MCID: NRN021
MIFTS: 55

Neuronal Ceroid Lipofuscinosis malady

Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases categories

Summaries for Neuronal Ceroid Lipofuscinosis

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NINDS:42 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 based summary: Neuronal Ceroid Lipofuscinosis, also known as hereditary ceroid lipofuscinosis, is related to ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant and ceroid lipofuscinosis, neuronal, 1, and has symptoms including visual impairment, abnormal electroretinogram and ocular 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 brain, eye and testes, and related mouse phenotypes are mortality/aging and vision/eye.

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

Aliases & Classifications for Neuronal Ceroid Lipofuscinosis

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Neuronal Ceroid Lipofuscinosis, Aliases & Descriptions:

Name: Neuronal Ceroid Lipofuscinosis 9 42 11 22
Hereditary Ceroid Lipofuscinosis 9
 
Neuronal Ceroid-Lipofuscinoses 60


Classifications:



External Ids:

Disease Ontology9 DOID:14503
ICD9CM27 330.1
NCIt38 C61257
SNOMED-CT55 42012007
MeSH33 D009472
ICD1025 E75.4

Related Diseases for Neuronal Ceroid Lipofuscinosis

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Diseases in the Neuronal Ceroid Lipofuscinosis family:

Ceroid Lipofuscinosis, Neuronal, 1 Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 8 Ceroid Lipofuscinosis, Neuronal, 10
Ceroid Lipofuscinosis, Neuronal, 2 Ceroid Lipofuscinosis, Neuronal, 5
Ceroid Lipofuscinosis, Neuronal, 6 Ceroid Lipofuscinosis, Neuronal, 3
Ceroid Lipofuscinosis, Neuronal, 11 Adult Neuronal Ceroid Lipofuscinosis
Ceroid Lipofuscinosis Neuronal 9 Congenital Neuronal Ceroid Lipofuscinosis

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

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant31.6CLN8
2ceroid lipofuscinosis, neuronal, 131.4CLN5, CLN6
3ceroid lipofuscinosis, neuronal, 331.0PPT1, TPP1, CLN3, CLN5
4lysosomal storage disease30.5CLN3, TPP1, PPT1
5neuronal ceroid-lipofuscinoses30.2PPT1, MFSD8, CLN6, CLN5, CLN3, CLN8
6neuronitis11.7
7adult neuronal ceroid lipofuscinosis11.1
8congenital neuronal ceroid lipofuscinosis11.0
9retinitis10.8
10ceroid lipofuscinosis, neuronal, 1010.7
11ceroid lipofuscinosis, neuronal, 610.7
12ceroid lipofuscinosis, neuronal, 4, parry type10.7
13ceroid lipofuscinosis, neuronal, 210.6
14ceroid lipofuscinosis, neuronal, 510.6
15retinal degeneration10.6
16juvenile batten disease10.6
17ceroid lipofuscinosis, neuronal, 710.5
18rett syndrome10.5
19epilepsy, progressive myoclonic 3, with or without intracellular inclusions10.5
20ceroid lipofuscinosis, neuronal, 13, kufs type10.5
21retinitis pigmentosa10.5
22neuroaxonal dystrophy10.5
23hypertrophic cardiomyopathy10.5
24cerebritis10.5
25gangliosidosis10.5
26ceroid lipofuscinosis neuronal 910.5
27left ventricular noncompaction10.5
28ataxia10.5
29kufor-rakeb syndrome10.3
30spinocerebellar ataxia 710.3
31aspartylglucosaminuria10.3
32krabbe disease10.3
33choroideremia10.3
34ceroid lipofuscinosis, neuronal, kufs type, adult onset10.3
35cataract10.3
36hematopoietic stem cell transplantation10.3
37hydrocephalus10.3
38acute pancreatitis10.3
39hyperandrogenism10.3
40usher syndrome10.3
41neuroleptic malignant syndrome10.3
42apraxia10.3
43dementia10.3
44lymphopenia10.3
45pancreatitis10.3
46spinocerebellar ataxia10.3
47cerebellar degeneration10.3
48precocious puberty10.3
49cln11 disease10.3
50cln13 disease10.3

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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HPO human phenotypes related to Neuronal Ceroid Lipofuscinosis:

(show all 15)
id Description Frequency HPO Source Accession
1 visual impairment hallmark (90%) HP:0000505
2 abnormal electroretinogram hallmark (90%) HP:0000512
3 ocular albinism hallmark (90%) HP:0001107
4 seizures hallmark (90%) HP:0001250
5 muscular hypotonia hallmark (90%) HP:0001252
6 eeg abnormality hallmark (90%) HP:0002353
7 abnormality of the retinal vasculature hallmark (90%) HP:0008046
8 cognitive impairment hallmark (90%) HP:0100543
9 optic atrophy typical (50%) HP:0000648
10 abnormality of metabolism/homeostasis typical (50%) HP:0001939
11 neurological speech impairment typical (50%) HP:0002167
12 developmental regression typical (50%) HP:0002376
13 abnormality of movement typical (50%) HP:0100022
14 behavioral abnormality occasional (7.5%) HP:0000708
15 incoordination occasional (7.5%) HP:0002311

Drugs & Therapeutics for Neuronal Ceroid Lipofuscinosis

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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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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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MalaCards organs/tissues related to Neuronal Ceroid Lipofuscinosis:

31
Brain, Eye, Testes, Skin, Spleen, Kidney, Liver, Pons, Bone marrow, Bone, Cortex, Retina, Cerebellum, Heart, Thalamus, Hypothalamus

Animal Models for Neuronal Ceroid Lipofuscinosis or affiliated genes

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MGI Mouse Phenotypes related to Neuronal Ceroid Lipofuscinosis:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.9PPT1, TPP1, CLN8, CLN3, CLN6, DNAJC5
2MP:00053917.9CLN6, PPT1, CLN8, CLN3, CLN5, DNAJC5
3MP:00053867.6PPT1, TPP1, CLN8, CLN3, CLN6, DNAJC5
4MP:00036317.4DNAJC5, PPT1, CLN6, CLN5, CLN3, CLN8

Publications for Neuronal Ceroid Lipofuscinosis

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Articles related to Neuronal Ceroid Lipofuscinosis:

(show top 50)    (show all 538)
idTitleAuthorsYear
1
A Case-controlled Investigation of Pain Experience and Sensory Function in Neuronal Ceroid Lipofuscinosis. (25569218)
2015
2
Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease). (24547931)
2014
3
Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosis. (25387857)
2014
4
Microglia in juvenile neuronal ceroid lipofuscinosis are primed toward a pro-inflammatory phenotype. (23919525)
2013
5
A novel c.776_777insA mutation in CLN1 leads to infantile neuronal ceroid lipofuscinosis. (23857568)
2013
6
Cell biology and function of neuronal ceroid lipofuscinosis-related proteins. (23402926)
2013
7
Neuronal ceroid lipofuscinosis with early-onset dementia and periventricular leukoencephalopathy in which a skin biopsy was diagnostically useful. (24088765)
2013
8
Systemic administration of tripeptidyl peptidase I in a mouse model of late infantile neuronal ceroid lipofuscinosis: effect of glycan modification. (22792360)
2012
9
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. (22388936)
2012
10
Neuronal ceroid lipofuscinosis in a mallard duck (Anas platyrhynchos). (22645836)
2012
11
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
12
A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis. (20820830)
2011
13
A missense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis. (21234413)
2011
14
Current therapies for the soluble lysosomal forms of neuronal ceroid lipofuscinosis. (21118112)
2010
15
The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. (20052765)
2010
16
Electroencephalography in autosomal dominant adult neuronal ceroid lipofuscinosis. (19699676)
2009
17
A murine model of infantile neuronal ceroid lipofuscinosis-ultrastructural evaluation of storage in the central nervous system and viscera. (17990914)
2008
18
Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant. (20960652)
2008
19
Late-infantile neuronal ceroid lipofuscinosis (CLN2/Jansky-Bielschowsky type) in Oman. (17690061)
2007
20
Alterations in striatal dopamine catabolism precede loss of substantia nigra neurons in a mouse model of juvenile neuronal ceroid lipofuscinosis. (17617387)
2007
21
Metabolomic investigation of CLN6 neuronal ceroid lipofuscinosis in affected South Hampshire sheep. (17510975)
2007
22
Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. (17607606)
2007
23
Optimized synthesis of AMPA receptor antagonist ZK 187638 and neurobehavioral activity in a mouse model of neuronal ceroid lipofuscinosis. (16972289)
2006
24
Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis. (17023146)
2006
25
Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 gene. (16935476)
2006
26
From gene to disease; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis]. (15730038)
2005
27
Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes. (15317752)
2004
28
Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosis. (12644737)
2003
29
Neuronal ceroid-lipofuscinosis and hydrocephalus in a chihuahua. (12779175)
2003
30
Neuronal ceroid lipofuscinosis in Merino sheep. (12074311)
2002
31
CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis. (12059962)
2002
32
Distribution and development of CLN2 protein, the late-infantile neuronal ceroid lipofuscinosis gene product. (11547947)
2001
33
Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2). (11588995)
2001
34
First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis. (11241534)
2001
35
Northern epilepsy: a novel form of neuronal ceroid-lipofuscinosis. (10764041)
2000
36
The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. (10861296)
2000
37
The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis. (10781062)
2000
38
MRI in neuronal ceroid lipofuscinosis. (11073231)
2000
39
Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene. (10356316)
1999
40
First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis. (10416973)
1999
41
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
42
Genetic markers linked to neuronal ceroid lipofuscinosis in English setter dogs. (9800325)
1998
43
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. (9662406)
1998
44
Decreased lysosomal subunit c-degrading activity in fibroblasts from patients with late infantile neuronal ceroid lipofuscinosis. (9151323)
1997
45
Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits. (9151314)
1997
46
Neuronal ceroid-lipofuscinosis in a domestic cat: clinical, morphological and immunohistochemical findings. (9263841)
1997
47
Identification of YAC clones for human chromosome 1p32 and physical mapping of the infantile neuronal ceroid lipofuscinosis (INCL) locus. (7789974)
1995
48
Neuronal ceroid-lipofuscinosis in a cat. (8578638)
1995
49
Carrier detection of Batten disease (juvenile neuronal ceroid-lipofuscinosis). (7668358)
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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Search GEO for disease gene expression data for Neuronal Ceroid Lipofuscinosis.

Pathways for genes affiliated with Neuronal Ceroid Lipofuscinosis

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Pathways related to Neuronal Ceroid Lipofuscinosis according to GeneCards Suite gene sharing:

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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Sources:
43Novoseek, 24HMDB
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Compounds related to Neuronal Ceroid Lipofuscinosis according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1palmitate439.6DNAJC5, PPT1
2mannose 6-phosphate43 2410.3CLN3, TPP1, PPT1
3lipid438.5CLN6, CLN3, CLN8, PPT1

GO Terms for genes affiliated with Neuronal Ceroid Lipofuscinosis

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Cellular components related to Neuronal Ceroid Lipofuscinosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1melanosomeGO:00424709.6DNAJC5, TPP1
2synaptic vesicleGO:00080219.3PPT1, CLN3, DNAJC5
3lysosomeGO:00057649.1CLN5, CLN3, TPP1, PPT1
4endoplasmic reticulumGO:00057838.7CLN6, CLN5, CLN3, CLN8
5lysosomal membraneGO:00057658.7DNAJC5, CLN5, CLN3, MFSD8
6mitochondrionGO:00057398.4TPP1, CLN8, CLN3, DNAJC5

Biological processes related to Neuronal Ceroid Lipofuscinosis according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1cellular protein catabolic processGO:00442579.8CLN8, PPT1
2ceramide metabolic processGO:00066729.8CLN3, CLN8
3negative regulation of proteolysisGO:00458619.7CLN8, CLN3
4neurotransmitter secretionGO:00072699.6DNAJC5, PPT1
5associative learningGO:00083069.6PPT1, CLN8, CLN3
6lysosome organizationGO:00070409.5CLN3, CLN8, TPP1
7receptor-mediated endocytosisGO:00068989.5CLN3, PPT1
8negative regulation of neuron apoptotic processGO:00435249.5PPT1, CLN3, DNAJC5
9neuromuscular process controlling balanceGO:00508859.5CLN3, CLN8, TPP1
10cholesterol metabolic processGO:00082039.4CLN8, CLN6
11nervous system developmentGO:00073999.3CLN8, TPP1, PPT1
12negative regulation of apoptotic processGO:00430669.3CLN3, CLN8, PPT1
13lysosomal lumen acidificationGO:00070429.2CLN6, CLN5, CLN3, PPT1
14visual perceptionGO:00076019.0PPT1, CLN8, CLN5, CLN6
15protein catabolic processGO:00301638.4CLN6, CLN5, CLN3, CLN8, TPP1, PPT1
16cell deathGO:00082197.5MFSD8, TPP1, CLN8, CLN3, CLN5, CLN6

Products for genes affiliated with Neuronal Ceroid Lipofuscinosis

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  • Antibodies
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  • Lysates
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  • Kits and Assays

Sources for Neuronal Ceroid Lipofuscinosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet