CLN5
MCID: CRD184
MIFTS: 44

Ceroid Lipofuscinosis, Neuronal, 5 (CLN5)

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

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 5

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 5:

Name: Ceroid Lipofuscinosis, Neuronal, 5 58 76 13 74
Neuronal Ceroid Lipofuscinosis 5 12 54 26 15
Cln5 58 12 54 76
Finnish Variant Late Infantile Neuronal Ceroid Lipofuscinosis 26 76
Ceroid Lipofuscinosis Neuronal 5 30 6
Cln5 Disease 26 60
Vlincl 26 76
Neuronal Ceroid Lipofuscinosis 5 with Variable Age at Onset 76
Ceroid Lipofuscinosis, Neuronal, 5, Variable Age at Onset 58
Neuronal Ceroid Lipofuscinosis 5 Variable Age of Onset 12
Neuronal Ceroid Lipofuscinosis Finnish Variant 54
Neuronal Ceroid Lipofuscinosis, Late-Infantile 26
Late-Infantile Neuronal Ceroid Lipofuscinosis 26
Late-Infantile Neuronal Ceroid Lipfuscinosis 74
Lipofuscinosis, Ceroid, Neuronal, Type 5 41
Ceroid Lipofuscinosis, Neuronal, 6 74
Cln5 Disease, Late Infantile 54
Jansky-Bielschowsky Disease 26
Cln5 Disease, Juvenile 54
Cln5 Disease, Adult 54
Finnish Vlincl 26
Finnish 76

Characteristics:

Orphanet epidemiological data:

60
cln5 disease
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at 4 to 7 years
later onset can also occur (up to age 17 years)
death at 13 to 30 years
one family with late-adult onset and cerebellar ataxia has been reported (last curated february 2015)


HPO:

33
ceroid lipofuscinosis, neuronal, 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110728
OMIM 58 256731
MeSH 45 D009472
ICD10 34 E75.4
ICD10 via Orphanet 35 E75.4
UMLS via Orphanet 75 C1850442
Orphanet 60 ORPHA228360
MedGen 43 C1850442

Summaries for Ceroid Lipofuscinosis, Neuronal, 5

Genetics Home Reference : 26 CLN5 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition can begin anytime between childhood and early adulthood, but they typically appear around age 5. Children with CLN5 disease often have normal development until they experience the first signs of the condition, which are usually problems with movement and a loss of previously acquired motor skills (developmental regression). Other features of the condition include recurrent seizures that involve uncontrollable muscle jerks (myoclonic epilepsy), difficulty coordinating movements (ataxia), vision loss, and a decline in intellectual function. The life expectancy of people with CLN5 disease varies; affected individuals usually survive into adolescence or mid-adulthood.

MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 5, also known as neuronal ceroid lipofuscinosis 5, is related to neuronal ceroid lipofuscinosis and ceroid lipofuscinosis, neuronal, 2, and has symptoms including seizures, ataxia and myoclonus. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 5 is CLN5 (CLN5 Intracellular Trafficking Protein). Affiliated tissues include liver, heart and prostate, and related phenotypes are nystagmus and dysarthria

Disease Ontology : 12 A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has material basis in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22.

NIH Rare Diseases : 54 Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.

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 CLN5 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730). (256731)

UniProtKB/Swiss-Prot : 76 Ceroid lipofuscinosis, neuronal, 5: A form of neuronal ceroid lipofuscinosis. 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 5 comprise mixed combinations of granular, curvilinear, and fingerprint profiles.

Related Diseases for Ceroid Lipofuscinosis, Neuronal, 5

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, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 567)
# Related Disease Score Top Affiliating Genes
1 neuronal ceroid lipofuscinosis 29.6 CLN5 FBXL3
2 ceroid lipofuscinosis, neuronal, 2 12.6
3 amyloidosis, finnish type 12.6
4 congenital nephrotic syndrome finnish type 12.5
5 familial amyloidosis, finnish type 12.4
6 epilepsy mental deterioration finnish type 12.0
7 salla disease 12.0
8 gracile syndrome 11.9
9 nephrotic syndrome, type 1 11.8
10 neuronal ceroid-lipofuscinoses 11.7
11 diarrhea 1, secretory chloride, congenital 11.6
12 ceroid lipofuscinosis, neuronal, 6 11.5
13 ceroid storage disease 11.5
14 nephrotic syndrome 11.4
15 familial nephrotic syndrome 11.4
16 cartilage-hair hypoplasia 11.4
17 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 11.3
18 rapadilino syndrome 11.3
19 lethal congenital contracture syndrome 1 11.3
20 tibial muscular dystrophy, tardive 11.3
21 tibial muscular dystrophy 11.3
22 sialuria 11.3
23 congenital chloride diarrhea 11.3
24 visual epilepsy 11.2
25 megaloblastic anemia 1 11.2
26 peho syndrome 11.2
27 lethal congenital contracture syndrome 11.2
28 aspartylglucosaminuria 11.1
29 ceroid lipofuscinosis, neuronal, 9 11.1
30 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 11.1
31 ceroid lipofuscinosis, neuronal, 10 11.1
32 ceroid lipofuscinosis, neuronal, 7 11.1
33 ceroid lipofuscinosis, neuronal, 11 11.1
34 ceroid lipofuscinosis, neuronal, 13 11.1
35 lipid storage disease 11.1
36 free sialic acid storage disorders 11.1
37 lattice corneal dystrophy type ii 11.1
38 amyloidosis, hereditary, transthyretin-related 11.0
39 bone dysplasia, lethal, holmgren type 11.0
40 mitochondrial dna depletion syndrome 7 11.0
41 fundus dystrophy, pseudoinflammatory, recessive form 11.0
42 infantile sialic acid storage disease 11.0
43 myopathy, distal, 3 11.0
44 lattice corneal dystrophy 11.0
45 pseudoinflammatory fundus dystrophy 11.0
46 spinocerebellar ataxia, autosomal recessive 7 10.5
47 ceroid lipofuscinosis, neuronal, 3 10.4
48 ceroid lipofuscinosis, neuronal, 1 10.4
49 amyloidosis 10.4
50 spinocerebellar ataxia 7 10.3

Graphical network of the top 20 diseases related to Ceroid Lipofuscinosis, Neuronal, 5:



Diseases related to Ceroid Lipofuscinosis, Neuronal, 5

Symptoms & Phenotypes for Ceroid Lipofuscinosis, Neuronal, 5

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 5:

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 occasional (7.5%) HP:0000639
2 dysarthria 33 occasional (7.5%) HP:0001260
3 dysmetria 33 occasional (7.5%) HP:0001310
4 dysdiadochokinesis 33 occasional (7.5%) HP:0002075
5 cerebellar atrophy 33 occasional (7.5%) HP:0001272
6 intellectual disability 33 HP:0001249
7 seizures 33 HP:0001250
8 ataxia 33 HP:0001251
9 developmental regression 33 HP:0002376
10 progressive visual loss 33 HP:0000529
11 myoclonus 33 HP:0001336
12 motor deterioration 33 HP:0002333
13 clumsiness 33 HP:0002312
14 retinal degeneration 33 HP:0000546
15 increased neuronal autofluorescent lipopigment 33 HP:0002074
16 curvilinear intracellular accumulation of autofluorescent lipopigment storage material 33 HP:0003205
17 fingerprint intracellular accumulation of autofluorescent lipopigment storage material 33 HP:0003208
18 rectilinear intracellular accumulation of autofluorescent lipopigment storage material 33 HP:0003226
19 abnormal nervous system electrophysiology 33 HP:0001311

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
ataxia
developmental regression
myoclonus
motor deterioration
more
Laboratory Abnormalities:
'fingerprint' profiles ultrastructurally
'curvilinear' profiles ultrastructurally
'rectilinear' profiles ultrastructurally

Head And Neck Eyes:
retinal degeneration
vision loss, progressive
nystagmus (1 family)

Neurologic Behavioral Psychiatric Manifestations:
concentration difficulties

Clinical features from OMIM:

256731

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 5:


seizures, ataxia, myoclonus, clumsiness

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 5

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Natural History Study of Late Infantile Variant CLN7 And CLN5 Disease Recruiting NCT03822650
2 Clinical and Neuropsychological Investigations in Batten Disease Recruiting NCT01873924

Search NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 5

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 5

Genetic tests related to Ceroid Lipofuscinosis, Neuronal, 5:

# Genetic test Affiliating Genes
1 Ceroid Lipofuscinosis Neuronal 5 30 CLN5

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 5

MalaCards organs/tissues related to Ceroid Lipofuscinosis, Neuronal, 5:

42
Liver, Heart, Prostate, Brain, Lung, Eye, Bone

Publications for Ceroid Lipofuscinosis, Neuronal, 5

Articles related to Ceroid Lipofuscinosis, Neuronal, 5:

(show top 50) (show all 65)
# Title Authors Year
1
Autophagy-lysosome pathway alterations and alpha-synuclein up-regulation in the subtype of neuronal ceroid lipofuscinosis, CLN5 disease. ( 30655561 )
2019
2
A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs. ( 31101435 )
2019
3
The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function. ( 30919163 )
2019
4
Novel Mutations in CLN5 of Chinese Patients With Neuronal Ceroid Lipofuscinosis. ( 30264640 )
2018
5
An Alzheimer's Disease-Linked Loss-of-Function CLN5 Variant Impairs Cathepsin D Maturation, Consistent with a Retromer Trafficking Defect. ( 30037983 )
2018
6
Cln5 is secreted and functions as a glycoside hydrolase in Dictyostelium. ( 29128403 )
2018
7
Secretion and function of Cln5 during the early stages of Dictyostelium development. ( 30048658 )
2018
8
Longitudinal In Vivo Monitoring of the CNS Demonstrates the Efficacy of Gene Therapy in a Sheep Model of CLN5 Batten Disease. ( 30078766 )
2018
9
Induced Pluripotent Stem Cells Derived from a CLN5 Patient Manifest Phenotypic Characteristics of Neuronal Ceroid Lipofuscinoses. ( 28468312 )
2017
10
Retinal Degeneration In A Mouse Model Of CLN5 Disease Is Associated With Compromised Autophagy. ( 28487519 )
2017
11
Characterisation of early changes in ovine CLN5 and CLN6 Batten disease neural cultures for the rapid screening of therapeutics. ( 28065762 )
2017
12
CLN5 is cleaved by members of the SPP/SPPL family to produce a mature soluble protein. ( 28442266 )
2017
13
The value of a comprehensive natural history in late infantile CLN5 disease. ( 28556060 )
2017
14
Loss of Cln5 causes altered neurogenesis in a mouse model of a childhood neurodegenerative disorder. ( 28733362 )
2017
15
Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies. ( 27203721 )
2016
16
Data on characterizing the gene expression patterns of neuronal ceroid lipofuscinosis genes: CLN1, CLN2, CLN3, CLN5 and their association to interneuron and neurotransmission markers: Parvalbumin and Somatostatin. ( 27508227 )
2016
17
An EEG Investigation of Sleep Homeostasis in Healthy and CLN5 Batten Disease Affected Sheep. ( 27488642 )
2016
18
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. ( 25359263 )
2015
19
Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5. ( 25934231 )
2015
20
Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. ( 26342652 )
2015
21
Translational neurophysiology in sheep: measuring sleep and neurological dysfunction in CLN5 Batten disease affected sheep. ( 25724202 )
2015
22
Molecular neuropathology of the synapse in sheep with CLN5 Batten disease. ( 26664787 )
2015
23
Neuronal ceroid lipofuscinosis genes, CLN2, CLN3 and CLN5 are spatially and temporally co-expressed in a developing mouse brain. ( 25303899 )
2014
24
Inhibition of storage pathology in prenatal CLN5-deficient sheep neural cultures by lentiviral gene therapy. ( 24269732 )
2014
25
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. ( 24038957 )
2013
26
The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5. ( 24058541 )
2013
27
Cln5-deficiency in mice leads to microglial activation, defective myelination and changes in lipid metabolism. ( 22182690 )
2012
28
The role of ceroid lipofuscinosis neuronal protein 5 (CLN5) in endosomal sorting. ( 22431521 )
2012
29
CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches. ( 23160995 )
2012
30
Neuronal ceroid lipofuscinosis in Qatar: report of a novel mutation in ceroid-lipofuscinosis, neuronal 5 in the Arab population. ( 21447811 )
2011
31
The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. ( 20052765 )
2010
32
CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL. ( 20157158 )
2010
33
Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship. ( 19309691 )
2009
34
Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins. ( 19941651 )
2009
35
Progressive thalamocortical neuron loss in Cln5 deficient mice: Distinct effects in Finnish variant late infantile NCL. ( 19385065 )
2009
36
A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c.571+1G>A) leading to excision of exon 3. ( 17988881 )
2008
37
The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland. ( 18684116 )
2008
38
Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant. ( 20960652 )
2008
39
Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, Finnish Variant. ( 20960661 )
2008
40
Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases. ( 18371231 )
2008
41
Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. ( 17607606 )
2007
42
Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 gene. ( 16935476 )
2006
43
Radiation hybrid mapping of three candidate genes for bovine Neuronal Ceroid Lipofuscinosis: CLN3, CLN5 and CLN6. ( 16974076 )
2006
44
Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency. ( 16814585 )
2006
45
A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset. ( 15728307 )
2005
46
A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs. ( 16033706 )
2005
47
The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain. ( 15207259 )
2004
48
A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging. ( 15459177 )
2004
49
Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant. ( 15349861 )
2004
50
Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein. ( 11971870 )
2002

Variations for Ceroid Lipofuscinosis, Neuronal, 5

UniProtKB/Swiss-Prot genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 5:

76 (show all 12)
# Symbol AA change Variation ID SNP ID
1 CLN5 p.Asp230Asn VAR_005137 rs28940280
2 CLN5 p.Arg63His VAR_042700 rs104894386
3 CLN5 p.Tyr209Asp VAR_042701 rs386833981
4 CLN5 p.Arg63Pro VAR_042702 rs104894386
5 CLN5 p.Trp330Cys VAR_059032 rs386833968
6 CLN5 p.Cys77Tyr VAR_066896 rs267606738
7 CLN5 p.Asn143Ser VAR_066897 rs386833975
8 CLN5 p.Leu149Pro VAR_066898 rs386833976
9 CLN5 p.Pro156Ser VAR_066899 rs386833977
10 CLN5 p.Trp158Arg VAR_066900 rs147065248
11 CLN5 p.Trp158Ser VAR_066901 rs386833978
12 CLN5 p.Tyr325Cys VAR_066903 rs148862100

ClinVar genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 5:

6 (show top 50) (show all 148)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLN5 NM_006493.2(CLN5): c.1175_1176delAT (p.Tyr392Terfs) deletion Pathogenic rs386833969 GRCh37 Chromosome 13, 77575055: 77575056
2 CLN5 NM_006493.2(CLN5): c.1175_1176delAT (p.Tyr392Terfs) deletion Pathogenic rs386833969 GRCh38 Chromosome 13, 77000920: 77000921
3 CLN5 NM_006493.2(CLN5): c.225G> A (p.Trp75Ter) single nucleotide variant Pathogenic rs104894385 GRCh37 Chromosome 13, 77566311: 77566311
4 CLN5 NM_006493.2(CLN5): c.225G> A (p.Trp75Ter) single nucleotide variant Pathogenic rs104894385 GRCh38 Chromosome 13, 76992176: 76992176
5 CLN5 NM_006493.2(CLN5): c.835G> A (p.Asp279Asn) single nucleotide variant Pathogenic rs28940280 GRCh37 Chromosome 13, 77574715: 77574715
6 CLN5 NM_006493.2(CLN5): c.835G> A (p.Asp279Asn) single nucleotide variant Pathogenic rs28940280 GRCh38 Chromosome 13, 77000580: 77000580
7 CLN5 NM_006493.2(CLN5): c.335G> A (p.Arg112His) single nucleotide variant Uncertain significance rs104894386 GRCh37 Chromosome 13, 77569212: 77569212
8 CLN5 NM_006493.2(CLN5): c.335G> A (p.Arg112His) single nucleotide variant Uncertain significance rs104894386 GRCh38 Chromosome 13, 76995077: 76995077
9 CLN5 NM_006493.2(CLN5): c.1054G> T (p.Glu352Ter) single nucleotide variant Likely pathogenic rs121908292 GRCh37 Chromosome 13, 77574934: 77574934
10 CLN5 NM_006493.2(CLN5): c.1054G> T (p.Glu352Ter) single nucleotide variant Likely pathogenic rs121908292 GRCh38 Chromosome 13, 77000799: 77000799
11 CLN5 NM_006493.2(CLN5): c.377G> A (p.Cys126Tyr) single nucleotide variant Pathogenic rs267606738 GRCh37 Chromosome 13, 77569254: 77569254
12 CLN5 NM_006493.2(CLN5): c.377G> A (p.Cys126Tyr) single nucleotide variant Pathogenic rs267606738 GRCh38 Chromosome 13, 76995119: 76995119
13 CLN5 NM_006493.2(CLN5): c.1121A> G (p.Tyr374Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs148862100 GRCh37 Chromosome 13, 77575001: 77575001
14 CLN5 NM_006493.2(CLN5): c.1121A> G (p.Tyr374Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs148862100 GRCh38 Chromosome 13, 77000866: 77000866
15 CLN5 NM_006493.2(CLN5): c.713-42_*46del600 deletion Pathogenic rs1555274312 GRCh38 Chromosome 13, 77000416: 77001015
16 CLN5 NM_006493.2(CLN5): c.713-42_*46del600 deletion Pathogenic rs1555274312 GRCh37 Chromosome 13, 77574551: 77575150
17 CLN5 NM_006493.2(CLN5): c.575A> G (p.Asn192Ser) single nucleotide variant Likely pathogenic rs386833975 GRCh38 Chromosome 13, 76995990: 76995990
18 CLN5 NM_006493.2(CLN5): c.1026C> A (p.Tyr342Ter) single nucleotide variant Likely pathogenic rs386833963 GRCh37 Chromosome 13, 77574906: 77574906
19 CLN5 NM_006493.2(CLN5): c.1026C> A (p.Tyr342Ter) single nucleotide variant Likely pathogenic rs386833963 GRCh38 Chromosome 13, 77000771: 77000771
20 CLN5 NM_006493.2(CLN5): c.1071_1072delCT (p.Leu358Alafs) deletion Pathogenic rs386833964 GRCh37 Chromosome 13, 77574951: 77574952
21 CLN5 NM_006493.2(CLN5): c.1071_1072delCT (p.Leu358Alafs) deletion Pathogenic rs386833964 GRCh38 Chromosome 13, 77000816: 77000817
22 CLN5 NM_006493.2(CLN5): c.1072_1073delTT (p.Leu358Alafs) deletion Likely pathogenic rs386833965 GRCh37 Chromosome 13, 77574952: 77574953
23 CLN5 NM_006493.2(CLN5): c.1072_1073delTT (p.Leu358Alafs) deletion Likely pathogenic rs386833965 GRCh38 Chromosome 13, 77000817: 77000818
24 CLN5 NM_006493.2(CLN5): c.1083delT (p.Phe361Leufs) deletion Likely pathogenic rs386833966 GRCh37 Chromosome 13, 77574963: 77574963
25 CLN5 NM_006493.2(CLN5): c.1083delT (p.Phe361Leufs) deletion Likely pathogenic rs386833966 GRCh38 Chromosome 13, 77000828: 77000828
26 CLN5 NM_006493.2(CLN5): c.593T> C (p.Leu198Pro) single nucleotide variant Likely pathogenic rs386833976 GRCh37 Chromosome 13, 77570143: 77570143
27 CLN5 NM_006493.2(CLN5): c.1103_1106delAACA (p.Lys368Serfs) deletion Pathogenic rs386833967 GRCh37 Chromosome 13, 77574983: 77574986
28 CLN5 NM_006493.2(CLN5): c.1103_1106delAACA (p.Lys368Serfs) deletion Pathogenic rs386833967 GRCh38 Chromosome 13, 77000848: 77000851
29 CLN5 NM_006493.2(CLN5): c.1137G> T (p.Trp379Cys) single nucleotide variant Likely pathogenic rs386833968 GRCh37 Chromosome 13, 77575017: 77575017
30 CLN5 NM_006493.2(CLN5): c.1137G> T (p.Trp379Cys) single nucleotide variant Likely pathogenic rs386833968 GRCh38 Chromosome 13, 77000882: 77000882
31 CLN5 NM_006493.2(CLN5): c.291dupC (p.Ser98Leufs) duplication Likely pathogenic rs386833970 GRCh37 Chromosome 13, 77566377: 77566377
32 CLN5 NM_006493.2(CLN5): c.291dupC (p.Ser98Leufs) duplication Likely pathogenic rs386833970 GRCh38 Chromosome 13, 76992242: 76992242
33 CLN5 NM_006493.2(CLN5): c.335G> C (p.Arg112Pro) single nucleotide variant Likely pathogenic rs104894386 GRCh37 Chromosome 13, 77569212: 77569212
34 CLN5 NM_006493.2(CLN5): c.335G> C (p.Arg112Pro) single nucleotide variant Likely pathogenic rs104894386 GRCh38 Chromosome 13, 76995077: 76995077
35 CLN5 NM_006493.2(CLN5): c.433C> T (p.Arg145Ter) single nucleotide variant Likely pathogenic rs386833971 GRCh37 Chromosome 13, 77569310: 77569310
36 CLN5 NM_006493.2(CLN5): c.433C> T (p.Arg145Ter) single nucleotide variant Likely pathogenic rs386833971 GRCh38 Chromosome 13, 76995175: 76995175
37 CLN5 NM_006493.2(CLN5): c.486+5G> C single nucleotide variant Likely pathogenic rs202146713 GRCh37 Chromosome 13, 77569368: 77569368
38 CLN5 NM_006493.2(CLN5): c.486+5G> C single nucleotide variant Likely pathogenic rs202146713 GRCh38 Chromosome 13, 76995233: 76995233
39 CLN5 NM_006493.2(CLN5): c.524T> G (p.Leu175Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833972 GRCh37 Chromosome 13, 77570074: 77570074
40 CLN5 NM_006493.2(CLN5): c.524T> G (p.Leu175Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833972 GRCh38 Chromosome 13, 76995939: 76995939
41 CLN5 NM_006493.2(CLN5): c.527_528insA (p.Gly177Trpfs) insertion Likely pathogenic rs386833973 GRCh37 Chromosome 13, 77570077: 77570078
42 CLN5 NM_006493.2(CLN5): c.527_528insA (p.Gly177Trpfs) insertion Likely pathogenic rs386833973 GRCh38 Chromosome 13, 76995942: 76995943
43 CLN5 NM_006493.2(CLN5): c.565C> T (p.Gln189Ter) single nucleotide variant Likely pathogenic rs386833974 GRCh37 Chromosome 13, 77570115: 77570115
44 CLN5 NM_006493.2(CLN5): c.565C> T (p.Gln189Ter) single nucleotide variant Likely pathogenic rs386833974 GRCh38 Chromosome 13, 76995980: 76995980
45 CLN5 NM_006493.2(CLN5): c.575A> G (p.Asn192Ser) single nucleotide variant Likely pathogenic rs386833975 GRCh37 Chromosome 13, 77570125: 77570125
46 CLN5 NM_006493.2(CLN5): c.593T> C (p.Leu198Pro) single nucleotide variant Likely pathogenic rs386833976 GRCh38 Chromosome 13, 76996008: 76996008
47 CLN5 NM_006493.2(CLN5): c.613C> T (p.Pro205Ser) single nucleotide variant Likely pathogenic rs386833977 GRCh37 Chromosome 13, 77570163: 77570163
48 CLN5 NM_006493.2(CLN5): c.613C> T (p.Pro205Ser) single nucleotide variant Likely pathogenic rs386833977 GRCh38 Chromosome 13, 76996028: 76996028
49 CLN5 NM_006493.2(CLN5): c.620G> C (p.Trp207Ser) single nucleotide variant Likely pathogenic rs386833978 GRCh37 Chromosome 13, 77570170: 77570170
50 CLN5 NM_006493.2(CLN5): c.620G> C (p.Trp207Ser) single nucleotide variant Likely pathogenic rs386833978 GRCh38 Chromosome 13, 76996035: 76996035

Expression for Ceroid Lipofuscinosis, Neuronal, 5

Search GEO for disease gene expression data for Ceroid Lipofuscinosis, Neuronal, 5.

Pathways for Ceroid Lipofuscinosis, Neuronal, 5

GO Terms for Ceroid Lipofuscinosis, Neuronal, 5

Sources for Ceroid Lipofuscinosis, Neuronal, 5

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