CLN3
MCID: BTT005
MIFTS: 59

Batten Disease (CLN3) malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories
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Summaries for Batten Disease

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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 based summary: Batten Disease, also known as juvenile neuronal ceroid lipofuscinosis, is related to neuronal ceroid lipofuscinosis and neuronal ceroid-lipofuscinoses, and has symptoms including 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: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:65 Batten disease (also known as Spielmeyer-Vogt-Sj more...

Description from OMIM:46 204200

Aliases & Classifications for Batten Disease

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 22GTR, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Batten Disease, Aliases & Descriptions:

Name: Batten Disease 8 42 43 10 44
Juvenile Neuronal Ceroid Lipofuscinosis 8 42 22
Vogt Spielmeyer Disease 42 62
Cln3 42 20
Ceroid Lipofuscinosis, Neuronal 3, Juvenile 62
Juvenile Neuronal Ceroid Lipfuscinosis 62
 
Ceroid Lipofuscinosis, Neuronal, 3 46
Ceroid Lipofuscinosis Neuronal 3 42
Neuronal Ceroid Lipofuscinosis 3 42
Spielmeyer Sjogren Disease 42
Spielmeyer-Vogt Disease 42
Cln3 Disease 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
cln3 disease:
Inheritance: Autosomal recessive; Age of onset: Childhood


External Ids:

Disease Ontology8 DOID:0050756
OMIM46 204200
ICD10 via Orphanet26 E75.4

Related Diseases for Batten Disease

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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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Symptoms by clinical synopsis from OMIM:

204200

Clinical features from OMIM:

204200

HPO human phenotypes related to Batten Disease:

(show all 24)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 retinitis pigmentosa HP:0000510
3 progressive visual loss HP:0000529
4 abolished electroretinogram (erg) HP:0000550
5 macular degeneration HP:0000608
6 blindness HP:0000618
7 optic atrophy HP:0000648
8 psychosis HP:0000709
9 dementia HP:0000726
10 anxiety HP:0000739
11 intellectual disability HP:0001249
12 seizures HP:0001250
13 dysarthria HP:0001260
14 parkinsonism HP:0001300
15 abnormality of the cerebellum HP:0001317
16 myoclonus HP:0001336
17 vacuolated lymphocytes HP:0001922
18 cerebral atrophy HP:0002059
19 increased neuronal autofluorescent lipopigment HP:0002074
20 psychomotor deterioration HP:0002361
21 progressive inability to walk HP:0002505
22 curvilinear intracellular accumulation of autofluorescent lipopigment storage material HP:0003205
23 fingerprint intracellular accumulation of autofluorescent lipopigment storage material HP:0003208
24 increased extraneuronal autofluorescent lipopigment HP:0003463

Drugs & Therapeutics for Batten Disease

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Drug clinical trials:

Search ClinicalTrials for Batten Disease

Search NIH Clinical Center for Batten Disease

Genetic Tests for Batten Disease

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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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MalaCards organs/tissues related to Batten Disease:

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

Animal Models for Batten Disease or affiliated genes

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MGI Mouse Phenotypes related to Batten Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.2CLN3, PPT1, CLN6, TPP1
2MP:00053918.0CLN6, PPT1, CLN3, CLN5
3MP:00036317.6PPT1, TPP1, CLN3, CLN5, CLN6

Publications for Batten Disease

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Articles related to Batten Disease:

(show top 50)    (show all 260)
idTitleAuthorsYear
1
Clinical aspects of neuroregression: our experience on batten disease. (24940373)
2014
2
The Batten disease gene CLN3 confers resistance to endoplasmic reticulum stress induced by tunicamycin. (24699413)
2014
3
Batten disease is linked to altered expression of mitochondria-related metabolic molecules. (23524239)
2013
4
Batten disease: clinical aspects, molecular mechanisms, translational science, and future directions. (23838031)
2013
5
Amlodipine prevents apoptotic cell death by correction of elevated intracellular calcium in a primary neuronal model of Batten disease (CLN3 disease). (23769828)
2013
6
In a model of Batten disease, palmitoyl protein thioesterase-1 deficiency is associated with brown adipose tissue and thermoregulation abnormalities. (23139814)
2012
7
The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking. (22545070)
2012
8
Palmitoyl:protein thioesterase (PPT1) inhibitors can act as pharmacological chaperones in infantile Batten disease. (20346914)
2010
9
The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3. (19132115)
2009
10
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
11
Altered arginine metabolism in the central nervous system (CNS) of the Cln3-/- mouse model of juvenile Batten disease. (19284480)
2009
12
Neurodevelopmental delay in the Cln3Deltaex7/8 mouse model for Batten disease. (19243453)
2009
13
Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathways. (19028667)
2009
14
The function of CLN3P, the Batten disease protein. (18688960)
2008
15
Moving towards therapies for juvenile Batten disease? (18400221)
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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UniProtKB/Swiss-Prot genetic disease variations for Batten Disease:

64
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:

6 (show all 60)
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
7CLN3NM_000086.2(CLN3): c.1000C> T (p.Arg334Cys)single nucleotide variantLikely pathogenicrs386833694GRCh37Chr 16, 28493482: 28493482
8CLN3NM_000086.2(CLN3): c.1001G> A (p.Arg334His)single nucleotide variantLikely pathogenicrs386833695GRCh37Chr 16, 28493481: 28493481
9CLN3NM_000086.2(CLN3): c.1048delC (p.Leu350Cysfs)deletionLikely pathogenicrs386833696GRCh37Chr 16, 28493434: 28493434
10CLN3NM_000086.2(CLN3): c.1054C> T (p.Gln352Ter)single nucleotide variantLikely pathogenicrs386833697GRCh37Chr 16, 28493428: 28493428
11CLN3NM_000086.2(CLN3): c.1056+3A> Csingle nucleotide variantLikely pathogenicrs386833698GRCh37Chr 16, 28493423: 28493423
12CLN3NM_000086.2(CLN3): c.1056G> C (p.Gln352His)single nucleotide variantLikely pathogenicrs386833699GRCh37Chr 16, 28493426: 28493426
13CLN3NM_000086.2(CLN3): c.105G> A (p.Trp35Ter)single nucleotide variantLikely pathogenicrs386833700GRCh37Chr 16, 28502823: 28502823
14CLN3NM_000086.2(CLN3): c.1195G> T (p.Glu399Ter)single nucleotide variantLikely pathogenicrs386833701GRCh37Chr 16, 28489060: 28489060
15CLN3NM_000086.2(CLN3): c.1198-1G> Tsingle nucleotide variantLikely pathogenicrs386833702GRCh37Chr 16, 28488957: 28488957
16CLN3NM_000086.2(CLN3): c.1247A> G (p.Asp416Gly)single nucleotide variantLikely pathogenicrs386833703GRCh37Chr 16, 28488907: 28488907
17CLN3NM_000086.2(CLN3): c.125+5G> Asingle nucleotide variantLikely pathogenicrs386833704GRCh37Chr 16, 28502798: 28502798
18CLN3NM_000086.2(CLN3): c.126-1G> Asingle nucleotide variantLikely pathogenicrs386833705GRCh37Chr 16, 28500708: 28500708
19CLN3NM_000086.2(CLN3): c.1268C> A (p.Ser423Ter)single nucleotide variantLikely pathogenicrs386833706GRCh37Chr 16, 28488886: 28488886
20CLN3NM_000086.2(CLN3): c.1272delG (p.Leu425Serfs)deletionLikely pathogenicrs386833707GRCh37Chr 16, 28488882: 28488882
21CLN3NM_000086.2(CLN3): c.1A> C (p.Met1Leu)single nucleotide variantLikely pathogenicrs386833708GRCh37Chr 16, 28503080: 28503080
22CLN3NM_000086.2(CLN3): c.214C> T (p.Gln72Ter)single nucleotide variantLikely pathogenicrs386833709GRCh37Chr 16, 28500619: 28500619
23CLN3NM_000086.2(CLN3): c.222+2T> Gsingle nucleotide variantLikely pathogenicrs386833710GRCh37Chr 16, 28500609: 28500609
24CLN3NM_000086.2(CLN3): c.222+5G> Csingle nucleotide variantLikely pathogenicrs386833711GRCh37Chr 16, 28500606: 28500606
25CLN3NM_000086.2(CLN3): c.233dupG (p.Thr80Asnfs)duplicationLikely pathogenicrs386833712GRCh37Chr 16, 28499972: 28499973
26CLN3NM_000086.2(CLN3): c.265C> T (p.Arg89Ter)single nucleotide variantLikely pathogenicrs386833713GRCh37Chr 16, 28499941: 28499941
27CLN3NM_000086.2(CLN3): c.302T> C (p.Leu101Pro)single nucleotide variantLikely pathogenicrs386833714GRCh37Chr 16, 28499055: 28499055
28CLN3NM_000086.2(CLN3): c.370dupT (p.Tyr124Leufs)duplicationLikely pathogenicrs386833715GRCh37Chr 16, 28498986: 28498987
29CLN3NM_000086.2(CLN3): c.374G> A (p.Ser125Asn)single nucleotide variantLikely pathogenicrs386833716GRCh37Chr 16, 28498983: 28498983
30CLN3NM_000086.2(CLN3): c.378_379dupCC (p.Arg127Profs)duplicationLikely pathogenicrs386833717GRCh37Chr 16, 28498857: 28498858
31CLN3NM_000086.2(CLN3): c.379delC (p.Arg127Glyfs)deletionLikely pathogenicrs386833718GRCh37Chr 16, 28498858: 28498858
32CLN3NM_000086.2(CLN3): c.400T> C (p.Cys134Arg)single nucleotide variantLikely pathogenicrs386833719GRCh37Chr 16, 28498837: 28498837
33CLN3NM_000086.2(CLN3): c.424delG (p.Val142Leufs)deletionLikely pathogenicrs386833720GRCh37Chr 16, 28498813: 28498813
34CLN3NM_000086.2(CLN3): c.461-13G> Csingle nucleotide variantLikely pathogenicrs386833721GRCh37Chr 16, 28497984: 28497984
35CLN3NM_000086.2(CLN3): c.461-1G> Asingle nucleotide variantLikely pathogenicrs386833722GRCh37Chr 16, 28497972: 28497972
36CLN3NM_000086.2(CLN3): c.461-1G> Csingle nucleotide variantLikely pathogenicrs386833722GRCh37Chr 16, 28497972: 28497972
37CLN3NM_000086.2(CLN3): c.472G> C (p.Ala158Pro)single nucleotide variantLikely pathogenicrs386833723GRCh37Chr 16, 28497960: 28497960
38CLN3NM_000086.2(CLN3): c.482C> G (p.Ser161Ter)single nucleotide variantLikely pathogenicrs386833724GRCh37Chr 16, 28497950: 28497950
39CLN3NM_000086.2(CLN3): c.485C> G (p.Ser162Ter)single nucleotide variantLikely pathogenicrs386833725GRCh37Chr 16, 28497947: 28497947
40CLN3NM_000086.2(CLN3): c.49G> T (p.Glu17Ter)single nucleotide variantLikely pathogenicrs386833726GRCh37Chr 16, 28502879: 28502879
41CLN3NM_000086.2(CLN3): c.509T> C (p.Leu170Pro)single nucleotide variantLikely pathogenicrs386833727GRCh37Chr 16, 28497923: 28497923
42CLN3NM_000086.2(CLN3): c.533+1G> Asingle nucleotide variantLikely pathogenicrs386833728GRCh37Chr 16, 28497898: 28497898
43CLN3NM_000086.2(CLN3): c.533+1G> Csingle nucleotide variantLikely pathogenicrs386833728GRCh37Chr 16, 28497898: 28497898
44CLN3NM_000086.2(CLN3): c.558_559delAG (p.Gly187Aspfs)deletionLikely pathogenicrs386833729GRCh37Chr 16, 28497786: 28497787
45CLN3NM_000086.2(CLN3): c.560G> C (p.Gly187Ala)single nucleotide variantLikely pathogenicrs386833730GRCh37Chr 16, 28497785: 28497785
46CLN3NM_000086.2(CLN3): c.565G> C (p.Gly189Arg)single nucleotide variantLikely pathogenicrs386833731GRCh37Chr 16, 28497780: 28497780
47CLN3NM_000086.2(CLN3): c.569delG (p.Gly190Glufs)deletionLikely pathogenicrs386833732GRCh37Chr 16, 28497776: 28497776
48CLN3NM_000086.2(CLN3): c.575G> A (p.Gly192Glu)single nucleotide variantLikely pathogenicrs386833733GRCh37Chr 16, 28497770: 28497770
49CLN3NM_000086.2(CLN3): c.582G> T (p.Leu194=)single nucleotide variantLikely pathogenicrs386833734GRCh37Chr 16, 28497763: 28497763
50CLN3NM_000086.2(CLN3): c.586dupG (p.Ala196Glyfs)duplicationLikely pathogenicrs386833735GRCh37Chr 16, 28497758: 28497759
51CLN3NM_000086.2(CLN3): c.622dupT (p.Ser208Phefs)duplicationLikely pathogenicrs386833736GRCh37Chr 16, 28497722: 28497723
52CLN3NM_000086.2(CLN3): c.631C> T (p.Gln211Ter)single nucleotide variantLikely pathogenicrs386833737GRCh37Chr 16, 28497714: 28497714
53CLN3NM_000086.2(CLN3): c.790+3A> Csingle nucleotide variantLikely pathogenicrs386833738GRCh37Chr 16, 28495324: 28495324
54CLN3NM_000086.2(CLN3): c.883G> T (p.Glu295Ter)single nucleotide variantLikely pathogenicrs121434286GRCh37Chr 16, 28493821: 28493821
55CLN3NM_000086.2(CLN3): c.906+5G> Asingle nucleotide variantLikely pathogenicrs386833739GRCh37Chr 16, 28493793: 28493793
56CLN3NM_000086.2(CLN3): c.944dupA (p.His315Glnfs)duplicationLikely pathogenicrs386833740GRCh37Chr 16, 28493665: 28493666
57CLN3NM_001042432.1(CLN3): c.954_962+18del27deletionLikely pathogenicrs386833741GRCh37Chr 16, 28493630: 28493656
58CLN3NM_000086.2(CLN3): c.963-1G> Tsingle nucleotide variantLikely pathogenicrs386833742GRCh37Chr 16, 28493520: 28493520
59CLN3NM_000086.2(CLN3): c.979C> T (p.Gln327Ter)single nucleotide variantLikely pathogenicrs386833743GRCh37Chr 16, 28493503: 28493503
60CLN3NM_000086.2(CLN3): c.988G> T (p.Val330Phe)single nucleotide variantLikely pathogenicrs386833744GRCh37Chr 16, 28493494: 28493494

Expression for genes affiliated with Batten Disease

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Expression patterns in normal tissues for genes affiliated with Batten Disease

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Pathways for genes affiliated with Batten Disease

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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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Sources:
44Novoseek, 28IUPHAR, 24HMDB
See all sources

Compounds related to Batten Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1atp44 289.7CLN3, TPP1, PPT1
2mannose 6-phosphate44 249.6CLN3, TPP1, PPT1
3lipid447.8PPT1, SULT1A3, CLN3, CLN6

GO Terms for genes affiliated with Batten Disease

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

Products for genes affiliated with Batten Disease

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet