CLN3
MCID: CRD186
MIFTS: 60

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 56 73 13
Juvenile Neuronal Ceroid Lipofuscinosis 12 52 25 58 73 29 6 71
Batten Disease 56 12 74 53 58 73 36 54
Neuronal Ceroid Lipofuscinosis 3 12 52 15
Spielmeyer-Vogt Disease 74 25 58
Cln3 56 12 73
Jncl 56 58 73
Spielmeyer-Sjogren Disease 56 73
Vogt-Spielmeyer Disease 56 73
Cln3 Disease 25 58
Classic Juvenile Neuronal Ceroid Lipofuscinosis 58
Neuronal Ceroid Lipofuscinosis, Juvenile; Jncl 56
Cln3-Related Neuronal Ceroid-Lipofuscinosis 25
Neuronal Ceroid Lipofuscinosis, Juvenile 56
Lipofuscinosis, Ceroid, Neuronal, Type 3 39
Juvenile Cerebroretinal Degeneration 25
Batten-Spielmeyer-Vogt Disease 25
Spielmeyer Sjogren Disease 52
Vogt Spielmeyer Disease 52
Juvenile Batten Disease 25
Cln3 Disease, Juvenile 52
Batten-Mayou Disease 25
Classic Juvenile Ncl 58
Juvenile Ncl 58

Characteristics:

Orphanet epidemiological data:

58
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:

56
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:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


Summaries for Ceroid Lipofuscinosis, Neuronal, 3

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. In children with CLN3 disease, problems with vision often begin between the ages of 4 and 8 years. Vision impairment worsens with age, and people with CLN3 disease are often blind by late childhood or adolescence. Also around age 4 to 8, children with CLN3 disease start to fall behind in school. They have difficulty learning new information and lose previously acquired skills (developmental regression), usually beginning with loss of the ability to speak in complete sentences. Movement abnormalities often develop in adolescence in people with CLN3 disease. These abnormalities include muscle rigidity or stiffness, slow or diminished movements (hypokinesia), and a stooped posture. Over time, affected individuals lose the ability to walk or sit independently and require wheelchair assistance. In rare cases, people with CLN3 disease have heart (cardiac) problems, including heart rhythm abnormalities and an increase in the size of the heart muscle (hypertrophic cardiomyopathy). These heart problems usually develop in adolescence or early adulthood. Most people with CLN3 disease live into early adulthood. CLN3 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which may also be collectively referred to as Batten disease. All these disorders affect the nervous system and typically cause worsening problems with vision, movement, and thinking ability. The different NCLs are distinguished by their genetic cause. Each disease type is given the designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to indicate its subtype.

MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 3, also known as juvenile neuronal ceroid lipofuscinosis, is related to neuronal ceroid-lipofuscinoses and cerebral atrophy, 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 heart, testes and brain, and related phenotypes are neurological speech impairment and eeg abnormality

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.

NIH Rare Diseases : 52 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 : 56 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)

NINDS : 53 Batten disease is the name for a group of inherited nervous system disorders that most often begin in childhood and interfere with a cell's ability to recycle a cellular residue called lipofuscin. Batten is commonly being used to describe the many forms of the disease, called neuronal ceroid lipofuscinosis. The many forms of the disease are classified by the gene that causes the disorder, with each gene being called CLN (ceroid lipofucinosis, neuronal) and given a different number as its subtype. Because of the different gene mutations, signs and symptoms range in severity and progress at different rates. Symptoms generally include: progressive vision loss leading to blindness, seizures, movement disorder, and dementia. Developmental skills such as standing, walking, and talking may not be achieved or are gradually lost. Other symptoms that continue to worsen over time include learning difficulties, poor concentration, and progressive loss of language skills and speech. Most children become bedridden and unable to communicate. Some children develop problems sleeping. Currently, most diagnoses of Batten disease are made by genetic testing.

KEGG : 36 Batten disease, also known as Juvenile neuronal ceroid lipofuscinoses (JNCL), is an autosomal recessive lysosomal disease. It manifests with vision loss, followed by seizures and progressive neurodegeneration, robbing children of motor skills, speech and cognition, and eventually leading to death in the second or third decade of life. Loss-of-function mutations in CLN3 are responsible for Batten disease.

UniProtKB/Swiss-Prot : 73 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 : 74 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 top 50) (show all 143)
# Related Disease Score Top Affiliating Genes
1 neuronal ceroid-lipofuscinoses 32.7 PPT1 CLN8 CLN6 CLN5 CLN3
2 cerebral atrophy 32.6 CLN6 CLN3
3 ceroid storage disease 32.5 TPP1 PPT1 DNAJC5 CLN8 CLN6 CLN5
4 ceroid lipofuscinosis, neuronal, 2 32.4 TPP1 PPT1 DNAJC5 CTSD CLN8 CLN6
5 unverricht-lundborg syndrome 32.0 CLN6 CLN5 CLN3
6 progressive myoclonus epilepsy 31.8 TPP1 KCTD7 CLN6 CLN5 CLN3
7 scheie syndrome 31.7 NAGLU CLN3 ARSH
8 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 31.4 TPP1 PPT1 DNAJC5 CTSD CLN6 CLN3
9 gm1 gangliosidosis 31.4 NAGLU CLN6 CLN3 ARSH
10 ceroid lipofuscinosis, neuronal, 1 31.3 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSD
11 ceroid lipofuscinosis, neuronal, 10 30.9 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSD
12 lysosomal storage disease 30.8 TPP1 PPT1 NAGLU MCOLN1 CTSD CLN8
13 ceroid lipofuscinosis, neuronal, 5 30.8 CLN5 ARSH
14 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 30.8 PPT1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
15 ceroid lipofuscinosis, neuronal, 9 30.8 TPP1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
16 lipid storage disease 30.7 TPP1 PPT1 MCOLN1 CTSD CLN8 CLN6
17 ceroid lipofuscinosis, neuronal, 6 30.7 MFSD8 CLN6 CLN5
18 visual epilepsy 30.6 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CLN8
19 ceroid lipofuscinosis, neuronal, 11 30.5 MFSD8 KCTD7 DNAJC5 CLN8 CLN6 CLN5
20 ceroid lipofuscinosis, neuronal, 7 30.4 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSD
21 mucopolysaccharidosis-plus syndrome 30.0 TPP1 NAGLU ARSH
22 ceroid lipofuscinosis, neuronal, 13 29.9 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSD
23 tay-sachs disease 29.9 NAGLU MCOLN1 CLN6 ARSH
24 mucolipidosis 29.6 MCOLN1 CTSD ARSH
25 mucopolysaccharidosis iii 29.5 TPP1 PPT1 NAGLU MCOLN1 KCTD7 DNAJC5
26 neuronal ceroid lipofuscinosis 26.3 YIF1A TPP1 PPT1 NAGLU MFSD8 MCOLN1
27 retinitis pigmentosa 11.7
28 kufor-rakeb syndrome 11.7
29 retinal degeneration 11.6
30 epilepsy 11.6
31 phelan-mcdermid syndrome 11.5
32 ceroid lipofuscinosis, neuronal, 8 11.5
33 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 11.2
34 myoclonic epilepsy of lafora 11.2
35 dystonia 11.2
36 cln4 disease 11.2
37 pneumothorax, primary spontaneous 11.0
38 aspartylglucosaminuria 11.0
39 secondary corneal edema 11.0
40 ureteral benign neoplasm 11.0
41 bladder clear cell adenocarcinoma 11.0
42 inherited metabolic disorder 11.0
43 atrial standstill 1 10.5
44 left ventricular noncompaction 10.5
45 myoclonus 10.4
46 myopathy 10.4
47 neuroblastoma 10.3
48 neurofibromatosis, type ii 10.2
49 autism 10.2
50 epilepsy, progressive myoclonic, 4, with or without renal failure 10.2

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:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
2 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
3 abnormal pyramidal sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0007256
4 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
5 behavioral abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0000708
6 abnormal electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0000512
7 blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0000618
8 abnormality of visual evoked potentials 58 31 hallmark (90%) Very frequent (99-80%) HP:0000649
9 retinopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000488
10 motor deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0002333
11 generalized tonic-clonic seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002069
12 dementia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000726
13 focal-onset seizure 58 31 hallmark (90%) Very frequent (99-80%) HP:0007359
14 abnormality of extrapyramidal motor function 58 31 hallmark (90%) Very frequent (99-80%) HP:0002071
15 iris hypopigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007730
16 intellectual disability 31 HP:0001249
17 seizures 31 HP:0001250
18 dysarthria 31 HP:0001260
19 cataract 31 HP:0000518
20 rod-cone dystrophy 31 HP:0000510
21 visual impairment 58 Very frequent (99-80%)
22 optic atrophy 31 HP:0000648
23 myoclonus 31 HP:0001336
24 progressive visual loss 31 HP:0000529
25 anxiety 31 HP:0000739
26 psychosis 31 HP:0000709
27 glaucoma 31 HP:0000501
28 mental deterioration 58 Very frequent (99-80%)
29 macular degeneration 31 HP:0000608
30 abnormal cerebellum morphology 31 HP:0001317
31 cerebral atrophy 31 HP:0002059
32 parkinsonism 31 HP:0001300
33 psychomotor deterioration 31 HP:0002361
34 progressive inability to walk 31 HP:0002505
35 vacuolated lymphocytes 31 HP:0001922
36 concentric hypertrophic cardiomyopathy 31 HP:0005157
37 increased neuronal autofluorescent lipopigment 31 HP:0002074
38 curvilinear intracellular accumulation of autofluorescent lipopigment storage material 31 HP:0003205
39 fingerprint intracellular accumulation of autofluorescent lipopigment storage material 31 HP:0003208
40 undetectable electroretinogram 31 HP:0000550
41 increased extraneuronal autofluorescent lipopigment 31 HP:0003463

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
dysarthria
myoclonus
dementia
cerebral atrophy
more
Neurologic Behavioral Psychiatric Manifestations:
anxiety
psychosis
mood disturbances
behavioral changes
difficulty in school

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 ATP13A2 BAMBI CLN3 CLN6 CLN8 CTSD
2 nervous system MP:0003631 10.07 ATP13A2 BAMBI CLN3 CLN5 CLN6 CLN8
3 pigmentation MP:0001186 9.55 ATP13A2 CLN8 MFSD8 NAGLU PPT1
4 renal/urinary system MP:0005367 9.5 BAMBI CLN3 HP MCOLN1 MFSD8 NAGLU
5 vision/eye MP:0005391 9.36 BAMBI CLN3 CLN5 CLN6 CLN8 CTSD

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 3

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

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
2
Cysteamine Approved, Investigational Phase 4 60-23-1 6058
3 Anti-Infective Agents Phase 4
4 N-monoacetylcystine Phase 4
5 Respiratory System Agents Phase 4
6 Free Radical Scavengers Phase 4
7 Antiviral Agents Phase 4
8 Antioxidants Phase 4
9 Protective Agents Phase 4
10 Expectorants Phase 4
11
Omeprazole Approved, Investigational, Vet_approved Phase 2 73590-58-6 4594
12
Mycophenolic acid Approved Phase 2 24280-93-1 446541
13 Antitubercular Agents Phase 2
14 Antibiotics, Antitubercular Phase 2
15 Anti-Bacterial Agents Phase 2

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 A Combination Therapy With Cystagon and N-Acetylcysteine for INCL Patients Completed NCT00028262 Phase 4 Cystagon
2 Phase II, Randomized, Placebo Controlled Trial of the Safety and Tolerability of Mycophenolate in Children With Juvenile Neuronal Ceroid Lipofuscinosis Completed NCT01399047 Phase 2 Mycophenolate mofetil;Liquid Placebo
3 Phase I/IIa Gene Transfer Clinical Trial for Juvenile Neuronal Ceroid Lipofuscinosis, Delivering the CLN3 Gene by Self-Complementary AAV9 Recruiting NCT03770572 Phase 1, Phase 2
4 Phase I/IIa Gene Transfer Clinical Trial for Variant Late Infantile Neuronal Ceroid Lipofuscinosis, Delivering the CLN6 Gene by Self-Complementary AAV9 Active, not recruiting NCT02725580 Phase 1, Phase 2
5 Direct CNS Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human CLN2 cDNA to Children With LINCL With Uncommon Genotypes and/or Moderate to Severe Impairment Active, not recruiting NCT01414985 Phase 1, Phase 2
6 A Phase 2, Open-Label, Multicenter Study to Evaluate Safety, Tolerability, and Efficacy of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease Active, not recruiting NCT02678689 Phase 2
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 Phase I Study of the Safety and Preliminary Effectiveness of Human CNS Stem Cells (HuCNS-SC) in Patients With Neuronal Ceroid Lipofuscinosis Caused by Palmitoyl Protein Thioesterase 1 (PPT1) or Tripeptidyl Peptidase 1 (TPP-I) Deficiency Completed NCT00337636 Phase 1 Medication to suppress the immune system
9 Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
10 Direct CNS Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human CLN2 cDNA to Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) Active, not recruiting NCT01161576 Phase 1
11 Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Expressing the Human CLN2 cDNA to the Brain of Children With Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT00151216 Phase 1
12 Genotype - Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00151268
13 Unrelated Donor Bone Marrow Transplantation for Definitive Treatment of Patients With Phosphoglycerate Kinase (PGK) Deficiency Completed NCT00592540
14 Investigations of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3) Recruiting NCT03307304
15 Clinical and Neuropsychological Investigations in Batten Disease Recruiting NCT01873924
16 Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease Recruiting NCT03862274
17 Natural History Study of Batten's CLN6 Disease Recruiting NCT03285425
18 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
19 Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT01035424
20 A Natural History Study of Late Infantile Variant CLN7 And CLN5 Disease Suspended NCT03822650
21 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:

40
Heart, Testes, Brain, Bone, T Cells, Eye, Cerebellum

Publications for Ceroid Lipofuscinosis, Neuronal, 3

Articles related to Ceroid Lipofuscinosis, Neuronal, 3:

(show top 50) (show all 380)
# Title Authors PMID Year
1
Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium. 54 61 56 6
7553855 1995
2
Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease). 54 61 56 6
7887420 1995
3
A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis. 61 56 6
17947292 2008
4
Spectrum of mutations in the Batten disease gene, CLN3. 54 56 6
9311735 1997
5
Rapid diagnostic test for the major mutation underlying Batten disease. 56 6
9004140 1996
6
Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR. 54 61 56
9391897 1997
7
Cataract and glaucoma development in juvenile neuronal ceroid lipofuscinosis (batten disease). 61 56
25365415 2015
8
A clinical rating scale for Batten disease: reliable and relevant for clinical trials. 61 56
16043799 2005
9
A favorable response to antiparkinsonian treatment in juvenile neuronal ceroid lipofuscinosis. 61 56
11342698 2001
10
Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis. 61 56
9450775 1998
11
Clinical and magnetic resonance imaging findings in Batten disease: analysis of the major mutation (1.02-kb deletion). 54 6
9392580 1997
12
Translocation 10;18 in a patient with juvenile neuronal ceroid-lipofuscinosis (Batten disease). 61 56
7668324 1995
13
Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes. 54 56
7887419 1995
14
Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p 12.1. 61 56
8279474 1994
15
Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12. 54 56
1746562 1991
16
Light and electron microscopic study of juvenile neuronal ceroid-lipofuscinosis lymphocytes. 61 56
3242517 1988
17
Electron microscopic studies on skin and lymphocytes in early juvenile neuronal ceroid-lipofuscinosis. 61 56
3445918 1987
18
Skin punch biopsy in the diagnosis of juvenile neuronal ceroid-lipofuscinosis. A comparison with leukocyte peroxidase assay. 61 56
188403 1977
19
TPP1 deficiency: Rare cause of isolated childhood-onset progressive ataxia. 6
26224725 2015
20
Novel CLN3 mutation causing autophagic vacuolar myopathy. 56
24827497 2014
21
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). 6
23418007 2013
22
A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function. 6
19431184 2009
23
Neuronal ceroid lipofuscinoses. 6
19084560 2009
24
The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland. 6
18684116 2008
25
CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype. 6
17959406 2008
26
Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean. 6
16570191 2006
27
Defective lysosomal arginine transport in juvenile Batten disease. 56
16251196 2005
28
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. 56
15965709 2005
29
A new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15. 6
15520412 2004
30
Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity. 6
14736728 2004
31
Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. 6
15024724 2004
32
Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies. 6
15074367 2004
33
Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations. 6
12376936 2002
34
Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles. 6
12414822 2002
35
An autoantibody inhibitory to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease. 56
12023984 2002
36
Neuronal Ceroid-Lipofuscinoses 6
20301601 2001
37
Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8. 6
11589000 2001
38
Prenatal testing for late infantile neuronal ceroid lipofuscinosis. 6
10665500 2000
39
Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. 6
10330339 1999
40
Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5. 56
10477428 1999
41
A yeast model for the study of Batten disease. 56
9618513 1998
42
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. 6
9295267 1997
43
Prenatal diagnosis of Batten's disease. 56
8606564 1996
44
Batten disease (ceroid-lipofuscinosis): the enigma of subunit c of mitochondrial ATP synthase accumulation. 56
8786815 1995
45
New insight into lysosomal protein storage disease: delayed catabolism of ATP synthase subunit c in Batten disease. 56
8786816 1995
46
Fine genetic mapping of the Batten disease locus (CLN3) by haplotype analysis and demonstration of allelic association with chromosome 16p microsatellite loci. 56
8314582 1993
47
Sheep and other animals with ceroid-lipofuscinoses: their relevance to Batten disease. 56
1535180 1992
48
Neurology of the neuronal ceroid-lipofuscinoses: late infantile and juvenile types. 56
1609833 1992
49
Incidence of neuronal ceroid-lipofuscinoses in West Germany: variation of a method for studying autosomal recessive disorders. 56
1609834 1992
50
English setter model and juvenile ceroid-lipofuscinosis in man. 56
1609842 1992

Variations for Ceroid Lipofuscinosis, Neuronal, 3

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

6 (show top 50) (show all 93) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CLN3 NM_000086.2(CLN3):c.461-280_677+382deldeletion Pathogenic 3552 rs1555468634 16:28497286-28498251 16:28485965-28486930
2 CLN3 CLN3, 3-KB DEL, NT928deletion Pathogenic 3553
3 CLN3 CLN3, 6-KB DELdeletion Pathogenic 3554
4 CLN3 CLN3, IVSDS, G-C, +1/76-BP DELdeletion Pathogenic 3555
5 CLN3 NM_000086.2(CLN3):c.883G>A (p.Glu295Lys)SNV Pathogenic 3556 rs121434286 16:28493821-28493821 16:28482500-28482500
6 CLN3 NM_000086.2(CLN3):c.1054C>T (p.Gln352Ter)SNV Pathogenic 56246 rs386833697 16:28493428-28493428 16:28482107-28482107
7 CLN3 NM_000086.2(CLN3):c.1198-1G>TSNV Pathogenic 56251 rs386833702 16:28488957-28488957 16:28477636-28477636
8 CLN3 NM_000086.2(CLN3):c.424del (p.Val142fs)deletion Pathogenic 56269 rs386833720 16:28498813-28498813 16:28487492-28487492
9 CLN3 NM_000086.2(CLN3):c.214C>T (p.Gln72Ter)SNV Pathogenic 56258 rs386833709 16:28500619-28500619 16:28489298-28489298
10 CLN3 NM_000086.2(CLN3):c.105G>A (p.Trp35Ter)SNV Pathogenic 56249 rs386833700 16:28502823-28502823 16:28491502-28491502
11 CLN3 NM_000086.2(CLN3):c.622dup (p.Ser208fs)duplication Pathogenic 56287 rs386833736 16:28497722-28497723 16:28486401-28486402
12 CLN3 NM_000086.2(CLN3):c.944dup (p.His315fs)duplication Pathogenic 56292 rs386833740 16:28493665-28493666 16:28482344-28482345
13 CLN3 NM_000086.2(CLN3):c.371_372insT (p.Ser125fs)insertion Pathogenic 100719 rs587779397 16:28498985-28498986 16:28487664-28487665
14 CLN3 NM_000086.2(CLN3):c.906+2T>ASNV Pathogenic 370455 rs771788391 16:28493796-28493796 16:28482475-28482475
15 CLN3 NM_000086.2(CLN3):c.461-279_677+384deldeletion Pathogenic 438235 rs1555468632 16:28497284-28498250 16:28485963-28486929
16 CLN3 NM_000086.2(CLN3):c.790+532_1056+1445deldeletion Pathogenic 632772 16:28491981-28494795 16:28480660-28483474
17 CLN3 NM_000086.2(CLN3):c.460+376_677+388deldeletion Pathogenic 666431 16:28497280-28498401 16:28485959-28487080
18 CLN3 NM_000086.2(CLN3):c.1059C>A (p.Cys353Ter)SNV Pathogenic/Likely pathogenic 370675 rs1057516677 16:28489196-28489196 16:28477875-28477875
19 CLN3 NM_001042432.1(CLN3):c.379del (p.Arg127fs)deletion Pathogenic/Likely pathogenic 56267 rs386833717 16:28498858-28498858 16:28487537-28487537
20 CLN3 NM_000086.2(CLN3):c.1001G>A (p.Arg334His)SNV Pathogenic/Likely pathogenic 56244 rs386833695 16:28493481-28493481 16:28482160-28482160
21 CLN3 NM_000086.2(CLN3):c.597C>A (p.Tyr199Ter)SNV Pathogenic/Likely pathogenic 3557 rs267606737 16:28497748-28497748 16:28486427-28486427
22 CLN3 NM_000086.2(CLN3):c.1000C>T (p.Arg334Cys)SNV Likely pathogenic 56243 rs386833694 16:28493482-28493482 16:28482161-28482161
23 CLN3 NM_000086.2(CLN3):c.1048del (p.Leu350fs)deletion Likely pathogenic 56245 rs386833696 16:28493434-28493434 16:28482113-28482113
24 CLN3 NM_000086.2(CLN3):c.1056+3A>CSNV Likely pathogenic 56247 rs386833698 16:28493423-28493423 16:28482102-28482102
25 CLN3 NM_000086.2(CLN3):c.1056G>C (p.Gln352His)SNV Likely pathogenic 56248 rs386833699 16:28493426-28493426 16:28482105-28482105
26 CLN3 NM_000086.2(CLN3):c.1247A>G (p.Asp416Gly)SNV Likely pathogenic 56252 rs386833703 16:28488907-28488907 16:28477586-28477586
27 CLN3 NM_000086.2(CLN3):c.125+5G>ASNV Likely pathogenic 56253 rs386833704 16:28502798-28502798 16:28491477-28491477
28 CLN3 NM_000086.2(CLN3):c.126-1G>ASNV Likely pathogenic 56254 rs386833705 16:28500708-28500708 16:28489387-28489387
29 CLN3 NM_000086.2(CLN3):c.1268C>A (p.Ser423Ter)SNV Likely pathogenic 56255 rs386833706 16:28488886-28488886 16:28477565-28477565
30 CLN3 NM_000086.2(CLN3):c.1272del (p.Leu425fs)deletion Likely pathogenic 56256 rs386833707 16:28488882-28488882 16:28477561-28477561
31 CLN3 NM_000086.2(CLN3):c.1A>C (p.Met1Leu)SNV Likely pathogenic 56257 rs386833708 16:28503080-28503080 16:28491759-28491759
32 CLN3 NM_000086.2(CLN3):c.461-13G>CSNV Likely pathogenic 56270 rs386833721 16:28497984-28497984 16:28486663-28486663
33 CLN3 NM_000086.2(CLN3):c.461-1G>ASNV Likely pathogenic 56271 rs386833722 16:28497972-28497972 16:28486651-28486651
34 CLN3 NM_000086.2(CLN3):c.461-1G>CSNV Likely pathogenic 56272 rs386833722 16:28497972-28497972 16:28486651-28486651
35 CLN3 NM_000086.2(CLN3):c.472G>C (p.Ala158Pro)SNV Likely pathogenic 56273 rs386833723 16:28497960-28497960 16:28486639-28486639
36 CLN3 NM_000086.2(CLN3):c.482C>G (p.Ser161Ter)SNV Likely pathogenic 56274 rs386833724 16:28497950-28497950 16:28486629-28486629
37 CLN3 NM_000086.2(CLN3):c.485C>G (p.Ser162Ter)SNV Likely pathogenic 56275 rs386833725 16:28497947-28497947 16:28486626-28486626
38 CLN3 NM_000086.2(CLN3):c.49G>T (p.Glu17Ter)SNV Likely pathogenic 56276 rs386833726 16:28502879-28502879 16:28491558-28491558
39 CLN3 NM_000086.2(CLN3):c.509T>C (p.Leu170Pro)SNV Likely pathogenic 56277 rs386833727 16:28497923-28497923 16:28486602-28486602
40 CLN3 NM_000086.2(CLN3):c.533+1G>ASNV Likely pathogenic 56278 rs386833728 16:28497898-28497898 16:28486577-28486577
41 CLN3 NM_000086.2(CLN3):c.533+1G>CSNV Likely pathogenic 56279 rs386833728 16:28497898-28497898 16:28486577-28486577
42 CLN3 NM_000086.2(CLN3):c.558_559del (p.Gly187fs)deletion Likely pathogenic 56280 rs386833729 16:28497786-28497787 16:28486465-28486466
43 CLN3 NM_000086.2(CLN3):c.560G>C (p.Gly187Ala)SNV Likely pathogenic 56281 rs386833730 16:28497785-28497785 16:28486464-28486464
44 CLN3 NM_000086.2(CLN3):c.565G>C (p.Gly189Arg)SNV Likely pathogenic 56282 rs386833731 16:28497780-28497780 16:28486459-28486459
45 CLN3 NM_000086.2(CLN3):c.569del (p.Gly190fs)deletion Likely pathogenic 56283 rs386833732 16:28497776-28497776 16:28486455-28486455
46 CLN3 NM_000086.2(CLN3):c.400T>C (p.Cys134Arg)SNV Likely pathogenic 56268 rs386833719 16:28498837-28498837 16:28487516-28487516
47 CLN3 NM_000086.2(CLN3):c.1195G>T (p.Glu399Ter)SNV Likely pathogenic 56250 rs386833701 16:28489060-28489060 16:28477739-28477739
48 CLN3 NM_000086.2(CLN3):c.631C>T (p.Gln211Ter)SNV Likely pathogenic 56288 rs386833737 16:28497714-28497714 16:28486393-28486393
49 CLN3 NM_000086.2(CLN3):c.883G>T (p.Glu295Ter)SNV Likely pathogenic 56290 rs121434286 16:28493821-28493821 16:28482500-28482500
50 CLN3 NM_000086.2(CLN3):c.906+5G>ASNV Likely pathogenic 56291 rs386833739 16:28493793-28493793 16:28482472-28482472

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

73
# 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

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:

36
# 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 11.32 TPP1 PPT1 NAGLU MFSD8 MCOLN1 CTSD

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 cell GO:0005623 9.8 PPT1 MCOLN1 KCTD7 CLN6 CLN5 CLN3
2 synaptic vesicle GO:0008021 9.58 PPT1 DNAJC5 CLN3
3 lysosomal lumen GO:0043202 9.55 TPP1 PPT1 NAGLU CTSD ATP13A2
4 late endosome GO:0005770 9.54 MCOLN1 CLN3 ATP13A2
5 melanosome GO:0042470 9.5 TPP1 DNAJC5 CTSD
6 lysosomal membrane GO:0005765 9.5 MFSD8 MCOLN1 DNAJC5 CTSD CLN5 CLN3
7 lysosome GO:0005764 9.28 TPP1 PPT1 NAGLU MFSD8 MCOLN1 CTSD

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.72 PPT1 DNAJC5 CLN3
2 IRE1-mediated unfolded protein response GO:0036498 9.61 YIF1A TPP1 SULT1A3
3 negative regulation of proteolysis GO:0045861 9.54 CLN8 CLN3
4 neuromuscular process controlling balance GO:0050885 9.54 TPP1 CLN8 CLN3
5 3'-phosphoadenosine 5'-phosphosulfate metabolic process GO:0050427 9.52 SULT1A3 SULT1A1
6 cellular protein catabolic process GO:0044257 9.51 PPT1 CLN8
7 associative learning GO:0008306 9.5 PPT1 CLN8 CLN3
8 ethanol catabolic process GO:0006068 9.49 SULT1A3 SULT1A1
9 sulfation GO:0051923 9.48 SULT1A3 SULT1A1
10 catecholamine metabolic process GO:0006584 9.46 SULT1A3 SULT1A1
11 lysosomal lumen acidification GO:0007042 9.46 PPT1 CLN6 CLN5 CLN3
12 cellular macromolecule catabolic process GO:0044265 9.43 PPT1 CLN8 CLN6
13 protein catabolic process GO:0030163 9.43 TPP1 PPT1 CTSD CLN8 CLN6 CLN5
14 flavonoid metabolic process GO:0009812 9.4 SULT1A3 SULT1A1
15 lysosome organization GO:0007040 9.23 TPP1 PPT1 NAGLU MFSD8 HOOK1 CLN8

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

# Name GO ID Score Top Affiliating Genes
1 aryl sulfotransferase activity GO:0004062 8.62 SULT1A3 SULT1A1

Sources for Ceroid Lipofuscinosis, Neuronal, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
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35 IUPHAR
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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