MCID: JVN022
MIFTS: 22

Juvenile Batten Disease malady

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

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21Genetics Home Reference, 33MalaCards
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Genetics Home Reference:21 Juvenile Batten disease is an inherited disorder that primarily affects the nervous system. After a few years of normal development, children with this condition develop progressive vision loss, intellectual and motor disability, speech difficulties, and seizures.

MalaCards: Juvenile Batten Disease, also known as ceroid lipofuscinosis, neuronal 3, juvenile, is related to neuronal ceroid lipofuscinosis and batten disease. An important gene associated with Juvenile Batten Disease is CLN3 (ceroid-lipofuscinosis, neuronal 3). Affiliated tissues include bone marrow and bone.

Aliases & Classifications for Juvenile Batten Disease

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21Genetics Home Reference, 62UMLS
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Classifications:

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


Aliases & Descriptions:

juvenile batten disease 21
ceroid lipofuscinosis, neuronal 3, juvenile 62
cln3-related neuronal ceroid-lipofuscinosis 21
juvenile neuronal ceroid lipofuscinosis 21
juvenile neuronal ceroid lipfuscinosis 62
juvenile cerebroretinal degeneration 21
batten-spielmeyer-vogt disease 21
spielmeyer-vogt disease 21
batten-mayou disease 21


Related Diseases for Juvenile Batten Disease

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17GeneCards, 18GeneDecks
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Diseases in the Batten Disease family:

juvenile batten disease

Diseases related to Juvenile Batten Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1neuronal ceroid lipofuscinosis11.3
2batten disease10.9
3hyperandrogenism10.4
4hypertrophic cardiomyopathy10.4
5neuroleptic malignant syndrome10.4
6left ventricular noncompaction10.4
7neuronitis10.3
8thyroiditis10.3
9retinitis10.2

Graphical network of diseases related to Juvenile Batten Disease:



Diseases related to juvenile batten disease

Symptoms for Juvenile Batten Disease

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Drugs & Therapeutics for Juvenile Batten Disease

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Juvenile Batten Disease

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Anatomical Context for Juvenile Batten Disease

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33MalaCards
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MalaCards organs/tissues related to Juvenile Batten Disease:

33
Bone marrow, Bone

Animal Models for Juvenile Batten Disease or affiliated genes

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Publications for Juvenile Batten Disease

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52PubMed
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Articles related to Juvenile Batten Disease:

(show all 22)
idTitleAuthorsYear
1
The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking. (22545070)
2012
2
Age-dependent therapeutic effect of memantine in a mouse model of juvenile Batten disease. (22683643)
2012
3
Immunosuppression alters disease severity in juvenile Batten disease mice. (20937531)
2011
4
Temporary inhibition of AMPA receptors induces a prolonged improvement of motor performance in a mouse model of juvenile Batten disease. (20971125)
2011
5
Altered arginine metabolism in the central nervous system (CNS) of the Cln3-/- mouse model of juvenile Batten disease. (19284480)
2009
6
Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathways. (19028667)
2009
7
Moving towards therapies for juvenile Batten disease? (18400221)
2008
8
Identification of alpha-fetoprotein as an autoantigen in juvenile Batten disease. (17931875)
2008
9
Attenuation of AMPA receptor activity improves motor skills in a mouse model of juvenile Batten disease. (17963751)
2008
10
Absence of Btn1p in the yeast model for juvenile Batten disease may cause arginine to become toxic to yeast cells. (17341489)
2007
11
Progressive oxidative damage in the central nervous system of a murine model for juvenile Batten disease. (17638298)
2007
12
Defective lysosomal arginine transport in juvenile Batten disease. (16251196)
2005
13
Cell death pathways in juvenile Batten disease. (16151633)
2005
14
A yeast model for classical juvenile Batten disease (CLN3). (11588983)
2001
15
Ceroid lipofuscinosis, neuronal 3, Juvenile-Batten disease: case report and literature review. (12363260)
2001
16
Light and electron microscopic studies on subunit c in cultured fibroblasts in late infantile and juvenile Batten disease. (9151324)
1997
17
Bone marrow transplantation in late infantile Batten disease and juvenile Batten disease. (9151332)
1997
18
A form of juvenile Batten disease with granular osmiophilic deposits. (8971748)
1996
19
Morphological alterations in neocortical and cerebellar GABAergic neurons in a canine model of juvenile Batten disease. (7668331)
1995
20
Immunolocalization studies of subunit c in late-infantile and juvenile Batten disease. (8411976)
1993
21
Morphological approaches to the prenatal diagnosis of late-infantile and juvenile Batten disease. (8411995)
1993
22
Ceroid lipofuscinosis in the border collie dog: retinal lesions in an animal model of juvenile Batten disease. (1319117)
1992

Variations for Juvenile Batten Disease

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Juvenile Batten Disease:

1
id Gene Name Type Significance SNP ID Assembly Location
1CLN3NM_000086.2(CLN3): c.371_372insT (p.Ser125Glnfs)insertionPathogenic/card/juvenile_batten_diseaseGRCh37Chr 16, 28498985: 28498986
2CLN3NM_000086.2(CLN3): c.883G> A (p.Glu295Lys)single nucleotide variantPathogenicrs121434286GRCh37Chr 16, 28493821: 28493821

Expression for genes affiliated with Juvenile Batten Disease

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Juvenile Batten Disease

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Pathways for genes affiliated with Juvenile Batten Disease

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Compounds for genes affiliated with Juvenile Batten Disease

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GO Terms for genes affiliated with Juvenile Batten Disease

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Products for genes affiliated with Juvenile Batten Disease

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Sources for Juvenile Batten Disease

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet