MCID: CRD075
MIFTS: 38

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 54 71 29 13
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type 12 50 56
Northern Epilepsy 50 56 52
Neuronal Ceroid Lipofuscinosis 8 Northern Epilepsy Variant 12 14
Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant 50 56
Cln8 Disease, Northern Epilepsy Variant 50 56
Ceroid Lipofuscinosis Neuronal 8 50 29
Ncl, Northern Epilepsy Variant 50 56
Epmr 12 71
Northern Epilepsy Variant, Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant 12
Progressive Epilepsy with Mental Retardation, Northern Epilepsy 12
Progressive Epilepsy - Intellectual Disability, Finnish Type 50
Progressive Epilepsy with Mental Retardation 71
Ceroid Lipofuscinosis, Neuronal, 8 69
Neuronal Ceroid Lipofuscinosis 8 50
Cln8 Disease, Late Infantile 50
Northern Epilepsy Syndrome 69
Cln8 Disease, Epmr 50
Cln8ne 71
Cln8 50

Characteristics:

Orphanet epidemiological data:

56
progressive epilepsy-intellectual disability syndrome, finnish type
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

54
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 54 610003
Disease Ontology 12 DOID:0110724
ICD10 33 E75.4
Orphanet 56 ORPHA1947
UMLS via Orphanet 70 C1864923
ICD10 via Orphanet 34 E75.4
MedGen 40 C1864923
MeSH 42 D009472

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

NIH Rare Diseases : 50 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 progressive epilepsy-intellectual disability syndrome, finnish type, is related to ceroid lipofuscinosis, neuronal, 8 and epilepsy, and has symptoms including progressive visual loss, intellectual disability and psychosis. 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. Related phenotypes are nervous system and vision/eye

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.

OMIM : 54
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)

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.

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:

54

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

56 32 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive visual loss 56 32 hallmark (90%) Very frequent (99-80%) HP:0000529
2 intellectual disability 56 32 frequent (33%) Frequent (79-30%) HP:0001249
3 psychosis 56 32 frequent (33%) Frequent (79-30%) HP:0000709
4 developmental regression 56 32 frequent (33%) Frequent (79-30%) HP:0002376
5 generalized tonic-clonic seizures 56 32 hallmark (90%) Very frequent (99-80%) HP:0002069
6 mental deterioration 56 32 frequent (33%) Frequent (79-30%) HP:0001268
7 restlessness 56 32 hallmark (90%) Very frequent (99-80%) HP:0000711
8 clumsiness 56 32 hallmark (90%) Very frequent (99-80%) HP:0002312
9 eeg abnormality 56 32 hallmark (90%) Very frequent (99-80%) HP:0002353
10 focal seizures with impairment of consciousness or awareness 56 32 hallmark (90%) Very frequent (99-80%) HP:0002384
11 cerebral atrophy 32 HP:0002059
12 irritability 32 HP:0000737
13 cerebellar atrophy 32 HP:0001272
14 behavioral abnormality 56 Very frequent (99-80%)
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:

44
id 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:

id Genetic test Affiliating Genes
1 Ceroid Lipofuscinosis Neuronal 8 29
2 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 29

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

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

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

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

71
id 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
id 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.789G> C (p.Trp263Cys) single nucleotide variant Pathogenic rs28940569 GRCh37 Chromosome 8, 1728661: 1728661
3 CLN8 NM_018941.3(CLN8): c.610C> T (p.Arg204Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104894060 GRCh37 Chromosome 8, 1728482: 1728482
4 CLN8 CLN8, 1-BP DEL, 88G deletion Pathogenic
5 CLN8 NM_018941.3(CLN8): c.88G> C (p.Ala30Pro) single nucleotide variant Pathogenic rs137852883 GRCh37 Chromosome 8, 1719308: 1719308
6 CLN8 CLN8, 1-BP DEL, 66G deletion Pathogenic
7 CLN8 CLN8, 3-BP DEL, 180GAA deletion Pathogenic
8 CLN8 NM_018941.3(CLN8): c.792C> G (p.Asn264Lys) single nucleotide variant Pathogenic rs587779411 GRCh37 Chromosome 8, 1728664: 1728664

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:

id 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:

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....