MCID: NRN005
MIFTS: 38

Neuronal Ceroid-Lipofuscinoses malady

Neuronal category

Summaries for Neuronal Ceroid-Lipofuscinoses

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19GeneReviews, 33MalaCards
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MalaCards: Neuronal Ceroid-Lipofuscinoses, also known as neuronal ceroid lipofuscinoses, is related to batten disease and late-infantile neuronal ceroid lipofuscinosis. An important gene associated with Neuronal Ceroid-Lipofuscinoses is CLN5 (ceroid-lipofuscinosis, neuronal 5), and among its related pathways is Lysosome. The compounds glycosphingolipid and cyanine have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and retina, and related mouse phenotypes are mortality/aging and vision/eye.

GeneReviews summary for ncl

Aliases & Classifications for Neuronal Ceroid-Lipofuscinoses

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 45Novoseek, 31LifeMap Discovery™, 61UMLS
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Classifications:

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


Aliases & Descriptions:

neuronal ceroid-lipofuscinoses 19 31 61
neuronal ceroid lipofuscinoses 43 20 45
batten disease 19 43
ceroid lipofuscinosis, neuronal 3, juvenile 61


Related Diseases for Neuronal Ceroid-Lipofuscinoses

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Neuronal Ceroid-Lipofuscinoses via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1batten disease31.3TPP1, CLN5, CLN3, BAMBI, PPT1, CTSD
2late-infantile neuronal ceroid lipofuscinosis30.6CLN5, CLN6, CLN8, PPT1, CTSD, CLN3
3lip disease11.0
4juvenile batten disease11.0
5infantile neuronal ceroid lipofuscinosis10.6
6ceroid storage disease10.6
7n syndrome10.5
8ceroid lipofuscinosis neuronal 210.5
9cln4 disease10.4
10stargardt disease10.3
11mucopolysaccharidosis i10.3
12hermansky-pudlak syndrome10.3
13brain disease10.3
14ceroid lipofuscinosis neuronal 510.3
15ceroid lipofuscinosis neuronal 610.3
16ceroid lipofuscinosis neuronal 710.3
17northern epilepsy10.3
18myoclonus epilepsy10.3
19myoclonus10.3
20ceroid lipofuscinosis, neuronal, kufs type, adult onset10.3
21ceroid lipofuscinosis, neuronal, 4, parry type10.3
22epilepsy, progressive myoclonic 1a10.3
23spielmeyer-vogt disease10.3
24ceroid lipofuscinosis neuronal 110.2
25thalamic disease10.1
26mitochondrial disorders10.1
27xeroderma pigmentosum10.0PSAP
28prion disease10.0PVALB
29visual epilepsy10.0CLN6, TPP1
30malignant pleural mesothelioma10.0CALB2
31retinal degeneration10.0CLN3
32fetal alcohol spectrum disorder10.0PVALB
33neonatal hypoxic and ischemic brain injury10.0SLC1A3, PVALB
34dementia10.0PVALB, CLN5, SLC1A3
35blindness10.0TPP1, CLN8, CLN6, CLN3, CLN5
36lysosomal storage disease10.0CLN3, PSAP, CTSD, PPT1, TPP1
37immunodeficiency with hyper igm type 210.0CALB2, PVALB, CTSD
38amyotrophic lateral sclerosis10.0PVALB, CALB2, SLC1A3
39epilepsy syndrome10.0CLN5, CLN8, CALB2, PVALB, PPT1
40neuronal ceroid lipofuscinosis10.0TPP1, CLN5, CLN6, CLN8, PPT1, MFSD8

Graphical network of the top 20 diseases related to Neuronal Ceroid-Lipofuscinoses:



Diseases related to neuronal ceroid-lipofuscinoses

Clinical Features for Neuronal Ceroid-Lipofuscinoses

Drugs & Therapeutics for Neuronal Ceroid-Lipofuscinoses

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

Search CenterWatch for Neuronal Ceroid-Lipofuscinoses

Drug clinical trials:

Search ClinicalTrials for Neuronal Ceroid-Lipofuscinoses

Search NIH Clinical Center for Neuronal Ceroid-Lipofuscinoses

Search CenterWatch for Neuronal Ceroid-Lipofuscinoses

Genetic Tests for Neuronal Ceroid-Lipofuscinoses

Sources:
20GeneTests
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Genetic tests related to Neuronal Ceroid-Lipofuscinoses:

id Genetic test Affiliating Genes
1 Neuronal Ceroid-lipofuscinoses Multi-gene Panels20
2 Neuronal Ceroid-lipofuscinoses20 TPP1

Anatomical Context for Neuronal Ceroid-Lipofuscinoses

Sources:
33MalaCards
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MalaCards organs/tissues related to Neuronal Ceroid-Lipofuscinoses:

33
Skin, Brain, Retina, B cells

Animal Models for Neuronal Ceroid-Lipofuscinoses or affiliated genes

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

MGI Mouse Phenotypes related to Neuronal Ceroid-Lipofuscinoses:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.8CTSD, PPT1, DNAJC5, CLN8, CLN6, CLN3
2MP:00053917.0PSAP, CTSD, PPT1, DNAJC5, CLN8, CLN6
3MP:00036315.6PPT1, CTSD, PSAP, CALB2, PVALB, DNAJC5
4MP:00053865.3TPP1, PVALB, CALB2, PSAP, CTSD, PPT1

Publications for Neuronal Ceroid-Lipofuscinoses

Sources:
51PubMed
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Articles related to Neuronal Ceroid-Lipofuscinoses:

(show top 50)    (show all 180)
idTitleAuthorsYear
1
The neuronal ceroid-lipofuscinoses: a historical introduction. (22959893)
2013
2
Bioinformatic perspectives in the neuronal ceroid lipofuscinoses. (23274885)
2013
3
Mouse models of neuronal ceroid lipofuscinoses: useful pre-clinical tools to delineate disease pathophysiology and validate therapeutics. (22502604)
2012
4
Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses. (22245569)
2012
5
Funduscopic and angiographic appearance in the neuronal ceroid lipofuscinoses. (19289983)
2009
6
Neuronal ceroid lipofuscinoses. (19084560)
2009
7
Neuropeptide changes and neuroactive amino acids in CSF from humans and sheep with neuronal ceroid lipofuscinoses (NCLs, Batten disease). (19664668)
2009
8
Treatment of lysosomal storage disorders: focus on the neuronal ceroid-lipofuscinoses. (18668166)
2008
9
Mechanisms of neurodegeneration in neuronal ceroid-lipofuscinoses. (16465529)
2006
10
The neuronal ceroid-lipofuscinoses: from past to present. (16908122)
2006
11
Palmitoyl Protein Thioesterase1 (PPT1) and Tripeptidyl Peptidase-I (TPP-I) are expressed in the human saliva. A reliable and non-invasive source for the diagnosis of infantile (CLN1) and late infantile (CLN2) neuronal ceroid lipofuscinoses. (15820783)
2005
12
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. (15965709)
2005
13
The genetic spectrum of human neuronal ceroid-lipofuscinoses. (14997939)
2004
14
The intracellular location and function of proteins of neuronal ceroid lipofuscinoses. (14997940)
2004
15
Altered amino acid levels in sera of a mouse model for juvenile neuronal ceroid lipofuscinoses. (12763292)
2003
16
Gene table: neuronal ceroid lipofuscinoses. (11995961)
2002
17
Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2). (12125808)
2002
18
Pheno/genotypic correlations of neuronal ceroid lipofuscinoses. (11548735)
2001
19
Neuronal ceroid lipofuscinoses. (11585111)
2001
20
Cellular pathology and pathogenic aspects of neuronal ceroid lipofuscinoses. (11332776)
2001
21
Clinical and neuroradiological diagnostic aspects of neuronal ceroid lipofuscinoses disorders. (11588989)
2001
22
Genetics of the neuronal ceroid lipofuscinoses. (10826995)
2000
23
A pathophysiological study of neuronal ceroid lipofuscinoses in 17 patients: critical review and methodological proposal. (11073234)
2000
24
The new nosography of the neuronal ceroid-lipofuscinoses. (11084415)
2000
25
Seventh international congress on the neuronal ceroid-lipofuscinoses: NCL-98 (10191105)
1999
26
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. (10508524)
1999
27
The neuronal ceroid-lipofuscinoses (Batten disease): a new class of lysosomal storage diseases. (10407785)
1999
28
The neuronal ceroid-lipofuscinoses. Recent advances. (9458173)
1998
29
Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland. (9733046)
1998
30
Neuronal ceroid lipofuscinoses: a review. (10933446)
1998
31
Workshop on the genetic and molecular basis of the neuronal ceroid lipofuscinoses. London, UK, 13-16 November 1997. Report and abstracts. (10724106)
1998
32
The dystrophic retina in multisystem disorders: the electroretinogram in neuronal ceroid lipofuscinoses. (9775220)
1998
33
Neurophysiological findings in neuronal ceroid lipofuscinoses. (9151328)
1997
34
Magnetic resonance techniques in neuronal ceroid lipofuscinoses and some other lysosomal diseases affecting the brain. (9425568)
1997
35
Proceedings of the 6th International Congress on Neuronal Ceroid Lipofuscinoses. Gustavelund, Finland, 8-11 June 1996. (9265113)
1997
36
DNA diagnosis and identification of carriers of infantile and juvenile neuronal ceroid lipofuscinoses. (9151326)
1997
37
Sphingolipid activator proteins (SAPs) in neuronal ceroid lipofuscinoses (NCL). (9151322)
1997
38
Brain lysosomal hydrolases in neuronal ceroid-lipofuscinoses. (8971694)
1996
39
The neuronal ceroid-lipofuscinoses. (8969009)
1996
40
Classification of the neuronal ceroid-lipofuscinoses: expansion of the atypical forms. (7668320)
1995
41
Immunological studies on sphingolipid activator proteins in the neuronal ceroid-lipofuscinoses. (8821335)
1995
42
The neuronal ceroid-lipofuscinoses (Batten disease): comparative aspects. (7770121)
1995
43
Neuronal Ceroid-Lipofuscinoses (20301601)
1993
44
Psychological symptoms and sleep disturbances in neuronal ceroid-lipofuscinoses (NCL). (8411971)
1993
45
Neurology of the neuronal ceroid-lipofuscinoses: late infantile and juvenile types. (1609833)
1992
46
Topographic heterogeneity of amyloid B-protein epitopes in brains with various forms of neuronal ceroid lipofuscinoses suggesting defective processing of amyloid precursor protein. (1694383)
1990
47
Clinico-pathological variability in the childhood neuronal ceroid-lipofuscinoses and new observations on glycoprotein abnormalities. (3146325)
1988
48
Superoxide dismutase isoenzymes in cerebrospinal fluid and plasma from patients with neuronal ceroid-lipofuscinoses. (3709075)
1986
49
Isoelectric enzyme patterns of leukocyte peroxidase in normal controls and patients with neuronal ceroid-lipofuscinoses. (989162)
1976
50
Significance of muscle biopsies in neuronal ceroid-lipofuscinoses. (172609)
1975

Genetic Variations for Neuronal Ceroid-Lipofuscinoses

Expression for genes affiliated with Neuronal Ceroid-Lipofuscinoses

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Neuronal Ceroid-Lipofuscinoses

Search GEO for disease gene expression data for Neuronal Ceroid-Lipofuscinoses.

Pathways for genes affiliated with Neuronal Ceroid-Lipofuscinoses

Sources:
30KEGG
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Pathways related to Neuronal Ceroid-Lipofuscinoses according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.2TPP1, CLN5, CLN3, PPT1, MFSD8, CTSD

Compounds for genes affiliated with Neuronal Ceroid-Lipofuscinoses

Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR
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Compounds related to Neuronal Ceroid-Lipofuscinoses according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1glycosphingolipid459.8PSAP, CTSD
2cyanine459.4PVALB, CALB2
3ceramide459.3CLN3, CTSD, PSAP
4mannose 6-phosphate45 2410.0TPP1, CLN3, PPT1, CTSD, PSAP
5silver459.0CTSD, CALB2, PVALB
6choline45 11 2410.9PSAP, CALB2, PVALB
7quinolinic acid45 249.8PVALB, CALB2
8gaba458.6SLC1A3, CALB2, PVALB
9aspartate458.5TPP1, SLC1A3, CTSD, PVALB
10cysteine458.4PSAP, CTSD, PPT1, DNAJC5, SLC1A3
11glutamate458.1PVALB, CALB2, CTSD, CLN3, SLC1A3
12atp45 298.7PVALB, PSAP, CTSD, PPT1, CLN3, SLC1A3
13serine457.6PVALB, PSAP, CTSD, PPT1, CLN3, SLC1A3

GO Terms for genes affiliated with Neuronal Ceroid-Lipofuscinoses

Sources:
16Gene Ontology
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Cellular components related to Neuronal Ceroid-Lipofuscinoses according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1synaptic vesicleGO:0080219.5CLN3, DNAJC5, PPT1
2endoplasmic reticulumGO:0057839.4CLN5, CLN3, CLN6, CLN8
3lysosomal lumenGO:0432029.3PSAP, CTSD, TPP1
4melanosomeGO:0424709.2TPP1, DNAJC5, CTSD
5lysosomeGO:0057649.1TPP1, CLN5, CLN3, PPT1, CTSD
6lysosomal membraneGO:0057658.9PSAP, MFSD8, DNAJC5, CLN3, CLN5
7integral to membraneGO:0160217.3PSAP, MFSD8, BAMBI, CLN8, CLN6, CLN3

Biological processes related to Neuronal Ceroid-Lipofuscinoses according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of proteolysisGO:04586110.0CLN3, CLN8
2cellular protein catabolic processGO:0442579.8PPT1, CLN8
3associative learningGO:0083069.8CLN3, CLN8, PPT1
4lysosome organizationGO:0070409.7CLN8, CLN3, TPP1
5ceramide metabolic processGO:0066729.7CLN3, CLN8
6lysosomal lumen acidificationGO:0070429.6PPT1, CLN6, CLN3, CLN5
7visual perceptionGO:0076019.4PPT1, CLN8, CLN6, CLN5
8negative regulation of neuron apoptotic processGO:0435249.4CLN3, DNAJC5, PPT1
9neuromuscular process controlling balanceGO:0508859.3CLN8, CLN3, SLC1A3, TPP1
10protein catabolic processGO:0301639.0TPP1, PPT1, CLN8, CLN6, CLN3, CLN5
11cell deathGO:0082198.2CTSD, MFSD8, DNAJC5, CLN8, CLN6, CLN3

Products for genes affiliated with Neuronal Ceroid-Lipofuscinoses

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Neuronal Ceroid-Lipofuscinoses

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