CLN3
MCID: BTT005
MIFTS: 73

Batten Disease (CLN3) malady

Neuronal diseases, Metabolic diseases categories

Summaries for Batten Disease

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42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
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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 Drug metabolism - cytochrome P450. 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

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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

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Sources:
17GeneCards, 18GeneDecks
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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

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46OMIM, 48Orphanet
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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

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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:
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

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Sources:
32MalaCards
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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

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36MGI
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MGI Mouse Phenotypes related to Batten Disease:

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

Publications for Batten Disease

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50PubMed
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Articles related to Batten Disease:

(show top 50)    (show all 264)
idTitleAuthorsYear
1
Cell cycle arrest in Batten disease lymphoblast cells. (23458879)
2013
2
Large animal models for Batten disease: a review. (24014507)
2013
3
Experience, knowledge, and opinions about childhood genetic testing in batten disease. (24246680)
2013
4
Quantitative telemedicine ratings in Batten disease: implications for rare disease research. (22013181)
2011
5
A knock-in reporter mouse model for Batten disease reveals predominant expression of Cln3 in visual, limbic and subcortical motor structures. (20875858)
2011
6
pH-dependent localization of Btn1p in the yeast model for Batten disease. (20959629)
2011
7
Deletion of btn1, an orthologue of CLN3, increases glycolysis and perturbs amino acid metabolism in the fission yeast model of Batten disease. (20485751)
2010
8
Interaction between Sdo1p and Btn1p in the Saccharomyces cerevisiae model for Batten disease. (20015955)
2010
9
Altered arginine metabolism in the central nervous system (CNS) of the Cln3-/- mouse model of juvenile Batten disease. (19284480)
2009
10
Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease. (19640925)
2009
11
Curing of the [URE3] prion by Btn2p, a Batten disease-related protein. (18833194)
2008
12
Attenuation of AMPA receptor activity improves motor skills in a mouse model of juvenile Batten disease. (17963751)
2008
13
The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data. (18314010)
2008
14
Juvenile neuronal ceroid-lipofuscinosis (Batten disease): a brief review and update. (17896996)
2007
15
Timing of therapeutic intervention determines functional and survival outcomes in a mouse model of late infantile batten disease. (17637720)
2007
16
Elevation of Hook1 in a disease model of Batten disease does not affect a novel interaction between Ankyrin G and Hook1. (15823567)
2005
17
Participation of autophagy in storage of lysosomes in neurons from mouse models of neuronal ceroid-lipofuscinoses (Batten disease). (16314482)
2005
18
A clinical rating scale for Batten disease: reliable and relevant for clinical trials. (16043799)
2005
19
CLN3, the protein associated with batten disease: structure, function and localization. (15657902)
2005
20
Autoimmunity to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease. (15728308)
2005
21
Thalamocortical neuron loss and localized astrocytosis in the Cln3Deltaex7/8 knock-in mouse model of Batten disease. (16006136)
2005
22
Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells. (14699076)
2004
23
pdf1, a palmitoyl protein thioesterase 1 Ortholog in Schizosaccharomyces pombe: a yeast model of infantile Batten disease. (15075260)
2004
24
Anesthesia in a child with Batten disease. (15385024)
2004
25
A dileucine motif and a cluster of acidic amino acids in the second cytoplasmic domain of the batten disease-related CLN3 protein are required for efficient lysosomal targeting. (15469932)
2004
26
Lysine 43 is trimethylated in subunit C from bovine mitochondrial ATP synthase and in storage bodies associated with batten disease. (15010464)
2004
27
The yeast model for Batten disease: a role for Btn2p in the trafficking of the Golgi-associated vesicular targeting protein, Yif1p. (12615067)
2003
28
Neuronal ceroid lipofuscinosis/Batten disease: the lysosomal proteinoses. (12082556)
2002
29
Distribution of apolipoprotein E genotypes in fragile X syndrome and Batten disease. (10331615)
1999
30
Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected]. (10527801)
1999
31
Incidence of neuronal perikaryal spheroids in neuronal ceroid lipofuscinoses (Batten disease). (9707331)
1998
32
Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. (9490299)
1998
33
Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease. (9384607)
1998
34
The ovine model of neuronal ceroid lipofuscinosis (NCL): its contribution to understanding the pathogenesis of Batten disease. (9151325)
1997
35
A form of juvenile Batten disease with granular osmiophilic deposits. (8971748)
1996
36
Abnormal degradative pathway of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid-lipofuscinosis (Batten disease). (7668341)
1995
37
Bone marrow transplantation in Batten disease (neuronal ceroid-lipofuscinosis). Will it work? Preliminary studies on coculture experiments and on bone marrow transplant in late infantile Batten disease. (7668365)
1995
38
Analysis of Batten disease candidate genes STP and STM. (7668356)
1995
39
Isolation of a novel gene underlying Batten disease, CLN3. (7553855)
1995
40
Pathogenesis of brain dysfunction in Batten disease. (7668330)
1995
41
Batten disease and the ATP synthase subunit c turnover pathway: raising antibodies to subunit c. (7668342)
1995
42
Tissue culture loading test with storage granules from animal models of neuronal ceroid-lipofuscinosis (Batten disease): testing their lysosomal degradability by normal and Batten cells. (7668332)
1995
43
Immunolocalization studies of subunit c in late-infantile and juvenile Batten disease. (8411976)
1993
44
Abnormal lysosomal cathepsin activities in leukocytes and cultured skin fibroblasts in late infantile, but not in juvenile neuronal ceroid-lipofuscinosis (Batten disease). (1638746)
1992
45
Ceroid lipofuscinosis in the border collie dog: retinal lesions in an animal model of juvenile Batten disease. (1319117)
1992
46
Batten disease--deteriorating course of ocular findings. (1635301)
1992
47
Phospholipases and the molecular basis for the formation of ceroid in Batten disease. (2486153)
1989
48
Accumulation of dolichol-linked oligosaccharides in ceroid-lipofuscinosis (Batten disease). (3146320)
1988
49
Batten disease: past, present, and future. (3146319)
1988
50
Accumulation of phosphorylated dolichol in several tissues in ceroid-lipofuscinosis (Batten disease). (3436065)
1987

Genetic Variations for Batten Disease

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62UniProtKB/Swiss-Prot
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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

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1BioGPS, 15Gene 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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Sources:
37NCBI BioSystems Database, 29KEGG, 49PharmGKB, 12EMD Millipore, 53Reactome
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Compounds for genes affiliated with Batten Disease

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience
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Compounds related to Batten Disease according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
12,6-dichloro-4-nitrophenol4410.6SULT1A3, SULT1A1
23,3-diiodothyronine4410.5SULT1A3, SULT1A1
32-naphthol4410.5SULT1A3, SULT1A1
43-phosphoadenosine 5-phosphate4410.5SULT1A3, SULT1A1
5mefenamic acid44 28 1112.5SULT1A3, SULT1A1
6hind iii4410.5SULT1A1, SULT1A3, HP
7phenol44 2411.4SULT1A3, SULT1A1, CTSD
8minoxidil44 28 1112.4SULT1A1, SULT1A3
9mannose 6-phosphate44 2411.3CTSD, PPT1, CLN3, TPP1
10levodopa44 1111.3GAD1, SULT1A1, SULT1A3
113-phosphoadenosine 5-phosphosulfate4410.3SULT1A1, SULT1A3
12bisphenol a4410.2SULT1A1, SULT1A3
13phip4410.2SULT1A1, SULT1A3
14histidine4410.2SULT1A3, SULT1A1, CTSD, GAD1
15aspartate4410.1SULT1A3, HP, GAD1, CTSD, TPP1
16daidzein4410.1SULT1A1, SULT1A3
17progesterone44 59 28 11 2414.1GAD1, SULT1A1, HP, CTSD, SULT1A3
18cholesterol44 28 11 2413.0CTSD, HP, SULT1A3, SULT1A1, GAD1
19steroid4410.0SULT1A1, SULT1A3, HP, GAD1, CTSD
20hydroxysteroid449.9SULT1A3, SULT1A1
21atp44 2810.8TPP1, COX4I1, CTSD, PPT1, GAD1, ATP2A1
22lipid449.8SULT1A3, CLN3, CLN6, CLN8, HP, ATP2A1

GO Terms for genes affiliated with Batten Disease

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16Gene Ontology
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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

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  • 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