CLN1
MCID: NRN005
MIFTS: 69

Neuronal Ceroid-Lipofuscinoses (CLN1) malady

Neuronal diseases, Metabolic diseases categories

Summaries for Neuronal Ceroid-Lipofuscinoses

About this section
Sources:
21Genetics Home Reference, 46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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: Neuronal Ceroid-Lipofuscinoses, also known as infantile neuronal ceroid lipofuscinosis, is related to batten disease and lysosomal storage disease, and has symptoms including autosomal recessive inheritance, seizures/epilepsy/absences/spasms/status epilepticus and hemiplegia/diplegia/hemiparesia/limb palsy. An important gene associated with Neuronal Ceroid-Lipofuscinoses is PPT1 (palmitoyl-protein thioesterase 1), and among its related pathways is Lysosome. The compounds glycosphingolipid and cyanine have been mentioned in the context of this disorder. Affiliated tissues include brain, retina and testes, and related mouse phenotypes are mortality/aging and vision/eye.

Description from OMIM:46 256730,214200

GeneReviews summary for ncl

Aliases & Classifications for Neuronal Ceroid-Lipofuscinoses

About this section
Sources:
32MalaCards, 19GeneReviews, 30LifeMap Discovery™, 60UMLS, 22GTR, 42NIH Rare Diseases, 21Genetics Home Reference, 20GeneTests, 44Novoseek, 48Orphanet, 46OMIM, 26ICD10 via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet, 57SNOMED-CT via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
cln1 disease:
Inheritance: Autosomal recessive; Age of onset: Variable
infantile neuronal ceroid lipofuscinosis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

neuronal ceroid-lipofuscinoses 32 19 30 60
infantile neuronal ceroid lipofuscinosis 21 44 48 46
neuronal ceroid lipofuscinoses 42 20 44
neuronal ceroid-lipofuscinosis, infantile 32 22
santavuori-haltia disease 21 48
batten disease 19 42
ceroid lipofuscinosis, neuronal 3, juvenile 60
neuronal ceroid lipofuscinosis, infantile 21
ceroid lipofuscinosis, neuronal, 1 46
neuronal ceroid lipofuscinosis 1 21
hagberg-santavuori disease 48
infantile batten disease 21
santavuori disease 48
infantile ncl 48
cln1 disease 48
incl 48
cln1 21


External Ids:

ICD10 via Orphanet26 E75.4
UMLS via Orphanet61 C0268281, C2931673
MESH via Orphanet35 C537948
SNOMED-CT via Orphanet57 58258004

Related Diseases for Neuronal Ceroid-Lipofuscinoses

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 61)
idRelated DiseaseScoreTop Affiliating Genes
1batten disease31.2TPP1, CLN5, CTSD, PPT1, BAMBI, CLN3
2lysosomal storage disease30.6PSAP, CTSD, PPT1, CLN3, TPP1
3neuronal ceroid lipofuscinosis30.6CTSD, MFSD8, PPT1, CLN8, CLN6, CLN3
4dementia30.4PVALB, CLN5, SLC1A3
5prion disease30.0PVALB
6late-infantile neuronal ceroid lipofuscinosis29.9CTSD, PPT1, CLN8, CLN6, CLN3, CLN5
7neuronitis11.4
8juvenile batten disease10.5
9rett syndrome10.5
10ceroid lipofuscinosis neuronal 210.4
11chromosomal disease10.4
12cln4 disease10.4
13aspartylglucosaminuria10.3
14krabbe disease10.3
15autosomal recessive disease10.3
16retinal disease10.3
17retinitis10.3
18spinocerebellar ataxia10.3
19hermansky-pudlak syndrome10.3
20brain disease10.3
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
27northern epilepsy10.3
28ceroid lipofuscinosis neuronal 910.3
29ceroid storage disease10.3
30ceroid lipofuscinosis, neuronal, kufs type, adult onset10.3
31ceroid lipofuscinosis, neuronal, 4, parry type10.3
32epilepsy, progressive myoclonic 1a10.3
33ceroid lipofuscinosis neuronal 110.2
34central nervous system disease10.2
35cerebellar disease10.2
36nervous system disease10.2
37thalamic disease10.0
38cerebritis10.0
39fragile x syndrome10.0
40leukocyte disease10.0
41neuroblastoma10.0
42optic nerve disease10.0
43peroxisomal disease10.0
44pigmentation disease10.0
45rectal disease10.0
46skin disease10.0
47mitochondrial disorders10.0
48pneumonia10.0
49xeroderma pigmentosum10.0PSAP
50visual epilepsy10.0CLN6, TPP1

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



Diseases related to neuronal ceroid-lipofuscinoses

Clinical Features for Neuronal Ceroid-Lipofuscinoses

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

256730,214200

Clinical synopsis from OMIM:

214200

Symptoms:

48 (show all 14)
  • autosomal recessive inheritance
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • tics/stereotypias
  • myoclonus/fasciculations
  • eeg anomalies
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • absent/hypotonic/flaccid abdominal wall muscles
  • abnormal vep/visual evoked potential
  • abnormal erg/electroretinogram/electroretinography
  • visual loss/blindness/amblyopia
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • macular dystrophy/absence/hypoplasia of the macula
  • microcephaly

Drugs & Therapeutics for Neuronal Ceroid-Lipofuscinoses

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
See all sources

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

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Neuronal Ceroid-Lipofuscinoses:

32
Brain, Retina, Testes, Skin

Animal Models for Neuronal Ceroid-Lipofuscinoses or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Neuronal Ceroid-Lipofuscinoses:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.8CTSD, PPT1, DNAJC5, CLN8, CLN6, CLN3
2MP:00053917.1PSAP, 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

About this section
Sources:
50PubMed
See all sources

Articles related to Neuronal Ceroid-Lipofuscinoses:

(show top 50)    (show all 180)
idTitleAuthorsYear
1
The neuronal ceroid-lipofuscinoses: a historical introduction. (22959893)
2013
2
The neuronal ceroid-lipofuscinoses. (23798013)
2013
3
A rare dementing disease: adult neuronal ceroid lipofuscinoses. (23224458)
2012
4
Progressive myoclonus epilepsy: Unverricht-Lundborg disease and Neuronal ceroid lipofuscinoses (22787658)
2012
5
Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses. (22245569)
2012
6
A metabolomic comparison of mouse models of the Neuronal Ceroid Lipofuscinoses. (21461951)
2011
7
Treatment of lysosomal storage disorders: focus on the neuronal ceroid-lipofuscinoses. (18668166)
2008
8
Mechanisms of neurodegeneration in neuronal ceroid-lipofuscinoses. (16465529)
2006
9
Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins. (16839750)
2006
10
Neuronal ceroid lipofuscinoses (NCL). (17035052)
2006
11
Occurrence of and mortality from childhood neuronal ceroid lipofuscinoses in norway. (17092455)
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
Participation of autophagy in storage of lysosomes in neurons from mouse models of neuronal ceroid-lipofuscinoses (Batten disease). (16314482)
2005
14
Cathepsin deficiency as a model for neuronal ceroid lipofuscinoses. (16314462)
2005
15
Neuronal ceroid lipofuscinoses (NCL). (15253058)
2004
16
The intracellular location and function of proteins of neuronal ceroid lipofuscinoses. (14997940)
2004
17
Clinical features and molecular genetic basis of the neuronal ceroid lipofuscinoses. (11968447)
2002
18
Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2). (12125808)
2002
19
Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3. (12134079)
2002
20
Neuronal ceroid lipofuscinoses: classification and diagnosis. (11332767)
2001
21
Pheno/genotypic correlations of neuronal ceroid lipofuscinoses. (11548735)
2001
22
An Australasian diagnostic service for the neuronal ceroid lipofuscinoses. (11588997)
2001
23
Tripeptidyl-peptidase I in neuronal ceroid lipofuscinoses and other lysosomal storage disorders. (11589013)
2001
24
Cellular pathology and pathogenic aspects of neuronal ceroid lipofuscinoses. (11332776)
2001
25
Clinical and neuroradiological diagnostic aspects of neuronal ceroid lipofuscinoses disorders. (11588989)
2001
26
Electroencephalographic features in a series of patients with neuronal ceroid lipofuscinoses. (11073233)
2000
27
Developmental changes in the expression of neuronal ceroid lipofuscinoses-linked proteins. (11001810)
2000
28
Neuronal ceroid lipofuscinoses: a clinical and morphological study of 17 patients from southern Brazil. (10973097)
2000
29
The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland. (10191109)
1999
30
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. (10508524)
1999
31
Reevaluation of neuronal ceroid lipofuscinoses: atypical juvenile onset may be the result of CLN2 mutations. (10191110)
1999
32
Proceedings of the 7th International Congress on the Neuronal Ceroid-Lipofuscinoses: NCL-98. Dallas, Texas, USA. June 13-16, 1998. (10383230)
1999
33
Neuronal ceroid lipofuscinoses: a review. (10933446)
1998
34
7th International Congress on Neuronal Ceroid-Lipofuscinoses (NCL-98), 13-16 June 1998, Dallas, USA. (9804385)
1998
35
Neurophysiological findings in neuronal ceroid lipofuscinoses. (9151328)
1997
36
Gene table: neuronal ceroid lipofuscinoses (NCL). (10728217)
1997
37
Leukocytes in neuronal ceroid-lipofuscinoses: function and apoptosis. (9253483)
1997
38
Normal superoxide radical production in the neuronal ceroid-lipofuscinoses. (8892370)
1996
39
Classification of the neuronal ceroid-lipofuscinoses: expansion of the atypical forms. (7668320)
1995
40
Ceroid-lipofuscinoses, Batten disease and allied disorders. Proceedings of the 5th International Conference on Neuronal Ceroid-Lipofuscinoses. Staten Island, New York, May 19-21, 1994. (7668313)
1995
41
Rapid detection of subunit c of mitochondrial ATP synthase in urine as a diagnostic screening method for neuronal ceroid-lipofuscinoses. (7668339)
1995
42
Stargardt's disease is not allelic to the genes for neuronal ceroid lipofuscinoses. (8014971)
1994
43
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
44
Neuronal Ceroid-Lipofuscinoses (20301601)
1993
45
3rd International Conference on the Neuronal Ceroid Lipofuscinoses (Batten disease). Indianapolis, Indiana, May 30-June 1, 1990. (1351701)
1992
46
The neuronal ceroid lipofuscinoses: unfolding the genetic defect. (1663617)
1991
47
The neuronal ceroid lipofuscinoses. (2671115)
1989
48
Dolichol and dolichyl phosphate in the neuronal ceroid-lipofuscinoses and other diseases. (3146321)
1988
49
Neuronal ceroid-lipofuscinoses in childhood. (3291628)
1988
50
Involvement of sural nerve in neuronal ceroid-lipofuscinoses: report of two cases. (4349296)
1973

Genetic Variations for Neuronal Ceroid-Lipofuscinoses

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Neuronal Ceroid-Lipofuscinoses:

62 (show all 23)
id Symbol AA change Variation ID SNP ID
1PPT1p.His39GlnVAR_005548
2PPT1p.Gly42GluVAR_005549
3PPT1p.Thr75ProVAR_005550
4PPT1p.Asp79GlyVAR_005551
5PPT1p.Tyr109AspVAR_005552
6PPT1p.Arg122TrpVAR_005553rs137852695
7PPT1p.Gln177GluVAR_005555
8PPT1p.Val181LeuVAR_005556
9PPT1p.Val181MetVAR_005557
10PPT1p.Leu219GlnVAR_005558
11PPT1p.Tyr247HisVAR_005559
12PPT1p.Gly250ValVAR_005560
13PPT1p.Gly108ArgVAR_018511
14PPT1p.Trp38CysVAR_058434
15PPT1p.Cys45TyrVAR_066874
16PPT1p.Ser138LeuVAR_066875
17PPT1p.Cys152TyrVAR_066876
18PPT1p.His187ArgVAR_066877
19PPT1p.Pro189ArgVAR_066878
20PPT1p.Leu222ProVAR_066879
21PPT1p.Val228GlyVAR_066880
22PPT1p.Trp296ArgVAR_066881
23PPT1p.Leu305ProVAR_066882

Expression for genes affiliated with Neuronal Ceroid-Lipofuscinoses

About this section
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

About this section
Sources:
29KEGG
See all sources

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

About this section
Sources:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR
See all sources

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

(show all 13)
idCompoundScoreTop Affiliating Genes
1glycosphingolipid449.8PSAP, CTSD
2cyanine449.4PVALB, CALB2
3ceramide449.3CLN3, CTSD, PSAP
4mannose 6-phosphate44 2410.1TPP1, CLN3, PPT1, CTSD, PSAP
5silver449.0CTSD, CALB2, PVALB
6choline44 11 2410.9PSAP, CALB2, PVALB
7quinolinic acid44 249.8PVALB, CALB2
8gaba448.6SLC1A3, CALB2, PVALB
9aspartate448.5TPP1, SLC1A3, CTSD, PVALB
10cysteine448.5PSAP, CTSD, PPT1, DNAJC5, SLC1A3
11glutamate448.1PVALB, CALB2, CTSD, CLN3, SLC1A3
12atp44 288.7PVALB, PSAP, CTSD, PPT1, CLN3, SLC1A3
13serine447.7PVALB, PSAP, CTSD, PPT1, CLN3, SLC1A3

GO Terms for genes affiliated with Neuronal Ceroid-Lipofuscinoses

About this section
Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1synaptic vesicleGO:0080219.6CLN3, 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:0160217.2PSAP, 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:0458619.9CLN3, CLN8
2cellular protein catabolic processGO:0442579.9PPT1, CLN8
3associative learningGO:0083069.8CLN3, CLN8, PPT1
4lysosome organizationGO:0070409.7CLN8, CLN3, TPP1
5ceramide metabolic processGO:0066729.6CLN3, CLN8
6lysosomal lumen acidificationGO:0070429.6PPT1, CLN6, CLN3, CLN5
7negative regulation of neuron apoptotic processGO:0435249.5CLN3, DNAJC5, PPT1
8visual perceptionGO:0076019.5PPT1, CLN8, CLN6, CLN5
9neuromuscular process controlling balanceGO:0508859.2CLN8, CLN3, SLC1A3, TPP1
10protein catabolic processGO:0301639.0TPP1, PPT1, CLN8, CLN6, CLN3, CLN5
11cell deathGO:0082198.1CTSD, MFSD8, DNAJC5, CLN8, CLN6, CLN3

Products for genes affiliated with Neuronal Ceroid-Lipofuscinoses

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Neuronal Ceroid-Lipofuscinoses

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet