MCID: CRD075
MIFTS: 42

Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant

Categories: Genetic diseases, Rare diseases, Mental diseases, Neuronal diseases, Metabolic 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 53 71 28 13
Northern Epilepsy 53 49 55 51
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type 12 49 55
Epmr 53 12 71
Neuronal Ceroid Lipofuscinosis 8 Northern Epilepsy Variant 12 14
Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant 49 55
Cln8 Disease, Northern Epilepsy Variant 49 55
Ceroid Lipofuscinosis Neuronal 8 49 28
Ncl, Northern Epilepsy Variant 49 55
Northern Epilepsy Syndrome 72 69
Northern Epilepsy Variant, Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant 12
Progressive Epilepsy with Mental Retardation, Northern Epilepsy 12
Progressive Epilepsy - Intellectual Disability, Finnish Type 49
Epilepsy, Progressive, with Mental Retardation; Epmr 53
Epilepsy, Progressive, with Mental Retardation 53
Progressive Epilepsy with Mental Retardation 71
Ceroid Lipofuscinosis, Neuronal, 8 69
Neuronal Ceroid Lipofuscinosis 8 49
Cln8 Disease, Late Infantile 49
Cln8 Disease, Epmr 49
Cln8ne 71
Cln8 49

Characteristics:

Orphanet epidemiological data:

55
progressive epilepsy-intellectual disability syndrome, finnish type
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

53
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:

31
ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 610003
Disease Ontology 12 DOID:0110724
ICD10 32 E75.4
Orphanet 55 ORPHA1947
UMLS via Orphanet 70 C1864923
ICD10 via Orphanet 33 E75.4
MedGen 39 C1864923
MeSH 41 D009472

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

NIH Rare Diseases : 49 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. Last updated: 9/7/2015

MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant, also known as northern epilepsy, is related to ceroid lipofuscinosis, neuronal, 13 and ceroid lipofuscinosis, neuronal, 1, and has symptoms including clumsiness, restlessness and intellectual disability. 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 nervous system and vision/eye

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 : 53 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 : 71 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 : 72 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:

53
Neurologic Central Nervous System:
clumsiness
generalized tonic-clonic seizures
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:

55 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 clumsiness 55 31 hallmark (90%) Very frequent (99-80%) HP:0002312
2 restlessness 55 31 hallmark (90%) Very frequent (99-80%) HP:0000711
3 intellectual disability 55 31 frequent (33%) Frequent (79-30%) HP:0001249
4 eeg abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0002353
5 developmental regression 55 31 frequent (33%) Frequent (79-30%) HP:0002376
6 progressive visual loss 55 31 hallmark (90%) Very frequent (99-80%) HP:0000529
7 generalized tonic-clonic seizures 55 31 hallmark (90%) Very frequent (99-80%) HP:0002069
8 psychosis 55 31 frequent (33%) Frequent (79-30%) HP:0000709
9 mental deterioration 55 31 frequent (33%) Frequent (79-30%) HP:0001268
10 focal seizures with impairment of consciousness or awareness 55 31 hallmark (90%) Very frequent (99-80%) HP:0002384
11 behavioral abnormality 55 Very frequent (99-80%)
12 irritability 31 HP:0000737
13 cerebellar atrophy 31 HP:0001272
14 cerebral atrophy 31 HP:0002059
15 increased neuronal autofluorescent lipopigment 31 HP:0002074
16 curvilinear intracellular accumulation of autofluorescent lipopigment storage material 31 HP:0003205

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


restlessness, clumsiness, seizures, myoclonus, ataxia

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.35 CLN5 CLN6 CLN8 MFSD8 VWA1
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 28 CLN8
2 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 28 CLN8

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

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

38
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 novel form of neuronal ceroid-lipofuscinosis. ( 10764041 )
2000
5
Northern epilepsy, a new member of the NCL family. ( 11073227 )
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:

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 CLN8 NM_018941.3(CLN8): c.792C> G (p.Asn264Lys) single nucleotide variant Pathogenic rs587779411 GRCh37 Chromosome 8, 1728664: 1728664
2 CLN8 NM_018941.3(CLN8): c.70C> G (p.Arg24Gly) single nucleotide variant Pathogenic rs104894064 GRCh37 Chromosome 8, 1719290: 1719290
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.610C> T (p.Arg204Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104894060 GRCh37 Chromosome 8, 1728482: 1728482
5 CLN8 CLN8, 1-BP DEL, 88G deletion Pathogenic
6 CLN8 NM_018941.3(CLN8): c.88G> C (p.Ala30Pro) single nucleotide variant Pathogenic rs137852883 GRCh37 Chromosome 8, 1719308: 1719308
7 CLN8 CLN8, 1-BP DEL, 66G deletion Pathogenic
8 CLN8 CLN8, 3-BP DEL, 180GAA deletion Pathogenic

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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