CLN8NE
MCID: CRD075
MIFTS: 43

Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant (CLN8NE)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant:

Name: Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 58 76 30 13 6
Northern Epilepsy 58 54 60 56
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type 12 54 60
Ceroid Lipofuscinosis Neuronal 8 54 30 6
Epmr 58 12 76
Neuronal Ceroid Lipofuscinosis 8 Northern Epilepsy Variant 12 15
Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant 54 60
Cln8 Disease, Northern Epilepsy Variant 54 60
Ncl, Northern Epilepsy Variant 54 60
Northern Epilepsy Syndrome 77 74
Northern Epilepsy Variant, Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant 12
Progressive Epilepsy with Mental Retardation, Northern Epilepsy 12
Progressive Epilepsy - Intellectual Disability, Finnish Type 54
Epilepsy, Progressive, with Mental Retardation; Epmr 58
Epilepsy, Progressive, with Mental Retardation 58
Progressive Epilepsy with Mental Retardation 76
Lipofuscinosis, Ceroid, Neuronal, Type 8 41
Ceroid Lipofuscinosis, Neuronal, 8 74
Neuronal Ceroid Lipofuscinosis 8 54
Cln8 Disease, Late Infantile 54
Cln8 Disease, Epmr 54
Cln8ne 76
Cln8 54

Characteristics:

Orphanet epidemiological data:

60
progressive epilepsy-intellectual disability syndrome, finnish type
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset age 5 to 10 years
decrease in seizure frequency in middle age
protracted disease course
allelic disorder to cln8
all known cases are caused by a finnish founder mutation in the cln8 gene


HPO:

33
ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110724
OMIM 58 610003
MeSH 45 D009472
ICD10 34 E75.4
ICD10 via Orphanet 35 E75.4
UMLS via Orphanet 75 C1864923
Orphanet 60 ORPHA1947
MedGen 43 C1864923

Summaries for Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant

NIH Rare Diseases : 54 Northern epilepsy is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 5 and 10 years and may include recurrent seizures, mild intellectual disability, and motor abnormalities (i.e. problems with coordination and balance). Some affected people may also experience decreased visual acuity. Northern epilepsy is caused by changes (mutations) in the CLN8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.

MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant, also known as northern epilepsy, is related to ceroid lipofuscinosis, neuronal, 1 and visual cortex disease, and has symptoms including seizures, ataxia and myoclonus. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant is CLN8 (CLN8 Transmembrane ER And ERGIC Protein), and among its related pathways/superpathways is Lysosome. Affiliated tissues include brain, and related phenotypes are eeg abnormality and progressive visual loss

Disease Ontology : 12 A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has material basis in a Finnish founder mutation in the CLN8 gene on chromosome 8p23.

OMIM : 58 The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN8 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles (Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730). (610003)

UniProtKB/Swiss-Prot : 76 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant: A form of neuronal ceroid lipofuscinosis clinically characterized by epilepsy that presents between 5 and 10 years of age with frequent tonic-clonic seizures followed by progressive mental retardation. Visual loss is not a prominent feature. Intracellular accumulation of autofluorescent material results in curvilinear and granular profiles on ultrastructural analysis.

Wikipedia : 77 Northern epilepsy syndrome (NE), or progressive epilepsy with mental retardation (EPMR), is a subtype of... more...

Related Diseases for Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant

Graphical network of the top 20 diseases related to Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant:



Diseases related to Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant

Symptoms & Phenotypes for Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant:

60 33 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0002353
2 progressive visual loss 60 33 hallmark (90%) Very frequent (99-80%) HP:0000529
3 generalized tonic-clonic seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0002069
4 clumsiness 60 33 hallmark (90%) Very frequent (99-80%) HP:0002312
5 restlessness 60 33 hallmark (90%) Very frequent (99-80%) HP:0000711
6 focal impaired awareness seizure 33 hallmark (90%) HP:0002384
7 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
8 developmental regression 60 33 frequent (33%) Frequent (79-30%) HP:0002376
9 psychosis 60 33 frequent (33%) Frequent (79-30%) HP:0000709
10 mental deterioration 60 33 frequent (33%) Frequent (79-30%) HP:0001268
11 behavioral abnormality 60 Very frequent (99-80%)
12 irritability 33 HP:0000737
13 cerebellar atrophy 33 HP:0001272
14 focal seizures with impairment of consciousness or awareness 60 Very frequent (99-80%)
15 cerebral atrophy 33 HP:0002059
16 increased neuronal autofluorescent lipopigment 33 HP:0002074
17 curvilinear intracellular accumulation of autofluorescent lipopigment storage material 33 HP:0003205

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
generalized tonic-clonic seizures
clumsiness
autofluorescent lipopigment in neurons
eeg abnormalities
cerebral atrophy, progressive
more
Laboratory Abnormalities:
intracellular curvilinear profiles on ultrastructural analysis
intracellular granular material on ultrastructural analysis

Neurologic Behavioral Psychiatric Manifestations:
restlessness
irritability beginning at puberty
inattentiveness

Clinical features from OMIM:

610003

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant:


seizures, ataxia, myoclonus, clumsiness, restlessness

MGI Mouse Phenotypes related to Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.55 CLN3 CLN6 CLN8 MFSD8 VWA1
2 nervous system MP:0003631 9.43 CLN3 CLN5 CLN6 CLN8 MFSD8 VWA1
3 vision/eye MP:0005391 9.02 CLN3 CLN5 CLN6 CLN8 MFSD8

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant

Search Clinical Trials , NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant

Genetic tests related to Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant:

# Genetic test Affiliating Genes
1 Ceroid Lipofuscinosis Neuronal 8 30 CLN8
2 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 30 CLN8

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant

MalaCards organs/tissues related to Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant:

42
Brain

Publications for Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant

Articles related to Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant:

# Title Authors Year
1
Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy. ( 27844444 )
2017
2
Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. ( 15024724 )
2004
3
Northern epilepsy syndrome (NES, CLN8)--MRI and electrophysiological studies. ( 11588991 )
2001
4
Northern epilepsy, a new member of the NCL family. ( 11073227 )
2000
5
Northern epilepsy: a novel form of neuronal ceroid-lipofuscinosis. ( 10764041 )
2000
6
Neurophysiological findings in the northern epilepsy syndrome. ( 9048977 )
1997
7
Northern epilepsy syndrome: clinical course and the effect of medication on seizures. ( 7635097 )
1995
8
Neuroradiological findings in the northern epilepsy syndrome. ( 7892756 )
1994
9
Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration. ( 8014963 )
1994

Variations for Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant

UniProtKB/Swiss-Prot genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant:

76
# Symbol AA change Variation ID SNP ID
1 CLN8 p.Arg24Gly VAR_013174 rs104894064

ClinVar genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant:

6 (show top 50) (show all 100)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLN8 NM_018941.3(CLN8): c.709G> A (p.Gly237Arg) single nucleotide variant Likely pathogenic rs746645358 GRCh37 Chromosome 8, 1728581: 1728581
2 CLN8 NM_018941.3(CLN8): c.709G> A (p.Gly237Arg) single nucleotide variant Likely pathogenic rs746645358 GRCh38 Chromosome 8, 1780415: 1780415
3 CLN8 NM_018941.3(CLN8): c.806A> T (p.Glu269Val) single nucleotide variant Conflicting interpretations of pathogenicity rs139003032 GRCh37 Chromosome 8, 1728678: 1728678
4 CLN8 NM_018941.3(CLN8): c.806A> T (p.Glu269Val) single nucleotide variant Conflicting interpretations of pathogenicity rs139003032 GRCh38 Chromosome 8, 1780512: 1780512
5 CLN8 NM_018941.3(CLN8): c.50A> G (p.Asp17Gly) single nucleotide variant Uncertain significance rs148668081 GRCh38 Chromosome 8, 1771104: 1771104
6 CLN8 NM_018941.3(CLN8): c.50A> G (p.Asp17Gly) single nucleotide variant Uncertain significance rs148668081 GRCh37 Chromosome 8, 1719270: 1719270
7 CLN8 NM_018941.3(CLN8): c.374A> G (p.Asn125Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs142269885 GRCh37 Chromosome 8, 1719594: 1719594
8 CLN8 NM_018941.3(CLN8): c.374A> G (p.Asn125Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs142269885 GRCh38 Chromosome 8, 1771428: 1771428
9 CLN8 NM_018941.3(CLN8): c.499G> T (p.Glu167Ter) single nucleotide variant Pathogenic/Likely pathogenic rs144495588 GRCh37 Chromosome 8, 1719719: 1719719
10 CLN8 NM_018941.3(CLN8): c.499G> T (p.Glu167Ter) single nucleotide variant Pathogenic/Likely pathogenic rs144495588 GRCh38 Chromosome 8, 1771553: 1771553
11 CLN8 NM_018941.3(CLN8): c.470A> G (p.His157Arg) single nucleotide variant Likely pathogenic rs149308952 GRCh38 Chromosome 8, 1771524: 1771524
12 CLN8 NM_018941.3(CLN8): c.470A> G (p.His157Arg) single nucleotide variant Likely pathogenic rs149308952 GRCh37 Chromosome 8, 1719690: 1719690
13 CLN8 NM_018941.3(CLN8): c.208C> T (p.Arg70Cys) single nucleotide variant no interpretation for the single variant rs765097897 GRCh37 Chromosome 8, 1719428: 1719428
14 CLN8 NM_018941.3(CLN8): c.208C> T (p.Arg70Cys) single nucleotide variant no interpretation for the single variant rs765097897 GRCh38 Chromosome 8, 1771262: 1771262
15 CLN8 NM_018941.3(CLN8): c.70C> G (p.Arg24Gly) single nucleotide variant Pathogenic rs104894064 GRCh37 Chromosome 8, 1719290: 1719290
16 CLN8 NM_018941.3(CLN8): c.70C> G (p.Arg24Gly) single nucleotide variant Pathogenic rs104894064 GRCh38 Chromosome 8, 1771124: 1771124
17 CLN8 NM_018941.3(CLN8): c.789G> C (p.Trp263Cys) single nucleotide variant Pathogenic rs28940569 GRCh37 Chromosome 8, 1728661: 1728661
18 CLN8 NM_018941.3(CLN8): c.789G> C (p.Trp263Cys) single nucleotide variant Pathogenic rs28940569 GRCh38 Chromosome 8, 1780495: 1780495
19 CLN8 NM_018941.3(CLN8): c.610C> T (p.Arg204Cys) single nucleotide variant Likely pathogenic rs104894060 GRCh37 Chromosome 8, 1728482: 1728482
20 CLN8 NM_018941.3(CLN8): c.610C> T (p.Arg204Cys) single nucleotide variant Likely pathogenic rs104894060 GRCh38 Chromosome 8, 1780316: 1780316
21 CLN8 NM_018941.3(CLN8): c.88G> C (p.Ala30Pro) single nucleotide variant Pathogenic rs137852883 GRCh37 Chromosome 8, 1719308: 1719308
22 CLN8 NM_018941.3(CLN8): c.88G> C (p.Ala30Pro) single nucleotide variant Pathogenic rs137852883 GRCh38 Chromosome 8, 1771142: 1771142
23 CLN8 NM_018941.3(CLN8): c.181_183del (p.Lys61del) deletion Pathogenic/Likely pathogenic rs386834123 GRCh37 Chromosome 8, 1719400: 1719402
24 CLN8 NM_018941.3(CLN8): c.181_183del (p.Lys61del) deletion Pathogenic/Likely pathogenic rs386834123 GRCh38 Chromosome 8, 1771234: 1771236
25 CLN8 NM_018941.3(CLN8): c.209G> A (p.Arg70His) single nucleotide variant Conflicting interpretations of pathogenicity rs386834124 GRCh37 Chromosome 8, 1719429: 1719429
26 CLN8 NM_018941.3(CLN8): c.209G> A (p.Arg70His) single nucleotide variant Conflicting interpretations of pathogenicity rs386834124 GRCh38 Chromosome 8, 1771263: 1771263
27 CLN8 NM_018941.3(CLN8): c.227A> G (p.Gln76Arg) single nucleotide variant Likely pathogenic rs386834125 GRCh37 Chromosome 8, 1719447: 1719447
28 CLN8 NM_018941.3(CLN8): c.227A> G (p.Gln76Arg) single nucleotide variant Likely pathogenic rs386834125 GRCh38 Chromosome 8, 1771281: 1771281
29 CLN8 NM_018941.3(CLN8): c.320T> G (p.Ile107Ser) single nucleotide variant Likely pathogenic rs386834126 GRCh37 Chromosome 8, 1719540: 1719540
30 CLN8 NM_018941.3(CLN8): c.320T> G (p.Ile107Ser) single nucleotide variant Likely pathogenic rs386834126 GRCh38 Chromosome 8, 1771374: 1771374
31 CLN8 NM_018941.3(CLN8): c.415C> T (p.His139Tyr) single nucleotide variant Likely pathogenic rs386834127 GRCh37 Chromosome 8, 1719635: 1719635
32 CLN8 NM_018941.3(CLN8): c.415C> T (p.His139Tyr) single nucleotide variant Likely pathogenic rs386834127 GRCh38 Chromosome 8, 1771469: 1771469
33 CLN8 NM_018941.3(CLN8): c.464C> T (p.Ala155Val) single nucleotide variant Likely pathogenic rs386834128 GRCh37 Chromosome 8, 1719684: 1719684
34 CLN8 NM_018941.3(CLN8): c.464C> T (p.Ala155Val) single nucleotide variant Likely pathogenic rs386834128 GRCh38 Chromosome 8, 1771518: 1771518
35 CLN8 NM_018941.3(CLN8): c.46C> A (p.Leu16Met) single nucleotide variant Uncertain significance rs386834129 GRCh37 Chromosome 8, 1719266: 1719266
36 CLN8 NM_018941.3(CLN8): c.46C> A (p.Leu16Met) single nucleotide variant Uncertain significance rs386834129 GRCh38 Chromosome 8, 1771100: 1771100
37 CLN8 NM_018941.3(CLN8): c.473A> G (p.Tyr158Cys) single nucleotide variant Likely pathogenic rs386834130 GRCh37 Chromosome 8, 1719693: 1719693
38 CLN8 NM_018941.3(CLN8): c.473A> G (p.Tyr158Cys) single nucleotide variant Likely pathogenic rs386834130 GRCh38 Chromosome 8, 1771527: 1771527
39 CLN8 NM_018941.3(CLN8): c.507C> T (p.Ser169=) single nucleotide variant Likely benign rs386834131 GRCh37 Chromosome 8, 1719727: 1719727
40 CLN8 NM_018941.3(CLN8): c.507C> T (p.Ser169=) single nucleotide variant Likely benign rs386834131 GRCh38 Chromosome 8, 1771561: 1771561
41 CLN8 NM_018941.3(CLN8): c.509C> T (p.Thr170Met) single nucleotide variant Likely pathogenic rs188259026 GRCh37 Chromosome 8, 1719729: 1719729
42 CLN8 NM_018941.3(CLN8): c.509C> T (p.Thr170Met) single nucleotide variant Likely pathogenic rs188259026 GRCh38 Chromosome 8, 1771563: 1771563
43 CLN8 NM_018941.3(CLN8): c.562_563delCT (p.Leu188Valfs) deletion Likely pathogenic rs386834132 GRCh37 Chromosome 8, 1728434: 1728435
44 CLN8 NM_018941.3(CLN8): c.562_563delCT (p.Leu188Valfs) deletion Likely pathogenic rs386834132 GRCh38 Chromosome 8, 1780268: 1780269
45 CLN8 NM_018941.3(CLN8): c.581A> G (p.Gln194Arg) single nucleotide variant Likely pathogenic rs386834133 GRCh37 Chromosome 8, 1728453: 1728453
46 CLN8 NM_018941.3(CLN8): c.581A> G (p.Gln194Arg) single nucleotide variant Likely pathogenic rs386834133 GRCh38 Chromosome 8, 1780287: 1780287
47 CLN8 NM_018941.3(CLN8): c.611G> T (p.Arg204Leu) single nucleotide variant Uncertain significance rs386834134 GRCh37 Chromosome 8, 1728483: 1728483
48 CLN8 NM_018941.3(CLN8): c.611G> T (p.Arg204Leu) single nucleotide variant Uncertain significance rs386834134 GRCh38 Chromosome 8, 1780317: 1780317
49 CLN8 NM_018941.3(CLN8): c.637_639delTGG (p.Trp213del) deletion Likely pathogenic rs386834135 GRCh37 Chromosome 8, 1728509: 1728511
50 CLN8 NM_018941.3(CLN8): c.637_639delTGG (p.Trp213del) deletion Likely pathogenic rs386834135 GRCh38 Chromosome 8, 1780343: 1780345

Expression for Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant

Search GEO for disease gene expression data for Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant.

Pathways for Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant

Pathways related to Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.89 CLN3 CLN5 MFSD8

GO Terms for Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant

Cellular components related to Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.46 CLN3 CLN5 CLN6 CLN8
2 lysosome GO:0005764 9.13 CLN3 CLN5 MFSD8
3 lysosomal membrane GO:0005765 8.8 CLN3 CLN5 MFSD8

Biological processes related to Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cholesterol metabolic process GO:0008203 9.46 CLN6 CLN8
2 negative regulation of proteolysis GO:0045861 9.37 CLN3 CLN8
3 lysosomal lumen acidification GO:0007042 9.33 CLN3 CLN5 CLN6
4 ceramide metabolic process GO:0006672 9.32 CLN3 CLN8
5 protein catabolic process GO:0030163 9.26 CLN3 CLN5 CLN6 CLN8
6 neuromuscular process controlling balance GO:0050885 9.13 CLN3
7 associative learning GO:0008306 9.1 CLN3
8 cellular macromolecule catabolic process GO:0044265 8.96 CLN6
9 lysosome organization GO:0007040 8.8 CLN3 CLN6 MFSD8

Sources for Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
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45 MeSH
46 MESH via Orphanet
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56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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