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

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 marrow, Bone, Retina, Cortex, Cerebellum, Heart, Hypothalamus, Thalamus

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
Redefining the "hyperphotoconvulsive" response of late-infantile neuronal ceroid lipofuscinosis. (24262339)
2014
2
Neuronal ceroid lipofuscinosis with early-onset dementia and periventricular leukoencephalopathy in which a skin biopsy was diagnostically useful. (24088765)
2013
3
Successful PGD for late infantile neuronal ceroid lipofuscinosis achieved by combined chromosome and TPP1 gene analysis. (23768618)
2013
4
Methodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates. (23628560)
2013
5
Altered biometal homeostasis is associated with CLN6 mRNA loss in mouse neuronal ceroid lipofuscinosis. (23789114)
2013
6
Progressive retinal degeneration and glial activation in the CLN6 (nclf) mouse model of neuronal ceroid lipofuscinosis: a beneficial effect of DHA and curcumin supplementation. (24124525)
2013
7
Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients. (22832778)
2013
8
A reversal learning task detects cognitive deficits in a Dachshund model of late-infantile neuronal ceroid lipofuscinosis. (21745338)
2011
9
Dissimilar neuropsychiatric presentations of two siblings with juvenile neuronal ceroid lipofuscinosis (Batten disease). (20160229)
2010
10
Electroencephalography in autosomal dominant adult neuronal ceroid lipofuscinosis. (19699676)
2009
11
A murine model of infantile neuronal ceroid lipofuscinosis-ultrastructural evaluation of storage in the central nervous system and viscera. (17990914)
2008
12
Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant. (20960652)
2008
13
Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late infantile. (18846689)
2008
14
Phenotypic characterization of a mouse model of juvenile neuronal ceroid lipofuscinosis. (17962032)
2008
15
RAGE signaling contributes to neuroinflammation in infantile neuronal ceroid lipofuscinosis. (18948101)
2008
16
Neuronal ceroid lipofuscinosis in 3 Australian shepherd littermates. (18371036)
2008
17
Successive neuron loss in the thalamus and cortex in a mouse model of infantile neuronal ceroid lipofuscinosis. (17046272)
2007
18
Cathepsin D deficiency underlies congenital human neuronal ceroid- lipofuscinosis. (16670177)
2006
19
Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis. (16759889)
2006
20
Protracted juvenile neuronal ceroid lipofuscinosis--an autopsy report and immunohistochemical analysis. (16503390)
2006
21
Activation of non-neuronal cells within the prenatal developing brain of sheep with neuronal ceroid lipofuscinosis. (16768750)
2006
22
A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis. (15629147)
2005
23
Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes. (15317752)
2004
24
Neuroradiological findings (MRS, MRI, SPECT) in infantile neuronal ceroid-lipofuscinosis (infantile CLN1) at different stages of the disease. (15002049)
2004
25
A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging. (15459177)
2004
26
Case 27-2002: late-onset infantile neuronal ceroid lipofuscinosis. (12761381)
2003
27
R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis. (12950156)
2003
28
Comparison of brain perfusion SPECT and MRI findings in children with neuronal ceroid-lipofuscinosis and in their families. (12126045)
2002
29
Altered flurothyl seizure induction latency, phenotype, and subsequent mortality in a mouse model of juvenile neuronal ceroid lipofuscinosis/batten disease. (12366726)
2002
30
Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. (11791207)
2002
31
Neuronal ceroid lipofuscinosis/Batten disease: the lysosomal proteinoses. (12082556)
2002
32
Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis. (11440996)
2001
33
Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8. (11589000)
2001
34
Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: implications for infantile neuronal ceroid lipofuscinosis (INCL). (11136716)
2001
35
A favorable response to antiparkinsonian treatment in juvenile neuronal ceroid lipofuscinosis. (11342698)
2001
36
Infantile neuronal ceroid lipofuscinosis: no longer just a 'Finnish' disease. (11589007)
2001
37
Heterogeneity of late-infantile neuronal ceroid lipofuscinosis. (11339651)
2000
38
Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene. (10356316)
1999
39
A disrupted homologue of the human CLN3 or juvenile neuronal ceroid lipofuscinosis gene in Saccharomyces cerevisiae: a model to study Batten disease. (10384264)
1999
40
Pathological study on sibling autopsy cases of the late infantile form of neuronal ceroid lipofuscinosis. (10082255)
1999
41
Splicing variants in sheep CLN3, the gene underlying juvenile neuronal ceroid lipofuscinosis. (10356317)
1999
42
Normal ascorbic acid in cerebrospinal fluid of patients with infantile neuronal ceroid-lipofuscinosis. (10348315)
1999
43
First African-American child with juvenile neuronal ceroid lipofuscinosis. (9779797)
1998
44
Neuroradiological findings in classical late infantile neuronal ceroid-lipofuscinosis. (8972537)
1996
45
Brain perfusion SPECT in juvenile neuronal ceroid lipofuscinosis. (8737823)
1996
46
Immunelectronmicroscopic characterization of T4 and T8 lymphocytes and natural killer cells in neuronal ceroid-lipofuscinosis. (7668333)
1995
47
Prenatal diagnosis of infantile neuronal ceroid-lipofuscinosis: a combined electron microscopic and molecular genetic approach. (7625554)
1995
48
Tissue culture loading test with storage granules from animal models of neuronal ceroid-lipofuscinosis (Batten disease): testing their lysosomal degradability by normal and Batten cells. (7668332)
1995
49
Topographic variabilities of immunoreactivity to subunit c of mitochondrial ATP synthase and lectin binding in late infantile neuronal ceroid-lipofuscinosis. (7668327)
1995
50
Juvenile-onset neuronal ceroid-lipofuscinosis in Rambouillet sheep. (8140725)
1994

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:04320210.3CTSD, TPP1, PSAP
6melanosomeGO:04247010.1CTSD, TPP1, DNAJC5

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

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