MCID: CRD181
MIFTS: 28

Ceroid Lipofuscinosis, Neuronal, 8

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

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 8

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 8:

Name: Ceroid Lipofuscinosis, Neuronal, 8 57 75 13 73
Neuronal Ceroid Lipofuscinosis 8 12 25 15
Cln8 57 12 75
Cln8 Disease 25 59
Turkish Variant Late Infantile Ncl 75
Northern Epilepsy Syndrome 73

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:

OMIM 57 600143
Disease Ontology 12 DOID:0110723
ICD10 33 E75.4
Orphanet 59 ORPHA228354
ICD10 via Orphanet 34 E75.4
UMLS via Orphanet 74 C1838570
MedGen 42 C1838570
MeSH 44 D009472

Summaries for Ceroid Lipofuscinosis, Neuronal, 8

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)

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, 7, and has symptoms including ataxia, myoclonus and seizures. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 8 is CLN8 (CLN8, Transmembrane ER And ERGIC Protein). The drugs Belinostat and Carboplatin have been mentioned in the context of this disorder. 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 : 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.

UniProtKB/Swiss-Prot : 75 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

Symptoms & Phenotypes for Ceroid Lipofuscinosis, Neuronal, 8

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

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

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 8:


ataxia, myoclonus, seizures, 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
Belinostat Approved, Investigational Phase 1, Phase 2 866323-14-0
2
Carboplatin Approved Phase 1, Phase 2 41575-94-4 10339178 498142 38904
3
Paclitaxel Approved, Vet_approved Phase 1, Phase 2 33069-62-4 36314
4 Albumin-Bound Paclitaxel Phase 1, Phase 2
5 Antimitotic Agents Phase 1, Phase 2
6 Antineoplastic Agents, Phytogenic Phase 1, Phase 2
7 Histone Deacetylase Inhibitors 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

Search NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 8

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 8

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 8

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:

75 (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 59)
# 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.70C> G (p.Arg24Gly) single nucleotide variant Pathogenic rs104894064 GRCh38 Chromosome 8, 1771124: 1771124
3 CLN8 NM_018941.3(CLN8): c.789G> C (p.Trp263Cys) single nucleotide variant Pathogenic rs28940569 GRCh37 Chromosome 8, 1728661: 1728661
4 CLN8 NM_018941.3(CLN8): c.789G> C (p.Trp263Cys) single nucleotide variant Pathogenic rs28940569 GRCh38 Chromosome 8, 1780495: 1780495
5 CLN8 NM_018941.3(CLN8): c.610C> T (p.Arg204Cys) single nucleotide variant Likely pathogenic rs104894060 GRCh37 Chromosome 8, 1728482: 1728482
6 CLN8 NM_018941.3(CLN8): c.610C> T (p.Arg204Cys) single nucleotide variant Likely pathogenic rs104894060 GRCh38 Chromosome 8, 1780316: 1780316
7 CLN8 CLN8, 1-BP DEL, 88G deletion Pathogenic
8 CLN8 NM_018941.3(CLN8): c.88G> C (p.Ala30Pro) single nucleotide variant Pathogenic rs137852883 GRCh37 Chromosome 8, 1719308: 1719308
9 CLN8 NM_018941.3(CLN8): c.88G> C (p.Ala30Pro) single nucleotide variant Pathogenic rs137852883 GRCh38 Chromosome 8, 1771142: 1771142
10 CLN8 CLN8, 1-BP DEL, 66G deletion Pathogenic
11 CLN8 CLN8, 3-BP DEL, 180GAA deletion Pathogenic
12 CLN8 NM_018941.3(CLN8): c.180_182delGAA (p.Lys61del) deletion Likely pathogenic rs386834123 GRCh37 Chromosome 8, 1719400: 1719402
13 CLN8 NM_018941.3(CLN8): c.180_182delGAA (p.Lys61del) deletion Likely pathogenic rs386834123 GRCh38 Chromosome 8, 1771234: 1771236
14 CLN8 NM_018941.3(CLN8): c.227A> G (p.Gln76Arg) single nucleotide variant Likely pathogenic rs386834125 GRCh37 Chromosome 8, 1719447: 1719447
15 CLN8 NM_018941.3(CLN8): c.227A> G (p.Gln76Arg) single nucleotide variant Likely pathogenic rs386834125 GRCh38 Chromosome 8, 1771281: 1771281
16 CLN8 NM_018941.3(CLN8): c.320T> G (p.Ile107Ser) single nucleotide variant Likely pathogenic rs386834126 GRCh37 Chromosome 8, 1719540: 1719540
17 CLN8 NM_018941.3(CLN8): c.320T> G (p.Ile107Ser) single nucleotide variant Likely pathogenic rs386834126 GRCh38 Chromosome 8, 1771374: 1771374
18 CLN8 NM_018941.3(CLN8): c.415C> T (p.His139Tyr) single nucleotide variant Likely pathogenic rs386834127 GRCh37 Chromosome 8, 1719635: 1719635
19 CLN8 NM_018941.3(CLN8): c.415C> T (p.His139Tyr) single nucleotide variant Likely pathogenic rs386834127 GRCh38 Chromosome 8, 1771469: 1771469
20 CLN8 NM_018941.3(CLN8): c.464C> T (p.Ala155Val) single nucleotide variant Likely pathogenic rs386834128 GRCh37 Chromosome 8, 1719684: 1719684
21 CLN8 NM_018941.3(CLN8): c.464C> T (p.Ala155Val) single nucleotide variant Likely pathogenic rs386834128 GRCh38 Chromosome 8, 1771518: 1771518
22 CLN8 NM_018941.3(CLN8): c.473A> G (p.Tyr158Cys) single nucleotide variant Likely pathogenic rs386834130 GRCh37 Chromosome 8, 1719693: 1719693
23 CLN8 NM_018941.3(CLN8): c.473A> G (p.Tyr158Cys) single nucleotide variant Likely pathogenic rs386834130 GRCh38 Chromosome 8, 1771527: 1771527
24 CLN8 NM_018941.3(CLN8): c.507C> T (p.Ser169=) single nucleotide variant Likely pathogenic rs386834131 GRCh37 Chromosome 8, 1719727: 1719727
25 CLN8 NM_018941.3(CLN8): c.507C> T (p.Ser169=) single nucleotide variant Likely pathogenic rs386834131 GRCh38 Chromosome 8, 1771561: 1771561
26 CLN8 NM_018941.3(CLN8): c.509C> T (p.Thr170Met) single nucleotide variant Likely pathogenic rs188259026 GRCh37 Chromosome 8, 1719729: 1719729
27 CLN8 NM_018941.3(CLN8): c.509C> T (p.Thr170Met) single nucleotide variant Likely pathogenic rs188259026 GRCh38 Chromosome 8, 1771563: 1771563
28 CLN8 NM_018941.3(CLN8): c.562_563delCT (p.Leu188Valfs) deletion Likely pathogenic rs386834132 GRCh37 Chromosome 8, 1728434: 1728435
29 CLN8 NM_018941.3(CLN8): c.562_563delCT (p.Leu188Valfs) deletion Likely pathogenic rs386834132 GRCh38 Chromosome 8, 1780268: 1780269
30 CLN8 NM_018941.3(CLN8): c.581A> G (p.Gln194Arg) single nucleotide variant Likely pathogenic rs386834133 GRCh37 Chromosome 8, 1728453: 1728453
31 CLN8 NM_018941.3(CLN8): c.581A> G (p.Gln194Arg) single nucleotide variant Likely pathogenic rs386834133 GRCh38 Chromosome 8, 1780287: 1780287
32 CLN8 NM_018941.3(CLN8): c.637_639delTGG (p.Trp213del) deletion Likely pathogenic rs386834135 GRCh37 Chromosome 8, 1728509: 1728511
33 CLN8 NM_018941.3(CLN8): c.637_639delTGG (p.Trp213del) deletion Likely pathogenic rs386834135 GRCh38 Chromosome 8, 1780343: 1780345
34 CLN8 NM_018941.3(CLN8): c.66delG (p.Ile23Serfs) deletion Likely pathogenic rs386834137 GRCh37 Chromosome 8, 1719286: 1719286
35 CLN8 NM_018941.3(CLN8): c.66delG (p.Ile23Serfs) deletion Likely pathogenic rs386834137 GRCh38 Chromosome 8, 1771120: 1771120
36 CLN8 NM_018941.3(CLN8): c.766C> G (p.Gln256Glu) single nucleotide variant Likely pathogenic rs386834138 GRCh37 Chromosome 8, 1728638: 1728638
37 CLN8 NM_018941.3(CLN8): c.766C> G (p.Gln256Glu) single nucleotide variant Likely pathogenic rs386834138 GRCh38 Chromosome 8, 1780472: 1780472
38 CLN8 NM_018941.3(CLN8): c.88delG (p.Ala30Leufs) deletion Likely pathogenic rs386834139 GRCh37 Chromosome 8, 1719308: 1719308
39 CLN8 NM_018941.3(CLN8): c.88delG (p.Ala30Leufs) deletion Likely pathogenic rs386834139 GRCh38 Chromosome 8, 1771142: 1771142
40 CLN8 NM_018941.3(CLN8): c.792C> G (p.Asn264Lys) single nucleotide variant Pathogenic rs587779411 GRCh37 Chromosome 8, 1728664: 1728664
41 CLN8 NM_018941.3(CLN8): c.792C> G (p.Asn264Lys) single nucleotide variant Pathogenic rs587779411 GRCh38 Chromosome 8, 1780498: 1780498
42 CLN8 NM_018941.3(CLN8): c.709G> A (p.Gly237Arg) single nucleotide variant Likely pathogenic rs746645358 GRCh37 Chromosome 8, 1728581: 1728581
43 CLN8 NM_018941.3(CLN8): c.709G> A (p.Gly237Arg) single nucleotide variant Likely pathogenic rs746645358 GRCh38 Chromosome 8, 1780415: 1780415
44 CLN8 NM_018941.3(CLN8): c.806A> T (p.Glu269Val) single nucleotide variant Conflicting interpretations of pathogenicity rs139003032 GRCh37 Chromosome 8, 1728678: 1728678
45 CLN8 NM_018941.3(CLN8): c.806A> T (p.Glu269Val) single nucleotide variant Conflicting interpretations of pathogenicity rs139003032 GRCh38 Chromosome 8, 1780512: 1780512
46 CLN8 NM_018941.3(CLN8): c.50A> G (p.Asp17Gly) single nucleotide variant Uncertain significance rs148668081 GRCh38 Chromosome 8, 1771104: 1771104
47 CLN8 NM_018941.3(CLN8): c.50A> G (p.Asp17Gly) single nucleotide variant Uncertain significance rs148668081 GRCh37 Chromosome 8, 1719270: 1719270
48 CLN8 NM_018941.3(CLN8): c.470A> G (p.His157Arg) single nucleotide variant Likely pathogenic rs149308952 GRCh38 Chromosome 8, 1771524: 1771524
49 CLN8 NM_018941.3(CLN8): c.470A> G (p.His157Arg) single nucleotide variant Likely pathogenic rs149308952 GRCh37 Chromosome 8, 1719690: 1719690
50 CLN8 NM_018941.3(CLN8): c.212C> T (p.Ala71Val) single nucleotide variant no interpretation for the single variant rs863224859 GRCh38 Chromosome 8, 1771266: 1771266

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

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