MCID: CRD075
MIFTS: 41

Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Mental 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 57 75 29 13 6
Northern Epilepsy 57 53 59 55
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type 12 53 59
Ceroid Lipofuscinosis Neuronal 8 53 29 6
Epmr 57 12 75
Neuronal Ceroid Lipofuscinosis 8 Northern Epilepsy Variant 12 15
Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant 53 59
Cln8 Disease, Northern Epilepsy Variant 53 59
Ncl, Northern Epilepsy Variant 53 59
Northern Epilepsy Syndrome 76 73
Northern Epilepsy Variant, Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant 12
Progressive Epilepsy with Mental Retardation, Northern Epilepsy 12
Progressive Epilepsy - Intellectual Disability, Finnish Type 53
Epilepsy, Progressive, with Mental Retardation; Epmr 57
Epilepsy, Progressive, with Mental Retardation 57
Progressive Epilepsy with Mental Retardation 75
Lipofuscinosis, Ceroid, Neuronal, Type 8 40
Ceroid Lipofuscinosis, Neuronal, 8 73
Neuronal Ceroid Lipofuscinosis 8 53
Cln8 Disease, Late Infantile 53
Cln8 Disease, Epmr 53
Cln8ne 75
Cln8 53

Characteristics:

Orphanet epidemiological data:

59
progressive epilepsy-intellectual disability syndrome, finnish type
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
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:

32
ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 610003
Disease Ontology 12 DOID:0110724
ICD10 33 E75.4
Orphanet 59 ORPHA1947
UMLS via Orphanet 74 C1864923
ICD10 via Orphanet 34 E75.4
MedGen 42 C1864923
MeSH 44 D009472

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

NIH Rare Diseases : 53 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, 13 and cerebral atrophy, and has symptoms including ataxia, myoclonus and seizures. 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 intellectual disability and eeg abnormality

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 : 57 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 : 75 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 : 76 Northern epilepsy syndrome 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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
2 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
3 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
4 progressive visual loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0000529
5 generalized tonic-clonic seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002069
6 psychosis 59 32 frequent (33%) Frequent (79-30%) HP:0000709
7 clumsiness 59 32 hallmark (90%) Very frequent (99-80%) HP:0002312
8 mental deterioration 59 32 frequent (33%) Frequent (79-30%) HP:0001268
9 restlessness 59 32 hallmark (90%) Very frequent (99-80%) HP:0000711
10 focal seizures with impairment of consciousness or awareness 59 32 hallmark (90%) Very frequent (99-80%) HP:0002384
11 behavioral abnormality 59 Very frequent (99-80%)
12 irritability 32 HP:0000737
13 cerebellar atrophy 32 HP:0001272
14 cerebral atrophy 32 HP:0002059
15 increased neuronal autofluorescent lipopigment 32 HP:0002074
16 curvilinear intracellular accumulation of autofluorescent lipopigment storage material 32 HP:0003205

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


ataxia, myoclonus, seizures, clumsiness, restlessness

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.35 VWA1 CLN5 CLN6 CLN8 MFSD8
2 vision/eye MP:0005391 8.92 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 29 CLN8
2 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 29 CLN8

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

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

41
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:

75
# 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 59)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLN8 NM_018941.3(CLN8): c.70C> G (p.Arg24Gly) single nucleotide variant Pathogenic rs104894064 GRCh37 Chromosome 8, 1719290: 1719290
2 CLN8 NM_018941.3(CLN8): c.70C> G (p.Arg24Gly) single nucleotide variant Pathogenic rs104894064 GRCh38 Chromosome 8, 1771124: 1771124
3 CLN8 NM_018941.3(CLN8): c.789G> C (p.Trp263Cys) single nucleotide variant Pathogenic rs28940569 GRCh37 Chromosome 8, 1728661: 1728661
4 CLN8 NM_018941.3(CLN8): c.789G> C (p.Trp263Cys) single nucleotide variant Pathogenic rs28940569 GRCh38 Chromosome 8, 1780495: 1780495
5 CLN8 NM_018941.3(CLN8): c.610C> T (p.Arg204Cys) single nucleotide variant Likely pathogenic rs104894060 GRCh37 Chromosome 8, 1728482: 1728482
6 CLN8 NM_018941.3(CLN8): c.610C> T (p.Arg204Cys) single nucleotide variant Likely pathogenic rs104894060 GRCh38 Chromosome 8, 1780316: 1780316
7 CLN8 CLN8, 1-BP DEL, 88G deletion Pathogenic
8 CLN8 NM_018941.3(CLN8): c.88G> C (p.Ala30Pro) single nucleotide variant Pathogenic rs137852883 GRCh37 Chromosome 8, 1719308: 1719308
9 CLN8 NM_018941.3(CLN8): c.88G> C (p.Ala30Pro) single nucleotide variant Pathogenic rs137852883 GRCh38 Chromosome 8, 1771142: 1771142
10 CLN8 CLN8, 1-BP DEL, 66G deletion Pathogenic
11 CLN8 CLN8, 3-BP DEL, 180GAA deletion Pathogenic
12 CLN8 NM_018941.3(CLN8): c.180_182delGAA (p.Lys61del) deletion Likely pathogenic rs386834123 GRCh37 Chromosome 8, 1719400: 1719402
13 CLN8 NM_018941.3(CLN8): c.180_182delGAA (p.Lys61del) deletion Likely pathogenic rs386834123 GRCh38 Chromosome 8, 1771234: 1771236
14 CLN8 NM_018941.3(CLN8): c.227A> G (p.Gln76Arg) single nucleotide variant Likely pathogenic rs386834125 GRCh37 Chromosome 8, 1719447: 1719447
15 CLN8 NM_018941.3(CLN8): c.227A> G (p.Gln76Arg) single nucleotide variant Likely pathogenic rs386834125 GRCh38 Chromosome 8, 1771281: 1771281
16 CLN8 NM_018941.3(CLN8): c.320T> G (p.Ile107Ser) single nucleotide variant Likely pathogenic rs386834126 GRCh37 Chromosome 8, 1719540: 1719540
17 CLN8 NM_018941.3(CLN8): c.320T> G (p.Ile107Ser) single nucleotide variant Likely pathogenic rs386834126 GRCh38 Chromosome 8, 1771374: 1771374
18 CLN8 NM_018941.3(CLN8): c.415C> T (p.His139Tyr) single nucleotide variant Likely pathogenic rs386834127 GRCh37 Chromosome 8, 1719635: 1719635
19 CLN8 NM_018941.3(CLN8): c.415C> T (p.His139Tyr) single nucleotide variant Likely pathogenic rs386834127 GRCh38 Chromosome 8, 1771469: 1771469
20 CLN8 NM_018941.3(CLN8): c.464C> T (p.Ala155Val) single nucleotide variant Likely pathogenic rs386834128 GRCh37 Chromosome 8, 1719684: 1719684
21 CLN8 NM_018941.3(CLN8): c.464C> T (p.Ala155Val) single nucleotide variant Likely pathogenic rs386834128 GRCh38 Chromosome 8, 1771518: 1771518
22 CLN8 NM_018941.3(CLN8): c.473A> G (p.Tyr158Cys) single nucleotide variant Likely pathogenic rs386834130 GRCh37 Chromosome 8, 1719693: 1719693
23 CLN8 NM_018941.3(CLN8): c.473A> G (p.Tyr158Cys) single nucleotide variant Likely pathogenic rs386834130 GRCh38 Chromosome 8, 1771527: 1771527
24 CLN8 NM_018941.3(CLN8): c.507C> T (p.Ser169=) single nucleotide variant Likely pathogenic rs386834131 GRCh37 Chromosome 8, 1719727: 1719727
25 CLN8 NM_018941.3(CLN8): c.507C> T (p.Ser169=) single nucleotide variant Likely pathogenic rs386834131 GRCh38 Chromosome 8, 1771561: 1771561
26 CLN8 NM_018941.3(CLN8): c.509C> T (p.Thr170Met) single nucleotide variant Likely pathogenic rs188259026 GRCh37 Chromosome 8, 1719729: 1719729
27 CLN8 NM_018941.3(CLN8): c.509C> T (p.Thr170Met) single nucleotide variant Likely pathogenic rs188259026 GRCh38 Chromosome 8, 1771563: 1771563
28 CLN8 NM_018941.3(CLN8): c.562_563delCT (p.Leu188Valfs) deletion Likely pathogenic rs386834132 GRCh37 Chromosome 8, 1728434: 1728435
29 CLN8 NM_018941.3(CLN8): c.562_563delCT (p.Leu188Valfs) deletion Likely pathogenic rs386834132 GRCh38 Chromosome 8, 1780268: 1780269
30 CLN8 NM_018941.3(CLN8): c.581A> G (p.Gln194Arg) single nucleotide variant Likely pathogenic rs386834133 GRCh37 Chromosome 8, 1728453: 1728453
31 CLN8 NM_018941.3(CLN8): c.581A> G (p.Gln194Arg) single nucleotide variant Likely pathogenic rs386834133 GRCh38 Chromosome 8, 1780287: 1780287
32 CLN8 NM_018941.3(CLN8): c.637_639delTGG (p.Trp213del) deletion Likely pathogenic rs386834135 GRCh37 Chromosome 8, 1728509: 1728511
33 CLN8 NM_018941.3(CLN8): c.637_639delTGG (p.Trp213del) deletion Likely pathogenic rs386834135 GRCh38 Chromosome 8, 1780343: 1780345
34 CLN8 NM_018941.3(CLN8): c.66delG (p.Ile23Serfs) deletion Likely pathogenic rs386834137 GRCh37 Chromosome 8, 1719286: 1719286
35 CLN8 NM_018941.3(CLN8): c.66delG (p.Ile23Serfs) deletion Likely pathogenic rs386834137 GRCh38 Chromosome 8, 1771120: 1771120
36 CLN8 NM_018941.3(CLN8): c.766C> G (p.Gln256Glu) single nucleotide variant Likely pathogenic rs386834138 GRCh37 Chromosome 8, 1728638: 1728638
37 CLN8 NM_018941.3(CLN8): c.766C> G (p.Gln256Glu) single nucleotide variant Likely pathogenic rs386834138 GRCh38 Chromosome 8, 1780472: 1780472
38 CLN8 NM_018941.3(CLN8): c.88delG (p.Ala30Leufs) deletion Likely pathogenic rs386834139 GRCh37 Chromosome 8, 1719308: 1719308
39 CLN8 NM_018941.3(CLN8): c.88delG (p.Ala30Leufs) deletion Likely pathogenic rs386834139 GRCh38 Chromosome 8, 1771142: 1771142
40 CLN8 NM_018941.3(CLN8): c.792C> G (p.Asn264Lys) single nucleotide variant Pathogenic rs587779411 GRCh37 Chromosome 8, 1728664: 1728664
41 CLN8 NM_018941.3(CLN8): c.792C> G (p.Asn264Lys) single nucleotide variant Pathogenic rs587779411 GRCh38 Chromosome 8, 1780498: 1780498
42 CLN8 NM_018941.3(CLN8): c.709G> A (p.Gly237Arg) single nucleotide variant Likely pathogenic rs746645358 GRCh37 Chromosome 8, 1728581: 1728581
43 CLN8 NM_018941.3(CLN8): c.709G> A (p.Gly237Arg) single nucleotide variant Likely pathogenic rs746645358 GRCh38 Chromosome 8, 1780415: 1780415
44 CLN8 NM_018941.3(CLN8): c.806A> T (p.Glu269Val) single nucleotide variant Conflicting interpretations of pathogenicity rs139003032 GRCh37 Chromosome 8, 1728678: 1728678
45 CLN8 NM_018941.3(CLN8): c.806A> T (p.Glu269Val) single nucleotide variant Conflicting interpretations of pathogenicity rs139003032 GRCh38 Chromosome 8, 1780512: 1780512
46 CLN8 NM_018941.3(CLN8): c.50A> G (p.Asp17Gly) single nucleotide variant Uncertain significance rs148668081 GRCh38 Chromosome 8, 1771104: 1771104
47 CLN8 NM_018941.3(CLN8): c.50A> G (p.Asp17Gly) single nucleotide variant Uncertain significance rs148668081 GRCh37 Chromosome 8, 1719270: 1719270
48 CLN8 NM_018941.3(CLN8): c.470A> G (p.His157Arg) single nucleotide variant Likely pathogenic rs149308952 GRCh38 Chromosome 8, 1771524: 1771524
49 CLN8 NM_018941.3(CLN8): c.470A> G (p.His157Arg) single nucleotide variant Likely pathogenic rs149308952 GRCh37 Chromosome 8, 1719690: 1719690
50 CLN8 NM_018941.3(CLN8): c.212C> T (p.Ala71Val) single nucleotide variant no interpretation for the single variant rs863224859 GRCh38 Chromosome 8, 1771266: 1771266

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 10.71 CLN5 MFSD8

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

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 9.26 CLN6 CLN8
2 lysosome organization GO:0007040 9.16 CLN6 MFSD8
3 lysosomal lumen acidification GO:0007042 8.96 CLN5 CLN6
4 protein catabolic process GO:0030163 8.8 CLN5 CLN6 CLN8

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

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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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