NCL
MCID: NRN021
MIFTS: 66

Neuronal Ceroid Lipofuscinosis (NCL) malady

Neuronal diseases, Eye diseases, Metabolic diseases categories

Summaries for Neuronal Ceroid Lipofuscinosis

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43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
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NINDS:43 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 batten disease and neuronal ceroid-lipofuscinoses, and has symptoms including psychic/behavioural troubles, ataxia/incoordination/trouble of the equilibrium and retinal albinism. 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. Affiliated tissues include eye, brain and testes, and related mouse phenotypes are mortality/aging and behavior/neurological.

Wikipedia:63 Neuronal ceroid lipofuscinoses (NCL) is the general name for a family of at least eight genetically... more...

Description from OMIM:46 204200, 600143, 610951, 601780, 256730 610003, 256731, 204300, 204500 more

Aliases & Classifications for Neuronal Ceroid Lipofuscinosis

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Sources:
60UMLS, 8Disease Ontology, 22GTR, 43NINDS, 10DISEASES, 48Orphanet, 34MeSH, 46OMIM, 56SNOMED-CT, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
neuronal ceroid lipofuscinosis:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

neuronal ceroid lipofuscinosis 8 22 43 10 48
hereditary ceroid lipofuscinosis 8
neuronal ceroid-lipofuscinoses 60
ncl 48


External Ids:

Disease Ontology8 DOID:14503
MeSH34 D009472
NCIt39 C61257
SNOMED-CT56 42012007
MESH via Orphanet35 D009472
ICD10 via Orphanet26 E75.4
SNOMED-CT via Orphanet57 42012007
UMLS via Orphanet61 C0027877

Related Diseases for Neuronal Ceroid Lipofuscinosis

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Sources:
17GeneCards, 18GeneDecks
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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 114)
idRelated DiseaseScoreTop Affiliating Genes
1batten disease31.6TPP1, CLN5, CLN3, BAMBI, PPT1, CTSD
2neuronal ceroid-lipofuscinoses31.3PPT2, PPT1
3late-infantile neuronal ceroid lipofuscinosis31.0CTSD, TPP1, CLN5, CLN3, CLN6, CLN8
4lysosomal storage disease30.9PSAP, CTSD, PPT1, CLN3, TPP1
5dementia30.3CLN5
6neuronitis11.6
7adult neuronal ceroid lipofuscinosis10.8
8congenital neuronal ceroid lipofuscinosis10.8
9retinitis10.8
10ceroid lipofuscinosis neuronal 1010.7
11northern epilepsy10.7
12ceroid lipofuscinosis neuronal 210.7
13chromosomal disease10.5
14ceroid lipofuscinosis neuronal 510.5
15ceroid lipofuscinosis neuronal 610.5
16brain disease10.5
17retinal degeneration10.5
18autosomal dominant neuronal ceroid lipofuscinosis 4b10.5
19ceroid lipofuscinosis neuronal 710.5
20ceroid lipofuscinosis neuronal 910.5
21ceroid lipofuscinosis, neuronal, 13, kufs type10.5
22ceroid lipofuscinosis, neuronal, 4, parry type10.5
23rett syndrome10.4
24gangliosidosis gm110.4
25cerebritis10.4
26retinitis pigmentosa10.4
27neuroaxonal dystrophy10.4
28gangliosidosis10.4
29retinal disease10.4
30congenital disorders of n-linked glycosylation pathway10.4
31parkinson disease type 910.4
32progressive myoclonic epilepsy 3 with or without intracellular inclusions10.4
33juvenile batten disease10.4
34ceroid lipofuscinosis, neuronal, kufs type, adult onset10.4
35ceroid lipofuscinosis, neuronal, 1110.4
36hermansky-pudlak syndrome10.3
37mucopolysaccharidosis10.3
38progressive myoclonus epilepsy10.3
39ceroid storage disease10.3
40epilepsy, progressive myoclonic 1a10.3
41corneal disease10.2
42acute pancreatitis10.2
43usher syndrome10.2
44aspartylglucosaminuria10.2
45krabbe disease10.2
46hyperandrogenism10.2
47hypertrophic cardiomyopathy10.2
48neuroleptic malignant syndrome10.2
49apraxia10.2
50autosomal dominant disease10.2

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



Diseases related to neuronal ceroid lipofuscinosis

Clinical Features for Neuronal Ceroid Lipofuscinosis

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

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

Symptoms:

48 (show all 17)
  • psychic/behavioural troubles
  • ataxia/incoordination/trouble of the equilibrium
  • 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
  • retinal vascular anomalies/retinal telangiectasia

Drugs & Therapeutics for Neuronal Ceroid Lipofuscinosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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Sources:
22GTR
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Genetic tests related to Neuronal Ceroid Lipofuscinosis:

id Genetic test Affiliating Genes
1 Neuronal Ceroid Lipofuscinosis22

Anatomical Context for Neuronal Ceroid Lipofuscinosis

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32MalaCards
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MalaCards organs/tissues related to Neuronal Ceroid Lipofuscinosis:

32
Eye, Brain, Testes, Skin, Liver, Kidney, Spleen, Pons, Bone, Bone marrow, Cortex, Retina, Cerebellum, Heart, Thalamus, Hypothalamus

Animal Models for Neuronal Ceroid Lipofuscinosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Neuronal Ceroid Lipofuscinosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:001076810.3CTSD, PPT2, PPT1, POU4F1, DNAJC5, CLN8
2MP:000538610.2TPP1, PSAP, CTSD, PPT2, PPT1, ATP13A2
3MP:000363110.1ATP13A2, PPT1, PPT2, CTSD, PSAP, POU4F1
4MP:000539110.0PSAP, CTSD, PPT1, POU4F1, DNAJC5, CLN8

Publications for Neuronal Ceroid Lipofuscinosis

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Sources:
50PubMed
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Articles related to Neuronal Ceroid Lipofuscinosis:

(show top 50)    (show all 519)
idTitleAuthorsYear
1
Identifying protein partners of CLN8, an ER-resident protein involved in neuronal ceroid lipofuscinosis. (23142642)
2013
2
Considerations for the treatment of infantile neuronal ceroid lipofuscinosis (infantile Batten disease). (24014510)
2013
3
Immune cells perturb axons and impair neuronal survival in a mouse model of infantile neuronal ceroid lipofuscinosis. (23485853)
2013
4
A novel c.1135_1138delCTGT mutation in CLN3 leads to juvenile neuronal ceroid lipofuscinosis. (23877479)
2013
5
Central nervous system stem cell transplantation for children with neuronal ceroid lipofuscinosis. (23581634)
2013
6
Freezing of gait - First motor manifestation in late infantile variant neuronal ceroid lipofuscinosis. (24188967)
2013
7
Neuronal ceroid lipofuscinosis in a mallard duck (Anas platyrhynchos). (22645836)
2012
8
Combination small molecule PPT1 mimetic and CNS-directed gene therapy as a treatment for infantile neuronal ceroid lipofuscinosis. (22310926)
2012
9
Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease). (21464428)
2011
10
The role of attenuated astrocyte activation in infantile neuronal ceroid lipofuscinosis. (22031903)
2011
11
Large-volume intrathecal enzyme delivery increases survival of a mouse model of late infantile neuronal ceroid lipofuscinosis. (21730969)
2011
12
The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. (20052765)
2010
13
Gene therapy for late infantile neuronal ceroid lipofuscinosis: neurosurgical considerations. (20672930)
2010
14
Human recombinant palmitoyl-protein thioesterase-1 (PPT1) for preclinical evaluation of enzyme replacement therapy for infantile neuronal ceroid lipofuscinosis. (20036592)
2010
15
A critical tryptophan and Ca2+ in activation and catalysis of TPPI, the enzyme deficient in classic late-infantile neuronal ceroid lipofuscinosis. (20689811)
2010
16
Children with infantile neuronal ceroid lipofuscinosis have an increased risk of hypothermia and bradycardia during anesthesia. (19608805)
2009
17
Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis. (18343701)
2008
18
Alterations in striatal dopamine catabolism precede loss of substantia nigra neurons in a mouse model of juvenile neuronal ceroid lipofuscinosis. (17617387)
2007
19
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. (17564970)
2007
20
Overexpression in colorectal carcinoma of two lysosomal enzymes, CLN2 and CLN1, involved in neuronal ceroid lipofuscinosis. (16518810)
2006
21
Standardized assessment of behavior and adaptive living skills in juvenile neuronal ceroid lipofuscinosis. (16542512)
2006
22
Genotype-phenotype analyses of classic neuronal ceroid lipofuscinosis (NCLs): genetic predictions from clinical and pathological findings. (16415965)
2006
23
Neuronal ceroid lipofuscinosis in a Vietnamese pot-bellied pig (Sus scrofa). (16847000)
2006
24
Magnetic resonance imaging of neuronal ceroid lipofuscinosis in a border collie. (15585966)
2004
25
Adeno-associated virus 2-mediated gene therapy decreases autofluorescent storage material and increases brain mass in a murine model of infantile neuronal ceroid lipofuscinosis. (15193292)
2004
26
The lysosomal degradation of neuromedin B is dependent on tripeptidyl peptidase-I: evidence for the impairment of neuropeptide degradation in late-infantile neuronal ceroid lipofuscinosis. (15158442)
2004
27
Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency. (14655761)
2003
28
Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis. (12815591)
2003
29
A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis. (12382155)
2002
30
The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein. (11727201)
2002
31
Distribution and development of CLN2 protein, the late-infantile neuronal ceroid lipofuscinosis gene product. (11547947)
2001
32
Diagnosis of late-infantile neuronal ceroid lipofuscinosis: a new sensitive method to assay lysosomal pepstatin-insensitive proteinase activity in human and animal specimens by capillary electrophoresis. (11504071)
2001
33
Electroencephalography in juvenile neuronal ceroid lipofuscinosis: visual and quantitative analysis. (11588993)
2001
34
First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis. (10416973)
1999
35
Melatonin ineffective in neuronal ceroid lipofuscinosis patients with fragmented or normal motor activity rhythms recorded by wrist actigraphy. (10191137)
1999
36
Molecular diagnosis of Finnish type infantile neuronal ceroid lipofuscinosis by restriction fragment length polymorphism and oligonucleotide ligation assay. (9799772)
1998
37
Adult neuronal ceroid lipofuscinosis with clinical findings consistent with a butterfly glioma. Case report. (9452242)
1998
38
Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9. (9600738)
1998
39
Association of mutations in a lysosomal protein with classical late- infantile neuronal ceroid lipofuscinosis. (9295267)
1997
40
Diagnostic (clinical and morphological) criteria for adult neuronal ceroid-lipofuscinosis (Kufs' disease), HA'pital de la SalpActriA"re 'AFM Institut de Myologie', Paris, France, 5 December 1996. (9223136)
1997
41
Accumulation of mitochondrial ATP synthase subunit c in muscle in a patient with neuronal ceroid lipofuscinosis (late infantile form). (9194903)
1997
42
The ovine model of neuronal ceroid lipofuscinosis (NCL): its contribution to understanding the pathogenesis of Batten disease. (9151325)
1997
43
The Brn-3a transcription factor gene (POU4F1) maps close to the locus for the variant late infantile form of neuronal ceroid-lipofuscinosis. (8941380)
1996
44
Identification of YAC clones for human chromosome 1p32 and physical mapping of the infantile neuronal ceroid lipofuscinosis (INCL) locus. (7789974)
1995
45
MRI evaluation of the brain in infantile neuronal ceroid-lipofuscinosis. Part 1: Postmortem MRI with histopathologic correlation. (8576552)
1995
46
Positron emission tomography in neuronal ceroid lipofuscinosis (Jansky-Bielschowsky disease): a case report. (7694995)
1994
47
KlA1ver-Bucy syndrome in juvenile neuronal ceroid lipofuscinosis. (8151088)
1994
48
The electrooculogram in heterozygote carriers of Usher syndrome, retinitis pigmentosa, neuronal ceroid lipofuscinosis, senior syndrome and choroideremia. (7953249)
1994
49
Neuronal ceroid lipofuscinosis in Rambouillet sheep: characterization of the clinical disease. (7837115)
1994
50
Proteinase inhibitor alpha 1-antichymotrypsin has different expression in various forms of neuronal ceroid lipofuscinosis. (1698654)
1990

Genetic Variations for Neuronal Ceroid Lipofuscinosis

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Expression for genes affiliated with Neuronal Ceroid Lipofuscinosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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29KEGG
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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

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44Novoseek, 24HMDB, 28IUPHAR
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Compounds related to Neuronal Ceroid Lipofuscinosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glycosphingolipid4410.4CTSD, PSAP
2mannose 6-phosphate44 2411.4TPP1, CLN3, PPT1, CTSD, PSAP
3atp44 2811.3PSAP, CTSD, PPT1, ATP5E, CLN3, TPP1
4palmitate4410.1DNAJC5, PPT1, PPT2

GO Terms for genes affiliated with Neuronal Ceroid Lipofuscinosis

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16Gene Ontology
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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, CLN6, PPT1
2associative learningGO:00830610.6PPT1, CLN8, CLN3
3protein catabolic processGO:03016310.6PPT1, CLN8, CLN6, CLN3, CLN5, TPP1
4negative regulation of neuron apoptotic processGO:04352410.6CLN3, DNAJC5, POU4F1, PPT1
5cell deathGO:00821910.5TPP1, KCTD7, CTSD, MFSD8, DNAJC5, CLN8
6lysosome organizationGO:00704010.5TPP1, CLN3, CLN8
7neuromuscular process controlling balanceGO:05088510.5CLN8, CLN3, TPP1
8negative regulation of proteolysisGO:04586110.4CLN3, CLN8
9visual perceptionGO:00760110.4CLN5, CLN6, CLN8, PPT1
10cellular protein catabolic processGO:04425710.3PPT1, CLN8
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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Neuronal Ceroid Lipofuscinosis

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