NCL
MCID: NRN021
MIFTS: 64

Neuronal Ceroid Lipofuscinosis (NCL) malady

Genetic diseases, Neuronal diseases, Eye diseases, Rare diseases categories
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Summaries for Neuronal Ceroid Lipofuscinosis

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Sources:
44NINDS, 65Wikipedia, 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 late-infantile neuronal ceroid lipofuscinosis and batten disease, 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 palmitate 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 vision/eye.

Wikipedia:65 Neuronal ceroid lipofuscinoses (NCL) is the general name for a family of at least eight genetically... more...

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

Aliases & Classifications for Neuronal Ceroid Lipofuscinosis

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Sources:
62UMLS, 8Disease Ontology, 22GTR, 44NINDS, 10DISEASES, 49Orphanet, 58SNOMED-CT, 47OMIM, 40NCIt, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
neuronal ceroid lipofuscinosis:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000; 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 62
ncl 49


External Ids:

Disease Ontology8 DOID:14503
NCIt40 C61257
MeSH35 D009472
SNOMED-CT58 42012007
MESH via Orphanet36 D009472
ICD10 via Orphanet26 E75.4
SNOMED-CT via Orphanet59 42012007
UMLS via Orphanet63 C0027877

Related Diseases for Neuronal Ceroid Lipofuscinosis

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17GeneCards, 18GeneDecks
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Diseases in the Ceroid Lipofuscinosis Neuronal 2 family:

neuronal ceroid lipofuscinosis Adult Neuronal Ceroid Lipofuscinosis
Ceroid Lipofuscinosis Neuronal 1 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 59)
idRelated DiseaseScoreTop Affiliating Genes
1late-infantile neuronal ceroid lipofuscinosis31.8CLN6, CLN5, CLN3, CLN8, PPT1, TPP1
2batten disease31.6TPP1, CLN3, CLN5, PPT1
3northern epilepsy31.3CLN8
4neuronal ceroid-lipofuscinoses31.0PPT1, TPP1, CLN8, CLN6, CLN5, CLN3
5lysosomal storage disease30.4PPT1, TPP1, CLN3
6neuronitis11.6
7adult neuronal ceroid lipofuscinosis11.1
8congenital neuronal ceroid lipofuscinosis10.9
9retinitis10.8
10ceroid lipofuscinosis neuronal 1010.8
11ceroid lipofuscinosis neuronal 110.7
12ceroid lipofuscinosis neuronal 210.7
13autosomal dominant neuronal ceroid lipofuscinosis 4b10.6
14ceroid lipofuscinosis neuronal 510.6
15ceroid lipofuscinosis neuronal 610.6
16retinal degeneration10.5
17ceroid lipofuscinosis neuronal 710.5
18ceroid lipofuscinosis neuronal 910.5
19ceroid lipofuscinosis, neuronal, 13, kufs type10.5
20ceroid lipofuscinosis, neuronal, 4, parry type10.5
21rett syndrome10.4
22neuroaxonal dystrophy10.4
23retinitis pigmentosa10.4
24cerebritis10.4
25gangliosidosis10.4
26congenital disorders of n-linked glycosylation pathway10.4
27parkinson disease type 910.4
28progressive myoclonic epilepsy 3 with or without intracellular inclusions10.4
29juvenile batten disease10.4
30ceroid lipofuscinosis, neuronal, kufs type, adult onset10.4
31ceroid lipofuscinosis, neuronal, 1110.4
32acute pancreatitis10.3
33hyperandrogenism10.3
34krabbe disease10.3
35hypertrophic cardiomyopathy10.3
36usher syndrome10.3
37aspartylglucosaminuria10.3
38neuroleptic malignant syndrome10.3
39apraxia10.3
40choroideremia10.3
41dementia10.3
42hydrocephalus10.3
43lymphopenia10.3
44pancreatitis10.3
45spinocerebellar ataxia10.3
46cerebellar degeneration10.3
47left ventricular noncompaction10.3
48precocious puberty10.3
49ataxia10.3
50spasticity10.3

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



Diseases related to neuronal ceroid lipofuscinosis

Symptoms for Neuronal Ceroid Lipofuscinosis

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47OMIM, 49Orphanet
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Clinical features from OMIM:

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

Symptoms:

49 (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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Neuronal Ceroid Lipofuscinosis

Search NIH Clinical Center for Neuronal Ceroid Lipofuscinosis

Genetic Tests for Neuronal Ceroid Lipofuscinosis

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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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33MalaCards
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MalaCards organs/tissues related to Neuronal Ceroid Lipofuscinosis:

33
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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37MGI
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MGI Mouse Phenotypes related to Neuronal Ceroid Lipofuscinosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.9DNAJC5, CLN6, CLN3, CLN8, TPP1, PPT1
2MP:00053917.9DNAJC5, CLN6, CLN5, CLN3, CLN8, PPT1
3MP:00053867.6PPT1, TPP1, CLN8, CLN3, CLN6, DNAJC5
4MP:00036317.4PPT1, TPP1, CLN8, CLN3, CLN5, CLN6

Publications for Neuronal Ceroid Lipofuscinosis

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52PubMed
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Articles related to Neuronal Ceroid Lipofuscinosis:

(show top 50)    (show all 509)
idTitleAuthorsYear
1
Microglia in juvenile neuronal ceroid lipofuscinosis are primed toward a pro-inflammatory phenotype. (23919525)
2013
2
A novel c.776_777insA mutation in CLN1 leads to infantile neuronal ceroid lipofuscinosis. (23857568)
2013
3
Cell biology and function of neuronal ceroid lipofuscinosis-related proteins. (23402926)
2013
4
Neuronal ceroid lipofuscinosis with early-onset dementia and periventricular leukoencephalopathy in which a skin biopsy was diagnostically useful. (24088765)
2013
5
Systemic administration of tripeptidyl peptidase I in a mouse model of late infantile neuronal ceroid lipofuscinosis: effect of glycan modification. (22792360)
2012
6
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. (22388936)
2012
7
Neuronal ceroid lipofuscinosis in a mallard duck (Anas platyrhynchos). (22645836)
2012
8
The specific loss of GnRH-positive neurons from the hypothalamus of sheep with CLN6 neuronal ceroid lipofuscinosis occurs without glial activation and has only minor effects on reproduction. (21111820)
2011
9
A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis. (20820830)
2011
10
A missense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis. (21234413)
2011
11
Current therapies for the soluble lysosomal forms of neuronal ceroid lipofuscinosis. (21118112)
2010
12
The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. (20052765)
2010
13
Electroencephalography in autosomal dominant adult neuronal ceroid lipofuscinosis. (19699676)
2009
14
A murine model of infantile neuronal ceroid lipofuscinosis-ultrastructural evaluation of storage in the central nervous system and viscera. (17990914)
2008
15
Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant. (20960652)
2008
16
Late-infantile neuronal ceroid lipofuscinosis (CLN2/Jansky-Bielschowsky type) in Oman. (17690061)
2007
17
Alterations in striatal dopamine catabolism precede loss of substantia nigra neurons in a mouse model of juvenile neuronal ceroid lipofuscinosis. (17617387)
2007
18
Metabolomic investigation of CLN6 neuronal ceroid lipofuscinosis in affected South Hampshire sheep. (17510975)
2007
19
Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. (17607606)
2007
20
Optimized synthesis of AMPA receptor antagonist ZK 187638 and neurobehavioral activity in a mouse model of neuronal ceroid lipofuscinosis. (16972289)
2006
21
Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis. (17023146)
2006
22
Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 gene. (16935476)
2006
23
From gene to disease; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis]. (15730038)
2005
24
Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes. (15317752)
2004
25
Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosis. (12644737)
2003
26
Neuronal ceroid-lipofuscinosis and hydrocephalus in a chihuahua. (12779175)
2003
27
Neuronal ceroid lipofuscinosis in Merino sheep. (12074311)
2002
28
CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis. (12059962)
2002
29
Distribution and development of CLN2 protein, the late-infantile neuronal ceroid lipofuscinosis gene product. (11547947)
2001
30
Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2). (11588995)
2001
31
First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis. (11241534)
2001
32
Northern epilepsy: a novel form of neuronal ceroid-lipofuscinosis. (10764041)
2000
33
The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. (10861296)
2000
34
The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis. (10781062)
2000
35
MRI in neuronal ceroid lipofuscinosis. (11073231)
2000
36
Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene. (10356316)
1999
37
First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis. (10416973)
1999
38
Detection of beta-A4 amyloid and its precursor protein in the muscle of a patient with juvenile neuronal ceroid lipofuscinosis (Spielmeyer-Vogt-SjAPgren). (10412803)
1999
39
Genetic markers linked to neuronal ceroid lipofuscinosis in English setter dogs. (9800325)
1998
40
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. (9662406)
1998
41
Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis. (9450775)
1998
42
Decreased lysosomal subunit c-degrading activity in fibroblasts from patients with late infantile neuronal ceroid lipofuscinosis. (9151323)
1997
43
Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits. (9151314)
1997
44
Neuronal ceroid-lipofuscinosis in a domestic cat: clinical, morphological and immunohistochemical findings. (9263841)
1997
45
Decreased activity of the mitochondrial ATP-synthase in fibroblasts from children with late-infantile and juvenile neuronal ceroid lipofuscinosis. (8739947)
1996
46
Identification of YAC clones for human chromosome 1p32 and physical mapping of the infantile neuronal ceroid lipofuscinosis (INCL) locus. (7789974)
1995
47
Neuronal ceroid-lipofuscinosis in a cat. (8578638)
1995
48
Carrier detection of Batten disease (juvenile neuronal ceroid-lipofuscinosis). (7668358)
1995
49
Neuronal ceroid-lipofuscinosis: late infantile form or juvenile form? (7573768)
1995
50
Accumulation of the adenosine triphosphate synthase subunit C in the mnd mutant mouse. A model for neuronal ceroid lipofuscinosis. (8160780)
1994

Variations for Neuronal Ceroid Lipofuscinosis

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Expression for genes affiliated with Neuronal Ceroid Lipofuscinosis

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2BioGPS, 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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50PathCards, 30KEGG
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Pathways related to Neuronal Ceroid Lipofuscinosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.4CLN5, CLN3, TPP1, MFSD8, PPT1

Compounds for genes affiliated with Neuronal Ceroid Lipofuscinosis

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45Novoseek, 24HMDB
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Compounds related to Neuronal Ceroid Lipofuscinosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1palmitate459.6DNAJC5, PPT1
2mannose 6-phosphate45 2410.3CLN3, TPP1, PPT1
3lipid458.5CLN6, CLN3, CLN8, PPT1

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
1melanosomeGO:0424709.6DNAJC5, TPP1
2synaptic vesicleGO:0080219.3PPT1, CLN3, DNAJC5
3lysosomeGO:0057649.1CLN5, CLN3, TPP1, PPT1
4endoplasmic reticulumGO:0057838.7CLN6, CLN5, CLN3, CLN8
5lysosomal membraneGO:0057658.7DNAJC5, CLN5, CLN3, MFSD8
6mitochondrionGO:0057398.4TPP1, CLN8, CLN3, DNAJC5

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1cellular protein catabolic processGO:0442579.8CLN8, PPT1
2ceramide metabolic processGO:0066729.8CLN3, CLN8
3negative regulation of proteolysisGO:0458619.7CLN8, CLN3
4neurotransmitter secretionGO:0072699.6DNAJC5, PPT1
5associative learningGO:0083069.6PPT1, CLN8, CLN3
6lysosome organizationGO:0070409.5CLN3, CLN8, TPP1
7receptor-mediated endocytosisGO:0068989.5CLN3, PPT1
8negative regulation of neuron apoptotic processGO:0435249.5PPT1, CLN3, DNAJC5
9neuromuscular process controlling balanceGO:0508859.5CLN3, CLN8, TPP1
10cholesterol metabolic processGO:0082039.4CLN8, CLN6
11nervous system developmentGO:0073999.3CLN8, TPP1, PPT1
12negative regulation of apoptotic processGO:0430669.3CLN3, CLN8, PPT1
13lysosomal lumen acidificationGO:0070429.2CLN6, CLN5, CLN3, PPT1
14visual perceptionGO:0076019.0PPT1, CLN8, CLN5, CLN6
15protein catabolic processGO:0301638.4CLN6, CLN5, CLN3, CLN8, TPP1, PPT1
16cell deathGO:0082197.5MFSD8, TPP1, CLN8, CLN3, CLN5, CLN6

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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet