CLN3
MCID: BTT005
MIFTS: 63

Batten Disease (CLN3) malady

Neuronal, Metabolic categories

Summaries for Batten Disease

Sources:
43NIH Rare Diseases, 44NINDS, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NINDS:44 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-lipofuscinoses and late-infantile neuronal ceroid lipofuscinosis, and has symptoms including retinopathy, retinitis pigmentosa/retinal pigmentary changes and mild visual loss/impaired visual acuity. 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 bone marrow, brain and cerebellum, and related mouse phenotypes are behavior/neurological and vision/eye.

NIH Rare Diseases:43 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:64 Batten disease (also known as Spielmeyer-Vogt-Sjögren-Batten disease) is a rare, fatal autosomal... more...

Description from OMIM:47 204200, 204500, 256730, 600143, 609055 610127 more

Aliases & Classifications for Batten Disease

Sources:
8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 43 44 10 45 49
juvenile neuronal ceroid lipofuscinosis 8 43 22 49
cln3 43 20
ceroid lipofuscinosis, neuronal 3, juvenile 61
juvenile neuronal ceroid lipfuscinosis 61
ceroid lipofuscinosis, neuronal, 3 47
ceroid lipofuscinosis neuronal 3 43
neuronal ceroid lipofuscinosis 3 43
spielmeyer sjogren disease 43
spielmeyer-vogt disease 49
cln3 disease 49
juvenile ncl 49
jncl 49


External Ids:

Disease Ontology8 DOID:0050756
ICD10 via Orphanet26 E75.4
SNOMED-CT via Orphanet58 61663001

Related Diseases for Batten Disease

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 all 43)
idRelated DiseaseScoreTop Affiliating Genes
1neuronal ceroid-lipofuscinoses31.0CTSD, PPT1, CLN8, TPP1, CLN5, CLN3
2late-infantile neuronal ceroid lipofuscinosis30.6TPP1, CLN3, CLN8, PPT1, CLN5, CTSD
3blindness30.1CLN8, CLN3, CLN5, CLN6, TPP1
4lip disease11.0
5juvenile batten disease11.0
6neuronitis10.6
7infantile neuronal ceroid lipofuscinosis10.5
8n syndrome10.5
9ceroid storage disease10.5
10hyperandrogenism10.4
11hypertrophic cardiomyopathy10.4
12neuroleptic malignant syndrome10.4
13left ventricular noncompaction10.4
14ceroid lipofuscinosis, neuronal, 1110.4
15brain disease10.4
16cln4 disease10.4
17spielmeyer-vogt disease10.3
18corneal disease10.3
19neuroretinitis10.2
20myoclonus epilepsy10.2
21ceroid lipofuscinosis neuronal 110.2
22crohn's disease10.1
23lafora disease10.1
24blue cone monochromacy10.1
25blue toe syndrome10.1
26northern epilepsy10.1
27cerebral atrophy10.1
28myoclonus10.1
29thalamic disease10.1
30mitochondrial disorders10.1
31dementia10.0CLN5
32visual epilepsy10.0CLN6, TPP1
33exocrine pancreatic insufficiency10.0SBDS
34obesity10.0CTSD, SULT1A3
35lysosomal storage disease10.0PPT1, CLN3, TPP1, CTSD
36pancreatitis10.0SULT1A3
37spindle cell hemangioma10.0ATP5G3, ATP5G1
38epilepsy syndrome10.0CLN5, CLN8, PPT1, GAD1, HP
39neuronal ceroid lipofuscinosis10.0CLN3, TPP1, CLN6, CLN8, ATP5G3, ATP5G1
40cerebritis9.9
41retinitis pigmentosa9.9
42hiv-19.9
43ceroid lipofuscinosis, neuronal, 4, parry type9.9

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



Diseases related to batten disease

Clinical Features for Batten Disease

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

204200,204500,256730,600143,609055,610127

Clinical synopsis from OMIM:

204200

Symptoms:

49 (show all 14)
  • retinopathy
  • 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
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • troubles of memory/amnesia/hypermnesia
  • psychic/behavioural troubles
  • autosomal recessive inheritance

Drugs & Therapeutics for Batten Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Batten Disease:

33
Bone marrow, Brain, Cerebellum, Retina, Thyroid, Skin, B lymphoblasts, B cells, Appendix

Animal Models for Batten Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Batten Disease:

37
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

Sources:
51PubMed
See all sources

Articles related to Batten Disease:

(show top 50)    (show all 270)
idTitleAuthorsYear
1
Batten disease: clinical aspects, molecular mechanisms, translational science, and future directions. (23838031)
2013
2
Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate. (23588842)
2013
3
Age-dependent therapeutic effect of memantine in a mouse model of juvenile Batten disease. (22683643)
2012
4
Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data. (21556831)
2011
5
Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease). (22013180)
2011
6
Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease). (20187884)
2010
7
The function of CLN3P, the Batten disease protein. (18688960)
2008
8
Novel interactions of CLN3 protein link Batten disease to dysregulation of fodrin-Na+, K+ ATPase complex. (18621045)
2008
9
Loss of the Batten disease gene CLN3 prevents exit from the TGN of the mannose 6-phosphate receptor. (18817525)
2008
10
Nitric oxide signaling is disrupted in the yeast model for Batten disease. (17475770)
2007
11
Cathepsin D deficiency and NCL/Batten disease: there's more to death than apoptosis. (17495518)
2007
12
IgG entry and deposition are components of the neuroimmune response in Batten disease. (17070688)
2007
13
Defective lysosomal arginine transport in juvenile Batten disease. (16251196)
2005
14
Characterization of lipid-linked oligosaccharide accumulation in mouse models of Batten disease. (15647513)
2005
15
CLN3L, a novel protein related to the Batten disease protein, is overexpressed in Cln3-/- mice and in Batten disease. (15240430)
2004
16
Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease. (15269304)
2004
17
CLN3P, the Batten disease protein, localizes to membrane lipid rafts (detergent-resistant membranes). (15094366)
2004
18
Membrane topology of CLN3, the protein underlying Batten disease. (12706816)
2003
19
The origin of fluorescence in the neuronal ceroid lipofuscinoses (Batten disease) and neuron cultures from affected sheep for studies of neurodegeneration. (14764335)
2002
20
CLN3 protein is targeted to neuronal synapses but excluded from synaptic vesicles: new clues to Batten disease. (11590129)
2001
21
Batten disease and the control of the Fo subunit c pore by cGMP and calcium. (11588987)
2001
22
Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease). (11723391)
2001
23
Batten's disease: clues to neuronal protein catabolism in lysosomes. (10740217)
2000
24
The yeast model for batten disease: mutations in BTN1, BTN2, and HSP30 alter pH homeostasis. (11053386)
2000
25
Localization and processing of CLN3, the protein associated to Batten disease: where is it and what does it do? (10658181)
2000
26
Histopathologic and immunocytochemical analysis of the retina and ocular tissues in Batten disease. (10964839)
2000
27
Action of BTN1, the yeast orthologue of the gene mutated in Batten disease. (10319861)
1999
28
Investigation of Batten disease with the yeast Saccharomyces cerevisiae. (10191120)
1999
29
The Batten disease gene product (CLN3p) is a Golgi integral membrane protein. (9949212)
1999
30
Evidence for phosphorylation of CLN3 protein associated with Batten disease. (9878558)
1998
31
Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3. (9119403)
1997
32
Decreased plasma carnitine and trimethyl-L-lysine levels associated with lysosomal accumulation of a trimethyl-L-lysine containing protein in Batten disease. (8988235)
1996
33
A model for Batten disease protein CLN3: functional implications from homology and mutations. (8980123)
1996
34
Physical map of the region containing the gene for Batten disease (CLN3). (7668354)
1995
35
Late-infantile Batten disease: purification of the subunit c of the mitochondrial ATP synthase from storage material. (7668344)
1995
36
The neuronal ceroid-lipofuscinoses (Batten disease): comparative aspects. (7770121)
1995
37
Batten disease (ceroid-lipofuscinosis): the enigma of subunit c of mitochondrial ATP synthase accumulation. (8786815)
1995
38
Batten disease--an overview of research and funding. (7668315)
1995
39
Morphological alterations in neocortical and cerebellar GABAergic neurons in a canine model of juvenile Batten disease. (7668331)
1995
40
Cellular distribution of lesions in Batten disease. (7668329)
1995
41
Genetic mapping of the Batten disease locus (CLN3) to the interval D16S288-D16S383 by analysis of haplotypes and allelic association. (7806237)
1994
42
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
43
4th International Symposium on the Neuronal Ceroid Lipofuscinoses (Batten's Disease). Hamburg, June 11-13, 1992. Abstracts. (1351800)
1992
44
Immunoreactivity of ceroid lipofuscin storage pigment in Batten disease with monoclonal antibodies to the amyloid beta-protein. (2911317)
1989
45
Batten disease: new research findings on the biochemical defect. (7171758)
1982
46
Non corneal closed eye electroretinography in healthy persons and in patients with neuronal ceroid lipofuscinosis (Stengel-Batten-Spielmeyer-Vogt disease). (7315215)
1981
47
Retinoyl complexes in Batten disease. (910148)
1977
48
Identification of retinoyl complexes as the autofluorescent component of the neuronal storage material in Batten disease. (841336)
1977
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

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Batten Disease:

63
id Symbol AA change Variation 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

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

Sources:
38NCBI BioSystems Database, 50PharmGKB, 12EMD Millipore, 54Reactome, 30KEGG
See all sources

Compounds for genes affiliated with Batten Disease

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 60Tocris Bioscience
See all sources

Compounds related to Batten Disease according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
12,6-dichloro-4-nitrophenol4510.6SULT1A1, SULT1A3
23,3-diiodothyronine4510.5SULT1A3, SULT1A1
32-naphthol4510.5SULT1A1, SULT1A3
43-phosphoadenosine 5-phosphate4510.5SULT1A3, SULT1A1
5mefenamic acid45 29 1112.5SULT1A1, SULT1A3
6hind iii4510.5HP, SULT1A3, SULT1A1
7phenol45 2411.4SULT1A1, SULT1A3, CTSD
8minoxidil45 29 1112.4SULT1A1, SULT1A3
9mannose 6-phosphate45 2411.3CTSD, PPT1, CLN3, TPP1
10levodopa45 1111.3SULT1A1, SULT1A3, GAD1
113-phosphoadenosine 5-phosphosulfate4510.3SULT1A3, SULT1A1
12bisphenol a4510.2SULT1A1, SULT1A3
13hydroxysteroid4510.2SULT1A1, SULT1A3
14histidine4510.2SULT1A1, SULT1A3, GAD1, CTSD
15aspartate4510.1TPP1, SULT1A3, HP, GAD1, CTSD
16daidzein4510.1SULT1A1, SULT1A3
17progesterone45 60 29 11 2414.1CTSD, GAD1, HP, SULT1A3, SULT1A1
18cholesterol45 29 11 2413.0CTSD, GAD1, HP, SULT1A3, SULT1A1
19steroid4510.0SULT1A1, SULT1A3, HP, GAD1, CTSD
20phip459.9SULT1A1, SULT1A3
21atp45 2910.8TPP1, CLN3, HP, ATP2A1, GAD1, PPT1
22lipid459.8COX4I1, PPT1, ATP2A1, HP, CLN8, CLN6

GO Terms for genes affiliated with Batten Disease

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:00981210.3SULT1A4, SULT1A1
3lysosomal lumen acidificationGO:00704210.3CLN6, PPT1, CLN3, CLN5
4neuromuscular process controlling balanceGO:05088510.3CLN8, CLN3, TPP1
5sulfationGO:05192310.3SULT1A4, SULT1A1
6catecholamine metabolic processGO:00658410.3SULT1A4, SULT1A1
7negative regulation of proteolysisGO:04586110.2CLN8, CLN3
8cellular protein catabolic processGO:04425710.2PPT1, CLN8
9visual perceptionGO:00760110.2PPT1, CLN8, CLN6, CLN5
10lysosome organizationGO:00704010.2CLN3, HOOK1, CLN8, TPP1
11ceramide metabolic processGO:00667210.1CLN3, CLN8
12protein catabolic processGO:03016310.1PPT1, CLN8, CLN6, CLN3, TPP1, CLN5
13cell deathGO:00821910.0CTSD, CLN8, CLN6, CLN3, CLN5, TPP1
143-phosphoadenosine 5-phosphosulfate metabolic processGO:0504279.9SULT1A1, SULT1A4

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Batten Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet