CLN8
MCID: CRD181
MIFTS: 32

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 58 76 13 74
Neuronal Ceroid Lipofuscinosis 8 12 26 15
Cln8 58 12 76
Cln8 Disease 26 60
Turkish Variant Late Infantile Ncl 76
Northern Epilepsy Syndrome 74

Characteristics:

Orphanet epidemiological data:

60
cln8 disease
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
ceroid lipofuscinosis, neuronal, 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110723
OMIM 58 600143
MeSH 45 D009472
ICD10 34 E75.4
ICD10 via Orphanet 35 E75.4
UMLS via Orphanet 75 C1838570
Orphanet 60 ORPHA228354
MedGen 43 C1838570

Summaries for Ceroid Lipofuscinosis, Neuronal, 8

OMIM : 58 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)

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). The drugs Paclitaxel and Carboplatin have been mentioned in the context of this disorder. Affiliated tissues include eye, 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.

Genetics Home Reference : 26 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.

UniProtKB/Swiss-Prot : 76 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 21)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 12.9
2 ceroid lipofuscinosis, neuronal, 1 11.9
3 epilepsy 11.8
4 neuronal ceroid lipofuscinosis 11.7
5 neuronal ceroid-lipofuscinoses 11.6
6 ceroid lipofuscinosis, neuronal, 2 11.2
7 ceroid lipofuscinosis, neuronal, 3 11.1
8 ceroid storage disease 11.1
9 retinitis pigmentosa 22 11.1
10 ceroid lipofuscinosis, neuronal, 9 11.1
11 ceroid lipofuscinosis, neuronal, 10 11.1
12 ceroid lipofuscinosis, neuronal, 7 11.1
13 ceroid lipofuscinosis, neuronal, 11 11.1
14 complex partial epilepsy 11.1
15 visual pathway disease 11.1
16 visual cortex disease 11.1
17 cerebral atrophy 11.1
18 lipid storage disease 11.0
19 autism 10.0
20 autism spectrum disorder 10.0
21 gaucher's disease 10.0

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:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 ataxia 33 HP:0001251
3 eeg abnormality 33 HP:0002353
4 developmental regression 33 HP:0002376
5 delayed speech and language development 33 HP:0000750
6 progressive visual loss 33 HP:0000529
7 myoclonus 33 HP:0001336
8 cerebellar atrophy 33 HP:0001272
9 cerebral atrophy 33 HP:0002059
10 increased neuronal autofluorescent lipopigment 33 HP:0002074
11 curvilinear intracellular accumulation of autofluorescent lipopigment storage material 33 HP:0003205

Symptoms via clinical synopsis from OMIM:

58
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

Drugs for Ceroid Lipofuscinosis, Neuronal, 8 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Paclitaxel Approved, Vet_approved Phase 1, Phase 2 33069-62-4 36314
2
Carboplatin Approved Phase 1, Phase 2 41575-94-4 38904 10339178 498142
3
Belinostat Approved, Investigational Phase 1, Phase 2 866323-14-0
4 Albumin-Bound Paclitaxel Phase 1, Phase 2
5 Antimitotic Agents Phase 1, Phase 2
6 Histone Deacetylase Inhibitors Phase 1, Phase 2
7 Antineoplastic Agents, Phytogenic Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study of Belinostat + Carboplatin or Paclitaxel or Both in Patients With Ovarian Cancer in Need of Relapse Treatment Completed NCT00421889 Phase 1, Phase 2 belinostat;Paclitaxel;Carboplatin
2 Clinical and Neuropsychological Investigations in Batten Disease Recruiting NCT01873924

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:

42
Eye

Publications for Ceroid Lipofuscinosis, Neuronal, 8

Articles related to Ceroid Lipofuscinosis, Neuronal, 8:

# Title Authors Year
1
Selective spatiotemporal patterns of glial activation and neuron loss in the sensory thalamocortical pathways of neuronal ceroid lipofuscinosis 8 mice. ( 22569358 )
2012

Variations for Ceroid Lipofuscinosis, Neuronal, 8

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

76 (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

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

6 (show top 50) (show all 100)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLN8 NM_018941.3(CLN8): c.709G> A (p.Gly237Arg) single nucleotide variant Likely pathogenic rs746645358 GRCh37 Chromosome 8, 1728581: 1728581
2 CLN8 NM_018941.3(CLN8): c.709G> A (p.Gly237Arg) single nucleotide variant Likely pathogenic rs746645358 GRCh38 Chromosome 8, 1780415: 1780415
3 CLN8 NM_018941.3(CLN8): c.806A> T (p.Glu269Val) single nucleotide variant Conflicting interpretations of pathogenicity rs139003032 GRCh37 Chromosome 8, 1728678: 1728678
4 CLN8 NM_018941.3(CLN8): c.806A> T (p.Glu269Val) single nucleotide variant Conflicting interpretations of pathogenicity rs139003032 GRCh38 Chromosome 8, 1780512: 1780512
5 CLN8 NM_018941.3(CLN8): c.50A> G (p.Asp17Gly) single nucleotide variant Uncertain significance rs148668081 GRCh38 Chromosome 8, 1771104: 1771104
6 CLN8 NM_018941.3(CLN8): c.50A> G (p.Asp17Gly) single nucleotide variant Uncertain significance rs148668081 GRCh37 Chromosome 8, 1719270: 1719270
7 CLN8 NM_018941.3(CLN8): c.374A> G (p.Asn125Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs142269885 GRCh37 Chromosome 8, 1719594: 1719594
8 CLN8 NM_018941.3(CLN8): c.374A> G (p.Asn125Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs142269885 GRCh38 Chromosome 8, 1771428: 1771428
9 CLN8 NM_018941.3(CLN8): c.499G> T (p.Glu167Ter) single nucleotide variant Pathogenic/Likely pathogenic rs144495588 GRCh37 Chromosome 8, 1719719: 1719719
10 CLN8 NM_018941.3(CLN8): c.499G> T (p.Glu167Ter) single nucleotide variant Pathogenic/Likely pathogenic rs144495588 GRCh38 Chromosome 8, 1771553: 1771553
11 CLN8 NM_018941.3(CLN8): c.470A> G (p.His157Arg) single nucleotide variant Likely pathogenic rs149308952 GRCh38 Chromosome 8, 1771524: 1771524
12 CLN8 NM_018941.3(CLN8): c.470A> G (p.His157Arg) single nucleotide variant Likely pathogenic rs149308952 GRCh37 Chromosome 8, 1719690: 1719690
13 CLN8 NM_018941.3(CLN8): c.208C> T (p.Arg70Cys) single nucleotide variant no interpretation for the single variant rs765097897 GRCh37 Chromosome 8, 1719428: 1719428
14 CLN8 NM_018941.3(CLN8): c.208C> T (p.Arg70Cys) single nucleotide variant no interpretation for the single variant rs765097897 GRCh38 Chromosome 8, 1771262: 1771262
15 CLN8 NM_018941.3(CLN8): c.70C> G (p.Arg24Gly) single nucleotide variant Pathogenic rs104894064 GRCh37 Chromosome 8, 1719290: 1719290
16 CLN8 NM_018941.3(CLN8): c.70C> G (p.Arg24Gly) single nucleotide variant Pathogenic rs104894064 GRCh38 Chromosome 8, 1771124: 1771124
17 CLN8 NM_018941.3(CLN8): c.789G> C (p.Trp263Cys) single nucleotide variant Pathogenic rs28940569 GRCh37 Chromosome 8, 1728661: 1728661
18 CLN8 NM_018941.3(CLN8): c.789G> C (p.Trp263Cys) single nucleotide variant Pathogenic rs28940569 GRCh38 Chromosome 8, 1780495: 1780495
19 CLN8 NM_018941.3(CLN8): c.610C> T (p.Arg204Cys) single nucleotide variant Likely pathogenic rs104894060 GRCh37 Chromosome 8, 1728482: 1728482
20 CLN8 NM_018941.3(CLN8): c.610C> T (p.Arg204Cys) single nucleotide variant Likely pathogenic rs104894060 GRCh38 Chromosome 8, 1780316: 1780316
21 CLN8 NM_018941.3(CLN8): c.88G> C (p.Ala30Pro) single nucleotide variant Pathogenic rs137852883 GRCh37 Chromosome 8, 1719308: 1719308
22 CLN8 NM_018941.3(CLN8): c.88G> C (p.Ala30Pro) single nucleotide variant Pathogenic rs137852883 GRCh38 Chromosome 8, 1771142: 1771142
23 CLN8 NM_018941.3(CLN8): c.181_183del (p.Lys61del) deletion Pathogenic/Likely pathogenic rs386834123 GRCh37 Chromosome 8, 1719400: 1719402
24 CLN8 NM_018941.3(CLN8): c.181_183del (p.Lys61del) deletion Pathogenic/Likely pathogenic rs386834123 GRCh38 Chromosome 8, 1771234: 1771236
25 CLN8 NM_018941.3(CLN8): c.209G> A (p.Arg70His) single nucleotide variant Conflicting interpretations of pathogenicity rs386834124 GRCh37 Chromosome 8, 1719429: 1719429
26 CLN8 NM_018941.3(CLN8): c.209G> A (p.Arg70His) single nucleotide variant Conflicting interpretations of pathogenicity rs386834124 GRCh38 Chromosome 8, 1771263: 1771263
27 CLN8 NM_018941.3(CLN8): c.227A> G (p.Gln76Arg) single nucleotide variant Likely pathogenic rs386834125 GRCh37 Chromosome 8, 1719447: 1719447
28 CLN8 NM_018941.3(CLN8): c.227A> G (p.Gln76Arg) single nucleotide variant Likely pathogenic rs386834125 GRCh38 Chromosome 8, 1771281: 1771281
29 CLN8 NM_018941.3(CLN8): c.320T> G (p.Ile107Ser) single nucleotide variant Likely pathogenic rs386834126 GRCh37 Chromosome 8, 1719540: 1719540
30 CLN8 NM_018941.3(CLN8): c.320T> G (p.Ile107Ser) single nucleotide variant Likely pathogenic rs386834126 GRCh38 Chromosome 8, 1771374: 1771374
31 CLN8 NM_018941.3(CLN8): c.415C> T (p.His139Tyr) single nucleotide variant Likely pathogenic rs386834127 GRCh37 Chromosome 8, 1719635: 1719635
32 CLN8 NM_018941.3(CLN8): c.415C> T (p.His139Tyr) single nucleotide variant Likely pathogenic rs386834127 GRCh38 Chromosome 8, 1771469: 1771469
33 CLN8 NM_018941.3(CLN8): c.464C> T (p.Ala155Val) single nucleotide variant Likely pathogenic rs386834128 GRCh37 Chromosome 8, 1719684: 1719684
34 CLN8 NM_018941.3(CLN8): c.464C> T (p.Ala155Val) single nucleotide variant Likely pathogenic rs386834128 GRCh38 Chromosome 8, 1771518: 1771518
35 CLN8 NM_018941.3(CLN8): c.46C> A (p.Leu16Met) single nucleotide variant Uncertain significance rs386834129 GRCh37 Chromosome 8, 1719266: 1719266
36 CLN8 NM_018941.3(CLN8): c.46C> A (p.Leu16Met) single nucleotide variant Uncertain significance rs386834129 GRCh38 Chromosome 8, 1771100: 1771100
37 CLN8 NM_018941.3(CLN8): c.473A> G (p.Tyr158Cys) single nucleotide variant Likely pathogenic rs386834130 GRCh37 Chromosome 8, 1719693: 1719693
38 CLN8 NM_018941.3(CLN8): c.473A> G (p.Tyr158Cys) single nucleotide variant Likely pathogenic rs386834130 GRCh38 Chromosome 8, 1771527: 1771527
39 CLN8 NM_018941.3(CLN8): c.507C> T (p.Ser169=) single nucleotide variant Likely benign rs386834131 GRCh37 Chromosome 8, 1719727: 1719727
40 CLN8 NM_018941.3(CLN8): c.507C> T (p.Ser169=) single nucleotide variant Likely benign rs386834131 GRCh38 Chromosome 8, 1771561: 1771561
41 CLN8 NM_018941.3(CLN8): c.509C> T (p.Thr170Met) single nucleotide variant Likely pathogenic rs188259026 GRCh37 Chromosome 8, 1719729: 1719729
42 CLN8 NM_018941.3(CLN8): c.509C> T (p.Thr170Met) single nucleotide variant Likely pathogenic rs188259026 GRCh38 Chromosome 8, 1771563: 1771563
43 CLN8 NM_018941.3(CLN8): c.562_563delCT (p.Leu188Valfs) deletion Likely pathogenic rs386834132 GRCh37 Chromosome 8, 1728434: 1728435
44 CLN8 NM_018941.3(CLN8): c.562_563delCT (p.Leu188Valfs) deletion Likely pathogenic rs386834132 GRCh38 Chromosome 8, 1780268: 1780269
45 CLN8 NM_018941.3(CLN8): c.581A> G (p.Gln194Arg) single nucleotide variant Likely pathogenic rs386834133 GRCh37 Chromosome 8, 1728453: 1728453
46 CLN8 NM_018941.3(CLN8): c.581A> G (p.Gln194Arg) single nucleotide variant Likely pathogenic rs386834133 GRCh38 Chromosome 8, 1780287: 1780287
47 CLN8 NM_018941.3(CLN8): c.611G> T (p.Arg204Leu) single nucleotide variant Uncertain significance rs386834134 GRCh37 Chromosome 8, 1728483: 1728483
48 CLN8 NM_018941.3(CLN8): c.611G> T (p.Arg204Leu) single nucleotide variant Uncertain significance rs386834134 GRCh38 Chromosome 8, 1780317: 1780317
49 CLN8 NM_018941.3(CLN8): c.637_639delTGG (p.Trp213del) deletion Likely pathogenic rs386834135 GRCh37 Chromosome 8, 1728509: 1728511
50 CLN8 NM_018941.3(CLN8): c.637_639delTGG (p.Trp213del) deletion Likely pathogenic rs386834135 GRCh38 Chromosome 8, 1780343: 1780345

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

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