MCID: NRN005
MIFTS: 54

Neuronal Ceroid-Lipofuscinoses malady

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

Summaries for Neuronal Ceroid-Lipofuscinoses

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Genetics Home Reference:21 Infantile neuronal ceroid lipofuscinosis (NCL) is an inherited disorder that primarily affects the nervous system. Beginning in infancy, children with this condition have intellectual and motor disability, rarely developing the ability to speak or walk. Affected children often have muscle twitches (myoclonus), recurrent seizures (epilepsy), or vision impairment. An unusually small head (microcephaly) and progressive loss of nerve cells in the brain are also characteristic features of this disorder. Children with infantile NCL usually do not survive past childhood.

MalaCards based summary: Neuronal Ceroid-Lipofuscinoses, also known as infantile neuronal ceroid lipofuscinosis, is related to ceroid lipofuscinosis, neuronal, 1 and ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant, and has symptoms including microcephaly, visual impairment and abnormal electroretinogram. An important gene associated with Neuronal Ceroid-Lipofuscinoses is CLN3 (ceroid-lipofuscinosis, neuronal 3), and among its related pathways is Lysosome. The compounds mannose 6-phosphate and cyanine have been mentioned in the context of this disorder. Affiliated tissues include brain, retina and skin, and related mouse phenotypes are vision/eye and homeostasis/metabolism.

GeneReviews summary for ncl

Aliases & Classifications for Neuronal Ceroid-Lipofuscinoses

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Sources:
31MalaCards, 30LifeMap Discovery®, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Neuronal Ceroid-Lipofuscinoses, Aliases & Descriptions:

Name: Neuronal Ceroid-Lipofuscinoses 31 19 30 60
Infantile Neuronal Ceroid Lipofuscinosis 21 43 47 60
Neuronal Ceroid Lipofuscinoses 41 20 43
Neuronal Ceroid Lipofuscinosis, Infantile 21 22
Neuronal Ceroid-Lipofuscinosis, Infantile 31 30
Santavuori-Haltia Disease 21 47
Batten Disease 19 41
Ceroid Lipofuscinosis, Neuronal 1, Infantile 60
Juvenile Neuronal Ceroid Lipofuscinosis 60
 
Ceroid Lipofuscinosis, Neuronal, 1 60
Neuronal Ceroid Lipofuscinosis 1 21
Hagberg-Santavuori Disease 47
Infantile Batten Disease 21
Santavuori Disease 47
Infantile Ncl 47
Incl 47
Cln1 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
infantile neuronal ceroid lipofuscinosis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe),<1/1000000 (Sweden),1-9/1000000 (Sweden),1-9/1000000 (Finland),1-9/100000 (Finland),<1/1000000 (Norway); Age of onset: Infancy,Neonatal; Age of death: early childhood


External Ids:

Orphanet47 79263
MESH via Orphanet34 C537948
ICD10 via Orphanet26 E75.4
UMLS via Orphanet61 C0268281, C2931673

Related Diseases for Neuronal Ceroid-Lipofuscinoses

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

(show top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1ceroid lipofuscinosis, neuronal, 131.4CLN6, CLN5
2ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant31.2CLN8
3lysosomal storage disease30.6CTSD, CLN3, TPP1, PPT1
4blindness30.6TPP1, CLN8, CLN3, CLN5, CLN6
5ceroid lipofuscinosis, neuronal, 330.5PPT1, TPP1, CLN3, CLN5, CTSD
6dementia30.3SLC1A3, GRN, PVALB, CLN5
7neuronal ceroid lipofuscinosis30.2PPT1, MFSD8, TPP1, CLN8, CLN3, CLN5
8neuronitis11.5
9juvenile batten disease10.8
10rett syndrome10.5
11ceroid lipofuscinosis, neuronal, 210.5
12ceroid lipofuscinosis, neuronal, 610.5
13spinocerebellar ataxia 710.4
14aspartylglucosaminuria10.4
15krabbe disease10.4
16hematopoietic stem cell transplantation10.4
17retinitis10.4
18spinocerebellar ataxia10.4
19precocious puberty10.4
20ataxia10.4
21fetal alcohol syndrome10.3PVALB
22ceroid lipofuscinosis, neuronal, 710.3
23ceroid lipofuscinosis, neuronal, 810.3
24ceroid lipofuscinosis, neuronal, 1010.3
25ceroid lipofuscinosis, neuronal, 510.3
26ceroid lipofuscinosis, neuronal, kufs type, adult onset10.3
27epilepsy, progressive myoclonic 1a10.3
28hermansky-pudlak syndrome10.3
29mucopolysaccharidosis10.3
30progressive myoclonus epilepsy10.3
31ceroid storage disease10.3
32myoclonus epilepsy10.3
33myoclonus10.3
34visual epilepsy10.3CLN6, TPP1
35neonatal hypoxic and ischemic brain injury10.2SLC1A3, PVALB
36ganglioglioma10.1CALB2, PVALB
37temporal lobe epilepsy10.1PVALB, SLC1A3
38neuroblastoma10.1
39fragile x syndrome10.1
40cataract10.1
41cerebritis10.1
42retinal degeneration10.1
43pneumonia10.0
44neurosyphilis10.0
45ceroid lipofuscinosis, neuronal, 1110.0
46epilepsy, progressive myoclonic 3, with or without intracellular inclusions10.0
47ceroid lipofuscinosis, neuronal, 13, kufs type10.0
48ceroid lipofuscinosis, neuronal, 4, parry type10.0
49adult neuronal ceroid lipofuscinosis10.0
50renal clear cell carcinoma10.0PVALB, CALB2

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



Diseases related to neuronal ceroid-lipofuscinoses

Symptoms for Neuronal Ceroid-Lipofuscinoses

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Symptoms:

 47 (show all 14)
  • microcephaly
  • macular dystrophy/absence/hypoplasia of the macula
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • visual loss/blindness/amblyopia
  • abnormal erg/electroretinogram/electroretinography
  • abnormal vep/visual evoked potential
  • absent/hypotonic/flaccid abdominal wall muscles
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • eeg anomalies
  • myoclonus/fasciculations
  • tics/stereotypias
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • seizures/epilepsy/absences/spasms/status epilepticus
  • autosomal recessive inheritance

HPO human phenotypes related to Neuronal Ceroid-Lipofuscinoses:

(show all 13)
id Description Frequency HPO Source Accession
1 microcephaly hallmark (90%) HP:0000252
2 visual impairment hallmark (90%) HP:0000505
3 abnormal electroretinogram hallmark (90%) HP:0000512
4 optic atrophy hallmark (90%) HP:0000648
5 abnormality of vision evoked potentials hallmark (90%) HP:0000649
6 stereotypic behavior hallmark (90%) HP:0000733
7 abnormality of the macula hallmark (90%) HP:0001103
8 seizures hallmark (90%) HP:0001250
9 cerebral cortical atrophy hallmark (90%) HP:0002120
10 eeg abnormality hallmark (90%) HP:0002353
11 involuntary movements hallmark (90%) HP:0004305
12 hemiplegia/hemiparesis hallmark (90%) HP:0004374
13 aplasia/hypoplasia of the abdominal wall musculature hallmark (90%) HP:0010318

Drugs & Therapeutics for Neuronal Ceroid-Lipofuscinoses

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Drug clinical trials:

Search ClinicalTrials for Neuronal Ceroid-Lipofuscinoses

Search NIH Clinical Center for Neuronal Ceroid-Lipofuscinoses

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Neuronal Ceroid-Lipofuscinoses cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Neuronal Ceroid-Lipofuscinoses:
HuCNS-SC
Embryonic/Adult Cultured Cells Related to Neuronal Ceroid-Lipofuscinoses:
Human neural stem cells (HuCNS-SC, PMID: 16610769

Genetic Tests for Neuronal Ceroid-Lipofuscinoses

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Genetic tests related to Neuronal Ceroid-Lipofuscinoses:

id Genetic test Affiliating Genes
1 Neuronal Ceroid-Lipofuscinoses Multi-Gene Panels20
2 Neuronal Ceroid-Lipofuscinoses20 TPP1
3 Infantile Neuronal Ceroid Lipofuscinosis22

Anatomical Context for Neuronal Ceroid-Lipofuscinoses

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MalaCards organs/tissues related to Neuronal Ceroid-Lipofuscinoses:

31
Brain, Retina, Skin, Testes

Animal Models for Neuronal Ceroid-Lipofuscinoses or affiliated genes

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MGI Mouse Phenotypes related to Neuronal Ceroid-Lipofuscinoses:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.1PPT1, CLN8, CLN3, CLN5, CLN6, DNAJC5
2MP:00053768.1TPP1, CLN3, DNAJC5, GRN, CTSD, SLC1A3
3MP:00107687.2PPT1, TPP1, CLN8, CLN3, CLN6, DNAJC5
4MP:00053865.3CLN3, CLN8, TPP1, ATP13A2, PPT1, CLN6
5MP:00036315.1SLC1A3, PPT1, ATP13A2, TPP1, CLN8, CLN3

Publications for Neuronal Ceroid-Lipofuscinoses

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Articles related to Neuronal Ceroid-Lipofuscinoses:

(show top 50)    (show all 183)
idTitleAuthorsYear
1
Juvenile neuronal ceroid lipofuscinoses (CLN3 Batten disease): what kind of epilepsy? (25523638)
2015
2
Clinical, electrophysiological, imaging, and ultrastructural description in 68 patients with neuronal ceroid lipofuscinoses and its subtypes. (24120650)
2014
3
Deregulation of biometal homeostasis: the missing link for neuronal ceroid lipofuscinoses? (24804307)
2014
4
Classification and natural history of the neuronal ceroid lipofuscinoses. (23838030)
2013
5
The neuronal ceroid-lipofuscinoses: a historical introduction. (22959893)
2013
6
Juvenile neuronal ceroid lipofuscinoses. (22411240)
2012
7
New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. (22778232)
2012
8
Mechanisms of neurodegeneration in neuronal ceroid-lipofuscinoses. (16465529)
2006
9
The neuronal ceroid-lipofuscinoses: from past to present. (16908122)
2006
10
Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins. (16839750)
2006
11
Neuronal ceroid lipofuscinoses therapeutic strategies: past, present and future. (17049436)
2006
12
Diagnosis of the neuronal ceroid lipofuscinoses: an update. (16930952)
2006
13
Palmitoyl Protein Thioesterase1 (PPT1) and Tripeptidyl Peptidase-I (TPP-I) are expressed in the human saliva. A reliable and non-invasive source for the diagnosis of infantile (CLN1) and late infantile (CLN2) neuronal ceroid lipofuscinoses. (15820783)
2005
14
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. (15965709)
2005
15
Participation of autophagy in storage of lysosomes in neurons from mouse models of neuronal ceroid-lipofuscinoses (Batten disease). (16314482)
2005
16
Selectivity and types of cell death in the neuronal ceroid lipofuscinoses. (14997941)
2004
17
Hippocampal pathology in the human neuronal ceroid-lipofuscinoses: distinct patterns of storage deposition, neurodegeneration and glial activation. (15605981)
2004
18
Altered amino acid levels in sera of a mouse model for juvenile neuronal ceroid lipofuscinoses. (12763292)
2003
19
The neuronal ceroid-lipofuscinoses. (12528813)
2003
20
Mitochondrial dysfunction in the neuronal ceroid-lipofuscinoses (Batten disease). (11850114)
2002
21
The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease. (12025857)
2002
22
Clinical features and molecular genetic basis of the neuronal ceroid lipofuscinoses. (11968447)
2002
23
Neuronal ceroid lipofuscinoses: classification and diagnosis. (11332767)
2001
24
Biochemistry of neuronal ceroid lipofuscinoses. (11332778)
2001
25
Proceedings of the 8th International Congress on Neuronal Ceroid Lipofuscinoses (Batten Disease). Oxford, United Kingdom, September 2000. (11588977)
2001
26
Altered levels of high-energy phosphate compounds in fibroblasts from different forms of neuronal ceroid lipofuscinoses: further evidence for mitochondrial involvement. (11588986)
2001
27
Morphological aspects of the neuronal ceroid lipofuscinoses. (11073225)
2000
28
Neuronal ceroid lipofuscinoses in childhood. (11073226)
2000
29
Electroencephalographic features in a series of patients with neuronal ceroid lipofuscinoses. (11073233)
2000
30
Genetics of the neuronal ceroid lipofuscinoses. (10826995)
2000
31
Biochemical aspects of neuronal ceroid lipofuscinoses. (11073224)
2000
32
Developmental changes in the expression of neuronal ceroid lipofuscinoses-linked proteins. (11001810)
2000
33
The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland. (10191109)
1999
34
Seventh international congress on the neuronal ceroid-lipofuscinoses: NCL-98 (10191105)
1999
35
The neuronal ceroid-lipofuscinoses. Recent advances. (9458173)
1998
36
Incidence of neuronal perikaryal spheroids in neuronal ceroid lipofuscinoses (Batten disease). (9707331)
1998
37
Neurophysiological findings in neuronal ceroid lipofuscinoses. (9151328)
1997
38
Classification of the neuronal ceroid-lipofuscinoses: expansion of the atypical forms. (7668320)
1995
39
Comparative biology of the neuronal ceroid-lipofuscinoses (NCL): an overview. (7668352)
1995
40
Immunological studies on sphingolipid activator proteins in the neuronal ceroid-lipofuscinoses. (8821335)
1995
41
Increased expression of subunit c of mitochondrial ATP synthase in brain tissue from neuronal ceroid lipofuscinoses and mucopolysaccharidosis cases but not in long-term fibroblast cultures. (8152585)
1993
42
Neuronal Ceroid-Lipofuscinoses (20301601)
1993
43
Proceedings of the 4th International Symposium on the Neuronal Ceroid-lipofuscinoses (Batten disease). Hamburg, Germany, 11-13 June 1992. (8105141)
1993
44
Neurology of the neuronal ceroid-lipofuscinoses: late infantile and juvenile types. (1609833)
1992
45
The neuronal ceroid lipofuscinoses. (2671115)
1989
46
Reconsideration of the classification of the neuronal ceroid-lipofuscinoses. (3146331)
1988
47
Bleomycin-detectable iron and phenanthroline-detectable copper in the cerebrospinal fluid of patients with neuronal ceroid-lipofuscinoses. (2464355)
1988
48
Significance of muscle biopsies in neuronal ceroid-lipofuscinoses. (172609)
1975
49
Involvement of the skin in late infantile and juvenile amaurotic idiocies (neuronal ceroid-lipofuscinoses). (4457780)
1974
50
The neuronal ceroid-lipofuscinoses--Batten-Vogt syndrome: a model for human aging? (4329200)
1971

Variations for Neuronal Ceroid-Lipofuscinoses

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Clinvar genetic disease variations for Neuronal Ceroid-Lipofuscinoses:

6
id Gene Variation Type Significance SNP ID Assembly Location
1CLN3NM_000086.2(CLN3): c.371_372insT (p.Ser125Glnfs)insertionPathogenicGRCh37Chr 16, 28498985: 28498986
2PPT1NM_000310.3(PPT1): c.364A> T (p.Arg122Trp)single nucleotide variantPathogenicrs137852695GRCh37Chr 1, 40557070: 40557070
3PPT1NM_000310.3(PPT1): c.223A> C (p.Thr75Pro)single nucleotide variantPathogenicrs137852696GRCh37Chr 1, 40558081: 40558081
4PPT1NM_000310.3(PPT1): c.236A> G (p.Asp79Gly)single nucleotide variantPathogenicrs137852697GRCh37Chr 1, 40557843: 40557843
5PPT1NM_000310.3(PPT1): c.656T> A (p.Leu219Gln)single nucleotide variantPathogenicrs137852698GRCh37Chr 1, 40544302: 40544302
6PPT1NM_000310.3(PPT1): c.29T> A (p.Leu10Ter)single nucleotide variantPathogenicrs137852699GRCh37Chr 1, 40562882: 40562882
7PPT1NM_000310.3(PPT1): c.451C> T (p.Arg151Ter)single nucleotide variantPathogenicrs137852700GRCh37Chr 1, 40555167: 40555167
8PPT1NM_000310.3(PPT1): c.322G> C (p.Gly108Arg)single nucleotide variantPathogenicrs137852701GRCh37Chr 1, 40557757: 40557757
9PPT1NM_000310.3(PPT1): c.134G> A (p.Cys45Tyr)single nucleotide variantPathogenicrs137852702GRCh37Chr 1, 40558170: 40558170

Expression for genes affiliated with Neuronal Ceroid-Lipofuscinoses

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Search GEO for disease gene expression data for Neuronal Ceroid-Lipofuscinoses.

Pathways for genes affiliated with Neuronal Ceroid-Lipofuscinoses

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Pathways related to Neuronal Ceroid-Lipofuscinoses according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.5CTSD, CTSF, CLN5, CLN3, TPP1, MFSD8

Compounds for genes affiliated with Neuronal Ceroid-Lipofuscinoses

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Sources:
43Novoseek, 24HMDB, 28IUPHAR, 49PharmGKB, 12DrugBank
See all sources

Compounds related to Neuronal Ceroid-Lipofuscinoses according to GeneCards Suite gene sharing:

(show all 13)
idCompoundScoreTop Affiliating Genes
1mannose 6-phosphate43 2410.7CTSD, CLN3, TPP1, PPT1
2cyanine439.4CALB2, PVALB
3quinolinic acid43 2410.2PVALB, CALB2
4silver439.0CTSD, CALB2, PVALB
5aspartate438.8SLC1A3, CTSD, PVALB, TPP1
6gaba438.8SLC1A3, CALB2, PVALB
7nmda43 289.7SLC1A3, CALB2, PVALB
8ethanol43 49 24 1211.5PVALB, CALB2, CTSD
9atp43 289.4PPT1, TPP1, CLN3, PVALB, CTSD, SLC1A3
10nitric oxide43 24 1210.4SLC1A3, CTSD, CALB2, PVALB
11cysteine438.4PPT1, DNAJC5, GRN, CTSF, CTSD, SLC1A3
12glutamate438.4CLN3, PVALB, CALB2, CTSD, SLC1A3
13serine438.4PPT1, TPP1, CLN3, PVALB, CTSD, SLC1A3

GO Terms for genes affiliated with Neuronal Ceroid-Lipofuscinoses

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

idNameGO IDScoreTop Affiliating Genes
1synaptic vesicleGO:00080219.7DNAJC5, CLN3, PPT1
2endoplasmic reticulumGO:00057839.5CLN6, CLN5, CLN8, CLN3
3lysosomal lumenGO:00432029.3TPP1, CTSF, CTSD
4melanosomeGO:00424709.2TPP1, DNAJC5, CTSD
5lysosomal membraneGO:00057659.0DNAJC5, CLN3, MFSD8, ATP13A2, CLN5
6mitochondrionGO:00057398.4CTSD, TPP1, GRN, DNAJC5, CLN3, CLN8
7lysosomeGO:00057648.4CTSF, PPT1, ATP13A2, TPP1, CLN3, CTSD

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1cellular protein catabolic processGO:004425710.1PPT1, CLN8
2ceramide metabolic processGO:000667210.0CLN3, CLN8
3associative learningGO:000830610.0PPT1, CLN8, CLN3
4negative regulation of proteolysisGO:00458619.9CLN8, CLN3
5neurotransmitter secretionGO:00072699.9DNAJC5, PPT1
6lysosome organizationGO:00070409.9TPP1, CLN8, CLN3
7lysosomal lumen acidificationGO:00070429.8PPT1, CLN3, CLN5, CLN6
8negative regulation of neuron apoptotic processGO:00435249.7DNAJC5, CLN3, PPT1
9visual perceptionGO:00076019.6CLN6, CLN5, CLN8, PPT1
10neuromuscular process controlling balanceGO:00508859.6SLC1A3, CLN3, CLN8, TPP1
11nervous system developmentGO:00073999.4CLN8, TPP1, PPT1
12protein catabolic processGO:00301639.2PPT1, TPP1, CLN8, CLN3, CLN5, CLN6
13cytosolic calcium ion homeostasisGO:00514809.1CALB2, PVALB, CLN3
14cell deathGO:00082196.5CTSD, ATP13A2, MFSD8, KCTD7, TPP1, CLN8

Products for genes affiliated with Neuronal Ceroid-Lipofuscinoses

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Neuronal Ceroid-Lipofuscinoses

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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