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 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

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8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 22GTR, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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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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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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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:00053869.5PPT1, 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

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50PubMed
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Articles related to Batten Disease:

(show top 50)    (show all 264)
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
Do females with juvenile ceroid lipofuscinosis (Batten disease) have a more severe disease course? The Danish experience. (23177590)
2013
4
N-acetylcysteine normalizes the urea cycle and DNA repair in cells from patients with Batten disease. (22692827)
2012
5
The Batten disease gene CLN3 is required for the response to oxidative stress. (21372148)
2011
6
Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease). (22013180)
2011
7
Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease). (20187884)
2010
8
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
9
Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathways. (19028667)
2009
10
Neuropeptide changes and neuroactive amino acids in CSF from humans and sheep with neuronal ceroid lipofuscinoses (NCLs, Batten disease). (19664668)
2009
11
Novel interactions of CLN3 protein link Batten disease to dysregulation of fodrin-Na+, K+ ATPase complex. (18621045)
2008
12
Loss of the Batten disease gene CLN3 prevents exit from the TGN of the mannose 6-phosphate receptor. (18817525)
2008
13
Mutant batten disease protein says "no" to unsaturated fats. (17520082)
2007
14
Cathepsin D deficiency and NCL/Batten disease: there's more to death than apoptosis. (17495518)
2007
15
High resolution 1H NMR-based metabolomics indicates a neurotransmitter cycling deficit in cerebral tissue from a mouse model of Batten disease. (16239221)
2005
16
CLN3L, a novel protein related to the Batten disease protein, is overexpressed in Cln3-/- mice and in Batten disease. (15240430)
2004
17
Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease. (15269304)
2004
18
Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosis. (12644737)
2003
19
Membrane topology of CLN3, the protein underlying Batten disease. (12706816)
2003
20
Early changes in gene expression in two models of Batten disease. (12633880)
2003
21
Mitochondrial dysfunction in the neuronal ceroid-lipofuscinoses (Batten disease). (11850114)
2002
22
The origin of fluorescence in the neuronal ceroid lipofuscinoses (Batten disease) and neuron cultures from affected sheep for studies of neurodegeneration. (14764335)
2002
23
Batten disease and the control of the Fo subunit c pore by cGMP and calcium. (11588987)
2001
24
Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease). (11723391)
2001
25
In vitro culture of neurons from sheep with Batten disease. (10329028)
1999
26
Investigation of Batten disease with the yeast Saccharomyces cerevisiae. (10191120)
1999
27
Light and electron microscopic studies on subunit c in cultured fibroblasts in late infantile and juvenile Batten disease. (9151324)
1997
28
Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3. (9119403)
1997
29
Farnesylation of Batten disease CLN3 protein. (9151320)
1997
30
Immunochemical localization of the Batten disease (CLN3) protein in retina. (9344361)
1997
31
Turnover of F1F0-ATP synthase subunit 9 and other proteolipids in normal and Batten disease fibroblasts. (9375799)
1997
32
Clinical and magnetic resonance imaging findings in Batten disease: analysis of the major mutation (1.02-kb deletion). (9392580)
1997
33
Decreased plasma carnitine and trimethyl-L-lysine levels associated with lysosomal accumulation of a trimethyl-L-lysine containing protein in Batten disease. (8988235)
1996
34
A model for Batten disease protein CLN3: functional implications from homology and mutations. (8980123)
1996
35
Batten disease (ceroid-lipofuscinosis): the enigma of subunit c of mitochondrial ATP synthase accumulation. (8786815)
1995
36
Batten disease--an overview of research and funding. (7668315)
1995
37
Morphological alterations in neocortical and cerebellar GABAergic neurons in a canine model of juvenile Batten disease. (7668331)
1995
38
Translocation 10;18 in a patient with juvenile neuronal ceroid-lipofuscinosis (Batten disease). (7668324)
1995
39
Genetic mapping of the Batten disease locus (CLN3) to the interval D16S288-D16S383 by analysis of haplotypes and allelic association. (7806237)
1994
40
Storage bodies in the ceroid-lipofuscinoses (Batten disease): low-molecular-weight components, unusual amino acids and reconstitution of fluorescent bodies from non-fluorescent components. (8411984)
1993
41
Round-table discussion of animal models of ceroid-lipofuscinosis (Batten disease). (8411980)
1993
42
Stored dolichyl pyrophosphoryl oligosaccharides in Batten disease. (1609839)
1992
43
Decreased erythrocyte and platelet phospholipids and fatty acids in juvenile neuronal ceroid-lipofuscinosis (Batten disease). (2290481)
1990
44
Immunoreactivity of ceroid lipofuscin storage pigment in Batten disease with monoclonal antibodies to the amyloid beta-protein. (2911317)
1989
45
Urinary sediment dolichol excretion in patients with Batten disease and other neurodegenerative and storage disorders. (3920636)
1985
46
Diagnosis of Batten disease from urinary sediment: a brief report. (854361)
1977
47
Retinoyl complexes in batten disease. (17842141)
1977
48
Batten disease: ocular features, differential diagnosis and diagnosis by enzyme analysis. (782600)
1976
49
Thyroid peroxidase deficiency in Batten-Spielmeyer-Vogt disease. (167705)
1975
50
The electron microscopic study of the appendix as early diagnostic means in Batten-Spielmeyer-Vogt disease. (5054700)
1972

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, 49PharmGKB, 12EMD Millipore, 53Reactome, 29KEGG
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Compounds for genes affiliated with Batten Disease

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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-nitrophenol4410.6SULT1A1, 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

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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

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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