MCID: JVN022
MIFTS: 21

Juvenile Batten Disease malady

Neuronal category

Summaries for Juvenile Batten Disease

Sources:
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 spielmeyer-vogt disease and batten disease. An important gene associated with Juvenile Batten Disease is CLN3 (ceroid-lipofuscinosis, neuronal 3). Affiliated tissues include bone marrow, brain and skin.

Aliases & Classifications for Juvenile Batten Disease

Sources:
21Genetics Home Reference, 61UMLS
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Classifications:

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


Aliases & Descriptions:

juvenile batten disease 21
ceroid lipofuscinosis, neuronal 3, juvenile 61
cln3-related neuronal ceroid-lipofuscinosis 21
juvenile neuronal ceroid lipofuscinosis 21
juvenile neuronal ceroid lipfuscinosis 61
juvenile cerebroretinal degeneration 21
batten-spielmeyer-vogt disease 21
spielmeyer-vogt disease 21
batten-mayou disease 21


Related Diseases for Juvenile Batten Disease

Sources:
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:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1spielmeyer-vogt disease10.9
2batten disease10.9
3infantile neuronal ceroid lipofuscinosis10.7
4late-infantile neuronal ceroid lipofuscinosis10.6
5ceroid lipofuscinosis neuronal 110.5
6corneal disease10.5
7neuronal ceroid-lipofuscinoses10.4
8cln4 disease10.4
9hypertrophic cardiomyopathy10.4
10neuroleptic malignant syndrome10.4
11ceroid storage disease10.4
12ceroid lipofuscinosis, neuronal, 1110.4
13lip disease10.4

Graphical network of diseases related to Juvenile Batten Disease:



Diseases related to juvenile batten disease

Clinical Features for Juvenile Batten Disease

Drugs & Therapeutics for Juvenile Batten Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Juvenile Batten Disease

Drug clinical trials:

Search ClinicalTrials for Juvenile Batten Disease

Search NIH Clinical Center for Juvenile Batten Disease

Search CenterWatch for Juvenile Batten Disease

Genetic Tests for Juvenile Batten Disease

Anatomical Context for Juvenile Batten Disease

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

33
Bone marrow, Brain, Skin

Animal Models for Juvenile Batten Disease or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Juvenile Batten Disease

Sources:
51PubMed
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Articles related to Juvenile Batten Disease:

(show all 50)
idTitleAuthorsYear
1
Do females with juvenile ceroid lipofuscinosis (Batten disease) have a more severe disease course? The Danish experience. (23177590)
2013
2
Neurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (Batten disease). (24014508)
2013
3
Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate. (23588842)
2013
4
The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking. (22545070)
2012
5
Age-dependent therapeutic effect of memantine in a mouse model of juvenile Batten disease. (22683643)
2012
6
Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data. (21556831)
2011
7
Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease). (21464428)
2011
8
Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease). (22013180)
2011
9
Immunosuppression alters disease severity in juvenile Batten disease mice. (20937531)
2011
10
Temporary inhibition of AMPA receptors induces a prolonged improvement of motor performance in a mouse model of juvenile Batten disease. (20971125)
2011
11
Dissimilar neuropsychiatric presentations of two siblings with juvenile neuronal ceroid lipofuscinosis (Batten disease). (20160229)
2010
12
Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease). (20187884)
2010
13
Altered arginine metabolism in the central nervous system (CNS) of the Cln3-/- mouse model of juvenile Batten disease. (19284480)
2009
14
Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathways. (19028667)
2009
15
Moving towards therapies for juvenile Batten disease? (18400221)
2008
16
Identification of alpha-fetoprotein as an autoantigen in juvenile Batten disease. (17931875)
2008
17
Attenuation of AMPA receptor activity improves motor skills in a mouse model of juvenile Batten disease. (17963751)
2008
18
Absence of Btn1p in the yeast model for juvenile Batten disease may cause arginine to become toxic to yeast cells. (17341489)
2007
19
Neuropsychological symptoms of juvenile-onset batten disease: experiences from 2 studies. (17690071)
2007
20
Progressive oxidative damage in the central nervous system of a murine model for juvenile Batten disease. (17638298)
2007
21
Juvenile neuronal ceroid-lipofuscinosis (Batten disease): a brief review and update. (17896996)
2007
22
Defective lysosomal arginine transport in juvenile Batten disease. (16251196)
2005
23
Gene symbol: CLN3. Disease: Juvenile neuronal ceroid lipofuscinosis (Batten disease). (15991331)
2005
24
Cell death pathways in juvenile Batten disease. (16151633)
2005
25
Gene symbol: CLN3. Disease: juvenile neuronal ceroid lipofuscinosis (Batten disease). (15818814)
2005
26
Juvenile neuronal ceroid lipofuscinosis (Batten disease) CLN3 mutation (Chrom 16p11.2) with different phenotypes in a sibling pair and low intensity in vivo autofluorescence. (15162299)
2004
27
Altered flurothyl seizure induction latency, phenotype, and subsequent mortality in a mouse model of juvenile neuronal ceroid lipofuscinosis/batten disease. (12366726)
2002
28
Retinal pathology and function in a Cln3 knockout mouse model of juvenile Neuronal Ceroid Lipofuscinosis (batten disease). (11988019)
2002
29
A yeast model for classical juvenile Batten disease (CLN3). (11588983)
2001
30
Ceroid lipofuscinosis, neuronal 3, Juvenile-Batten disease: case report and literature review. (12363260)
2001
31
A disrupted homologue of the human CLN3 or juvenile neuronal ceroid lipofuscinosis gene in Saccharomyces cerevisiae: a model to study Batten disease. (10384264)
1999
32
A mouse gene knockout model for juvenile ceroid-lipofuscinosis (Batten disease). (10440905)
1999
33
The subcellular location of the yeast Saccharomyces cerevisiae homologue of the protein defective in the juvenile form of Batten disease. (9753630)
1998
34
Light and electron microscopic studies on subunit c in cultured fibroblasts in late infantile and juvenile Batten disease. (9151324)
1997
35
Batten disease in the west of Scotland 1974-1995 including five cases of the juvenile form with granular osmiophilic deposits. (9266550)
1997
36
Bone marrow transplantation in late infantile Batten disease and juvenile Batten disease. (9151332)
1997
37
A form of juvenile Batten disease with granular osmiophilic deposits. (8971748)
1996
38
Carrier detection of Batten disease (juvenile neuronal ceroid-lipofuscinosis). (7668358)
1995
39
Mitochondrial damage results in a reversible increase in lysosomal storage material in lymphoblasts from patients with juvenile neuronal ceroid-lipofuscinosis (Batten Disease). (7668350)
1995
40
Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease). (7887420)
1995
41
Morphological alterations in neocortical and cerebellar GABAergic neurons in a canine model of juvenile Batten disease. (7668331)
1995
42
Translocation 10;18 in a patient with juvenile neuronal ceroid-lipofuscinosis (Batten disease). (7668324)
1995
43
Immunolocalization studies of subunit c in late-infantile and juvenile Batten disease. (8411976)
1993
44
Morphological approaches to the prenatal diagnosis of late-infantile and juvenile Batten disease. (8411995)
1993
45
Abnormal lysosomal cathepsin activities in leukocytes and cultured skin fibroblasts in late infantile, but not in juvenile neuronal ceroid-lipofuscinosis (Batten disease). (1638746)
1992
46
Ceroid lipofuscinosis in the border collie dog: retinal lesions in an animal model of juvenile Batten disease. (1319117)
1992
47
Decreased erythrocyte and platelet phospholipids and fatty acids in juvenile neuronal ceroid-lipofuscinosis (Batten disease). (2290481)
1990
48
Lectin histochemistry in brains with juvenile form of neuronal ceroid-lipofuscinosis (Batten disease). (2399809)
1990
49
Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16. (2249854)
1990
50
Therapeutic modification of membrane lipid abnormalities in juvenile neuronal ceroid-lipofuscinosis (Batten disease). (3146326)
1988

Genetic Variations for Juvenile Batten Disease

Expression for genes affiliated with Juvenile Batten Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Juvenile Batten Disease

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

Pathways for genes affiliated with Juvenile Batten Disease

Compounds for genes affiliated with Juvenile Batten Disease

GO Terms for genes affiliated with Juvenile Batten Disease

Products for genes affiliated with Juvenile Batten Disease

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Sources for Juvenile 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