CLN8NE
MCID: CRD075
MIFTS: 47

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

Categories: Eye diseases, Fetal 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 57 72 29 13 6
Northern Epilepsy 57 20 58 54 6
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type 12 20 58
Epmr 57 12 72
Neuronal Ceroid Lipofuscinosis 8 Northern Epilepsy Variant 12 15
Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant 20 58
Cln8 Disease, Northern Epilepsy Variant 20 58
Ncl, Northern Epilepsy Variant 20 58
Northern Epilepsy Syndrome 73 70
Northern Epilepsy Variant, Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant 12
Progressive Epilepsy with Mental Retardation, Northern Epilepsy 12
Progressive Epilepsy - Intellectual Disability, Finnish Type 20
Epilepsy, Progressive, with Mental Retardation; Epmr 57
Epilepsy, Progressive, with Mental Retardation 57
Progressive Epilepsy with Mental Retardation 72
Ceroid Lipofuscinosis, Neuronal, 8 70
Neuronal Ceroid Lipofuscinosis 8 20
Ceroid Lipofuscinosis Neuronal 8 20
Cln8 Disease, Late Infantile 20
Cln8 Disease, Epmr 20
Cln8ne 72
Cln8 20

Characteristics:

Orphanet epidemiological data:

58
progressive epilepsy-intellectual disability syndrome, finnish type
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
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:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0110724
OMIM® 57 610003
OMIM Phenotypic Series 57 PS256730
MeSH 44 D009472
ICD10 32 E75.4
ICD10 via Orphanet 33 E75.4
UMLS via Orphanet 71 C1864923
Orphanet 58 ORPHA1947
MedGen 41 C1864923
UMLS 70 C1838570 C1864923

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

GARD : 20 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, 6 and epilepsy, 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 eye and breast, 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® : 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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 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

Diseases related to Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 6 32.3 MFSD8 CLN8 CLN6 CLN5
2 epilepsy 31.4 KCTD7 CLN8 CLN6 CLN5 CLN3
3 central core myopathy 31.4 PPT1 CLN8
4 epilepsy, idiopathic generalized 5 31.3 KCTD7 CLN8
5 neuronal ceroid-lipofuscinoses 31.0 PPT1 MFSD8 DNAJC5 CLN8 CLN6 CLN5
6 early myoclonic encephalopathy 31.0 KCTD7 CLN8 CLN6
7 lipid storage disease 30.8 PPT1 CLN8 CLN6 CLN5 CLN3
8 ceroid lipofuscinosis, neuronal, 2 30.7 PPT1 MFSD8 DNAJC5 CLN8 CLN6 CLN5
9 progressive myoclonus epilepsy 3 30.6 PPT1 MFSD8 KCTD7 CLN8 CLN6
10 ceroid lipofuscinosis, neuronal, 1 30.4 PPT1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
11 ceroid lipofuscinosis, neuronal, 9 30.3 MFSD8 KCTD7 DNAJC5 CLN8 CLN6 CLN5
12 ceroid lipofuscinosis, neuronal, 3 30.2 PPT1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
13 neuronal ceroid lipofuscinosis 30.2 PPT1 MFSD8 KCTD7 ERG28 DNAJC5 CLN8
14 ceroid lipofuscinosis, neuronal, 7 30.0 PPT1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
15 ceroid lipofuscinosis, neuronal, 10 29.9 PPT1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
16 ceroid lipofuscinosis, neuronal, 13 29.9 PPT1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
17 ceroid lipofuscinosis, neuronal, 11 29.9 PPT1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
18 lysosomal storage disease 29.9 PPT1 CLN6 CLN5 CLN3
19 spinocerebellar ataxia, autosomal recessive 7 29.9 PPT1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
20 visual epilepsy 29.5 PPT1 MFSD8 KCTD7 ERG28 DNAJC5 CLN8
21 progressive myoclonus epilepsy 29.3 KCTD7 CLN6 CLN5 CLN3
22 ceroid lipofuscinosis, neuronal, 8 11.8
23 autism spectrum disorder 11.0
24 combined oxidative phosphorylation deficiency 32 10.8
25 hypertrophy of breast 10.8
26 complex partial epilepsy 10.8
27 disease of mental health 10.8
28 myoclonus 10.2
29 ataxia and polyneuropathy, adult-onset 10.2
30 peripheral retinal degeneration 10.1 CLN5 CLN3
31 mannosidosis, alpha b, lysosomal 10.1 MFSD8 CLN6
32 yemenite deaf-blind hypopigmentation syndrome 10.1
33 pathologic nystagmus 10.1
34 dysphagia 10.1
35 nervous system disease 10.1
36 aspartylglucosaminuria 10.1 CLN6 CLN5 CLN3
37 glycoproteinosis 10.0 CLN6 CLN3
38 autosomal recessive disease 10.0
39 retinal degeneration 10.0
40 gm2 gangliosidosis 10.0 CLN6 CLN3
41 adult neuronal ceroid lipofuscinosis 10.0 PPT1 DNAJC5 CLN6
42 progressive myoclonus epilepsy 1b 10.0 MFSD8 KCTD7
43 progressive myoclonus epilepsy 1a 10.0 PPT1 KCTD7
44 gm1 gangliosidosis 9.9 CLN6 CLN3
45 autism 9.8
46 ceroid lipofuscinosis, neuronal, 5 9.8
47 metabolic acidosis 9.8
48 telangiectasis 9.8
49 gaucher's disease 9.8
50 wallerian degeneration 9.8

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:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
2 progressive visual loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0000529
3 restlessness 58 31 hallmark (90%) Very frequent (99-80%) HP:0000711
4 clumsiness 58 31 hallmark (90%) Very frequent (99-80%) HP:0002312
5 focal impaired awareness seizure 58 31 hallmark (90%) Very frequent (99-80%) HP:0002384
6 bilateral tonic-clonic seizure 31 hallmark (90%) HP:0002069
7 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
8 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
9 mental deterioration 58 31 frequent (33%) Frequent (79-30%) HP:0001268
10 psychosis 58 31 frequent (33%) Frequent (79-30%) HP:0000709
11 behavioral abnormality 58 Very frequent (99-80%)
12 irritability 31 HP:0000737
13 generalized tonic-clonic seizures 58 Very frequent (99-80%)
14 cerebellar atrophy 31 HP:0001272
15 cerebral atrophy 31 HP:0002059
16 increased neuronal autofluorescent lipopigment 31 HP:0002074
17 curvilinear intracellular accumulation of autofluorescent lipopigment storage material 31 HP:0003205

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Behavioral Psychiatric Manifestations:
restlessness
irritability beginning at puberty
inattentiveness

Laboratory Abnormalities:
intracellular curvilinear profiles on ultrastructural analysis
intracellular granular material on ultrastructural analysis

Neurologic Central Nervous System:
generalized tonic-clonic seizures
clumsiness
autofluorescent lipopigment in neurons
eeg abnormalities
cerebral atrophy, progressive
more

Clinical features from OMIM®:

610003 (Updated 20-May-2021)

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


seizures; ataxia; myoclonus; restlessness; clumsiness

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.81 CLN3 CLN6 CLN8 DLGAP2 DNAJC5 KCTD7
2 nervous system MP:0003631 9.61 CLN3 CLN5 CLN6 CLN8 DLGAP2 DNAJC5
3 vision/eye MP:0005391 9.17 CLN3 CLN5 CLN6 CLN8 DNAJC5 MFSD8

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Endoscopic Posterior Mesorectal Resection in T1 Rectal Cancer Terminated NCT00531297

Search 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, 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:

40
Eye, Breast

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

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

(show all 38)
# Title Authors PMID Year
1
Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. 61 54 6 57
15024724 2004
2
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. 57 6
10508524 1999
3
Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells. 61 6 54
15160397 2004
4
Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8. 6 61
11589000 2001
5
Northern epilepsy: a novel form of neuronal ceroid-lipofuscinosis. 57 61
10764041 2000
6
Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration. 61 57
8014963 1994
7
CLN8 disease caused by large genomic deletions. 6
28116333 2017
8
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. 6
26075876 2015
9
Clinical exome sequencing for genetic identification of rare Mendelian disorders. 6
25326637 2014
10
Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion. 6
22220808 2012
11
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 6
21990111 2012
12
Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. 6
19807737 2010
13
A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function. 6
19431184 2009
14
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 6
19201763 2009
15
Molecular genetics of the NCLs -- status and perspectives. 6
16828266 2006
16
Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean. 6
16570191 2006
17
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. 57
15965709 2005
18
Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies. 6
15074367 2004
19
The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. 6
10861296 2000
20
Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p. 57
8743986 1996
21
The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8. 57
8041778 1994
22
Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy. 61
27844444 2017
23
Seizure susceptibility, phenotype, and resultant growth delay in the nclf and mnd mouse models of neuronal ceroid lipofuscinoses. 61
23838029 2013
24
Late infantile neuronal ceroid lipofuscinosis: a new mutation in Arabs. 61
19748052 2009
25
Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations. 61
17129765 2007
26
Current state of clinical and morphological features in human NCL. 61
14997938 2004
27
[Northern epilepsy and the gene error behind it]. 61
12244629 2002
28
Neuronal Ceroid-Lipofuscinoses – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301601 2001
29
Pheno/genotypic correlations of neuronal ceroid lipofuscinoses. 61
11548735 2001
30
Clinical and neuroradiological diagnostic aspects of neuronal ceroid lipofuscinoses disorders. 61
11588989 2001
31
Northern epilepsy syndrome (NES, CLN8)--MRI and electrophysiological studies. 61
11588991 2001
32
Studies of homogenous populations: CLN5 and CLN8. 61
11332769 2001
33
Hippocampal lesions in the neuronal ceroid lipofuscinoses. 61
11588999 2001
34
Northern epilepsy, a new member of the NCL family. 61
11073227 2000
35
Neurophysiological findings in the northern epilepsy syndrome. 61
9048977 1997
36
Northern epilepsy syndrome: clinical course and the effect of medication on seizures. 61
7635097 1995
37
Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2. 61
7647781 1995
38
Neuroradiological findings in the northern epilepsy syndrome. 61
7892756 1994

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

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

6 (show top 50) (show all 75)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLN8 NM_018941.3(CLN8):c.70C>G (p.Arg24Gly) SNV Pathogenic 2802 rs104894064 GRCh37: 8:1719290-1719290
GRCh38: 8:1771124-1771124
2 CLN8 NM_018941.3(CLN8):c.789G>C (p.Trp263Cys) SNV Pathogenic 2803 rs28940569 GRCh37: 8:1728661-1728661
GRCh38: 8:1780495-1780495
3 CLN8 NM_018941.3(CLN8):c.88G>C (p.Ala30Pro) SNV Pathogenic 2806 rs137852883 GRCh37: 8:1719308-1719308
GRCh38: 8:1771142-1771142
4 CLN8 NM_018941.3(CLN8):c.209G>A (p.Arg70His) SNV Pathogenic 56704 rs386834124 GRCh37: 8:1719429-1719429
GRCh38: 8:1771263-1771263
5 CLN8 NM_018941.4(CLN8):c.792C>G (p.Asn264Lys) SNV Pathogenic 100736 rs587779411 GRCh37: 8:1728664-1728664
GRCh38: 8:1780498-1780498
6 CLN8 NM_018941.3(CLN8):c.70C>G (p.Arg24Gly) SNV Pathogenic 2802 rs104894064 GRCh37: 8:1719290-1719290
GRCh38: 8:1771124-1771124
7 CLN8 NM_018941.3(CLN8):c.1A>G (p.Met1Val) SNV Pathogenic 487522 rs143730802 GRCh37: 8:1719221-1719221
GRCh38: 8:1771055-1771055
8 CLN8 NM_018941.3(CLN8):c.88del (p.Ala30fs) Deletion Pathogenic/Likely pathogenic 56720 rs386834139 GRCh37: 8:1719308-1719308
GRCh38: 8:1771142-1771142
9 CLN8 NM_018941.3(CLN8):c.181_183del (p.Lys61del) Deletion Pathogenic/Likely pathogenic 56703 rs386834123 GRCh37: 8:1719399-1719401
GRCh38: 8:1771233-1771235
10 CLN8 NM_018941.3(CLN8):c.610C>T (p.Arg204Cys) SNV Pathogenic/Likely pathogenic 2804 rs104894060 GRCh37: 8:1728482-1728482
GRCh38: 8:1780316-1780316
11 CLN8 NM_018941.3(CLN8):c.66del (p.Ile23fs) Deletion Pathogenic/Likely pathogenic 56718 rs34238807 GRCh37: 8:1719282-1719282
GRCh38: 8:1771116-1771116
12 CLN8 NM_018941.3(CLN8):c.766C>G (p.Gln256Glu) SNV Likely pathogenic 56719 rs386834138 GRCh37: 8:1728638-1728638
GRCh38: 8:1780472-1780472
13 CLN8 NM_018941.3(CLN8):c.473A>G (p.Tyr158Cys) SNV Likely pathogenic 56710 rs386834130 GRCh37: 8:1719693-1719693
GRCh38: 8:1771527-1771527
14 CLN8 NM_018941.3(CLN8):c.509C>T (p.Thr170Met) SNV Likely pathogenic 56712 rs188259026 GRCh37: 8:1719729-1719729
GRCh38: 8:1771563-1771563
15 CLN8 NM_018941.3(CLN8):c.562_563delCT Microsatellite Likely pathogenic 56713 rs386834132 GRCh37: 8:1728431-1728432
GRCh38: 8:1780265-1780266
16 CLN8 NM_018941.3(CLN8):c.581A>G (p.Gln194Arg) SNV Likely pathogenic 56714 rs386834133 GRCh37: 8:1728453-1728453
GRCh38: 8:1780287-1780287
17 CLN8 NM_018941.3(CLN8):c.611G>T (p.Arg204Leu) SNV Likely pathogenic 56715 rs386834134 GRCh37: 8:1728483-1728483
GRCh38: 8:1780317-1780317
18 CLN8 NM_018941.3(CLN8):c.637_639delTGG Microsatellite Likely pathogenic 56716 rs386834135 GRCh37: 8:1728505-1728507
GRCh38: 8:1780339-1780341
19 CLN8 NM_018941.3(CLN8):c.661G>A (p.Gly221Ser) SNV Likely pathogenic 56717 rs386834136 GRCh37: 8:1728533-1728533
GRCh38: 8:1780367-1780367
20 CLN8 NM_018941.3(CLN8):c.227A>G (p.Gln76Arg) SNV Likely pathogenic 56705 rs386834125 GRCh37: 8:1719447-1719447
GRCh38: 8:1771281-1771281
21 CLN8 NM_018941.3(CLN8):c.320T>G (p.Ile107Ser) SNV Likely pathogenic 56706 rs386834126 GRCh37: 8:1719540-1719540
GRCh38: 8:1771374-1771374
22 CLN8 NM_018941.3(CLN8):c.415C>T (p.His139Tyr) SNV Likely pathogenic 56707 rs386834127 GRCh37: 8:1719635-1719635
GRCh38: 8:1771469-1771469
23 CLN8 NM_018941.3(CLN8):c.464C>T (p.Ala155Val) SNV Likely pathogenic 56708 rs386834128 GRCh37: 8:1719684-1719684
GRCh38: 8:1771518-1771518
24 CLN8 NM_018941.3(CLN8):c.263del (p.Asp88fs) Deletion Likely pathogenic 370553 rs1057516582 GRCh37: 8:1719483-1719483
GRCh38: 8:1771317-1771317
25 CLN8 NM_018941.3(CLN8):c.543+1G>T SNV Likely pathogenic 371199 rs756267448 GRCh37: 8:1719764-1719764
GRCh38: 8:1771598-1771598
26 CLN8 NM_018941.3(CLN8):c.709G>A (p.Gly237Arg) SNV Likely pathogenic 188917 rs746645358 GRCh37: 8:1728581-1728581
GRCh38: 8:1780415-1780415
27 CLN8 NM_018941.3(CLN8):c.562_563delCT Microsatellite Likely pathogenic 56713 rs386834132 GRCh37: 8:1728431-1728432
GRCh38: 8:1780265-1780266
28 CLN8 NM_018941.4(CLN8):c.792C>G (p.Asn264Lys) SNV Likely pathogenic 217887 rs587779411 GRCh37: 8:1728664-1728664
GRCh38: 8:1780498-1780498
29 CLN8 NM_018941.3(CLN8):c.47del (p.Leu16fs) Deletion Likely pathogenic 370918 rs1057516867 GRCh37: 8:1719267-1719267
GRCh38: 8:1771101-1771101
30 CLN8 NM_018941.3(CLN8):c.499G>T (p.Glu167Ter) SNV Likely pathogenic 205194 rs144495588 GRCh37: 8:1719719-1719719
GRCh38: 8:1771553-1771553
31 CLN8 NM_018941.3(CLN8):c.306G>A (p.Trp102Ter) SNV Likely pathogenic 551061 rs1554449124 GRCh37: 8:1719526-1719526
GRCh38: 8:1771360-1771360
32 CLN8 NM_018941.3(CLN8):c.544-2A>G SNV Likely pathogenic 552952 rs1554451484 GRCh37: 8:1728414-1728414
GRCh38: 8:1780248-1780248
33 CLN8 NM_018941.3(CLN8):c.283A>T (p.Lys95Ter) SNV Likely pathogenic 555198 rs759830733 GRCh37: 8:1719503-1719503
GRCh38: 8:1771337-1771337
34 CLN8 NM_018941.3(CLN8):c.594del (p.His199fs) Deletion Likely pathogenic 555267 rs1554451504 GRCh37: 8:1728465-1728465
GRCh38: 8:1780299-1780299
35 CLN8 NM_018941.3(CLN8):c.2T>C (p.Met1Thr) SNV Likely pathogenic 555468 rs1554448874 GRCh37: 8:1719222-1719222
GRCh38: 8:1771056-1771056
36 CLN8 NM_018941.3(CLN8):c.50del (p.Asp17fs) Deletion Likely pathogenic 555573 rs1554448924 GRCh37: 8:1719270-1719270
GRCh38: 8:1771104-1771104
37 CLN8 NM_018941.3(CLN8):c.312G>A (p.Trp104Ter) SNV Likely pathogenic 556335 rs1554449136 GRCh37: 8:1719532-1719532
GRCh38: 8:1771366-1771366
38 CLN8 NM_018941.3(CLN8):c.226C>T (p.Gln76Ter) SNV Likely pathogenic 556399 rs1554449047 GRCh37: 8:1719446-1719446
GRCh38: 8:1771280-1771280
39 CLN8 NM_018941.3(CLN8):c.470A>G (p.His157Arg) SNV Likely pathogenic 210736 rs149308952 GRCh37: 8:1719690-1719690
GRCh38: 8:1771524-1771524
40 CLN8 NM_018941.3(CLN8):c.204del (p.Thr69fs) Deletion Likely pathogenic 556933 rs1554449028 GRCh37: 8:1719423-1719423
GRCh38: 8:1771257-1771257
41 CLN8 NM_018941.3(CLN8):c.398T>A (p.Leu133Ter) SNV Likely pathogenic 558034 rs554042394 GRCh37: 8:1719618-1719618
GRCh38: 8:1771452-1771452
42 CLN8 NM_018941.3(CLN8):c.763C>T (p.Gln255Ter) SNV Likely pathogenic 558594 rs746397087 GRCh37: 8:1728635-1728635
GRCh38: 8:1780469-1780469
43 CLN8 NM_018941.3(CLN8):c.610C>T (p.Arg204Cys) SNV Likely pathogenic 2804 rs104894060 GRCh37: 8:1728482-1728482
GRCh38: 8:1780316-1780316
44 CLN8 NM_018941.3(CLN8):c.374A>G (p.Asn125Ser) SNV Conflicting interpretations of pathogenicity 205207 rs142269885 GRCh37: 8:1719594-1719594
GRCh38: 8:1771428-1771428
45 CLN8 NM_018941.3(CLN8):c.614T>C (p.Met205Thr) SNV Uncertain significance 527739 rs763967636 GRCh37: 8:1728486-1728486
GRCh38: 8:1780320-1780320
46 CLN8 NM_018941.3(CLN8):c.806A>T (p.Glu269Val) SNV Uncertain significance 196493 rs139003032 GRCh37: 8:1728678-1728678
GRCh38: 8:1780512-1780512
47 CLN8 NM_018941.3(CLN8):c.806A>T (p.Glu269Val) SNV Uncertain significance 196493 rs139003032 GRCh37: 8:1728678-1728678
GRCh38: 8:1780512-1780512
48 CLN8 NM_018941.3(CLN8):c.98T>C (p.Val33Ala) SNV Uncertain significance 626088 rs1301388199 GRCh37: 8:1719318-1719318
GRCh38: 8:1771152-1771152
49 CLN8 NM_018941.3(CLN8):c.779C>T (p.Pro260Leu) SNV Uncertain significance 205196 rs146579299 GRCh37: 8:1728651-1728651
GRCh38: 8:1780485-1780485
50 CLN8 NM_018941.3(CLN8):c.779C>T (p.Pro260Leu) SNV Uncertain significance 205196 rs146579299 GRCh37: 8:1728651-1728651
GRCh38: 8:1780485-1780485

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

72
# Symbol AA change Variation ID SNP ID
1 CLN8 p.Arg24Gly VAR_013174 rs104894064

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 11.03 PPT1 MFSD8 CLN5 CLN3

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 9.73 TRAM1 ERG28 CLN8 CLN6 CLN5 CLN3
2 membrane raft GO:0045121 9.5 PPT1 CLN6 CLN3
3 lysosome GO:0005764 9.46 PPT1 MFSD8 CLN5 CLN3
4 synaptic vesicle GO:0008021 9.13 PPT1 DNAJC5 CLN3
5 lysosomal membrane GO:0005765 8.92 MFSD8 DNAJC5 CLN5 CLN3

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.67 PPT1 CLN8 CLN6
2 negative regulation of neuron apoptotic process GO:0043524 9.61 PPT1 DNAJC5 CLN3
3 protein catabolic process GO:0030163 9.56 PPT1 CLN8 CLN6 CLN5
4 neurotransmitter secretion GO:0007269 9.54 PPT1 DNAJC5
5 adult locomotory behavior GO:0008344 9.52 PPT1 CLN8
6 neuromuscular process controlling balance GO:0050885 9.51 CLN8 CLN3
7 associative learning GO:0008306 9.5 PPT1 CLN8 CLN3
8 autophagosome maturation GO:0097352 9.48 MFSD8 CLN3
9 negative regulation of proteolysis GO:0045861 9.46 CLN8 CLN3
10 cellular protein catabolic process GO:0044257 9.4 PPT1 CLN8
11 positive regulation of pinocytosis GO:0048549 9.37 PPT1 CLN3
12 cellular macromolecule catabolic process GO:0044265 9.33 PPT1 CLN8 CLN6
13 lysosomal lumen acidification GO:0007042 9.26 PPT1 CLN6 CLN5 CLN3
14 lysosome organization GO:0007040 9.1 PPT1 MFSD8 CLN8 CLN6 CLN5 CLN3

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

# Name GO ID Score Top Affiliating Genes
1 lysophosphatidic acid binding GO:0035727 8.96 PPT1 CLN6
2 sulfatide binding GO:0120146 8.8 PPT1 CLN6 CLN3

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....