NCL
MCID: NRN021
MIFTS: 56

Neuronal Ceroid Lipofuscinosis (NCL) malady

Neuronal, Eye, Metabolic categories

Summaries for Neuronal Ceroid Lipofuscinosis

Sources:
44NINDS, 64Wikipedia, 47OMIM, 33MalaCards
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NINDS:44 Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Symptoms of Batten disease are linked to a buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. Because vision loss is often an early sign, Batten disease may be first suspected during an eye exam. Often, an eye specialist or other physician may refer the child to a neurologist. Diagnostic tests for Batten disease include blood or urine tests, skin or tissue sampling, an electroencephalogram (EEG), electrical studies of the eyes, and brain scans.

MalaCards: Neuronal Ceroid Lipofuscinosis, also known as hereditary ceroid lipofuscinosis, is related to infantile neuronal ceroid lipofuscinosis and late-infantile neuronal ceroid lipofuscinosis, and has symptoms including retinal vascular anomalies/retinal telangiectasia, retinal albinism and visual loss/blindness/amblyopia. An important gene associated with Neuronal Ceroid Lipofuscinosis is CLN3 (ceroid-lipofuscinosis, neuronal 3), and among its related pathways is Lysosome. The compounds glycosphingolipid and mannose 6-phosphate have been mentioned in the context of this disorder. Related mouse phenotypes are mortality/aging and behavior/neurological.

Wikipedia:64 Neuronal ceroid lipofuscinoses (NCL) is the general name for a family of at least eight genetically... more...

Description from OMIM:47 204200, 600143, 610951, 601780, 256730 610003, 256731, 204300, 204500 more

Aliases & Classifications for Neuronal Ceroid Lipofuscinosis

Sources:
8Disease Ontology, 22GTR, 44NINDS, 10DISEASES, 49Orphanet, 61UMLS, 35MeSH, 47OMIM, 57SNOMED-CT, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
neuronal ceroid lipofuscinosis:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

neuronal ceroid lipofuscinosis 8 22 44 10 49
hereditary ceroid lipofuscinosis 8
neuronal ceroid-lipofuscinoses 61
ncl 49


External Ids:

Disease Ontology8 DOID:14503
MeSH35 D009472
NCIt40 C61257
SNOMED-CT57 42012007
MESH via Orphanet36 D009472
ICD10 via Orphanet26 E75.4
SNOMED-CT via Orphanet58 42012007
UMLS via Orphanet62 C0027877

Related Diseases for Neuronal Ceroid Lipofuscinosis

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the ceroid lipofuscinosis neuronal 2 family:

neuronal ceroid lipofuscinosis ceroid lipofuscinosis neuronal 1
adult neuronal ceroid lipofuscinosis ceroid lipofuscinosis neuronal 10
ceroid lipofuscinosis neuronal 5 ceroid lipofuscinosis neuronal 6
ceroid lipofuscinosis neuronal 7 ceroid lipofuscinosis neuronal 9
congenital neuronal ceroid lipofuscinosis ceroid lipofuscinosis, neuronal, 12
ceroid lipofuscinosis, neuronal, 11

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

(show top 50)    (show all 94)
idRelated DiseaseScoreTop Affiliating Genes
1infantile neuronal ceroid lipofuscinosis32.2PPT2, PPT1
2late-infantile neuronal ceroid lipofuscinosis32.0CLN3, CLN5, TPP1, CLN6, CLN8, PPT1
3batten disease31.7CLN5, BAMBI, PPT1, CTSD, CLN3, TPP1
4neuronal ceroid-lipofuscinoses30.4CLN8, CLN3, CLN6, PPT1, MFSD8, CTSD
5lip disease11.2
6adult neuronal ceroid lipofuscinosis11.1
7juvenile batten disease11.0
8congenital neuronal ceroid lipofuscinosis10.9
9ceroid lipofuscinosis neuronal 110.8
10protein c deficiency10.8
11northern epilepsy10.7
12ceroid lipofuscinosis neuronal 1010.7
13ceroid lipofuscinosis neuronal 210.7
14ceroid storage disease10.7
15n syndrome10.6
16ceroid lipofuscinosis neuronal 610.6
17spielmeyer-vogt disease10.6
18brain disease10.5
19autosomal dominant neuronal ceroid lipofuscinosis 4b10.5
20ceroid lipofuscinosis neuronal 510.5
21ceroid lipofuscinosis neuronal 710.5
22ceroid lipofuscinosis, neuronal, 1110.5
23rett syndrome10.4
24retinitis pigmentosa10.4
25neuroaxonal dystrophy10.4
26congenital tracheal stenosis10.4
27progressive myoclonic epilepsy 3 with or without intracellular inclusions10.4
28ceroid lipofuscinosis, neuronal, 13, kufs type10.4
29ceroid lipofuscinosis, neuronal, kufs type, adult onset10.4
30stargardt disease10.3
31mucopolysaccharidosis i10.3
32hermansky-pudlak syndrome10.3
33myoclonus epilepsy10.3
34myoclonus10.3
35epilepsy, progressive myoclonic 1a10.3
36corneal disease10.3
37acute pancreatitis10.3
38usher syndrome10.3
39aspartylglucosaminuria10.3
40krabbe disease10.3
41hyperandrogenism10.3
42hypertrophic cardiomyopathy10.3
43neuroleptic malignant syndrome10.3
44apraxia10.3
45autosomal dominant disease10.3
46autosomal recessive disease10.3
47spinocerebellar ataxia10.3
48t cell deficiency10.3
49parkinson disease type 910.3
50cerebellar degeneration10.3

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



Diseases related to neuronal ceroid lipofuscinosis

Clinical Features for Neuronal Ceroid Lipofuscinosis

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

204200,600143,610951,601780,256730,610003,256731,204300,204500

Symptoms:

49 (show all 17)
  • retinal vascular anomalies/retinal telangiectasia
  • retinal albinism
  • visual loss/blindness/amblyopia
  • abnormal erg/electroretinogram/electroretinography
  • eeg anomalies
  • hypotonia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance
  • anomalies of eyes and vision
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • movement disorder
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • psychic/psychomotor regression/dementia/intellectual decline
  • metabolic anomalies
  • ataxia/incoordination/trouble of the equilibrium
  • psychic/behavioural troubles

Drugs & Therapeutics for Neuronal Ceroid Lipofuscinosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Neuronal Ceroid Lipofuscinosis

Drug clinical trials:

Search ClinicalTrials for Neuronal Ceroid Lipofuscinosis

Search NIH Clinical Center for Neuronal Ceroid Lipofuscinosis

Search CenterWatch for Neuronal Ceroid Lipofuscinosis

Genetic Tests for Neuronal Ceroid Lipofuscinosis

Sources:
22GTR
See all sources

Genetic tests related to Neuronal Ceroid Lipofuscinosis:

id Genetic test Affiliating Genes
1 Neuronal Ceroid Lipofuscinosis22

Anatomical Context for Neuronal Ceroid Lipofuscinosis

Animal Models for Neuronal Ceroid Lipofuscinosis or affiliated genes

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

MGI Mouse Phenotypes related to Neuronal Ceroid Lipofuscinosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:001076810.3CLN6, CLN8, DNAJC5, PPT1, POU4F1, PPT2
2MP:000538610.2TPP1, CLN6, CLN8, DNAJC5, POU4F1, BAMBI
3MP:000363110.1CLN5, CLN3, CLN6, CLN8, PSAP, DNAJC5
4MP:000539110.0CTSD, PPT1, POU4F1, PSAP, CLN6, CLN3

Publications for Neuronal Ceroid Lipofuscinosis

Sources:
51PubMed
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Articles related to Neuronal Ceroid Lipofuscinosis:

(show top 50)    (show all 521)
idTitleAuthorsYear
1
Hippocampal volumes in juvenile neuronal ceroid lipofuscinosis: a longitudinal magnetic resonance imaging study. (24411222)
2014
2
Cell biology and function of neuronal ceroid lipofuscinosis-related proteins. (23402926)
2013
3
Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease). (23747979)
2013
4
CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family. (23180398)
2013
5
Assessment of disease severity in late infantile neuronal ceroid lipofuscinosis using multiparametric MR imaging. (23042927)
2013
6
The blood-brain barrier is disrupted in a mouse model of infantile neuronal ceroid lipofuscinosis: amelioration by resveratrol. (22331300)
2012
7
Mutational analysis of the feline CLN3 gene and an ultrastructural evaluation of lysosomal storage materials in a cat with neuronal ceroid lipofuscinosis: an investigation into the molecular basis of the disease. (22627044)
2012
8
A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis. (20820830)
2011
9
Intrathecal tripeptidyl-peptidase 1 reduces lysosomal storage in a canine model of late infantile neuronal ceroid lipofuscinosis. (21784683)
2011
10
Current therapies for the soluble lysosomal forms of neuronal ceroid lipofuscinosis. (21118112)
2010
11
A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund. (20494602)
2010
12
A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis. (20679209)
2010
13
Genetic modifiers of degeneration in the cathepsin D deficient Drosophila model for neuronal ceroid lipofuscinosis. (19761846)
2009
14
Gene symbol: TPP1. Disease: Neuronal Ceroid Lipofuscinosis, late infantile. (20960655)
2008
15
Dipeptidyl-peptidase I does not functionally compensate for the loss of tripeptidyl-peptidase I in the neurodegenerative disease late-infantile neuronal ceroid lipofuscinosis. (18570628)
2008
16
Synaptic changes in the thalamocortical system of cathepsin D-deficient mice: a model of human congenital neuronal ceroid-lipofuscinosis. (18091563)
2008
17
Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis. (18362923)
2008
18
Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, Finnish Variant. (20960661)
2008
19
A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c.571+1G>A) leading to excision of exon 3. (17988881)
2008
20
Imaging of late infantile neuronal ceroid lipofuscinosis: a clinical rating scale. (17679667)
2007
21
Radiation hybrid mapping of three candidate genes for bovine Neuronal Ceroid Lipofuscinosis: CLN3, CLN5 and CLN6. (16974076)
2006
22
Adult-onset neuronal ceroid lipofuscinosis type B in an African-American. (15726574)
2005
23
Gene symbol: CLN3. Disease: juvenile neuronal ceroid lipofuscinosis (Batten disease). (15818814)
2005
24
Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells. (15160397)
2004
25
Neuronal ceroid-lipofuscinosis and hydrocephalus in a chihuahua. (12779175)
2003
26
Neuroleptic malignant syndrome in juvenile neuronal ceroid lipofuscinosis associated with low-dose risperidone therapy. (14605508)
2003
27
Enlarged SI and SII somatosensory evoked responses in the CLN5 form of neuronal ceroid lipofuscinosis. (12169332)
2002
28
Charting the effects of antioxidant therapy in the diseased brain: focus on "vitamin E deficiency and metabolic deficits in neuronal ceroid lipofuscinosis described by bioinformatics". (12464692)
2002
29
First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis. (11241534)
2001
30
Northern epilepsy: a novel form of neuronal ceroid-lipofuscinosis. (10764041)
2000
31
Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis. (10649502)
2000
32
Progress toward positional cloning of ovine neuronal ceroid lipofuscinosis, a model of the human late-infantile variant CLN6. (10191131)
1999
33
Anomalies of mitochondrial ATP synthase regulation in four different types of neuronal ceroid lipofuscinosis. (10191128)
1999
34
Tripeptidyl-peptidase I is apparently the CLN2 protein absent in classical late-infantile neuronal ceroid lipofuscinosis. (9989235)
1999
35
Palmitoyl-protein thioesterase gene expression in the developing mouse brain and retina: implications for early loss of vision in infantile neuronal ceroid lipofuscinosis. (10231585)
1999
36
Angulate lysosomes in skin biopsies of patients with degenerative neurological disorders: high frequency in neuronal ceroid lipofuscinosis. (10412805)
1999
37
A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient. (9571187)
1998
38
Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis. (9653647)
1998
39
Atypical late infantile and juvenile forms of neuronal ceroid lipofuscinosis and their diagnostic difficulties. (9377079)
1997
40
Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23. (9097964)
1997
41
Lamotrigine therapy in infantile neuronal ceroid lipofuscinosis (INCL). (9151331)
1997
42
EEG and evoked potentials in infantile neuronal ceroid-lipofuscinosis. (9285436)
1997
43
Decreased activity of the mitochondrial ATP-synthase in fibroblasts from children with late-infantile and juvenile neuronal ceroid lipofuscinosis. (8739947)
1996
44
6th International Congress on Neuronal-Ceroid-Lipofuscinosis (NCL-96), June 8-11, 1996, Gustavelund, Finland. (8944322)
1996
45
Evidence that lysosomal storage of proteolipids is a cell autonomous process in the motor neuron degeneration (mnd) mouse, a model of neuronal ceroid lipofuscinosis. (8971792)
1996
46
Neuronal ceroid lipofuscinosis in the Polish Owczarek Nizinny (PON) dog. A retinal study. (8861635)
1995
47
Erythrocyte membrane reacylation in juvenile neuronal ceroid-lipofuscinosis: measurement of membrane-bound carnitine palmitoyl transferase, acyl-CoA synthetase, and lysophospholipid: acyl-CoA acyltransferase activities. (7668351)
1995
48
Human forms of neuronal ceroid-lipofuscinosis (Batten disease): consensus on diagnostic criteria, Hamburg 1992. (8411970)
1993
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 Neuronal Ceroid Lipofuscinosis

Expression for genes affiliated with Neuronal Ceroid Lipofuscinosis

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

Search GEO for disease gene expression data for Neuronal Ceroid Lipofuscinosis.

Pathways for genes affiliated with Neuronal Ceroid Lipofuscinosis

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3TPP1, CLN5, CLN3, PPT1, PPT2, MFSD8

Compounds for genes affiliated with Neuronal Ceroid Lipofuscinosis

Sources:
45Novoseek, 24HMDB, 29IUPHAR
See all sources

Compounds related to Neuronal Ceroid Lipofuscinosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glycosphingolipid4510.4PSAP, CTSD
2mannose 6-phosphate45 2411.4PPT1, PSAP, CTSD, CLN3, TPP1
3atp45 2911.3TPP1, PSAP, CTSD, PPT1, ATP5E, CLN3
4palmitate4510.1PPT1, DNAJC5, PPT2

GO Terms for genes affiliated with Neuronal Ceroid Lipofuscinosis

Sources:
16Gene Ontology
See all sources

Cellular components related to Neuronal Ceroid Lipofuscinosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1synaptic vesicleGO:00802110.4CLN3, DNAJC5, PPT1
2lysosomeGO:00576410.4TPP1, CTSD, PPT2, PPT1, ATP13A2, RILP
3neuron projectionGO:04300510.4NMB, CLN3, POU4F1
4lysosomal membraneGO:00576510.4PSAP, MFSD8, ATP13A2, DNAJC5, RILP, CLN3
5lysosomal lumenGO:04320210.3PSAP, CTSD, TPP1
6melanosomeGO:04247010.1TPP1, DNAJC5, CTSD

Biological processes related to Neuronal Ceroid Lipofuscinosis according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1lysosomal lumen acidificationGO:00704210.6CLN5, CLN3, PPT1, CLN6
2associative learningGO:00830610.6PPT1, CLN8, CLN3
3protein catabolic processGO:03016310.6TPP1, CLN5, CLN3, CLN6, PPT1, CLN8
4negative regulation of neuron apoptotic processGO:04352410.6CLN3, PPT1, POU4F1, DNAJC5
5cell deathGO:00821910.5CLN3, TPP1, CLN6, CLN8, DNAJC5, MFSD8
6lysosome organizationGO:00704010.5CLN8, CLN3, TPP1
7neuromuscular process controlling balanceGO:05088510.5TPP1, CLN3, CLN8
8negative regulation of proteolysisGO:04586110.4CLN3, CLN8
9visual perceptionGO:00760110.4CLN5, CLN6, CLN8, PPT1
10cellular protein catabolic processGO:04425710.3CLN8, PPT1
11ceramide metabolic processGO:00667210.1CLN3, CLN8

Molecular functions related to Neuronal Ceroid Lipofuscinosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1palmitoyl-(protein) hydrolase activityGO:00847410.4PPT1, PPT2

Products for genes affiliated with Neuronal Ceroid Lipofuscinosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Neuronal Ceroid Lipofuscinosis

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