MCID: JVN022
MIFTS: 20

Juvenile Batten Disease malady

Neuronal diseases category

Summaries for Juvenile Batten Disease

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Genetics Home Reference:23 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 based summary: Juvenile Batten Disease, also known as juvenile neuronal ceroid lipofuscinosis, is related to hypertrophic cardiomyopathy and left ventricular noncompaction. 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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Juvenile Batten Disease, Aliases & Descriptions:

Name: Juvenile Batten Disease 23 62
Juvenile Neuronal Ceroid Lipofuscinosis 23 62
Spielmeyer-Vogt Disease 23 62
Ceroid Lipofuscinosis, Neuronal 3, Juvenile 62
Cln3-Related Neuronal Ceroid-Lipofuscinosis 23
 
Juvenile Neuronal Ceroid Lipfuscinosis 62
Juvenile Cerebroretinal Degeneration 23
Batten-Spielmeyer-Vogt Disease 23
Batten-Mayou Disease 23


Classifications:

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


Related Diseases for Juvenile Batten Disease

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

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1hypertrophic cardiomyopathy10.6
2left ventricular noncompaction10.6
3neuronitis10.5
4cataract10.4
5hyperandrogenism10.4
6neuroleptic malignant syndrome10.4
7retinitis10.4
8thyroiditis10.3
9ceroid lipofuscinosis, neuronal, 310.2
10neuronal ceroid lipofuscinosis10.2
11retinal degeneration10.2

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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Drug clinical trials:

Search ClinicalTrials for Juvenile Batten Disease

Search NIH Clinical Center for Juvenile Batten Disease

Genetic Tests for Juvenile Batten Disease

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Anatomical Context for Juvenile Batten Disease

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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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Articles related to Juvenile Batten Disease:

(show all 23)
idTitleAuthorsYear
1
Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease). (24547931)
2014
2
The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking. (22545070)
2012
3
Age-dependent therapeutic effect of memantine in a mouse model of juvenile Batten disease. (22683643)
2012
4
Immunosuppression alters disease severity in juvenile Batten disease mice. (20937531)
2011
5
Temporary inhibition of AMPA receptors induces a prolonged improvement of motor performance in a mouse model of juvenile Batten disease. (20971125)
2011
6
Altered arginine metabolism in the central nervous system (CNS) of the Cln3-/- mouse model of juvenile Batten disease. (19284480)
2009
7
Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathways. (19028667)
2009
8
Moving towards therapies for juvenile Batten disease? (18400221)
2008
9
Identification of alpha-fetoprotein as an autoantigen in juvenile Batten disease. (17931875)
2008
10
Attenuation of AMPA receptor activity improves motor skills in a mouse model of juvenile Batten disease. (17963751)
2008
11
Absence of Btn1p in the yeast model for juvenile Batten disease may cause arginine to become toxic to yeast cells. (17341489)
2007
12
Progressive oxidative damage in the central nervous system of a murine model for juvenile Batten disease. (17638298)
2007
13
Defective lysosomal arginine transport in juvenile Batten disease. (16251196)
2005
14
Cell death pathways in juvenile Batten disease. (16151633)
2005
15
A yeast model for classical juvenile Batten disease (CLN3). (11588983)
2001
16
Ceroid lipofuscinosis, neuronal 3, Juvenile-Batten disease: case report and literature review. (12363260)
2001
17
Light and electron microscopic studies on subunit c in cultured fibroblasts in late infantile and juvenile Batten disease. (9151324)
1997
18
Bone marrow transplantation in late infantile Batten disease and juvenile Batten disease. (9151332)
1997
19
A form of juvenile Batten disease with granular osmiophilic deposits. (8971748)
1996
20
Morphological alterations in neocortical and cerebellar GABAergic neurons in a canine model of juvenile Batten disease. (7668331)
1995
21
Immunolocalization studies of subunit c in late-infantile and juvenile Batten disease. (8411976)
1993
22
Morphological approaches to the prenatal diagnosis of late-infantile and juvenile Batten disease. (8411995)
1993
23
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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Clinvar genetic disease variations for Juvenile Batten Disease:

7
id Gene Variation Type Significance SNP ID Assembly Location
1CLN3NM_000086.2(CLN3): c.371_372insT (p.Ser125Glnfs)insertionPathogenicGRCh37Chr 16, 28498985: 28498986

Expression for genes affiliated with Juvenile Batten Disease

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Search GEO for disease gene expression data for Juvenile Batten Disease.

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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Juvenile Batten Disease

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet