CLN8
MCID: CRD181
MIFTS: 37

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 Belinostat and Paclitaxel have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and cortex, 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 23)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 12.9
2 ceroid lipofuscinosis, neuronal, 1 12.0
3 epilepsy 11.8
4 neuronal ceroid lipofuscinosis 11.8
5 neuronal ceroid-lipofuscinoses 11.7
6 ceroid lipofuscinosis, neuronal, 7 11.5
7 ceroid lipofuscinosis, neuronal, 2 11.2
8 ceroid lipofuscinosis, neuronal, 3 11.1
9 ceroid storage disease 11.1
10 retinitis pigmentosa 22 11.1
11 ceroid lipofuscinosis, neuronal, 9 11.1
12 ceroid lipofuscinosis, neuronal, 10 11.1
13 ceroid lipofuscinosis, neuronal, 11 11.1
14 ceroid lipofuscinosis, neuronal, 13 11.1
15 complex partial epilepsy 11.1
16 visual pathway disease 11.1
17 visual cortex disease 11.1
18 lipid storage disease 11.0
19 ceroid lipofuscinosis, neuronal, 5 10.3
20 autism 10.0
21 autism spectrum disorder 10.0
22 gaucher's disease 10.0
23 heparin-induced thrombocytopenia 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
Belinostat Approved, Investigational Phase 1, Phase 2 866323-14-0
2
Paclitaxel Approved, Vet_approved Phase 1, Phase 2 33069-62-4 36314
3
Carboplatin Approved Phase 1, Phase 2 41575-94-4 10339178 38904 498142
4 Antimitotic Agents Phase 1, Phase 2
5 Histone Deacetylase Inhibitors Phase 1, Phase 2
6 Albumin-Bound Paclitaxel 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, Brain, Cortex

Publications for Ceroid Lipofuscinosis, Neuronal, 8

Articles related to Ceroid Lipofuscinosis, Neuronal, 8:

(show all 36)
# Title Authors Year
1
Congenital CLN8 disease of neuronal ceroid lipofuscinosis: a novel phenotype. ( 30741402 )
2019
2
The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function. ( 30919163 )
2019
3
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. ( 29422019 )
2018
4
Neuronal ceroid lipofuscinosis in Salukis is caused by a single base pair insertion in CLN8. ( 29446145 )
2018
5
Neuronal ceroid lipofuscinosis related ER membrane protein CLN8 regulates PP2A activity and ceramide levels. ( 30453012 )
2018
6
CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis. ( 30397314 )
2018
7
CLN8 safeguards lysosome biogenesis. ( 30397316 )
2018
8
Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog. ( 28024876 )
2017
9
Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy. ( 27844444 )
2017
10
CLN8 disease caused by large genomic deletions. ( 28116333 )
2017
11
Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan. ( 26443629 )
2016
12
Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population. ( 26657971 )
2015
13
A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry. ( 24953404 )
2014
14
Identifying protein partners of CLN8, an ER-resident protein involved in neuronal ceroid lipofuscinosis. ( 23142642 )
2013
15
Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion. ( 22220808 )
2012
16
Selective spatiotemporal patterns of glial activation and neuron loss in the sensory thalamocortical pathways of neuronal ceroid lipofuscinosis 8 mice. ( 22569358 )
2012
17
CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches. ( 23160995 )
2012
18
Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation. ( 22388998 )
2012
19
Acyl chain specificity of ceramide synthases is determined within a region of 150 residues in the Tram-Lag-CLN8 (TLC) domain. ( 22144673 )
2012
20
Phenotypic heterogeneity in consanguineous patients with a common CLN8 mutation. ( 22964447 )
2012
21
Different early ER-stress responses in the CLN8(mnd) mouse model of neuronal ceroid lipofuscinosis. ( 21094208 )
2011
22
Deficient mitochondrial Ca(2+) buffering in the Cln8(mnd) mouse model of neuronal ceroid lipofuscinosis. ( 21917311 )
2011
23
Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. ( 19807737 )
2010
24
A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function. ( 19431184 )
2009
25
Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations. ( 17129765 )
2007
26
A novel mutation of the CLN8 gene: is there a Mediterranean phenotype? ( 17560505 )
2007
27
Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean. ( 16570191 )
2006
28
A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis. ( 15629147 )
2005
29
The neuronal ceroid lipofuscinosis Cln8 gene expression is developmentally regulated in mouse brain and up-regulated in the hippocampal kindling model of epilepsy. ( 15826318 )
2005
30
Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells. ( 15160397 )
2004
31
TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains? ( 12151215 )
2002
32
Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8. ( 11589000 )
2001
33
Studies of homogenous populations: CLN5 and CLN8. ( 11332769 )
2001
34
Northern epilepsy syndrome (NES, CLN8)--MRI and electrophysiological studies. ( 11588991 )
2001
35
The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. ( 10861296 )
2000
36
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. ( 10508524 )
1999

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 104)
# 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 NM_018941.3(CLN8): c.88G> C (p.Ala30Pro) single nucleotide variant Pathogenic rs137852883 GRCh37 Chromosome 8, 1719308: 1719308
8 CLN8 NM_018941.3(CLN8): c.88G> C (p.Ala30Pro) single nucleotide variant Pathogenic rs137852883 GRCh38 Chromosome 8, 1771142: 1771142
9 CLN8 NM_018941.3(CLN8): c.181_183del (p.Lys61del) deletion Pathogenic/Likely pathogenic rs386834123 GRCh37 Chromosome 8, 1719400: 1719402
10 CLN8 NM_018941.3(CLN8): c.181_183del (p.Lys61del) deletion Pathogenic/Likely pathogenic rs386834123 GRCh38 Chromosome 8, 1771234: 1771236
11 CLN8 NM_018941.3(CLN8): c.209G> A (p.Arg70His) single nucleotide variant Conflicting interpretations of pathogenicity rs386834124 GRCh37 Chromosome 8, 1719429: 1719429
12 CLN8 NM_018941.3(CLN8): c.209G> A (p.Arg70His) single nucleotide variant Conflicting interpretations of pathogenicity rs386834124 GRCh38 Chromosome 8, 1771263: 1771263
13 CLN8 NM_018941.3(CLN8): c.227A> G (p.Gln76Arg) single nucleotide variant Likely pathogenic rs386834125 GRCh37 Chromosome 8, 1719447: 1719447
14 CLN8 NM_018941.3(CLN8): c.227A> G (p.Gln76Arg) single nucleotide variant Likely pathogenic rs386834125 GRCh38 Chromosome 8, 1771281: 1771281
15 CLN8 NM_018941.3(CLN8): c.320T> G (p.Ile107Ser) single nucleotide variant Likely pathogenic rs386834126 GRCh37 Chromosome 8, 1719540: 1719540
16 CLN8 NM_018941.3(CLN8): c.320T> G (p.Ile107Ser) single nucleotide variant Likely pathogenic rs386834126 GRCh38 Chromosome 8, 1771374: 1771374
17 CLN8 NM_018941.3(CLN8): c.415C> T (p.His139Tyr) single nucleotide variant Likely pathogenic rs386834127 GRCh37 Chromosome 8, 1719635: 1719635
18 CLN8 NM_018941.3(CLN8): c.415C> T (p.His139Tyr) single nucleotide variant Likely pathogenic rs386834127 GRCh38 Chromosome 8, 1771469: 1771469
19 CLN8 NM_018941.3(CLN8): c.464C> T (p.Ala155Val) single nucleotide variant Likely pathogenic rs386834128 GRCh37 Chromosome 8, 1719684: 1719684
20 CLN8 NM_018941.3(CLN8): c.464C> T (p.Ala155Val) single nucleotide variant Likely pathogenic rs386834128 GRCh38 Chromosome 8, 1771518: 1771518
21 CLN8 NM_018941.3(CLN8): c.46C> A (p.Leu16Met) single nucleotide variant Uncertain significance rs386834129 GRCh37 Chromosome 8, 1719266: 1719266
22 CLN8 NM_018941.3(CLN8): c.46C> A (p.Leu16Met) single nucleotide variant Uncertain significance rs386834129 GRCh38 Chromosome 8, 1771100: 1771100
23 CLN8 NM_018941.3(CLN8): c.473A> G (p.Tyr158Cys) single nucleotide variant Likely pathogenic rs386834130 GRCh37 Chromosome 8, 1719693: 1719693
24 CLN8 NM_018941.3(CLN8): c.473A> G (p.Tyr158Cys) single nucleotide variant Likely pathogenic rs386834130 GRCh38 Chromosome 8, 1771527: 1771527
25 CLN8 NM_018941.3(CLN8): c.507C> T (p.Ser169=) single nucleotide variant Likely benign rs386834131 GRCh37 Chromosome 8, 1719727: 1719727
26 CLN8 NM_018941.3(CLN8): c.507C> T (p.Ser169=) single nucleotide variant Likely benign rs386834131 GRCh38 Chromosome 8, 1771561: 1771561
27 CLN8 NM_018941.3(CLN8): c.509C> T (p.Thr170Met) single nucleotide variant Likely pathogenic rs188259026 GRCh37 Chromosome 8, 1719729: 1719729
28 CLN8 NM_018941.3(CLN8): c.509C> T (p.Thr170Met) single nucleotide variant Likely pathogenic rs188259026 GRCh38 Chromosome 8, 1771563: 1771563
29 CLN8 NM_018941.3(CLN8): c.562_563delCT (p.Leu188Valfs) deletion Likely pathogenic rs386834132 GRCh37 Chromosome 8, 1728434: 1728435
30 CLN8 NM_018941.3(CLN8): c.562_563delCT (p.Leu188Valfs) deletion Likely pathogenic rs386834132 GRCh38 Chromosome 8, 1780268: 1780269
31 CLN8 NM_018941.3(CLN8): c.581A> G (p.Gln194Arg) single nucleotide variant Likely pathogenic rs386834133 GRCh37 Chromosome 8, 1728453: 1728453
32 CLN8 NM_018941.3(CLN8): c.581A> G (p.Gln194Arg) single nucleotide variant Likely pathogenic rs386834133 GRCh38 Chromosome 8, 1780287: 1780287
33 CLN8 NM_018941.3(CLN8): c.611G> T (p.Arg204Leu) single nucleotide variant Uncertain significance rs386834134 GRCh37 Chromosome 8, 1728483: 1728483
34 CLN8 NM_018941.3(CLN8): c.611G> T (p.Arg204Leu) single nucleotide variant Uncertain significance rs386834134 GRCh38 Chromosome 8, 1780317: 1780317
35 CLN8 NM_018941.3(CLN8): c.637_639delTGG (p.Trp213del) deletion Likely pathogenic rs386834135 GRCh37 Chromosome 8, 1728509: 1728511
36 CLN8 NM_018941.3(CLN8): c.637_639delTGG (p.Trp213del) deletion Likely pathogenic rs386834135 GRCh38 Chromosome 8, 1780343: 1780345
37 CLN8 NM_018941.3(CLN8): c.661G> A (p.Gly221Ser) single nucleotide variant Uncertain significance rs386834136 GRCh37 Chromosome 8, 1728533: 1728533
38 CLN8 NM_018941.3(CLN8): c.661G> A (p.Gly221Ser) single nucleotide variant Uncertain significance rs386834136 GRCh38 Chromosome 8, 1780367: 1780367
39 CLN8 NM_018941.3(CLN8): c.66delG (p.Ile23Serfs) deletion Pathogenic/Likely pathogenic rs34238807 GRCh37 Chromosome 8, 1719286: 1719286
40 CLN8 NM_018941.3(CLN8): c.66delG (p.Ile23Serfs) deletion Pathogenic/Likely pathogenic rs34238807 GRCh38 Chromosome 8, 1771120: 1771120
41 CLN8 NM_018941.3(CLN8): c.766C> G (p.Gln256Glu) single nucleotide variant Likely pathogenic rs386834138 GRCh37 Chromosome 8, 1728638: 1728638
42 CLN8 NM_018941.3(CLN8): c.766C> G (p.Gln256Glu) single nucleotide variant Likely pathogenic rs386834138 GRCh38 Chromosome 8, 1780472: 1780472
43 CLN8 NM_018941.3(CLN8): c.88delG (p.Ala30Leufs) deletion Pathogenic/Likely pathogenic rs386834139 GRCh37 Chromosome 8, 1719308: 1719308
44 CLN8 NM_018941.3(CLN8): c.88delG (p.Ala30Leufs) deletion Pathogenic/Likely pathogenic rs386834139 GRCh38 Chromosome 8, 1771142: 1771142
45 CLN8 NM_018941.3(CLN8): c.685C> G (p.Pro229Ala) single nucleotide variant Benign rs150047904 GRCh37 Chromosome 8, 1728557: 1728557
46 CLN8 NM_018941.3(CLN8): c.685C> G (p.Pro229Ala) single nucleotide variant Benign rs150047904 GRCh38 Chromosome 8, 1780391: 1780391
47 CLN8 NM_018941.3(CLN8): c.792C> G (p.Asn264Lys) single nucleotide variant Pathogenic rs587779411 GRCh37 Chromosome 8, 1728664: 1728664
48 CLN8 NM_018941.3(CLN8): c.792C> G (p.Asn264Lys) single nucleotide variant Pathogenic rs587779411 GRCh38 Chromosome 8, 1780498: 1780498
49 CLN8 NM_018941.3(CLN8): c.709G> A (p.Gly237Arg) single nucleotide variant Likely pathogenic rs746645358 GRCh37 Chromosome 8, 1728581: 1728581
50 CLN8 NM_018941.3(CLN8): c.709G> A (p.Gly237Arg) single nucleotide variant Likely pathogenic rs746645358 GRCh38 Chromosome 8, 1780415: 1780415

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....