CLN1
MCID: NRN005
MIFTS: 50

Neuronal Ceroid-Lipofuscinoses (CLN1) malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Neuronal Ceroid-Lipofuscinoses

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22Genetics Home Reference, 20GeneReviews, 34MalaCards
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Genetics Home Reference:22 Infantile neuronal ceroid lipofuscinosis (NCL) is an inherited disorder that primarily affects the nervous system. Beginning in infancy, children with this condition have intellectual and motor disability, rarely developing the ability to speak or walk. Affected children often have muscle twitches (myoclonus), recurrent seizures (epilepsy), or vision impairment. An unusually small head (microcephaly) and progressive loss of nerve cells in the brain are also characteristic features of this disorder. Children with infantile NCL usually do not survive past childhood.

MalaCards: Neuronal Ceroid-Lipofuscinoses, also known as neuronal ceroid lipofuscinoses, is related to batten disease and northern epilepsy. An important gene associated with Neuronal Ceroid-Lipofuscinoses is CLN5 (ceroid-lipofuscinosis, neuronal 5), and among its related pathways is Lysosome. The compounds mannose 6-phosphate and cyanine have been mentioned in the context of this disorder. Affiliated tissues include brain, retina and skin, and related mouse phenotypes are vision/eye and homeostasis/metabolism.

GeneReviews summary for ncl

Aliases & Classifications for Neuronal Ceroid-Lipofuscinoses

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34MalaCards, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 46Novoseek, 32LifeMap Discoveryā„¢, 63UMLS
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Classifications:

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


Aliases & Descriptions:

neuronal ceroid-lipofuscinoses 34 20 32 63
neuronal ceroid lipofuscinoses 44 21 46
neuronal ceroid-lipofuscinosis, infantile 34 23
infantile neuronal ceroid lipofuscinosis 22 46
batten disease 20 44
ceroid lipofuscinosis, neuronal 3, juvenile 63
neuronal ceroid lipofuscinosis, infantile 22
neuronal ceroid lipofuscinosis 1 22
santavuori-haltia disease 22
infantile batten disease 22
cln1 22


Related Diseases for Neuronal Ceroid-Lipofuscinoses

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18GeneCards, 19GeneDecks
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Diseases related to Neuronal Ceroid-Lipofuscinoses via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1batten disease31.4CLN5, CLN3, TPP1, PPT1, CTSD
2northern epilepsy30.6CLN8
3neuronal ceroid lipofuscinosis30.6CTSD, CLN5, CLN3, CLN8, TPP1, MFSD8
4lysosomal storage disease30.5CLN3, PPT1, CTSD, TPP1
5blindness30.5CLN3, CLN5, CLN6, TPP1, CLN8
6dementia30.4CLN5, SLC1A3, PVALB, GRN
7late-infantile neuronal ceroid lipofuscinosis30.3TPP1, CLN3, CLN5, CLN8, CLN6, PPT1
8neuronitis11.4
9juvenile batten disease10.8
10ceroid lipofuscinosis neuronal 110.6
11rett syndrome10.5
12ceroid lipofuscinosis neuronal 210.5
13krabbe disease10.4
14aspartylglucosaminuria10.4
15retinitis10.4
16spinocerebellar ataxia10.4
17precocious puberty10.4
18ataxia10.4
19hematopoietic stem cell transplantation10.4
20hermansky-pudlak syndrome10.3
21mucopolysaccharidosis10.3
22progressive myoclonus epilepsy10.3
23ceroid lipofuscinosis neuronal 1010.3
24ceroid lipofuscinosis neuronal 510.3
25ceroid lipofuscinosis neuronal 610.3
26ceroid lipofuscinosis neuronal 710.3
27ceroid lipofuscinosis neuronal 910.3
28ceroid storage disease10.3
29myoclonus epilepsy10.3
30myoclonus10.3
31ceroid lipofuscinosis, neuronal, kufs type, adult onset10.3
32epilepsy, progressive myoclonic 1a10.3
33fetal alcohol spectrum disorder10.1PVALB
34visual epilepsy10.1CLN6, TPP1
35neonatal hypoxic and ischemic brain injury10.0PVALB, SLC1A3
36cerebritis10.0
37fragile x syndrome10.0
38neuroblastoma10.0
39ganglioglioma10.0PVALB, CALB2
40renal clear cell carcinoma10.0CALB2, PVALB
41mental retardation10.0PPT1, SLC1A3, CLN8
42immunodeficiency with hyper igm type 210.0PVALB, CALB2, CTSD
43temporal lobe epilepsy10.0PVALB, SLC1A3
44motor neuron disease10.0PVALB, GRN, SLC1A3
45prion disease10.0CALB2, PVALB, CLN5, SLC1A3
46epilepsy syndrome10.0PPT1, CLN8, CLN5, PVALB, CALB2
47adult neuronal ceroid lipofuscinosis10.0
48progressive myoclonic epilepsy 3 with or without intracellular inclusions10.0
49ceroid lipofuscinosis, neuronal, 13, kufs type10.0
50ceroid lipofuscinosis, neuronal, 1110.0

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



Diseases related to neuronal ceroid-lipofuscinoses

Symptoms for Neuronal Ceroid-Lipofuscinoses

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Drugs & Therapeutics for Neuronal Ceroid-Lipofuscinoses

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 32LifeMap Discoveryā„¢, 63UMLS, 42NDF-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

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Neuronal Ceroid-Lipofuscinoses cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Neuronal Ceroid-Lipofuscinoses:
HuCNS-SC
Embryonic/Adult Cultured Cells Related to Neuronal Ceroid-Lipofuscinoses:
Human neural stem cells (HuCNS-SC, PMID: 16610769

Genetic Tests for Neuronal Ceroid-Lipofuscinoses

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21GeneTests, 23GTR
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Genetic tests related to Neuronal Ceroid-Lipofuscinoses:

id Genetic test Affiliating Genes
1 Neuronal Ceroid-Lipofuscinoses Multi-Gene Panels21
2 Neuronal Ceroid-Lipofuscinoses21 TPP1
3 Infantile Neuronal Ceroid Lipofuscinosis23

Anatomical Context for Neuronal Ceroid-Lipofuscinoses

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34MalaCards
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MalaCards organs/tissues related to Neuronal Ceroid-Lipofuscinoses:

34
Brain, Retina, Skin, Testes

Animal Models for Neuronal Ceroid-Lipofuscinoses or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Neuronal Ceroid-Lipofuscinoses:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.1PPT1, CLN8, CLN3, CLN5, CLN6, DNAJC5
2MP:00053768.0TPP1, CLN3, DNAJC5, GRN, CTSD, SLC1A3
3MP:00107687.2PPT1, TPP1, CLN8, CLN3, CLN6, DNAJC5
4MP:00053865.2CLN3, CLN8, TPP1, ATP13A2, PPT1, CLN6
5MP:00036315.1SLC1A3, PPT1, ATP13A2, TPP1, CLN8, CLN3

Publications for Neuronal Ceroid-Lipofuscinoses

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53PubMed
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Articles related to Neuronal Ceroid-Lipofuscinoses:

(show top 50)    (show all 179)
idTitleAuthorsYear
1
Clinical, electrophysiological, imaging, and ultrastructural description in 68 patients with neuronal ceroid lipofuscinoses and its subtypes. (24120650)
2014
2
Classification and natural history of the neuronal ceroid lipofuscinoses. (23838030)
2013
3
The neuronal ceroid-lipofuscinoses: a historical introduction. (22959893)
2013
4
Juvenile neuronal ceroid lipofuscinoses. (22411240)
2012
5
New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. (22778232)
2012
6
A metabolomic comparison of mouse models of the Neuronal Ceroid Lipofuscinoses. (21461951)
2011
7
Mechanisms of neurodegeneration in neuronal ceroid-lipofuscinoses. (16465529)
2006
8
The neuronal ceroid-lipofuscinoses: from past to present. (16908122)
2006
9
Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins. (16839750)
2006
10
Neuronal ceroid lipofuscinoses therapeutic strategies: past, present and future. (17049436)
2006
11
Diagnosis of the neuronal ceroid lipofuscinoses: an update. (16930952)
2006
12
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
13
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. (15965709)
2005
14
Participation of autophagy in storage of lysosomes in neurons from mouse models of neuronal ceroid-lipofuscinoses (Batten disease). (16314482)
2005
15
Selectivity and types of cell death in the neuronal ceroid lipofuscinoses. (14997941)
2004
16
Hippocampal pathology in the human neuronal ceroid-lipofuscinoses: distinct patterns of storage deposition, neurodegeneration and glial activation. (15605981)
2004
17
Altered amino acid levels in sera of a mouse model for juvenile neuronal ceroid lipofuscinoses. (12763292)
2003
18
The neuronal ceroid-lipofuscinoses. (12528813)
2003
19
Mitochondrial dysfunction in the neuronal ceroid-lipofuscinoses (Batten disease). (11850114)
2002
20
The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease. (12025857)
2002
21
Clinical features and molecular genetic basis of the neuronal ceroid lipofuscinoses. (11968447)
2002
22
Neuronal ceroid lipofuscinoses: classification and diagnosis. (11332767)
2001
23
Biochemistry of neuronal ceroid lipofuscinoses. (11332778)
2001
24
Proceedings of the 8th International Congress on Neuronal Ceroid Lipofuscinoses (Batten Disease). Oxford, United Kingdom, September 2000. (11588977)
2001
25
Altered levels of high-energy phosphate compounds in fibroblasts from different forms of neuronal ceroid lipofuscinoses: further evidence for mitochondrial involvement. (11588986)
2001
26
Morphological aspects of the neuronal ceroid lipofuscinoses. (11073225)
2000
27
Neuronal ceroid lipofuscinoses in childhood. (11073226)
2000
28
Electroencephalographic features in a series of patients with neuronal ceroid lipofuscinoses. (11073233)
2000
29
Genetics of the neuronal ceroid lipofuscinoses. (10826995)
2000
30
Biochemical aspects of neuronal ceroid lipofuscinoses. (11073224)
2000
31
Developmental changes in the expression of neuronal ceroid lipofuscinoses-linked proteins. (11001810)
2000
32
The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland. (10191109)
1999
33
Seventh international congress on the neuronal ceroid-lipofuscinoses: NCL-98 (10191105)
1999
34
The neuronal ceroid-lipofuscinoses. Recent advances. (9458173)
1998
35
Incidence of neuronal perikaryal spheroids in neuronal ceroid lipofuscinoses (Batten disease). (9707331)
1998
36
Neurophysiological findings in neuronal ceroid lipofuscinoses. (9151328)
1997
37
Classification of the neuronal ceroid-lipofuscinoses: expansion of the atypical forms. (7668320)
1995
38
Comparative biology of the neuronal ceroid-lipofuscinoses (NCL): an overview. (7668352)
1995
39
Immunological studies on sphingolipid activator proteins in the neuronal ceroid-lipofuscinoses. (8821335)
1995
40
Increased expression of subunit c of mitochondrial ATP synthase in brain tissue from neuronal ceroid lipofuscinoses and mucopolysaccharidosis cases but not in long-term fibroblast cultures. (8152585)
1993
41
Neuronal Ceroid-Lipofuscinoses (20301601)
1993
42
Proceedings of the 4th International Symposium on the Neuronal Ceroid-lipofuscinoses (Batten disease). Hamburg, Germany, 11-13 June 1992. (8105141)
1993
43
Neurology of the neuronal ceroid-lipofuscinoses: late infantile and juvenile types. (1609833)
1992
44
The neuronal ceroid lipofuscinoses. (2671115)
1989
45
Reconsideration of the classification of the neuronal ceroid-lipofuscinoses. (3146331)
1988
46
Bleomycin-detectable iron and phenanthroline-detectable copper in the cerebrospinal fluid of patients with neuronal ceroid-lipofuscinoses. (2464355)
1988
47
Dolichol and dolichyl phosphate in the neuronal ceroid-lipofuscinoses and other diseases. (3146321)
1988
48
Significance of muscle biopsies in neuronal ceroid-lipofuscinoses. (172609)
1975
49
Involvement of the skin in late infantile and juvenile amaurotic idiocies (neuronal ceroid-lipofuscinoses). (4457780)
1974
50
The neuronal ceroid-lipofuscinoses--Batten-Vogt syndrome: a model for human aging? (4329200)
1971

Variations for Neuronal Ceroid-Lipofuscinoses

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Neuronal Ceroid-Lipofuscinoses:

1
id Gene Name Type Significance SNP ID Assembly Location
1PPT1NM_000310.3(PPT1): c.364A> T (p.Arg122Trp)single nucleotide variantPathogenicrs137852695GRCh37Chr 1, 40557070: 40557070
2PPT1NM_000310.3(PPT1): c.223A> C (p.Thr75Pro)single nucleotide variantPathogenicrs137852696GRCh37Chr 1, 40558081: 40558081
3PPT1NM_000310.3(PPT1): c.236A> G (p.Asp79Gly)single nucleotide variantPathogenicrs137852697GRCh37Chr 1, 40557843: 40557843
4PPT1NM_000310.3(PPT1): c.656T> A (p.Leu219Gln)single nucleotide variantPathogenicrs137852698GRCh37Chr 1, 40544302: 40544302
5PPT1NM_000310.3(PPT1): c.29T> A (p.Leu10Ter)single nucleotide variantPathogenicrs137852699GRCh37Chr 1, 40562882: 40562882
6PPT1NM_000310.3(PPT1): c.451C> T (p.Arg151Ter)single nucleotide variantPathogenicrs137852700GRCh37Chr 1, 40555167: 40555167
7PPT1NM_000310.3(PPT1): c.322G> C (p.Gly108Arg)single nucleotide variantPathogenicrs137852701GRCh37Chr 1, 40557757: 40557757
8PPT1NM_000310.3(PPT1): c.134G> A (p.Cys45Tyr)single nucleotide variantPathogenicrs137852702GRCh37Chr 1, 40558170: 40558170

Expression for genes affiliated with Neuronal Ceroid-Lipofuscinoses

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2BioGPS, 16Gene Expression Omnibus DataSets
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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

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51PathCards, 31KEGG
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Pathways related to Neuronal Ceroid-Lipofuscinoses according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.4CTSD, CTSF, CLN5, CLN3, TPP1, MFSD8

Compounds for genes affiliated with Neuronal Ceroid-Lipofuscinoses

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46Novoseek, 25HMDB, 30IUPHAR, 52PharmGKB, 12DrugBank
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Compounds related to Neuronal Ceroid-Lipofuscinoses according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1mannose 6-phosphate46 2510.6CTSD, CLN3, TPP1, PPT1
2cyanine469.4CALB2, PVALB
3quinolinic acid46 2510.2PVALB, CALB2
4silver469.0CTSD, CALB2, PVALB
5aspartate468.8SLC1A3, CTSD, PVALB, TPP1
6gaba468.8SLC1A3, CALB2, PVALB
7nmda46 309.7SLC1A3, CALB2, PVALB
8ethanol46 52 25 1211.5PVALB, CALB2, CTSD
9nitric oxide46 25 1210.4SLC1A3, CTSD, CALB2, PVALB
10atp46 309.4PPT1, TPP1, CLN3, PVALB, CTSD, SLC1A3
11glutamate468.4CLN3, PVALB, CALB2, CTSD, SLC1A3
12cysteine468.3PPT1, DNAJC5, GRN, CTSF, CTSD, SLC1A3
13serine468.3PPT1, TPP1, CLN3, PVALB, CTSD, SLC1A3

GO Terms for genes affiliated with Neuronal Ceroid-Lipofuscinoses

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17Gene Ontology
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Cellular components related to Neuronal Ceroid-Lipofuscinoses according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1synaptic vesicleGO:0080219.7DNAJC5, CLN3, PPT1
2endoplasmic reticulumGO:0057839.5CLN6, CLN5, CLN8, CLN3
3lysosomal lumenGO:0432029.4TPP1, CTSF, CTSD
4melanosomeGO:0424709.2TPP1, DNAJC5, CTSD
5lysosomal membraneGO:0057659.0DNAJC5, CLN3, MFSD8, ATP13A2, CLN5
6mitochondrionGO:0057398.4CTSD, TPP1, GRN, DNAJC5, CLN3, CLN8
7lysosomeGO:0057648.3CTSF, PPT1, ATP13A2, TPP1, CLN3, CTSD

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1cellular protein catabolic processGO:04425710.0PPT1, CLN8
2ceramide metabolic processGO:00667210.0CLN3, CLN8
3associative learningGO:0083069.9CLN8, PPT1, CLN3
4negative regulation of proteolysisGO:0458619.9CLN3, CLN8
5lysosome organizationGO:0070409.9TPP1, CLN8, CLN3
6neurotransmitter secretionGO:0072699.8PPT1, DNAJC5
7lysosomal lumen acidificationGO:0070429.7CLN6, CLN5, PPT1, CLN3
8negative regulation of neuron apoptotic processGO:0435249.7PPT1, CLN3, DNAJC5
9visual perceptionGO:0076019.6CLN6, CLN5, CLN8, PPT1
10neuromuscular process controlling balanceGO:0508859.6SLC1A3, CLN3, TPP1, CLN8
11nervous system developmentGO:0073999.4CLN8, TPP1, PPT1
12protein catabolic processGO:0301639.2CLN6, CLN3, CLN8, TPP1, PPT1, CLN5
13cytosolic calcium ion homeostasisGO:0514809.1CALB2, PVALB, CLN3
14cell deathGO:0082196.6CTSD, CTSF, GRN, DNAJC5, CLN6, CLN5

Products for genes affiliated with Neuronal Ceroid-Lipofuscinoses

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  • Antibodies
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  • Lysates
  • Antibodies

Sources for Neuronal Ceroid-Lipofuscinoses

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet