CLN1
MCID: NRN005
MIFTS: 52

Neuronal Ceroid-Lipofuscinoses (CLN1) malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Neuronal Ceroid-Lipofuscinoses

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Genetics Home Reference:21 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 based summary: Neuronal Ceroid-Lipofuscinoses, also known as neuronal ceroid-lipofuscinosis, infantile, is related to batten disease and northern epilepsy. An important gene associated with Neuronal Ceroid-Lipofuscinoses is PPT1 (palmitoyl-protein thioesterase 1), 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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Neuronal Ceroid-Lipofuscinoses, Aliases & Descriptions:

Name: Neuronal Ceroid-Lipofuscinoses 32 19 30 62
Neuronal Ceroid-Lipofuscinosis, Infantile 32 30 22
Infantile Neuronal Ceroid Lipofuscinosis 21 44 62
Neuronal Ceroid Lipofuscinoses 42 20 44
Batten Disease 19 42 62
 
Cln1 21 62
Neuronal Ceroid Lipofuscinosis, Infantile 21
Neuronal Ceroid Lipofuscinosis 1 21
Santavuori-Haltia Disease 21
Infantile Batten Disease 21


Classifications:

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


Related Diseases for Neuronal Ceroid-Lipofuscinoses

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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 54)
idRelated DiseaseScoreTop Affiliating Genes
1batten disease31.4CLN5, CLN3, TPP1, PPT1, CTSD
2northern epilepsy31.2CLN8
3lysosomal storage disease30.6CLN3, PPT1, CTSD, TPP1
4blindness30.6CLN3, CLN5, CLN6, TPP1, CLN8
5dementia30.3CLN5, SLC1A3, PVALB, GRN
6neuronal ceroid lipofuscinosis30.2CTSD, CLN5, CLN3, CLN8, TPP1, MFSD8
7late-infantile neuronal ceroid lipofuscinosis30.1TPP1, CLN3, CLN5, CLN8, CLN6, PPT1
8neuronitis11.5
9juvenile batten disease10.8
10ceroid lipofuscinosis neuronal 110.6
11rett syndrome10.6
12ceroid lipofuscinosis neuronal 210.5
13hematopoietic stem cell transplantation10.4
14krabbe disease10.4
15aspartylglucosaminuria10.4
16retinitis10.4
17spinocerebellar ataxia10.4
18precocious puberty10.4
19ataxia10.4
20fetal alcohol spectrum disorder10.4PVALB
21hermansky-pudlak syndrome10.3
22mucopolysaccharidosis10.3
23progressive myoclonus epilepsy10.3
24ceroid lipofuscinosis neuronal 1010.3
25ceroid lipofuscinosis neuronal 510.3
26ceroid lipofuscinosis neuronal 610.3
27ceroid lipofuscinosis neuronal 710.3
28ceroid lipofuscinosis neuronal 910.3
29ceroid storage disease10.3
30myoclonus epilepsy10.3
31myoclonus10.3
32ceroid lipofuscinosis, neuronal, kufs type, adult onset10.3
33epilepsy, progressive myoclonic 1a10.3
34visual epilepsy10.3CLN6, TPP1
35neonatal hypoxic and ischemic brain injury10.2PVALB, SLC1A3
36ganglioglioma10.2PVALB, CALB2
37renal clear cell carcinoma10.1CALB2, PVALB
38cataract10.0
39fragile x syndrome10.0
40cerebritis10.0
41neuroblastoma10.0
42adult neuronal ceroid lipofuscinosis10.0
43progressive myoclonic epilepsy 3 with or without intracellular inclusions10.0
44ceroid lipofuscinosis, neuronal, 13, kufs type10.0
45ceroid lipofuscinosis, neuronal, 1110.0
46ceroid lipofuscinosis, neuronal, 4, parry type10.0
47mental retardation10.0PPT1, SLC1A3, CLN8
48immunodeficiency with hyper igm type 210.0PVALB, CALB2, CTSD
49temporal lobe epilepsy10.0PVALB, SLC1A3
50motor neuron disease10.0PVALB, GRN, SLC1A3

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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Drug clinical trials:

Search ClinicalTrials for Neuronal Ceroid-Lipofuscinoses

Search NIH Clinical Center 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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Genetic tests related to Neuronal Ceroid-Lipofuscinoses:

id Genetic test Affiliating Genes
1 Neuronal Ceroid-Lipofuscinoses Multi-Gene Panels20
2 Neuronal Ceroid-Lipofuscinoses20 TPP1
3 Infantile Neuronal Ceroid Lipofuscinosis22

Anatomical Context for Neuronal Ceroid-Lipofuscinoses

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MalaCards organs/tissues related to Neuronal Ceroid-Lipofuscinoses:

32
Brain, Retina, Skin, Testes

Animal Models for Neuronal Ceroid-Lipofuscinoses or affiliated genes

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MGI Mouse Phenotypes related to Neuronal Ceroid-Lipofuscinoses:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.1PPT1, CLN8, CLN3, CLN5, CLN6, DNAJC5
2MP:00053768.1TPP1, CLN3, DNAJC5, GRN, CTSD, SLC1A3
3MP:00107687.2PPT1, TPP1, CLN8, CLN3, CLN6, DNAJC5
4MP:00053865.3CLN3, CLN8, TPP1, ATP13A2, PPT1, CLN6
5MP:00036315.1SLC1A3, PPT1, ATP13A2, TPP1, CLN8, CLN3

Publications for Neuronal Ceroid-Lipofuscinoses

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Articles related to Neuronal Ceroid-Lipofuscinoses:

(show top 50)    (show all 181)
idTitleAuthorsYear
1
Clinical, electrophysiological, imaging, and ultrastructural description in 68 patients with neuronal ceroid lipofuscinoses and its subtypes. (24120650)
2014
2
Deregulation of biometal homeostasis: the missing link for neuronal ceroid lipofuscinoses? (24804307)
2014
3
Classification and natural history of the neuronal ceroid lipofuscinoses. (23838030)
2013
4
The neuronal ceroid-lipofuscinoses: a historical introduction. (22959893)
2013
5
Juvenile neuronal ceroid lipofuscinoses. (22411240)
2012
6
New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. (22778232)
2012
7
A metabolomic comparison of mouse models of the Neuronal Ceroid Lipofuscinoses. (21461951)
2011
8
Mechanisms of neurodegeneration in neuronal ceroid-lipofuscinoses. (16465529)
2006
9
The neuronal ceroid-lipofuscinoses: from past to present. (16908122)
2006
10
Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins. (16839750)
2006
11
Neuronal ceroid lipofuscinoses therapeutic strategies: past, present and future. (17049436)
2006
12
Diagnosis of the neuronal ceroid lipofuscinoses: an update. (16930952)
2006
13
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
14
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. (15965709)
2005
15
Participation of autophagy in storage of lysosomes in neurons from mouse models of neuronal ceroid-lipofuscinoses (Batten disease). (16314482)
2005
16
Selectivity and types of cell death in the neuronal ceroid lipofuscinoses. (14997941)
2004
17
Hippocampal pathology in the human neuronal ceroid-lipofuscinoses: distinct patterns of storage deposition, neurodegeneration and glial activation. (15605981)
2004
18
Altered amino acid levels in sera of a mouse model for juvenile neuronal ceroid lipofuscinoses. (12763292)
2003
19
The neuronal ceroid-lipofuscinoses. (12528813)
2003
20
Mitochondrial dysfunction in the neuronal ceroid-lipofuscinoses (Batten disease). (11850114)
2002
21
The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease. (12025857)
2002
22
Clinical features and molecular genetic basis of the neuronal ceroid lipofuscinoses. (11968447)
2002
23
Neuronal ceroid lipofuscinoses: classification and diagnosis. (11332767)
2001
24
Biochemistry of neuronal ceroid lipofuscinoses. (11332778)
2001
25
Proceedings of the 8th International Congress on Neuronal Ceroid Lipofuscinoses (Batten Disease). Oxford, United Kingdom, September 2000. (11588977)
2001
26
Altered levels of high-energy phosphate compounds in fibroblasts from different forms of neuronal ceroid lipofuscinoses: further evidence for mitochondrial involvement. (11588986)
2001
27
Morphological aspects of the neuronal ceroid lipofuscinoses. (11073225)
2000
28
Neuronal ceroid lipofuscinoses in childhood. (11073226)
2000
29
Electroencephalographic features in a series of patients with neuronal ceroid lipofuscinoses. (11073233)
2000
30
Genetics of the neuronal ceroid lipofuscinoses. (10826995)
2000
31
Biochemical aspects of neuronal ceroid lipofuscinoses. (11073224)
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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Clinvar genetic disease variations for Neuronal Ceroid-Lipofuscinoses:

6
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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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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Pathways related to Neuronal Ceroid-Lipofuscinoses according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.5CTSD, CTSF, CLN5, CLN3, TPP1, MFSD8

Compounds for genes affiliated with Neuronal Ceroid-Lipofuscinoses

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Sources:
44Novoseek, 24HMDB, 28IUPHAR, 50PharmGKB, 11DrugBank
See all sources

Compounds related to Neuronal Ceroid-Lipofuscinoses according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1mannose 6-phosphate44 2410.7CTSD, CLN3, TPP1, PPT1
2cyanine449.4CALB2, PVALB
3quinolinic acid44 2410.2PVALB, CALB2
4silver449.0CTSD, CALB2, PVALB
5aspartate448.8SLC1A3, CTSD, PVALB, TPP1
6gaba448.8SLC1A3, CALB2, PVALB
7nmda44 289.7SLC1A3, CALB2, PVALB
8ethanol44 50 24 1111.5PVALB, CALB2, CTSD
9nitric oxide44 24 1110.4SLC1A3, CTSD, CALB2, PVALB
10atp44 289.4PPT1, TPP1, CLN3, PVALB, CTSD, SLC1A3
11cysteine448.4PPT1, DNAJC5, GRN, CTSF, CTSD, SLC1A3
12glutamate448.4CLN3, PVALB, CALB2, CTSD, SLC1A3
13serine448.3PPT1, TPP1, CLN3, PVALB, CTSD, SLC1A3

GO Terms for genes affiliated with Neuronal Ceroid-Lipofuscinoses

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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:0432029.3TPP1, CTSF, CTSD
4melanosomeGO:0424709.2TPP1, DNAJC5, CTSD
5lysosomal membraneGO:0057659.0DNAJC5, CLN3, MFSD8, ATP13A2, CLN5
6mitochondrionGO:0057398.4CTSD, TPP1, GRN, DNAJC5, CLN3, CLN8
7lysosomeGO:0057648.4CTSF, 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:04425710.1PPT1, CLN8
2ceramide metabolic processGO:00667210.0CLN3, CLN8
3associative learningGO:00830610.0PPT1, CLN8, CLN3
4neurotransmitter secretionGO:0072699.9DNAJC5, PPT1
5negative regulation of proteolysisGO:0458619.9CLN8, CLN3
6lysosome organizationGO:0070409.9TPP1, CLN8, CLN3
7lysosomal lumen acidificationGO:0070429.8PPT1, CLN3, CLN5, CLN6
8negative regulation of neuron apoptotic processGO:0435249.7DNAJC5, CLN3, PPT1
9visual perceptionGO:0076019.7CLN6, CLN5, CLN8, PPT1
10neuromuscular process controlling balanceGO:0508859.5SLC1A3, CLN3, CLN8, TPP1
11nervous system developmentGO:0073999.4CLN8, TPP1, PPT1
12protein catabolic processGO:0301639.2PPT1, TPP1, CLN8, CLN3, CLN5, CLN6
13cytosolic calcium ion homeostasisGO:0514809.1CALB2, PVALB, CLN3
14cell deathGO:0082196.5CTSD, ATP13A2, MFSD8, KCTD7, TPP1, CLN8

Products for genes affiliated with Neuronal Ceroid-Lipofuscinoses

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  • Antibodies
  • Proteins
  • Lysates

Sources for Neuronal Ceroid-Lipofuscinoses

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet