MCID: NRN021
MIFTS: 59

Neuronal Ceroid Lipofuscinosis malady

Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases categories
Download this MalaCard

Summaries for Neuronal Ceroid Lipofuscinosis

About this section


Fully expand this MalaCard
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 based summary: Neuronal Ceroid Lipofuscinosis, also known as hereditary ceroid lipofuscinosis, is related to northern epilepsy and batten disease, and has symptoms including 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:65 Neuronal ceroid lipofuscinoses (NCL) is the general name for a family of at least eight genetically... more...

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

Aliases & Classifications for Neuronal Ceroid Lipofuscinosis

About this section

Neuronal Ceroid Lipofuscinosis, Aliases & Descriptions:

Name: Neuronal Ceroid Lipofuscinosis 8 22 43 10
Hereditary Ceroid Lipofuscinosis 8 62
 
Neuronal Ceroid-Lipofuscinoses 62


Classifications:



External Ids:

Disease Ontology8 DOID:14503
SNOMED-CT57 42012007
NCIt39 C61257
MeSH34 D009472

Related Diseases for Neuronal Ceroid Lipofuscinosis

About this section

Diseases in the Ceroid Lipofuscinosis Neuronal 1 family:

neuronal ceroid lipofuscinosis Adult Neuronal Ceroid Lipofuscinosis
Ceroid Lipofuscinosis Neuronal 10 Ceroid Lipofuscinosis Neuronal 2
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 54)
idRelated DiseaseScoreTop Affiliating Genes
1northern epilepsy31.6CLN8
2batten disease31.5PPT1, TPP1, CLN3, CLN5
3late-infantile neuronal ceroid lipofuscinosis31.3CLN6, CLN5, CLN3, CLN8, TPP1, PPT1
4lysosomal storage disease30.4CLN3, TPP1, PPT1
5neuronal ceroid-lipofuscinoses30.2PPT1, MFSD8, CLN6, CLN5, CLN3, CLN8
6neuronitis11.7
7adult neuronal ceroid lipofuscinosis11.1
8congenital neuronal ceroid lipofuscinosis10.9
9retinitis10.8
10ceroid lipofuscinosis neuronal 110.8
11ceroid lipofuscinosis neuronal 1010.8
12ceroid lipofuscinosis neuronal 210.8
13autosomal dominant neuronal ceroid lipofuscinosis 4b10.6
14ceroid lipofuscinosis neuronal 510.6
15ceroid lipofuscinosis neuronal 610.6
16ceroid lipofuscinosis, neuronal, 4, parry type10.6
17retinal degeneration10.5
18ceroid lipofuscinosis neuronal 710.5
19ceroid lipofuscinosis neuronal 910.5
20juvenile batten disease10.5
21ceroid lipofuscinosis, neuronal, 13, kufs type10.5
22retinitis pigmentosa10.5
23neuroaxonal dystrophy10.5
24rett syndrome10.5
25cerebritis10.5
26gangliosidosis10.5
27parkinson disease type 910.5
28progressive myoclonic epilepsy 3 with or without intracellular inclusions10.5
29ataxia10.5
30ceroid lipofuscinosis, neuronal, kufs type, adult onset10.5
31cataract10.3
32hematopoietic stem cell transplantation10.3
33hydrocephalus10.3
34krabbe disease10.3
35aspartylglucosaminuria10.3
36acute pancreatitis10.3
37neuroleptic malignant syndrome10.3
38hyperandrogenism10.3
39hypertrophic cardiomyopathy10.3
40usher syndrome10.3
41apraxia10.3
42choroideremia10.3
43dementia10.3
44lymphopenia10.3
45pancreatitis10.3
46spinocerebellar ataxia10.3
47cerebellar degeneration10.3
48left ventricular noncompaction10.3
49precocious puberty10.3
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

About this section


Clinical features from OMIM:

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

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

About this section

Drug clinical trials:

Search ClinicalTrials for Neuronal Ceroid Lipofuscinosis

Search NIH Clinical Center for Neuronal Ceroid Lipofuscinosis

Genetic Tests for Neuronal Ceroid Lipofuscinosis

About this section

Genetic tests related to Neuronal Ceroid Lipofuscinosis:

id Genetic test Affiliating Genes
1 Neuronal Ceroid Lipofuscinosis22

Anatomical Context for Neuronal Ceroid Lipofuscinosis

About this section

MalaCards organs/tissues related to Neuronal Ceroid Lipofuscinosis:

32
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

About this section

MGI Mouse Phenotypes related to Neuronal Ceroid Lipofuscinosis:

36
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

About this section

Articles related to Neuronal Ceroid Lipofuscinosis:

(show top 50)    (show all 536)
idTitleAuthorsYear
1
Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosis. (25387857)
2014
2
Microglia in juvenile neuronal ceroid lipofuscinosis are primed toward a pro-inflammatory phenotype. (23919525)
2013
3
A novel c.776_777insA mutation in CLN1 leads to infantile neuronal ceroid lipofuscinosis. (23857568)
2013
4
Cell biology and function of neuronal ceroid lipofuscinosis-related proteins. (23402926)
2013
5
Neuronal ceroid lipofuscinosis with early-onset dementia and periventricular leukoencephalopathy in which a skin biopsy was diagnostically useful. (24088765)
2013
6
Systemic administration of tripeptidyl peptidase I in a mouse model of late infantile neuronal ceroid lipofuscinosis: effect of glycan modification. (22792360)
2012
7
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. (22388936)
2012
8
Neuronal ceroid lipofuscinosis in a mallard duck (Anas platyrhynchos). (22645836)
2012
9
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
10
A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis. (20820830)
2011
11
A missense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis. (21234413)
2011
12
Current therapies for the soluble lysosomal forms of neuronal ceroid lipofuscinosis. (21118112)
2010
13
The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. (20052765)
2010
14
Electroencephalography in autosomal dominant adult neuronal ceroid lipofuscinosis. (19699676)
2009
15
A murine model of infantile neuronal ceroid lipofuscinosis-ultrastructural evaluation of storage in the central nervous system and viscera. (17990914)
2008
16
Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant. (20960652)
2008
17
Late-infantile neuronal ceroid lipofuscinosis (CLN2/Jansky-Bielschowsky type) in Oman. (17690061)
2007
18
Alterations in striatal dopamine catabolism precede loss of substantia nigra neurons in a mouse model of juvenile neuronal ceroid lipofuscinosis. (17617387)
2007
19
Metabolomic investigation of CLN6 neuronal ceroid lipofuscinosis in affected South Hampshire sheep. (17510975)
2007
20
Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. (17607606)
2007
21
Optimized synthesis of AMPA receptor antagonist ZK 187638 and neurobehavioral activity in a mouse model of neuronal ceroid lipofuscinosis. (16972289)
2006
22
Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis. (17023146)
2006
23
Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 gene. (16935476)
2006
24
From gene to disease; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis]. (15730038)
2005
25
Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes. (15317752)
2004
26
Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosis. (12644737)
2003
27
Neuronal ceroid-lipofuscinosis and hydrocephalus in a chihuahua. (12779175)
2003
28
Neuronal ceroid lipofuscinosis in Merino sheep. (12074311)
2002
29
CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis. (12059962)
2002
30
Distribution and development of CLN2 protein, the late-infantile neuronal ceroid lipofuscinosis gene product. (11547947)
2001
31
Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2). (11588995)
2001
32
First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis. (11241534)
2001
33
Northern epilepsy: a novel form of neuronal ceroid-lipofuscinosis. (10764041)
2000
34
The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. (10861296)
2000
35
The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis. (10781062)
2000
36
MRI in neuronal ceroid lipofuscinosis. (11073231)
2000
37
Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene. (10356316)
1999
38
First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis. (10416973)
1999
39
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
40
Genetic markers linked to neuronal ceroid lipofuscinosis in English setter dogs. (9800325)
1998
41
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. (9662406)
1998
42
Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis. (9450775)
1998
43
Decreased lysosomal subunit c-degrading activity in fibroblasts from patients with late infantile neuronal ceroid lipofuscinosis. (9151323)
1997
44
Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits. (9151314)
1997
45
Neuronal ceroid-lipofuscinosis in a domestic cat: clinical, morphological and immunohistochemical findings. (9263841)
1997
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

About this section

Expression for genes affiliated with Neuronal Ceroid Lipofuscinosis

About this section
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

About this section

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

About this section
Sources:
44Novoseek, 24HMDB
See all sources

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

idCompoundScoreTop Affiliating Genes
1palmitate449.6DNAJC5, PPT1
2mannose 6-phosphate44 2410.3CLN3, TPP1, PPT1
3lipid448.5CLN6, CLN3, CLN8, PPT1

GO Terms for genes affiliated with Neuronal Ceroid Lipofuscinosis

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet