CLN8
MCID: CRD181
MIFTS: 38

Ceroid Lipofuscinosis, Neuronal, 8 (CLN8)

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

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 8

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 8:

Name: Ceroid Lipofuscinosis, Neuronal, 8 57 74 13 72
Neuronal Ceroid Lipofuscinosis 8 12 25 15
Cln8 57 12 74
Cln8 Disease 25 59
Lipofuscinosis, Ceroid, Neuronal, Type 8 40
Turkish Variant Late Infantile Ncl 74
Northern Epilepsy Syndrome 72

Characteristics:

Orphanet epidemiological data:

59
cln8 disease
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset age 2 to 7 years
most patients lose ambulation 2 years after onset
allelic disorder to northern epilepsy ()


HPO:

32
ceroid lipofuscinosis, neuronal, 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110723
MeSH 44 D009472
ICD10 33 E75.4
ICD10 via Orphanet 34 E75.4
UMLS via Orphanet 73 C1838570
Orphanet 59 ORPHA228354
MedGen 42 C1838570
UMLS 72 C1838570 C1864923

Summaries for Ceroid Lipofuscinosis, Neuronal, 8

Genetics Home Reference : 25 CLN8 disease is an inherited disorder that varies in severity and primarily affects the nervous system. The condition is generally separated into less-severe and more-severe forms, based on the types of signs and symptoms that develop and life expectancy. The less-severe form of CLN8 disease, sometimes referred to as Northern epilepsy, is characterized by recurrent seizures (epilepsy) and a decline in intellectual function that begins between ages 5 and 10. The seizures in this form may be resistant to treatment and are often the generalized tonic-clonic type, which involve muscle rigidity, convulsions, and loss of consciousness. Some people with this form of CLN8 disease also experience partial seizures, which do not cause a loss of consciousness. The seizures occur approximately one to two times per month until adolescence; by early adulthood the frequency decreases to about four to six times per year. By middle age, seizures become even less frequent. In addition to seizures, affected individuals experience a gradual decline in intellectual function and develop problems with coordination and balance. Vision problems may occur in early to mid-adulthood. Individuals with the less-severe form of CLN8 disease often live into late adulthood. The more-severe form of CLN8 disease typically begins between ages 2 and 7.The seizures in this form involve uncontrollable muscle jerks (myoclonic epilepsy). Individuals with the more-severe form have a more pronounced decline in intellectual function and usually lose the ability to speak. Vision loss is also common. People with this form of CLN8 disease have increasing difficulty walking and coordinating movements (ataxia), eventually becoming immobile. Individuals with the more-severe form of CLN8 disease usually survive only into late childhood or adolescence. CLN8 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which may also be collectively referred to as Batten disease. All these disorders affect the nervous system and typically cause worsening problems with vision, movement, and thinking ability. The different NCLs are distinguished by their genetic cause. Each disease type is given the designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to indicate its subtype.

MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 8, also known as neuronal ceroid lipofuscinosis 8, is related to ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant and ceroid lipofuscinosis, neuronal, 1, and has symptoms including seizures, ataxia and myoclonus. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 8 is CLN8 (CLN8 Transmembrane ER And ERGIC Protein). Affiliated tissues include eye, brain and liver, and related phenotypes are seizures and ataxia

Disease Ontology : 12 A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has material basis in homozygous or compound heterozygous 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). (600143)

UniProtKB/Swiss-Prot : 74 Ceroid lipofuscinosis, neuronal, 8: A form of neuronal ceroid lipofuscinosis with onset in childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 8 comprise mixed combinations of granular, curvilinear, and fingerprint profiles.

Related Diseases for Ceroid Lipofuscinosis, Neuronal, 8

Diseases in the Neuronal Ceroid Lipofuscinosis family:

Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant Ceroid Lipofuscinosis, Neuronal, 3
Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive Ceroid Lipofuscinosis, Neuronal, 2
Ceroid Lipofuscinosis, Neuronal, 1 Ceroid Lipofuscinosis, Neuronal, 5
Ceroid Lipofuscinosis, Neuronal, 8 Ceroid Lipofuscinosis, Neuronal, 6
Ceroid Lipofuscinosis, Neuronal, 9 Ceroid Lipofuscinosis, Neuronal, 10
Ceroid Lipofuscinosis, Neuronal, 7 Ceroid Lipofuscinosis, Neuronal, 11
Ceroid Lipofuscinosis, Neuronal, 13 Adult Neuronal Ceroid Lipofuscinosis

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

(show all 37)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 13.0
2 ceroid lipofuscinosis, neuronal, 1 12.1
3 epilepsy 11.9
4 neuronal ceroid lipofuscinosis 11.9
5 neuronal ceroid-lipofuscinoses 11.8
6 ceroid lipofuscinosis, neuronal, 3 11.6
7 ceroid lipofuscinosis, neuronal, 2 11.6
8 ceroid lipofuscinosis, neuronal, 7 11.6
9 ceroid lipofuscinosis, neuronal, 9 11.6
10 ceroid lipofuscinosis, neuronal, 10 11.6
11 ceroid storage disease 11.5
12 retinitis pigmentosa 22 11.2
13 ceroid lipofuscinosis, neuronal, 11 11.2
14 ceroid lipofuscinosis, neuronal, 13 11.2
15 visual epilepsy 11.2
16 complex partial epilepsy 11.2
17 visual pathway disease 11.2
18 visual cortex disease 11.2
19 lipid storage disease 11.1
20 ceroid lipofuscinosis, neuronal, 5 10.5
21 ceroid lipofuscinosis, neuronal, 6 10.4
22 myoclonus 10.4
23 yemenite deaf-blind hypopigmentation syndrome 10.3
24 lysosomal storage disease 10.3
25 pathologic nystagmus 10.3
26 ataxia and polyneuropathy, adult-onset 10.2
27 autosomal recessive disease 10.2
28 retinal degeneration 10.2
29 dysphagia 10.2
30 autism 10.1
31 gaucher disease, type i 10.1
32 autism spectrum disorder 10.1
33 telangiectasis 10.1
34 gaucher's disease 10.1
35 wallerian degeneration 10.1
36 cerebral atrophy 10.1
37 mitochondrial disease with epilepsy 10.1

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



Diseases related to Ceroid Lipofuscinosis, Neuronal, 8

Symptoms & Phenotypes for Ceroid Lipofuscinosis, Neuronal, 8

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 8:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 ataxia 32 HP:0001251
3 eeg abnormality 32 HP:0002353
4 developmental regression 32 HP:0002376
5 delayed speech and language development 32 HP:0000750
6 progressive visual loss 32 HP:0000529
7 myoclonus 32 HP:0001336
8 cerebellar atrophy 32 HP:0001272
9 cerebral atrophy 32 HP:0002059
10 increased neuronal autofluorescent lipopigment 32 HP:0002074
11 curvilinear intracellular accumulation of autofluorescent lipopigment storage material 32 HP:0003205

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
ataxia
developmental regression
myoclonus
cerebellar atrophy
more
Laboratory Abnormalities:
intracellular fingerprint profiles on ultrastructural analysis
intracellular curvilinear profiles on ultrastructural analysis

Head And Neck Eyes:
vision loss, progressive

Clinical features from OMIM:

600143

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 8:


seizures, ataxia, myoclonus, clumsiness, restlessness

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 8

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Neuropsychopathological Study of Autism: From Clinical, Neurocognitive, to Genetic Studies and Animal Models Unknown status NCT01677663

Search NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 8

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 8

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 8

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

41
Eye, Brain, Liver, Heart, Retina, T Cells

Publications for Ceroid Lipofuscinosis, Neuronal, 8

Articles related to Ceroid Lipofuscinosis, Neuronal, 8:

(show top 50) (show all 121)
# Title Authors PMID Year
1
Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean. 38 8 71
16570191 2006
2
Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. 38 8 71
15024724 2004
3
Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8. 38 8 71
11589000 2001
4
Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies. 8 71
15074367 2004
5
A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry. 38 8
24953404 2014
6
Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion. 38 8
22220808 2012
7
A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function. 38 71
19431184 2009
8
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. 38 8
15965709 2005
9
A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis. 38 8
15629147 2005
10
Neuronal Ceroid-Lipofuscinoses 38 71
20301601 2001
11
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. 38 8
10508524 1999
12
Neuronal ceroid lipofuscinoses. 71
19084560 2009
13
A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7. 8
10191125 1999
14
Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease). 8
7683855 1993
15
The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function. 38
30919163 2019
16
Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation. 38
31029456 2019
17
Congenital CLN8 disease of neuronal ceroid lipofuscinosis: a novel phenotype. 38
30741402 2019
18
Neuronal ceroid lipofuscinosis related ER membrane protein CLN8 regulates PP2A activity and ceramide levels. 38
30453012 2019
19
Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis. 38
31105743 2019
20
CLN8 safeguards lysosome biogenesis. 38
30397316 2018
21
CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis. 38
30397314 2018
22
Flupirtine derivatives as potential treatment for the neuronal ceroid lipofuscinoses. 38
30250865 2018
23
A genome-wide scan for signatures of selection in Azeri and Khuzestani buffalo breeds. 38
29890939 2018
24
Eleven residues determine the acyl chain specificity of ceramide synthases. 38
29632068 2018
25
Impact of fluoride and a static magnetic field on the gene expression that is associated with the antioxidant defense system of human fibroblasts. 38
29630877 2018
26
Neuronal ceroid lipofuscinosis in Salukis is caused by a single base pair insertion in CLN8. 38
29446145 2018
27
Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants. 38
29422019 2018
28
Isolated chromosome 8p23.2‑pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders. 38
28901431 2017
29
A neurodevelopmental disorder with a nonsense mutation in the Ox-2 antigen domain of the amyloid precursor protein (APP) gene. 38
28102781 2017
30
Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy. 38
27844444 2017
31
Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog. 38
28024876 2017
32
Predicting treatable traits for long-acting bronchodilators in patients with stable COPD. 38
29263660 2017
33
CLN8 disease caused by large genomic deletions. 38
28116333 2017
34
Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features. 38
29503925 2016
35
Using the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosis. 38
27881166 2016
36
Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan. 38
26443629 2016
37
Cell biology of the NCL proteins: What they do and don't do. 38
25962910 2015
38
Genetics of the neuronal ceroid lipofuscinoses (Batten disease). 38
26026925 2015
39
The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina. 38
25976102 2015
40
Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population. 38
26657971 2015
41
Novel rare missense variations and risk of autism spectrum disorder: whole-exome sequencing in two families with affected siblings and a two-stage follow-up study in a Japanese population. 38
25806950 2015
42
Sensory rewiring in an echolocator: genome-wide modification of retinogenic and auditory genes in the bat Myotis davidii. 38
25096539 2014
43
Characterization of neuronal ceroid-lipofuscinosis in 3 cats. 38
24026940 2014
44
Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis. 38
25333361 2014
45
CLN6 disease caused by the same mutation originating in Pakistan has varying pathology. 38
23735787 2013
46
Seizure susceptibility, phenotype, and resultant growth delay in the nclf and mnd mouse models of neuronal ceroid lipofuscinoses. 38
23838029 2013
47
Exposure to Maternal Diabetes in Utero and DNA Methylation Patterns in the Offspring. 38
23741625 2013
48
Identifying protein partners of CLN8, an ER-resident protein involved in neuronal ceroid lipofuscinosis. 38
23142642 2013
49
Fam57b (family with sequence similarity 57, member B), a novel peroxisome proliferator-activated receptor γ target gene that regulates adipogenesis through ceramide synthesis. 38
23275342 2013
50
Ylpex5 mutation partially suppresses the defective hyphal growth of a Yarrowia lipolytica ceramide synthase mutant, Yllac1, by recovering lipid raft polarization and vacuole morphogenesis. 38
23200743 2013

Variations for Ceroid Lipofuscinosis, Neuronal, 8

ClinVar genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 8:

6 (show top 50) (show all 52)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CLN8 NM_018941.3(CLN8): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs143730802 8:1719221-1719221 8:1771055-1771055
2 CLN8 NM_018941.3(CLN8): c.70C> G (p.Arg24Gly) single nucleotide variant Pathogenic rs104894064 8:1719290-1719290 8:1771124-1771124
3 CLN8 NM_018941.3(CLN8): c.789G> C (p.Trp263Cys) single nucleotide variant Pathogenic rs28940569 8:1728661-1728661 8:1780495-1780495
4 CLN8 NM_018941.3(CLN8): c.88G> C (p.Ala30Pro) single nucleotide variant Pathogenic rs137852883 8:1719308-1719308 8:1771142-1771142
5 CLN8 NM_018941.3(CLN8): c.792C> G (p.Asn264Lys) single nucleotide variant Pathogenic rs587779411 8:1728664-1728664 8:1780498-1780498
6 CLN8 NM_018941.3(CLN8): c.88del (p.Ala30fs) deletion Pathogenic/Likely pathogenic rs386834139 8:1719308-1719308 8:1771142-1771142
7 CLN8 NM_018941.3(CLN8): c.499G> T (p.Glu167Ter) single nucleotide variant Pathogenic/Likely pathogenic rs144495588 8:1719719-1719719 8:1771553-1771553
8 CLN8 NM_018941.3(CLN8): c.181_183del (p.Lys61del) deletion Pathogenic/Likely pathogenic rs386834123 8:1719400-1719402 8:1771234-1771236
9 CLN8 NM_018941.3(CLN8): c.66del (p.Ile23fs) deletion Pathogenic/Likely pathogenic rs34238807 8:1719286-1719286 8:1771120-1771120
10 CLN8 NM_018941.3(CLN8): c.610C> T (p.Arg204Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104894060 8:1728482-1728482 8:1780316-1780316
11 CLN8 NM_018941.3(CLN8): c.763C> T (p.Gln255Ter) single nucleotide variant Likely pathogenic rs746397087 8:1728635-1728635 8:1780469-1780469
12 CLN8 NM_018941.3(CLN8): c.50del (p.Asp17fs) deletion Likely pathogenic rs1554448924 8:1719269-1719270 8:1771104-1771104
13 CLN8 NM_018941.3(CLN8): c.226C> T (p.Gln76Ter) single nucleotide variant Likely pathogenic rs1554449047 8:1719446-1719446 8:1771280-1771280
14 CLN8 NM_018941.3(CLN8): c.312G> A (p.Trp104Ter) single nucleotide variant Likely pathogenic rs1554449136 8:1719532-1719532 8:1771366-1771366
15 CLN8 NM_018941.3(CLN8): c.594del (p.His199fs) deletion Likely pathogenic rs1554451504 8:1728464-1728465 8:1780300-1780300
16 CLN8 NM_018941.3(CLN8): c.47del (p.Leu16fs) deletion Likely pathogenic rs1057516867 8:1719267-1719267 8:1771101-1771101
17 CLN8 NM_018941.3(CLN8): c.263del (p.Asp88fs) deletion Likely pathogenic rs1057516582 8:1719483-1719483 8:1771317-1771317
18 CLN8 NM_018941.3(CLN8): c.543+1G> T single nucleotide variant Likely pathogenic rs756267448 8:1719764-1719764 8:1771598-1771598
19 CLN8 NM_018941.3(CLN8): c.204del (p.Thr69fs) deletion Likely pathogenic rs1554449028 8:1719422-1719423 8:1771258-1771258
20 CLN8 NM_018941.3(CLN8): c.283A> T (p.Lys95Ter) single nucleotide variant Likely pathogenic rs759830733 8:1719503-1719503 8:1771337-1771337
21 CLN8 NM_018941.3(CLN8): c.306G> A (p.Trp102Ter) single nucleotide variant Likely pathogenic rs1554449124 8:1719526-1719526 8:1771360-1771360
22 CLN8 NM_018941.3(CLN8): c.398T> A (p.Leu133Ter) single nucleotide variant Likely pathogenic rs554042394 8:1719618-1719618 8:1771452-1771452
23 CLN8 NM_018941.3(CLN8): c.544-2A> G single nucleotide variant Likely pathogenic rs1554451484 8:1728414-1728414 8:1780248-1780248
24 CLN8 NM_018941.3(CLN8): c.2T> C (p.Met1Thr) single nucleotide variant Likely pathogenic rs1554448874 8:1719222-1719222 8:1771056-1771056
25 CLN8 NM_018941.3(CLN8): c.766C> G (p.Gln256Glu) single nucleotide variant Likely pathogenic rs386834138 8:1728638-1728638 8:1780472-1780472
26 CLN8 NM_018941.3(CLN8): c.634_636TGG[1] (p.Trp213del) short repeat Likely pathogenic rs386834135 8:1728509-1728511 8:1780343-1780345
27 CLN8 NM_018941.3(CLN8): c.509C> T (p.Thr170Met) single nucleotide variant Likely pathogenic rs188259026 8:1719729-1719729 8:1771563-1771563
28 CLN8 NM_018941.3(CLN8): c.560_561CT[1] (p.Leu188fs) short repeat Likely pathogenic rs386834132 8:1728434-1728435 8:1780268-1780269
29 CLN8 NM_018941.3(CLN8): c.581A> G (p.Gln194Arg) single nucleotide variant Likely pathogenic rs386834133 8:1728453-1728453 8:1780287-1780287
30 CLN8 NM_018941.3(CLN8): c.473A> G (p.Tyr158Cys) single nucleotide variant Likely pathogenic rs386834130 8:1719693-1719693 8:1771527-1771527
31 CLN8 NM_018941.3(CLN8): c.227A> G (p.Gln76Arg) single nucleotide variant Likely pathogenic rs386834125 8:1719447-1719447 8:1771281-1771281
32 CLN8 NM_018941.3(CLN8): c.320T> G (p.Ile107Ser) single nucleotide variant Likely pathogenic rs386834126 8:1719540-1719540 8:1771374-1771374
33 CLN8 NM_018941.3(CLN8): c.415C> T (p.His139Tyr) single nucleotide variant Likely pathogenic rs386834127 8:1719635-1719635 8:1771469-1771469
34 CLN8 NM_018941.3(CLN8): c.464C> T (p.Ala155Val) single nucleotide variant Likely pathogenic rs386834128 8:1719684-1719684 8:1771518-1771518
35 CLN8 NM_018941.3(CLN8): c.709G> A (p.Gly237Arg) single nucleotide variant Likely pathogenic rs746645358 8:1728581-1728581 8:1780415-1780415
36 CLN8 NM_018941.3(CLN8): c.470A> G (p.His157Arg) single nucleotide variant Likely pathogenic rs149308952 8:1719690-1719690 8:1771524-1771524
37 CLN8 NM_018941.3(CLN8): c.374A> G (p.Asn125Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs142269885 8:1719594-1719594 8:1771428-1771428
38 CLN8 NM_018941.3(CLN8): c.806A> T (p.Glu269Val) single nucleotide variant Conflicting interpretations of pathogenicity rs139003032 8:1728678-1728678 8:1780512-1780512
39 CLN8 NM_018941.3(CLN8): c.779C> T (p.Pro260Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs146579299 8:1728651-1728651 8:1780485-1780485
40 CLN8 NM_018941.3(CLN8): c.209G> A (p.Arg70His) single nucleotide variant Conflicting interpretations of pathogenicity rs386834124 8:1719429-1719429 8:1771263-1771263
41 CLN8 NM_018941.3(CLN8): c.46C> A (p.Leu16Met) single nucleotide variant Uncertain significance rs386834129 8:1719266-1719266 8:1771100-1771100
42 CLN8 NM_018941.3(CLN8): c.611G> T (p.Arg204Leu) single nucleotide variant Uncertain significance rs386834134 8:1728483-1728483 8:1780317-1780317
43 CLN8 NM_018941.3(CLN8): c.661G> A (p.Gly221Ser) single nucleotide variant Uncertain significance rs386834136 8:1728533-1728533 8:1780367-1780367
44 CLN8 NM_018941.3(CLN8): c.-123-1G> C single nucleotide variant Uncertain significance rs1554448791 8:1719097-1719097 8:1770931-1770931
45 CLN8 NM_018941.3(CLN8): c.681T> A (p.Tyr227Ter) single nucleotide variant Uncertain significance rs1554451561 8:1728553-1728553 8:1780387-1780387
46 CLN8 NM_018941.3(CLN8): c.611G> A (p.Arg204His) single nucleotide variant Uncertain significance rs386834134 8:1728483-1728483 8:1780317-1780317
47 CLN8 NM_018941.3(CLN8): c.-131_-124+13del deletion Uncertain significance rs1554446821 8:1712041-1712062 8:1763878-1763898
48 CLN8 NM_018941.3(CLN8): c.50A> G (p.Asp17Gly) single nucleotide variant Uncertain significance rs148668081 8:1719270-1719270 8:1771104-1771104
49 CLN8 NM_018941.3(CLN8): c.98T> C (p.Val33Ala) single nucleotide variant Uncertain significance 8:1719318-1719318 8:1771152-1771152
50 CLN8 NM_018941.3(CLN8): c.507C> T (p.Ser169=) single nucleotide variant Likely benign rs386834131 8:1719727-1719727 8:1771561-1771561

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

74 (show all 15)
# Symbol AA change Variation ID SNP ID
1 CLN8 p.Leu16Met VAR_026554 rs386834129
2 CLN8 p.Thr170Met VAR_026555 rs188259026
3 CLN8 p.Arg204Cys VAR_026556 rs104894060
4 CLN8 p.Trp263Cys VAR_026557 rs28940569
5 CLN8 p.Tyr158Cys VAR_058438 rs386834130
6 CLN8 p.Gly237Arg VAR_058439 rs746645358
7 CLN8 p.Ala30Pro VAR_060573 rs137852883
8 CLN8 p.Gln194Arg VAR_060575 rs386834133
9 CLN8 p.Arg70His VAR_066920 rs386834124
10 CLN8 p.Gln76Arg VAR_066921 rs386834125
11 CLN8 p.Ile107Ser VAR_066922 rs386834126
12 CLN8 p.His139Tyr VAR_066924 rs386834127
13 CLN8 p.Gly221Ser VAR_066926 rs386834136
14 CLN8 p.Glu269Val VAR_066928 rs139003032
15 CLN8 p.Arg204Leu VAR_075367 rs386834134

Expression for Ceroid Lipofuscinosis, Neuronal, 8

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

Pathways for Ceroid Lipofuscinosis, Neuronal, 8

GO Terms for Ceroid Lipofuscinosis, Neuronal, 8

Sources for Ceroid Lipofuscinosis, Neuronal, 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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