3 Gene. ( 24372003 )
2013
31
Juvenile neuronal ceroid lipofuscinosis and education. ( 23470553 )
2013
32
Microglia in juvenile neuronal ceroid lipofuscinosis are primed toward a pro-inflammatory phenotype. ( 23919525 )
2013
33
Novel CLN1 mutation with atypical juvenile neuronal ceroid lipofuscinosis. ( 23772246 )
2013
34
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
35
Atypical juvenile neuronal ceroid lipofuscinosis: A report of three cases. ( 24082928 )
2013
36
Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil. ( 21359416 )
2011
37
Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients. ( 21499717 )
2011
38
Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data. ( 21556831 )
2011
39
Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease). ( 21464428 )
2011
40
Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease). ( 22013180 )
2011
41
Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease). ( 20187884 )
2010
42
Dissimilar neuropsychiatric presentations of two siblings with juvenile neuronal ceroid lipofuscinosis (Batten disease). ( 20160229 )
2010
43
Cerebellar defects in a mouse model of juvenile neuronal ceroid lipofuscinosis. ( 19230832 )
2009
44
Juvenile neuronal ceroid lipofuscinosis (JNCL) and the eye. ( 19539834 )
2009
45
Phenotypic characterization of a mouse model of juvenile neuronal ceroid lipofuscinosis. ( 17962032 )
2008
46
A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis. ( 17947292 )
2008
47
Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models. ( 18678598 )
2008
48
Intermittent prednisolone and autoantibodies to GAD65 in juvenile neuronal ceroid lipofuscinosis. ( 18378887 )
2008
49
Developmental impairments of select neurotransmitter systems in brains of Cln3(Deltaex7/8) knock-in mice, an animal model of juvenile neuronal ceroid lipofuscinosis. ( 18265413 )
2008
50
Juvenile neuronal ceroid-lipofuscinosis (Batten disease): a brief review and update. ( 17896996 )
2007

Variations for Ceroid Lipofuscinosis, Neuronal, 3

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

75
# 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 138)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLN3 NM_001042432.1(CLN3): c.461-280_677+382del deletion Pathogenic GRCh37 Chromosome 16, 28497286: 28498251
2 CLN3 NM_001042432.1(CLN3): c.461-280_677+382del deletion Pathogenic 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 Likely pathogenic rs267606737 GRCh37 Chromosome 16, 28497748: 28497748
9 CLN3 NM_001042432.1(CLN3): c.597C> A (p.Tyr199Ter) single nucleotide variant 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 Likely pathogenic rs386833695 GRCh37 Chromosome 16, 28493481: 28493481
13 CLN3 NM_001042432.1(CLN3): c.1001G> A (p.Arg334His) single nucleotide variant 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 Likely pathogenic rs386833700 GRCh37 Chromosome 16, 28502823: 28502823
23 CLN3 NM_001042432.1(CLN3): c.105G> A (p.Trp35Ter) single nucleotide variant Likely 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 Likely pathogenic rs386833702 GRCh37 Chromosome 16, 28488957: 28488957
27 CLN3 NM_001042432.1(CLN3): c.1198-1G> T single nucleotide variant Likely 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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.11 CLN3 CLN5 CTSD PPT1 TPP1
2
Show member pathways
10.85 SULT1A1 SULT1A3

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 9.63 CLN3 HP PPT1
2 IRE1-mediated unfolded protein response GO:0036498 9.52 SULT1A3 TPP1
3 neurotransmitter secretion GO:0007269 9.51 GAD1 PPT1
4 neuromuscular process controlling balance GO:0050885 9.49 CLN3 TPP1
5 associative learning GO:0008306 9.48 CLN3 PPT1
6 3-phosphoadenosine 5-phosphosulfate metabolic process GO:0050427 9.43 SULT1A1 SULT1A3
7 ethanol catabolic process GO:0006068 9.4 SULT1A1 SULT1A3
8 catecholamine metabolic process GO:0006584 9.37 SULT1A1 SULT1A3
9 lysosome organization GO:0007040 9.33 CLN3 PPT1 TPP1
10 sulfation GO:0051923 9.32 SULT1A1 SULT1A3
11 flavonoid metabolic process GO:0009812 9.26 SULT1A1 SULT1A3
12 lysosomal lumen acidification GO:0007042 9.13 CLN3 CLN5 PPT1
13 protein catabolic process GO:0030163 9.02 CLN3 CLN5 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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