CLN8
MCID: CRD181
MIFTS: 43

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 56 73 13 71
Neuronal Ceroid Lipofuscinosis 8 12 25 29 6 15
Cln8 56 12 73
Cln8 Disease 25 58
Lipofuscinosis, Ceroid, Neuronal, Type 8 39
Turkish Variant Late Infantile Ncl 73
Northern Epilepsy Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
cln8 disease
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
ceroid lipofuscinosis, neuronal, 8:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0110723
OMIM 56 600143
OMIM Phenotypic Series 56 PS256730
MeSH 43 D009472
ICD10 32 E75.4
ICD10 via Orphanet 33 E75.4
UMLS via Orphanet 72 C1838570
Orphanet 58 ORPHA228354
MedGen 41 C1838570
UMLS 71 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 storage disease, 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), and among its related pathways/superpathways are MHC class II antigen presentation and Regulation of cholesterol biosynthesis by SREBP (SREBF). Affiliated tissues include eye and retina, and related phenotypes are delayed speech and language development and developmental regression

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 : 56 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 : 73 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 41)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 13.0
2 ceroid storage disease 11.9
3 epilepsy 11.8
4 neuronal ceroid lipofuscinosis 11.8
5 ceroid lipofuscinosis, neuronal, 1 11.8
6 neuronal ceroid-lipofuscinoses 11.8
7 ceroid lipofuscinosis, neuronal, 2 11.6
8 autism spectrum disorder 11.6
9 gaucher's disease 11.6
10 ceroid lipofuscinosis, neuronal, 3 11.5
11 ceroid lipofuscinosis, neuronal, 7 11.5
12 ceroid lipofuscinosis, neuronal, 9 11.4
13 ceroid lipofuscinosis, neuronal, 10 11.4
14 dystonia 11.2
15 spinocerebellar ataxia, autosomal recessive 7 11.1
16 epilepsy, idiopathic generalized 5 11.1
17 ceroid lipofuscinosis, neuronal, 11 11.1
18 ceroid lipofuscinosis, neuronal, 13 11.1
19 combined oxidative phosphorylation deficiency 32 11.1
20 progressive myoclonus epilepsy 3 11.1
21 visual epilepsy 11.1
22 complex partial epilepsy 11.1
23 lipid storage disease 11.1
24 ceroid lipofuscinosis, neuronal, 6 10.4
25 myoclonus 10.4
26 yemenite deaf-blind hypopigmentation syndrome 10.3
27 lysosomal storage disease 10.3
28 pathologic nystagmus 10.3
29 ataxia and polyneuropathy, adult-onset 10.2
30 autosomal recessive disease 10.2
31 retinal degeneration 10.2
32 dysphagia 10.2
33 autism 10.1
34 gaucher disease, type i 10.1
35 ceroid lipofuscinosis, neuronal, 5 10.1
36 telangiectasis 10.1
37 wallerian degeneration 10.1
38 cerebral atrophy 10.1
39 mitochondrial disease with epilepsy 10.1
40 craniolenticulosutural dysplasia 9.4 SEC24C SEC24A
41 anemia, congenital dyserythropoietic, type ii 9.2 SEC24C SEC24A

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:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 31 HP:0000750
2 developmental regression 31 HP:0002376
3 eeg abnormality 31 HP:0002353
4 ataxia 31 HP:0001251
5 progressive visual loss 31 HP:0000529
6 myoclonus 31 HP:0001336
7 cerebellar atrophy 31 HP:0001272
8 cerebral atrophy 31 HP:0002059
9 seizure 31 HP:0001250
10 increased neuronal autofluorescent lipopigment 31 HP:0002074
11 curvilinear intracellular accumulation of autofluorescent lipopigment storage material 31 HP:0003205

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
developmental regression
ataxia
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, restlessness, clumsiness

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

Genetic tests related to Ceroid Lipofuscinosis, Neuronal, 8:

# Genetic test Affiliating Genes
1 Neuronal Ceroid Lipofuscinosis 8 29 CLN8

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 8

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

40
Eye, Retina

Publications for Ceroid Lipofuscinosis, Neuronal, 8

Articles related to Ceroid Lipofuscinosis, Neuronal, 8:

(show all 20)
# Title Authors PMID Year
1
Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean. 6 56
16570191 2006
2
Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. 6 56
15024724 2004
3
Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies. 56 6
15074367 2004
4
Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8. 6 56
11589000 2001
5
A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry. 56
24953404 2014
6
Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion. 56
22220808 2012
7
A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function. 6
19431184 2009
8
Neuronal ceroid lipofuscinoses. 6
19084560 2009
9
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. 56
15965709 2005
10
A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis. 56
15629147 2005
11
Neuronal Ceroid-Lipofuscinoses – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301601 2001
12
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. 56
10508524 1999
13
A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7. 56
10191125 1999
14
Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease). 56
7683855 1993
15
CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis. 61
30397314 2018
16
Isolated chromosome 8p23.2‑pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders. 61
28901431 2017
17
A neurodevelopmental disorder with a nonsense mutation in the Ox-2 antigen domain of the amyloid precursor protein (APP) gene. 61
28102781 2017
18
Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population. 61
26657971 2015
19
Selective spatiotemporal patterns of glial activation and neuron loss in the sensory thalamocortical pathways of neuronal ceroid lipofuscinosis 8 mice. 61
22569358 2012
20
Characterization of new transcripts enriched in the mouse retina and identification of candidate retinal disease genes. 61
15326156 2004

Variations for Ceroid Lipofuscinosis, Neuronal, 8

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

6 (show top 50) (show all 52) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CLN8 NM_018941.3(CLN8):c.1A>G (p.Met1Val)SNV Pathogenic 487522 rs143730802 8:1719221-1719221 8:1771055-1771055
2 CLN8 NM_018941.3(CLN8):c.70C>G (p.Arg24Gly)SNV Pathogenic 2802 rs104894064 8:1719290-1719290 8:1771124-1771124
3 CLN8 NM_018941.3(CLN8):c.789G>C (p.Trp263Cys)SNV Pathogenic 2803 rs28940569 8:1728661-1728661 8:1780495-1780495
4 CLN8 NM_018941.3(CLN8):c.88G>C (p.Ala30Pro)SNV Pathogenic 2806 rs137852883 8:1719308-1719308 8:1771142-1771142
5 CLN8 NM_018941.3(CLN8):c.499G>T (p.Glu167Ter)SNV Pathogenic 205194 rs144495588 8:1719719-1719719 8:1771553-1771553
6 CLN8 NM_018941.4(CLN8):c.792C>G (p.Asn264Lys)SNV Pathogenic/Likely pathogenic 100736 rs587779411 8:1728664-1728664 8:1780498-1780498
7 CLN8 NM_018941.3(CLN8):c.181_183del (p.Lys61del)deletion Pathogenic/Likely pathogenic 56703 rs386834123 8:1719399-1719401 8:1771233-1771235
8 CLN8 NM_018941.3(CLN8):c.610C>T (p.Arg204Cys)SNV Pathogenic/Likely pathogenic 2804 rs104894060 8:1728482-1728482 8:1780316-1780316
9 CLN8 NM_018941.3(CLN8):c.66del (p.Ile23fs)deletion Pathogenic/Likely pathogenic 56718 rs34238807 8:1719282-1719282 8:1771116-1771116
10 CLN8 NM_018941.3(CLN8):c.88del (p.Ala30fs)deletion Pathogenic/Likely pathogenic 56720 rs386834139 8:1719308-1719308 8:1771142-1771142
11 CLN8 NM_018941.3(CLN8):c.766C>G (p.Gln256Glu)SNV Likely pathogenic 56719 rs386834138 8:1728638-1728638 8:1780472-1780472
12 CLN8 NM_018941.3(CLN8):c.473A>G (p.Tyr158Cys)SNV Likely pathogenic 56710 rs386834130 8:1719693-1719693 8:1771527-1771527
13 CLN8 NM_018941.3(CLN8):c.637_639delTGGshort repeat Likely pathogenic 56716 rs386834135 8:1728505-1728507 8:1780339-1780341
14 CLN8 NM_018941.3(CLN8):c.227A>G (p.Gln76Arg)SNV Likely pathogenic 56705 rs386834125 8:1719447-1719447 8:1771281-1771281
15 CLN8 NM_018941.3(CLN8):c.320T>G (p.Ile107Ser)SNV Likely pathogenic 56706 rs386834126 8:1719540-1719540 8:1771374-1771374
16 CLN8 NM_018941.3(CLN8):c.415C>T (p.His139Tyr)SNV Likely pathogenic 56707 rs386834127 8:1719635-1719635 8:1771469-1771469
17 CLN8 NM_018941.3(CLN8):c.464C>T (p.Ala155Val)SNV Likely pathogenic 56708 rs386834128 8:1719684-1719684 8:1771518-1771518
18 CLN8 NM_018941.3(CLN8):c.509C>T (p.Thr170Met)SNV Likely pathogenic 56712 rs188259026 8:1719729-1719729 8:1771563-1771563
19 CLN8 NM_018941.3(CLN8):c.562_563delCTshort repeat Likely pathogenic 56713 rs386834132 8:1728431-1728432 8:1780265-1780266
20 CLN8 NM_018941.3(CLN8):c.581A>G (p.Gln194Arg)SNV Likely pathogenic 56714 rs386834133 8:1728453-1728453 8:1780287-1780287
21 CLN8 NM_018941.3(CLN8):c.50del (p.Asp17fs)deletion Likely pathogenic 555573 rs1554448924 8:1719270-1719270 8:1771104-1771104
22 CLN8 NM_018941.3(CLN8):c.226C>T (p.Gln76Ter)SNV Likely pathogenic 556399 rs1554449047 8:1719446-1719446 8:1771280-1771280
23 CLN8 NM_018941.3(CLN8):c.312G>A (p.Trp104Ter)SNV Likely pathogenic 556335 rs1554449136 8:1719532-1719532 8:1771366-1771366
24 CLN8 NM_018941.3(CLN8):c.594del (p.His199fs)deletion Likely pathogenic 555267 rs1554451504 8:1728465-1728465 8:1780299-1780299
25 CLN8 NM_018941.3(CLN8):c.763C>T (p.Gln255Ter)SNV Likely pathogenic 558594 rs746397087 8:1728635-1728635 8:1780469-1780469
26 CLN8 NM_018941.3(CLN8):c.204del (p.Thr69fs)deletion Likely pathogenic 556933 rs1554449028 8:1719423-1719423 8:1771257-1771257
27 CLN8 NM_018941.3(CLN8):c.283A>T (p.Lys95Ter)SNV Likely pathogenic 555198 rs759830733 8:1719503-1719503 8:1771337-1771337
28 CLN8 NM_018941.3(CLN8):c.306G>A (p.Trp102Ter)SNV Likely pathogenic 551061 rs1554449124 8:1719526-1719526 8:1771360-1771360
29 CLN8 NM_018941.3(CLN8):c.398T>A (p.Leu133Ter)SNV Likely pathogenic 558034 rs554042394 8:1719618-1719618 8:1771452-1771452
30 CLN8 NM_018941.3(CLN8):c.544-2A>GSNV Likely pathogenic 552952 rs1554451484 8:1728414-1728414 8:1780248-1780248
31 CLN8 NM_018941.3(CLN8):c.2T>C (p.Met1Thr)SNV Likely pathogenic 555468 rs1554448874 8:1719222-1719222 8:1771056-1771056
32 CLN8 NM_018941.3(CLN8):c.709G>A (p.Gly237Arg)SNV Likely pathogenic 188917 rs746645358 8:1728581-1728581 8:1780415-1780415
33 CLN8 NM_018941.3(CLN8):c.470A>G (p.His157Arg)SNV Likely pathogenic 210736 rs149308952 8:1719690-1719690 8:1771524-1771524
34 CLN8 NM_018941.4(CLN8):c.208C>T (p.Arg70Cys)SNV Likely pathogenic 242453 rs765097897 8:1719428-1719428 8:1771262-1771262
35 CLN8 NM_018941.3(CLN8):c.47del (p.Leu16fs)deletion Likely pathogenic 370918 rs1057516867 8:1719267-1719267 8:1771101-1771101
36 CLN8 NM_018941.3(CLN8):c.263del (p.Asp88fs)deletion Likely pathogenic 370553 rs1057516582 8:1719483-1719483 8:1771317-1771317
37 CLN8 NM_018941.3(CLN8):c.543+1G>TSNV Likely pathogenic 371199 rs756267448 8:1719764-1719764 8:1771598-1771598
38 CLN8 NM_018941.3(CLN8):c.806A>T (p.Glu269Val)SNV Conflicting interpretations of pathogenicity 196493 rs139003032 8:1728678-1728678 8:1780512-1780512
39 CLN8 NM_018941.3(CLN8):c.779C>T (p.Pro260Leu)SNV Conflicting interpretations of pathogenicity 205196 rs146579299 8:1728651-1728651 8:1780485-1780485
40 CLN8 NM_018941.3(CLN8):c.374A>G (p.Asn125Ser)SNV Conflicting interpretations of pathogenicity 205207 rs142269885 8:1719594-1719594 8:1771428-1771428
41 CLN8 NM_018941.3(CLN8):c.209G>A (p.Arg70His)SNV Conflicting interpretations of pathogenicity 56704 rs386834124 8:1719429-1719429 8:1771263-1771263
42 CLN8 NM_018941.3(CLN8):c.611G>A (p.Arg204His)SNV Uncertain significance 557767 rs386834134 8:1728483-1728483 8:1780317-1780317
43 CLN8 NM_018941.3(CLN8):c.98T>C (p.Val33Ala)SNV Uncertain significance 626088 rs1301388199 8:1719318-1719318 8:1771152-1771152
44 CLN8 NM_018941.3(CLN8):c.-123-1G>CSNV Uncertain significance 553622 rs1554448791 8:1719097-1719097 8:1770931-1770931
45 CLN8 NM_018941.3(CLN8):c.-131_-124+13deldeletion Uncertain significance 553068 rs1554446821 8:1712042-1712062 8:1763876-1763896
46 CLN8 NM_018941.3(CLN8):c.681T>A (p.Tyr227Ter)SNV Uncertain significance 556561 rs1554451561 8:1728553-1728553 8:1780387-1780387
47 CLN8 NM_018941.3(CLN8):c.611G>T (p.Arg204Leu)SNV Uncertain significance 56715 rs386834134 8:1728483-1728483 8:1780317-1780317
48 CLN8 NM_018941.3(CLN8):c.46C>A (p.Leu16Met)SNV Uncertain significance 56709 rs386834129 8:1719266-1719266 8:1771100-1771100
49 CLN8 NM_018941.3(CLN8):c.661G>A (p.Gly221Ser)SNV Uncertain significance 56717 rs386834136 8:1728533-1728533 8:1780367-1780367
50 CLN8 NM_018941.3(CLN8):c.50A>G (p.Asp17Gly)SNV Uncertain significance 205201 rs148668081 8:1719270-1719270 8:1771104-1771104

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

73 (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

Cellular components related to Ceroid Lipofuscinosis, Neuronal, 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.65 TMED4 SEC24C SEC24A DNAJC1 CLN8
2 ER to Golgi transport vesicle membrane GO:0012507 9.37 SEC24C SEC24A
3 endoplasmic reticulum membrane GO:0005789 9.35 TMED4 SEC24C SEC24A DNAJC1 CLN8
4 endoplasmic reticulum exit site GO:0070971 9.32 SEC24C SEC24A
5 COPII vesicle coat GO:0030127 9.16 SEC24C SEC24A
6 endoplasmic reticulum-Golgi intermediate compartment GO:0005793 8.8 TRAPPC12 TMED4 CLN8

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

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.65 TMED4 SEC24C SEC24A
2 intracellular protein transport GO:0006886 9.54 TMED4 SEC24C SEC24A
3 vesicle-mediated transport GO:0016192 9.5 TRAPPC12 SEC24C SEC24A
4 Golgi organization GO:0007030 9.46 TRAPPC12 TMED4
5 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.43 SEC24C SEC24A
6 COPII vesicle coating GO:0048208 9.4 SEC24C SEC24A
7 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.26 SEC24C SEC24A
8 negative regulation of proteolysis GO:0045861 9.16 DNAJC1 CLN8
9 cargo loading into COPII-coated vesicle GO:0090110 8.96 SEC24C SEC24A
10 ER to Golgi vesicle-mediated transport GO:0006888 8.92 TRAPPC12 TMED4 SEC24C SEC24A

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

# Name GO ID Score Top Affiliating Genes
1 SNARE binding GO:0000149 8.62 SEC24C SEC24A

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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