CLN3
MCID: BTT005
MIFTS: 73

Batten Disease (CLN3) malady

Neuronal diseases, Metabolic diseases categories

Summaries for Batten Disease

About this section
Sources:
42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NINDS:43 Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Symptoms of Batten disease are linked to a buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. Because vision loss is often an early sign, Batten disease may be first suspected during an eye exam. Often, an eye specialist or other physician may refer the child to a neurologist. Diagnostic tests for Batten disease include blood or urine tests, skin or tissue sampling, an electroencephalogram (EEG), electrical studies of the eyes, and brain scans.

MalaCards: Batten Disease, also known as juvenile neuronal ceroid lipofuscinosis, is related to neuronal ceroid lipofuscinosis and neuronal ceroid-lipofuscinoses, and has symptoms including extrapyramidal syndrome, troubles of memory/amnesia/hypermnesia and abnormal erg/electroretinogram/electroretinography. An important gene associated with Batten Disease is CLN3 (ceroid-lipofuscinosis, neuronal 3), and among its related pathways are melatonin degradation II and Acetaminophen metabolism. The compounds 2,6-dichloro-4-nitrophenol and 3,3-diiodothyronine have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and testes, and related mouse phenotypes are behavior/neurological and vision/eye.

NIH Rare Diseases:42 Batten disease is a neurodegenerative genetic condition characterized by progressive mental and motor deterioration, seizures, and early death. symptoms of batten disease typically appear between the ages of four and ten years. rapid vision loss resulting in total blindness is usually the first symptom observed. followed by seizures which typically present between ages five and 18 years. life expectancy generally ranges from the late teens to the 30's. batten disease is inherited in an autosomal recessive fashion and has been associated with mutations in a gene called the cln3.  although a cure has not been identified for batten disease, treatment for the symptoms is available. last updated: 9/24/2012

Wikipedia:63 Batten disease (also known as Spielmeyer-Vogt-Sjögren-Batten disease) is a rare, fatal autosomal... more...

Description from OMIM:46 204200, 204500, 256730, 600143, 609055 610127 more

Aliases & Classifications for Batten Disease

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 22GTR, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
cln3 disease:
Inheritance: Autosomal recessive; Age of onset: Childhood
batten disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Childhood; Age of death: Young adult


Aliases & Descriptions:

batten disease 8 42 43 10 44 48
juvenile neuronal ceroid lipofuscinosis 8 42 22 48
cln3 42 20
ceroid lipofuscinosis, neuronal 3, juvenile 60
juvenile neuronal ceroid lipfuscinosis 60
ceroid lipofuscinosis, neuronal, 3 46
ceroid lipofuscinosis neuronal 3 42
neuronal ceroid lipofuscinosis 3 42
spielmeyer sjogren disease 42
spielmeyer-vogt disease 48
cln3 disease 48
juvenile ncl 48
jncl 48


External Ids:

Disease Ontology8 DOID:0050756
ICD10 via Orphanet26 E75.4
SNOMED-CT via Orphanet57 61663001

Related Diseases for Batten Disease

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Batten Disease family:

Juvenile Batten Disease

Diseases related to Batten Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 65)
idRelated DiseaseScoreTop Affiliating Genes
1neuronal ceroid lipofuscinosis31.2CLN3, TPP1, CLN6, CLN8, ATP5G3, ATP5G1
2neuronal ceroid-lipofuscinoses30.9CTSD, PPT1, CLN8, TPP1, CLN5, CLN3
3lysosomal storage disease30.6PPT1, CLN3, TPP1, CTSD
4pancreatitis30.2SULT1A3
5blindness30.0CLN8, CLN3, CLN5, CLN6, TPP1
6epilepsy syndrome30.0CLN5, CLN8, PPT1, GAD1, HP
7dementia30.0CLN5
8late-infantile neuronal ceroid lipofuscinosis30.0TPP1, CLN3, CLN8, PPT1, CLN5, CTSD
9neuronitis10.9
10juvenile batten disease10.5
11chromosomal disease10.4
12spielmeyer-vogt disease10.3
13hyperandrogenism10.3
14hypertrophic cardiomyopathy10.3
15neuroleptic malignant syndrome10.3
16cln4 disease10.3
17brain disease10.3
18corneal disease10.3
19tay-sachs disease10.3
20eye disease10.3
21thyroiditis10.3
22retinal disease10.2
23retinitis10.2
24neuroretinitis10.2
25progressive myoclonus epilepsy10.2
26myoclonus epilepsy10.2
27central nervous system disease10.2
28cerebellar disease10.2
29nervous system disease10.2
30crohn's disease10.0
31lafora disease10.0
32blue cone monochromacy10.0
33blue toe syndrome10.0
34inflammatory bowel disease10.0
35peripheral retinal degeneration10.0
36prostate cancer10.0
37prostatitis10.0
38retinal degeneration10.0
39northern epilepsy10.0
40cerebral atrophy10.0
41myoclonus10.0
42thalamic disease10.0
43cerebritis10.0
44fragile x syndrome10.0
45leukocyte disease10.0
46neuroblastoma10.0
47optic nerve disease10.0
48peroxisomal disease10.0
49pigmentation disease10.0
50prion disease10.0

Graphical network of the top 20 diseases related to Batten Disease:



Diseases related to batten disease

Clinical Features for Batten Disease

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

204200,204500,256730,600143,609055,610127

Clinical synopsis from OMIM:

204200

Symptoms:

48 (show all 14)
  • extrapyramidal syndrome
  • troubles of memory/amnesia/hypermnesia
  • abnormal erg/electroretinogram/electroretinography
  • eeg anomalies
  • pyramidal syndrome
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • ataxia/incoordination/trouble of the equilibrium
  • psychic/behavioural troubles
  • mild visual loss/impaired visual acuity
  • retinitis pigmentosa/retinal pigmentary changes
  • abnormal vep/visual evoked potential
  • retinopathy
  • autosomal recessive inheritance

Drugs & Therapeutics for Batten Disease

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Batten Disease

Drug clinical trials:

Search ClinicalTrials for Batten Disease

Search NIH Clinical Center for Batten Disease

Search CenterWatch for Batten Disease

Genetic Tests for Batten Disease

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Batten Disease:

id Genetic test Affiliating Genes
1 Cln3 Disease20 CLN3
2 Juvenile Neuronal Ceroid Lipofuscinosis22

Anatomical Context for Batten Disease

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Batten Disease:

32
Eye, Brain, Testes, Skin, Retina, Bone marrow, Bone, Appendix, Cerebellum, Thyroid

Animal Models for Batten Disease or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Batten Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053869.5PPT1, GAD1, BAMBI, CLN8, CLN6, CLN3
2MP:00053919.5CTSD, PPT1, CLN8, CLN6, CLN3, CLN5
3MP:00107689.1TPP1, CTSD, PPT1, GAD1, ATP2A1, HP

Publications for Batten Disease

About this section
Sources:
50PubMed
See all sources

Articles related to Batten Disease:

(show top 50)    (show all 264)
idTitleAuthorsYear
1
Osmotic stress changes the expression and subcellular localization of the Batten disease protein CLN3. (23840424)
2013
2
In a model of Batten disease, palmitoyl protein thioesterase-1 deficiency is associated with brown adipose tissue and thermoregulation abnormalities. (23139814)
2012
3
The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking. (22545070)
2012
4
Evaluation of neurodegeneration in a mouse model of infantile batten disease by magnetic resonance imaging and magnetic resonance spectroscopy. (22327870)
2012
5
Gemfibrozil and fenofibrate, Food and Drug Administration-approved lipid-lowering drugs, up-regulate tripeptidyl-peptidase 1 in brain cells via peroxisome proliferator-activated receptor I+: implications for late infantile Batten disease therapy. (22989886)
2012
6
The yeast Batten disease orthologue Btn1 controls endosome-Golgi retrograde transport via SNARE assembly. (21987636)
2011
7
Immunosuppression alters disease severity in juvenile Batten disease mice. (20937531)
2011
8
Protective potential of resveratrol against oxidative stress and apoptosis in Batten disease lymphoblast cells. (21945436)
2011
9
Palmitoyl:protein thioesterase (PPT1) inhibitors can act as pharmacological chaperones in infantile Batten disease. (20346914)
2010
10
The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3. (19132115)
2009
11
Neurodevelopmental delay in the Cln3Deltaex7/8 mouse model for Batten disease. (19243453)
2009
12
Intermediate levels of neuronal palmitoyl-protein Delta-9 desaturase in heterozygotes for murine Batten disease. (17962056)
2008
13
Absence of Btn1p in the yeast model for juvenile Batten disease may cause arginine to become toxic to yeast cells. (17341489)
2007
14
A knock-in reporter model of Batten disease. (17855597)
2007
15
Neuropsychological symptoms of juvenile-onset batten disease: experiences from 2 studies. (17690071)
2007
16
Characterizing pathogenic processes in Batten disease: use of small eukaryotic model systems. (17049819)
2006
17
AP-1 and AP-3 facilitate lysosomal targeting of Batten disease protein CLN3 via its dileucine motif. (15598649)
2005
18
Gene symbol: CLN3. Disease: Juvenile neuronal ceroid lipofuscinosis (Batten disease). (15991331)
2005
19
Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant. (15349861)
2004
20
Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway. (15471887)
2004
21
Intracellular trafficking of CLN3, the protein underlying the childhood neurodegenerative disease, Batten disease. (14644441)
2003
22
Altered flurothyl seizure induction latency, phenotype, and subsequent mortality in a mouse model of juvenile neuronal ceroid lipofuscinosis/batten disease. (12366726)
2002
23
A yeast model for classical juvenile Batten disease (CLN3). (11588983)
2001
24
Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene. (10916181)
2000
25
Thirty years of Batten disease research: present status and future goals. (10191106)
1999
26
A disrupted homologue of the human CLN3 or juvenile neuronal ceroid lipofuscinosis gene in Saccharomyces cerevisiae: a model to study Batten disease. (10384264)
1999
27
Ion pores made of mitochondrial ATP synthase subunit c in the neuronal plasma membrane and Batten disease. (10191134)
1999
28
The neuronal ceroid-lipofuscinoses (Batten disease): a new class of lysosomal storage diseases. (10407785)
1999
29
Phenotypic reversal of the btn1 defects in yeast by chloroquine: a yeast model for Batten disease. (10500178)
1999
30
Batten disease in the west of Scotland 1974-1995 including five cases of the juvenile form with granular osmiophilic deposits. (9266550)
1997
31
Bone marrow transplantation in late infantile Batten disease and juvenile Batten disease. (9151332)
1997
32
Batten disease, a twenty-eight-year struggle: past, present and future. (9151308)
1997
33
Upregulation of Bcl-2 and elevation of ceramide in Batten disease. (9151319)
1997
34
Mitochondrial abnormalities in CLN2 and CLN3 forms of Batten disease. (8971698)
1996
35
Batten disease and mitochondrial pathways of proteolysis. (8812718)
1996
36
Isolation and chromosomal mapping of a mouse homolog of the Batten disease gene CLN3. (8812504)
1996
37
Rapid diagnostic test for the major mutation underlying Batten disease. (9004140)
1996
38
Mitochondrial damage results in a reversible increase in lysosomal storage material in lymphoblasts from patients with juvenile neuronal ceroid-lipofuscinosis (Batten Disease). (7668350)
1995
39
Batten disease fibroblasts in culture accumulate mitochondrial ATP synthase subunit 9. (7613514)
1995
40
Immunocytochemical studies in the ceroid-lipofuscinoses (Batten disease) using antibodies to subunit c of mitochondrial ATP synthase. (7668326)
1995
41
Specific delay of degradation of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid lipofuscinosis (Batten disease). (7830067)
1995
42
Mapping of two phenol sulphotransferase genes, STP and STM, to 16p: candidate genes for Batten disease. (7999068)
1994
43
A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of Batten (Spielmeyer-Vogt-SjAPgren, CLN3) disease: exclusion of linkage to the CLN3 region of chromosome 16. (8020979)
1994
44
Fine genetic mapping of the Batten disease locus (CLN3) by haplotype analysis and demonstration of allelic association with chromosome 16p microsatellite loci. (8314582)
1993
45
Genetic analysis of Batten disease. (8412021)
1993
46
Ceroid, lipofuscin and the ceroid-lipofuscinoses (Batten disease). (8411981)
1993
47
Therapeutic modification of membrane lipid abnormalities in juvenile neuronal ceroid-lipofuscinosis (Batten disease). (3146326)
1988
48
Presence of abnormal amounts of dolichols in the urinary sediment of Batten disease patients. (7110772)
1982
49
The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease. (193610)
1977
50
Ceroid-lipofuscinosis (Batten disease). Fluorescein angiography, electrophysiology, histopathology, ultrastructure, and a review of amaurotic familial idiocy. (1138683)
1975

Genetic Variations for Batten Disease

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Batten Disease:

62
id Symbol AA change Variation ID SNP ID
1CLN3p.Leu101ProVAR_005131
2CLN3p.Leu170ProVAR_005132
3CLN3p.Glu295LysVAR_005133
4CLN3p.Val330PheVAR_005134
5CLN3p.Arg334CysVAR_005135
6CLN3p.Arg334HisVAR_005136
7CLN3p.Cys134ArgVAR_066892
8CLN3p.Gly187AlaVAR_066893
9CLN3p.Gly189ArgVAR_066894

Expression for genes affiliated with Batten Disease

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Batten Disease

Search GEO for disease gene expression data for Batten Disease.

Pathways for genes affiliated with Batten Disease

About this section
Sources:
37NCBI BioSystems Database, 49PharmGKB, 12EMD Millipore, 53Reactome, 29KEGG
See all sources

Compounds for genes affiliated with Batten Disease

About this section
Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience
See all sources

Compounds related to Batten Disease according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
12,6-dichloro-4-nitrophenol4410.6SULT1A1, SULT1A3
23,3-diiodothyronine4410.5SULT1A3, SULT1A1
32-naphthol4410.5SULT1A1, SULT1A3
43-phosphoadenosine 5-phosphate4410.5SULT1A3, SULT1A1
5mefenamic acid44 28 1112.5SULT1A1, SULT1A3
6hind iii4410.5HP, SULT1A3, SULT1A1
7phenol44 2411.4SULT1A1, SULT1A3, CTSD
8minoxidil44 28 1112.4SULT1A1, SULT1A3
9mannose 6-phosphate44 2411.3CTSD, PPT1, CLN3, TPP1
10levodopa44 1111.3SULT1A1, SULT1A3, GAD1
113-phosphoadenosine 5-phosphosulfate4410.3SULT1A3, SULT1A1
12bisphenol a4410.2SULT1A1, SULT1A3
13hydroxysteroid4410.2SULT1A1, SULT1A3
14histidine4410.2SULT1A1, SULT1A3, GAD1, CTSD
15aspartate4410.1TPP1, SULT1A3, HP, GAD1, CTSD
16daidzein4410.1SULT1A1, SULT1A3
17progesterone44 59 28 11 2414.1CTSD, GAD1, HP, SULT1A3, SULT1A1
18cholesterol44 28 11 2413.0CTSD, GAD1, HP, SULT1A3, SULT1A1
19steroid4410.0SULT1A1, SULT1A3, HP, GAD1, CTSD
20phip449.9SULT1A1, SULT1A3
21atp44 2810.8TPP1, CLN3, HP, ATP2A1, GAD1, PPT1
22lipid449.8COX4I1, PPT1, ATP2A1, HP, CLN8, CLN6

GO Terms for genes affiliated with Batten Disease

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Batten Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial proton-transporting ATP synthase complexGO:00575310.1ATP5G3, ATP5G1
2proton-transporting ATP synthase complex, coupling factor F(o)GO:0452639.8ATP5G3, ATP5G1
3lysosomeGO:0057649.8TPP1, CLN5, CLN3, PPT1, CTSD

Biological processes related to Batten Disease according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1associative learningGO:00830610.4PPT1, CLN8, CLN3
2flavonoid metabolic processGO:00981210.3SULT1A1, SULT1A4
3lysosomal lumen acidificationGO:00704210.3PPT1, CLN6, CLN3, CLN5
4neuromuscular process controlling balanceGO:05088510.3TPP1, CLN3, CLN8
5sulfationGO:05192310.3SULT1A4, SULT1A1
6catecholamine metabolic processGO:00658410.3SULT1A4, SULT1A1
7cellular protein catabolic processGO:04425710.2CLN8, PPT1
8visual perceptionGO:00760110.2PPT1, CLN8, CLN6, CLN5
93-phosphoadenosine 5-phosphosulfate metabolic processGO:05042710.2SULT1A1, SULT1A4
10lysosome organizationGO:00704010.2TPP1, CLN3, CLN8, HOOK1
11ceramide metabolic processGO:00667210.1CLN8, CLN3
12protein catabolic processGO:03016310.1TPP1, CLN5, CLN3, CLN6, CLN8, PPT1
13cell deathGO:00821910.0CTSD, CLN8, CLN6, CLN3, CLN5, TPP1
14negative regulation of proteolysisGO:0458619.9CLN3, CLN8

Molecular functions related to Batten Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hydrogen ion transmembrane transporter activityGO:01507810.1ATP5G3, ATP5G1
2aryl sulfotransferase activityGO:0040629.9SULT1A1, SULT1A4

Products for genes affiliated with Batten Disease

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Batten Disease

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet