CLN3
MCID: BTT005
MIFTS: 63

Batten Disease (CLN3) malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Batten Disease

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44NIH Rare Diseases, 45NINDS, 66Wikipedia, 48OMIM, 34MalaCards
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NINDS:45 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 autosomal recessive inheritance, psychic/behavioural troubles and troubles of memory/amnesia/hypermnesia. An important gene associated with Batten Disease is CLN3 (ceroid-lipofuscinosis, neuronal 3), and among its related pathways are Unfolded Protein Response and Lysosome. The compounds atp and mannose 6-phosphate 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:44 Batten diseaseĀ is a neurodegenerativeĀ genetic condition characterized by progressive mental and motor deterioration, seizures, and early death. symptoms ofĀ batten diseaseĀ 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.Ā batten diseaseĀ is inherited in an autosomal recessive fashion and has been associated with mutations in a gene called the cln3.Ā  although a cure has not been identified for batten disease, treatment for the symptoms is available. last updated: 9/24/2012

Wikipedia:66 Batten disease (also known as Spielmeyer-Vogt-Sj more...

Description from OMIM:48 204200, 204500, 256730, 600143, 609055 610127 more

Aliases & Classifications for Batten Disease

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Sources:
9Disease Ontology, 44NIH Rare Diseases, 45NINDS, 11DISEASES, 46Novoseek, 50Orphanet, 23GTR, 21GeneTests, 48OMIM, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

50
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 9 44 45 11 46 50
juvenile neuronal ceroid lipofuscinosis 9 44 23 50
spielmeyer-vogt disease 44 50
cln3 44 21
ceroid lipofuscinosis, neuronal 3, juvenile 63
juvenile neuronal ceroid lipfuscinosis 63
ceroid lipofuscinosis, neuronal, 3 48
ceroid lipofuscinosis neuronal 3 44
neuronal ceroid lipofuscinosis 3 44
spielmeyer sjogren disease 44
vogt spielmeyer disease 44
cln3 disease 50
juvenile ncl 50
jncl 50


External Ids:

Disease Ontology9 DOID:0050756
ICD10 via Orphanet27 E75.4
SNOMED-CT via Orphanet60 61663001

Related Diseases for Batten Disease

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Sources:
18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Batten Disease:



Diseases related to batten disease

Symptoms for Batten Disease

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

204200

Clinical features from OMIM:

204200,204500,256730,600143,609055,610127

Symptoms:

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

Drugs & Therapeutics for Batten Disease

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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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

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Sources:
21GeneTests, 23GTR
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Genetic tests related to Batten Disease:

id Genetic test Affiliating Genes
1 Cln3 Disease21 CLN3
2 Juvenile Neuronal Ceroid Lipofuscinosis23

Anatomical Context for Batten Disease

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34MalaCards
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MalaCards organs/tissues related to Batten Disease:

34
Eye, Brain, Testes, Skin, Bone marrow, Bone, Cerebellum, Retina

Animal Models for Batten Disease or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Batten Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.2CLN6, CLN3, TPP1, PPT1
2MP:00053918.0PPT1, CLN3, CLN5, CLN6
3MP:00036317.6CLN6, CLN5, CLN3, TPP1, PPT1

Publications for Batten Disease

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Sources:
53PubMed
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Articles related to Batten Disease:

(show top 50)    (show all 252)
idTitleAuthorsYear
1
Batten disease is linked to altered expression of mitochondria-related metabolic molecules. (23524239)
2013
2
Batten disease: clinical aspects, molecular mechanisms, translational science, and future directions. (23838031)
2013
3
Amlodipine prevents apoptotic cell death by correction of elevated intracellular calcium in a primary neuronal model of Batten disease (CLN3 disease). (23769828)
2013
4
In a model of Batten disease, palmitoyl protein thioesterase-1 deficiency is associated with brown adipose tissue and thermoregulation abnormalities. (23139814)
2012
5
The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking. (22545070)
2012
6
Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data. (21556831)
2011
7
Palmitoyl:protein thioesterase (PPT1) inhibitors can act as pharmacological chaperones in infantile Batten disease. (20346914)
2010
8
The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3. (19132115)
2009
9
S. pombe btn1, the orthologue of the Batten disease gene CLN3, is required for vacuole protein sorting of Cpy1p and Golgi exit of Vps10p. (19299465)
2009
10
Altered arginine metabolism in the central nervous system (CNS) of the Cln3-/- mouse model of juvenile Batten disease. (19284480)
2009
11
Neurodevelopmental delay in the Cln3Deltaex7/8 mouse model for Batten disease. (19243453)
2009
12
Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathways. (19028667)
2009
13
The function of CLN3P, the Batten disease protein. (18688960)
2008
14
Moving towards therapies for juvenile Batten disease? (18400221)
2008
15
Novel interactions of CLN3 protein link Batten disease to dysregulation of fodrin-Na+, K+ ATPase complex. (18621045)
2008
16
Nitric oxide signaling is disrupted in the yeast model for Batten disease. (17475770)
2007
17
A novel role of the Batten disease gene CLN3: association with BMP synthesis. (17482562)
2007
18
Characterizing pathogenic processes in Batten disease: use of small eukaryotic model systems. (17049819)
2006
19
High resolution 1H NMR-based metabolomics indicates a neurotransmitter cycling deficit in cerebral tissue from a mouse model of Batten disease. (16239221)
2005
20
Elevation of Hook1 in a disease model of Batten disease does not affect a novel interaction between Ankyrin G and Hook1. (15823567)
2005
21
Defective lysosomal arginine transport in juvenile Batten disease. (16251196)
2005
22
Characterization of lipid-linked oligosaccharide accumulation in mouse models of Batten disease. (15647513)
2005
23
Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells. (14699076)
2004
24
Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosis. (12644737)
2003
25
Functional categorization of gene expression changes in the cerebellum of a Cln3-knockout mouse model for Batten disease. (12559844)
2003
26
Mitochondrial dysfunction in the neuronal ceroid-lipofuscinoses (Batten disease). (11850114)
2002
27
Batten disease research--where we were--where we are--where we are going. (11589003)
2001
28
Proceedings of the 8th International Congress on Neuronal Ceroid Lipofuscinoses (Batten Disease). Oxford, United Kingdom, September 2000. (11588977)
2001
29
The yeast model for batten disease: mutations in BTN1, BTN2, and HSP30 alter pH homeostasis. (11053386)
2000
30
Action of BTN1, the yeast orthologue of the gene mutated in Batten disease. (10319861)
1999
31
Thirty years of Batten disease research: present status and future goals. (10191106)
1999
32
In vitro culture of neurons from sheep with Batten disease. (10329028)
1999
33
Incidence of neuronal perikaryal spheroids in neuronal ceroid lipofuscinoses (Batten disease). (9707331)
1998
34
Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. (9490299)
1998
35
Light and electron microscopic studies on subunit c in cultured fibroblasts in late infantile and juvenile Batten disease. (9151324)
1997
36
Different patterns of hydrophobic protein storage in different forms of neuronal ceroid lipofuscinosis (NCL, Batten disease). (9151321)
1997
37
A form of juvenile Batten disease with granular osmiophilic deposits. (8971748)
1996
38
Mitochondrial abnormalities in CLN2 and CLN3 forms of Batten disease. (8971698)
1996
39
Batten disease and mitochondrial pathways of proteolysis. (8812718)
1996
40
Carrier detection of Batten disease (juvenile neuronal ceroid-lipofuscinosis). (7668358)
1995
41
Physical map of the region containing the gene for Batten disease (CLN3). (7668354)
1995
42
Abnormal degradative pathway of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid-lipofuscinosis (Batten disease). (7668341)
1995
43
Mapping of two phenol sulphotransferase genes, STP and STM, to 16p: candidate genes for Batten disease. (7999068)
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
Sheep and other animals with ceroid-lipofuscinoses: their relevance to Batten disease. (1535180)
1992
46
Abnormal lysosomal cathepsin activities in leukocytes and cultured skin fibroblasts in late infantile, but not in juvenile neuronal ceroid-lipofuscinosis (Batten disease). (1638746)
1992
47
Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease). (1535179)
1992
48
Decreased erythrocyte and platelet phospholipids and fatty acids in juvenile neuronal ceroid-lipofuscinosis (Batten disease). (2290481)
1990
49
Batten disease (Spielmeyer-SjA,gren disease) and haptoglobins (HP): indication of linkage and assignment to chr. 16. (2805379)
1989
50
Accumulation of dolichol-linked oligosaccharides in ceroid-lipofuscinosis (Batten disease). (3146320)
1988

Variations for Batten Disease

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Batten Disease:

65
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

Clinvar genetic disease variations for Batten Disease:

1
id Gene Name Type Significance SNP ID Assembly Location
1CLN3NM_000086.2(CLN3): c.371_372insT (p.Ser125Glnfs)insertionPathogenicGRCh37Chr 16, 28498985: 28498986
2CLN3NM_001042432.1(CLN3): c.461-280_677+382deldeletionPathogenicGRCh37Chr 16, 28497286: 28498251
3CLN3CLN3, 3-KB DEL, NT928deletionPathogenic
4CLN3CLN3, 6-KB DELdeletionPathogenic
5CLN3CLN3, IVSDS, G-C, +1/76-BP DELdeletionPathogenic
6CLN3NM_000086.2(CLN3): c.883G> A (p.Glu295Lys)single nucleotide variantPathogenicrs121434286GRCh37Chr 16, 28493821: 28493821

Expression for genes affiliated with Batten Disease

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2BioGPS, 16Gene Expression Omnibus DataSets
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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

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51PathCards, 56Reactome, 31KEGG
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Pathways related to Batten Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3SULT1A3, TPP1
28.3CLN5, CLN3, TPP1, PPT1

Compounds for genes affiliated with Batten Disease

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46Novoseek, 30IUPHAR, 25HMDB
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Compounds related to Batten Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1atp46 309.7CLN3, TPP1, PPT1
2mannose 6-phosphate46 259.6CLN3, TPP1, PPT1
3lipid467.8PPT1, SULT1A3, CLN3, CLN6

GO Terms for genes affiliated with Batten Disease

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17Gene Ontology
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Cellular components related to Batten Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1synaptic vesicleGO:0080219.2CLN3, PPT1
2membrane raftGO:0451219.2CLN3, PPT1
3endoplasmic reticulumGO:0057839.0CLN3, CLN5, CLN6
4Golgi apparatusGO:0057948.5CLN5, CLN3, PPT1
5lysosomeGO:0057648.3CLN5, CLN3, TPP1, PPT1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1lysosome organizationGO:0070409.6CLN3, TPP1
2neuromuscular process controlling balanceGO:0508859.5TPP1, CLN3
3associative learningGO:0083069.4CLN3, PPT1
4brain developmentGO:0074209.2CLN5, PPT1
5receptor-mediated endocytosisGO:0068989.1CLN3, PPT1
6negative regulation of neuron apoptotic processGO:0435248.9CLN3, PPT1
7visual perceptionGO:0076018.8PPT1, CLN5, CLN6
8cell deathGO:0082198.7CLN6, CLN5, CLN3, TPP1
9lysosomal lumen acidificationGO:0070428.5PPT1, CLN3, CLN5, CLN6
10protein catabolic processGO:0301638.0CLN6, CLN5, CLN3, TPP1, PPT1

Products for genes affiliated with Batten Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Batten Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet