MCID: CRD184
MIFTS: 36

Ceroid Lipofuscinosis, Neuronal, 5

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

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 5

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 5:

Name: Ceroid Lipofuscinosis, Neuronal, 5 53 71 13 69
Neuronal Ceroid Lipofuscinosis 5 12 49 24 14
Cln5 53 12 49 71
Finnish Variant Late Infantile Neuronal Ceroid Lipofuscinosis 24 71
Cln5 Disease 24 55
Vlincl 24 71
Neuronal Ceroid Lipofuscinosis 5 with Variable Age at Onset 71
Ceroid Lipofuscinosis, Neuronal, 5, Variable Age at Onset 53
Neuronal Ceroid Lipofuscinosis 5 Variable Age of Onset 12
Neuronal Ceroid Lipofuscinosis Finnish Variant 49
Neuronal Ceroid Lipofuscinosis, Late-Infantile 24
Late-Infantile Neuronal Ceroid Lipofuscinosis 24
Late-Infantile Neuronal Ceroid Lipfuscinosis 69
Ceroid Lipofuscinosis, Neuronal, 6 69
Ceroid Lipofuscinosis Neuronal 5 28
Cln5 Disease, Late Infantile 49
Jansky-Bielschowsky Disease 24
Cln5 Disease, Juvenile 49
Cln5 Disease, Adult 49
Finnish Vlincl 24
Finnish 71

Characteristics:

Orphanet epidemiological data:

55
cln5 disease
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

53
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:

31
ceroid lipofuscinosis, neuronal, 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 256731
Disease Ontology 12 DOID:0110728
ICD10 32 E75.4
Orphanet 55 ORPHA228360
UMLS via Orphanet 70 C1850442
ICD10 via Orphanet 33 E75.4
MedGen 39 C1850442
MeSH 41 D009472

Summaries for Ceroid Lipofuscinosis, Neuronal, 5

Genetics Home Reference : 24 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 amyloidosis, finnish type and congenital nephrotic syndrome finnish type, and has symptoms including seizures, myoclonus and clumsiness. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 5 is CLN5 (CLN5, Intracellular Trafficking Protein).

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 : 49 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. Last updated: 9/2/2015

OMIM : 53 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 : 71 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 53)
# Related Disease Score Top Affiliating Genes
1 amyloidosis, finnish type 12.3
2 congenital nephrotic syndrome finnish type 12.3
3 familial amyloidosis, finnish type 12.2
4 ceroid lipofuscinosis, neuronal, 2 12.0
5 salla disease 11.9
6 epilepsy mental deterioration finnish type 11.9
7 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 11.7
8 nephrotic syndrome, type 1 11.5
9 diarrhea 1, secretory chloride, congenital 11.4
10 ceroid lipofuscinosis, neuronal, 6 11.3
11 aspartylglucosaminuria 11.3
12 nephrotic syndrome 11.3
13 gracile syndrome 11.2
14 cartilage-hair hypoplasia 11.2
15 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 11.1
16 rapadilino syndrome 11.1
17 lethal congenital contracture syndrome 1 11.1
18 tibial muscular dystrophy, tardive 11.1
19 tibial muscular dystrophy 11.1
20 sialuria 11.1
21 congenital chloride diarrhea 11.1
22 peho syndrome 11.0
23 lethal congenital contracture syndrome 11.0
24 megaloblastic anemia 1 10.9
25 free sialic acid storage disorders 10.9
26 lattice corneal dystrophy type ii 10.9
27 amyloidosis, hereditary, transthyretin-related 10.8
28 bone dysplasia, lethal, holmgren type 10.8
29 mitochondrial dna depletion syndrome 7 10.8
30 fundus dystrophy, pseudoinflammatory, recessive form 10.8
31 infantile sialic acid storage disease 10.8
32 myopathy, distal, 3 10.8
33 familial nephrotic syndrome 10.8
34 lattice corneal dystrophy 10.8
35 pseudoinflammatory fundus dystrophy 10.8
36 neuronal ceroid lipofuscinosis 10.4
37 neuronitis 10.4
38 ceroid lipofuscinosis, neuronal, 1 10.2
39 amyloidosis 10.2
40 aging 10.1
41 alzheimer disease 10.1
42 prostatitis 10.0
43 body mass index quantitative trait locus 11 9.9
44 body mass index quantitative trait locus 9 9.9
45 body mass index quantitative trait locus 8 9.9
46 body mass index quantitative trait locus 7 9.9
47 body mass index quantitative trait locus 12 9.9
48 body mass index quantitative trait locus 14 9.9
49 body mass index quantitative trait locus 18 9.9
50 breast cancer 9.9

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

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
ataxia
seizures
myoclonus
clumsiness
developmental regression
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

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 5:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 myoclonus 31 HP:0001336
3 clumsiness 31 HP:0002312
4 dysdiadochokinesis 31 occasional (7.5%) HP:0002075
5 nystagmus 31 occasional (7.5%) HP:0000639
6 intellectual disability 31 HP:0001249
7 dysarthria 31 occasional (7.5%) HP:0001260
8 developmental regression 31 HP:0002376
9 progressive visual loss 31 HP:0000529
10 motor deterioration 31 HP:0002333
11 dysmetria 31 occasional (7.5%) HP:0001310
12 cerebellar atrophy 31 occasional (7.5%) HP:0001272
13 retinal degeneration 31 HP:0000546
14 increased neuronal autofluorescent lipopigment 31 HP:0002074
15 curvilinear intracellular accumulation of autofluorescent lipopigment storage material 31 HP:0003205
16 fingerprint intracellular accumulation of autofluorescent lipopigment storage material 31 HP:0003208
17 rectilinear intracellular accumulation of autofluorescent lipopigment storage material 31 HP:0003226
18 abnormal nervous system electrophysiology 31 HP:0001311

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 5:


seizures, clumsiness, myoclonus, ataxia

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 5

Search Clinical Trials , 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 28 CLN5

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 5

Publications for Ceroid Lipofuscinosis, Neuronal, 5

Articles related to Ceroid Lipofuscinosis, Neuronal, 5:

(show all 43)
# Title Authors Year
1
Induced Pluripotent Stem Cells Derived from a CLN5 Patient Manifest Phenotypic Characteristics of Neuronal Ceroid Lipofuscinoses. ( 28468312 )
2017
2
Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies. ( 27203721 )
2016
3
An EEG Investigation of Sleep Homeostasis in Healthy and CLN5 Batten Disease Affected Sheep. ( 27488642 )
2016
4
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
5
Translational neurophysiology in sheep: measuring sleep and neurological dysfunction in CLN5 Batten disease affected sheep. ( 25724202 )
2015
6
Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5. ( 25934231 )
2015
7
Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. ( 26342652 )
2015
8
Neuronal ceroid lipofuscinosis genes, CLN2, CLN3 and CLN5 are spatially and temporally co-expressed in a developing mouse brain. ( 25303899 )
2014
9
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. ( 25359263 )
2014
10
The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5. ( 24058541 )
2013
11
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. ( 24038957 )
2013
12
The role of ceroid lipofuscinosis neuronal protein 5 (CLN5) in endosomal sorting. ( 22431521 )
2012
13
CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches. ( 23160995 )
2012
14
The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. ( 20052765 )
2010
15
CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL. ( 20157158 )
2010
16
Progressive thalamocortical neuron loss in Cln5 deficient mice: Distinct effects in Finnish variant late infantile NCL. ( 19385065 )
2009
17
Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins. ( 19941651 )
2009
18
Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship. ( 19309691 )
2009
19
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
20
Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, Finnish Variant. ( 20960661 )
2008
21
Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant. ( 20960652 )
2008
22
Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. ( 17607606 )
2007
23
Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 gene. ( 16935476 )
2006
24
Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency. ( 16814585 )
2006
25
Radiation hybrid mapping of three candidate genes for bovine Neuronal Ceroid Lipofuscinosis: CLN3, CLN5 and CLN6. ( 16974076 )
2006
26
A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs. ( 16033706 )
2005
27
A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset. ( 15728307 )
2005
28
The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain. ( 15207259 )
2004
29
A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging. ( 15459177 )
2004
30
Enlarged SI and SII somatosensory evoked responses in the CLN5 form of neuronal ceroid lipofuscinosis. ( 12169332 )
2002
31
Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3. ( 12134079 )
2002
32
Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein. ( 11971870 )
2002
33
Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5). ( 10953198 )
2000
34
Lymphocyte inclusions in Finnish-variant late infantile neuronal ceroid lipofuscinosis (CLN5). ( 10774993 )
2000
35
Positional cloning of the CLN5 gene defective in the Finnish variant of the LINCL. ( 10191122 )
1999
36
Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5. ( 10477428 )
1999
37
Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL[Finnish]; CLN5). ( 10419622 )
1999
38
Transcript identification on the CLN5 region on chromosome 13q22. ( 10480355 )
1999
39
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. ( 9662406 )
1998
40
The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population. ( 8644710 )
1996
41
Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22. ( 8661106 )
1996
42
A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of Batten (Spielmeyer-Vogt-SjAPgren, CLN3) disease: exclusion of linkage to the CLN3 region of chromosome 16. ( 8020979 )
1994
43
Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses. ( 7942847 )
1994

Variations for Ceroid Lipofuscinosis, Neuronal, 5

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

71 (show all 14)
# 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.Trp26Arg VAR_066895 rs199727787
7 CLN5 p.Cys77Tyr VAR_066896 rs267606738
8 CLN5 p.Asn143Ser VAR_066897 rs386833975
9 CLN5 p.Leu149Pro VAR_066898 rs386833976
10 CLN5 p.Pro156Ser VAR_066899 rs386833977
11 CLN5 p.Trp158Arg VAR_066900 rs147065248
12 CLN5 p.Trp158Ser VAR_066901 rs386833978
13 CLN5 p.Asn193Lys VAR_066902 rs138611001
14 CLN5 p.Tyr325Cys VAR_066903 rs148862100

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

6 (show all 43)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLN5 NM_006493.2(CLN5): c.1072_1073delTT (p.Leu358Alafs) deletion Likely pathogenic rs386833965 GRCh38 Chromosome 13, 77000817: 77000818
2 CLN5 NM_006493.2(CLN5): c.1026C> A (p.Tyr342Ter) single nucleotide variant Likely pathogenic rs386833963 GRCh37 Chromosome 13, 77574906: 77574906
3 CLN5 NM_006493.2(CLN5): c.1071_1072delCT (p.Leu358Alafs) deletion Pathogenic/Likely pathogenic rs386833964 GRCh37 Chromosome 13, 77574951: 77574952
4 CLN5 NM_006493.2(CLN5): c.1083delT (p.Phe361Leufs) deletion Likely pathogenic rs386833966 GRCh37 Chromosome 13, 77574963: 77574963
5 CLN5 NM_006493.2(CLN5): c.1103_1106delAACA (p.Lys368Serfs) deletion Likely pathogenic rs386833967 GRCh37 Chromosome 13, 77574983: 77574986
6 CLN5 NM_006493.2(CLN5): c.1137G> T (p.Trp379Cys) single nucleotide variant Likely pathogenic rs386833968 GRCh37 Chromosome 13, 77575017: 77575017
7 CLN5 NM_006493.2(CLN5): c.291dupC (p.Ser98Leufs) duplication Likely pathogenic rs386833970 GRCh37 Chromosome 13, 77566377: 77566377
8 CLN5 NM_006493.2(CLN5): c.335G> C (p.Arg112Pro) single nucleotide variant Likely pathogenic rs104894386 GRCh37 Chromosome 13, 77569212: 77569212
9 CLN5 NM_006493.2(CLN5): c.433C> T (p.Arg145Ter) single nucleotide variant Likely pathogenic rs386833971 GRCh37 Chromosome 13, 77569310: 77569310
10 CLN5 NM_006493.2(CLN5): c.486+5G> C single nucleotide variant Likely pathogenic rs202146713 GRCh37 Chromosome 13, 77569368: 77569368
11 CLN5 NM_006493.2(CLN5): c.524T> G (p.Leu175Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833972 GRCh37 Chromosome 13, 77570074: 77570074
12 CLN5 NM_006493.2(CLN5): c.527_528insA (p.Gly177Trpfs) insertion Likely pathogenic rs386833973 GRCh37 Chromosome 13, 77570077: 77570078
13 CLN5 NM_006493.2(CLN5): c.565C> T (p.Gln189Ter) single nucleotide variant Likely pathogenic rs386833974 GRCh37 Chromosome 13, 77570115: 77570115
14 CLN5 NM_006493.2(CLN5): c.575A> G (p.Asn192Ser) single nucleotide variant Likely pathogenic rs386833975 GRCh37 Chromosome 13, 77570125: 77570125
15 CLN5 NM_006493.2(CLN5): c.593T> C (p.Leu198Pro) single nucleotide variant Likely pathogenic rs386833976 GRCh37 Chromosome 13, 77570143: 77570143
16 CLN5 NM_006493.2(CLN5): c.613C> T (p.Pro205Ser) single nucleotide variant Likely pathogenic rs386833977 GRCh37 Chromosome 13, 77570163: 77570163
17 CLN5 NM_006493.2(CLN5): c.620G> C (p.Trp207Ser) single nucleotide variant Likely pathogenic rs386833978 GRCh37 Chromosome 13, 77570170: 77570170
18 CLN5 NM_006493.2(CLN5): c.669dupC (p.Trp224Leufs) duplication Likely pathogenic rs386833979 GRCh37 Chromosome 13, 77570219: 77570219
19 CLN5 NM_006493.2(CLN5): c.671G> A (p.Trp224Ter) single nucleotide variant Likely pathogenic rs386833980 GRCh37 Chromosome 13, 77570221: 77570221
20 CLN5 NM_006493.2(CLN5): c.772T> G (p.Tyr258Asp) single nucleotide variant Likely pathogenic rs386833981 GRCh37 Chromosome 13, 77574652: 77574652
21 CLN5 NM_006493.2(CLN5): c.919delA (p.Arg307Glufs) deletion Likely pathogenic rs386833982 GRCh37 Chromosome 13, 77574799: 77574799
22 CLN5 NM_006493.2(CLN5): c.955_970del16 (p.Gly319Phefs) deletion Pathogenic/Likely pathogenic rs386833983 GRCh37 Chromosome 13, 77574835: 77574850
23 CLN5 NM_006493.2(CLN5): c.672delG (p.Trp224Terfs) deletion Pathogenic/Likely pathogenic rs587780315 GRCh38 Chromosome 13, 76996087: 76996087
24 CLN5 NM_006493.2(CLN5): c.935G> A (p.Ser312Asn) single nucleotide variant Pathogenic rs730882146 GRCh37 Chromosome 13, 77574815: 77574815
25 CLN5 NM_006493.2(CLN5): c.924_925delAT (p.Phe309Serfs) deletion Pathogenic/Likely pathogenic rs786204644 GRCh37 Chromosome 13, 77574804: 77574805
26 CLN5 NM_006493.2(CLN5): c.334C> T (p.Arg112Cys) single nucleotide variant Likely pathogenic rs786205211 GRCh38 Chromosome 13, 76995076: 76995076
27 CLN5 NM_006493.2(CLN5): c.518delG (p.Ser173Ilefs) deletion Pathogenic rs794729218 GRCh38 Chromosome 13, 76995933: 76995933
28 CLN5 NM_006493.2(CLN5): c.1175_1176delAT (p.Tyr392Terfs) deletion Pathogenic rs386833969 GRCh37 Chromosome 13, 77575055: 77575056
29 CLN5 NM_006493.2(CLN5): c.225G> A (p.Trp75Ter) single nucleotide variant Pathogenic rs104894385 GRCh37 Chromosome 13, 77566311: 77566311
30 CLN5 NM_006493.2(CLN5): c.835G> A (p.Asp279Asn) single nucleotide variant Pathogenic rs28940280 GRCh37 Chromosome 13, 77574715: 77574715
31 CLN5 NM_006493.2(CLN5): c.335G> A (p.Arg112His) single nucleotide variant Pathogenic rs104894386 GRCh37 Chromosome 13, 77569212: 77569212
32 CLN5 NM_006493.2(CLN5): c.1054G> T (p.Glu352Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908292 GRCh37 Chromosome 13, 77574934: 77574934
33 CLN5 NM_006493.2(CLN5): c.377G> A (p.Cys126Tyr) single nucleotide variant Pathogenic rs267606738 GRCh37 Chromosome 13, 77569254: 77569254
34 CLN5 NM_006493.2(CLN5): c.1121A> G (p.Tyr374Cys) single nucleotide variant Pathogenic/Likely pathogenic rs148862100 GRCh37 Chromosome 13, 77575001: 77575001
35 CLN5 NM_006493.2(CLN5): c.713-42_*46del600 deletion Pathogenic GRCh38 Chromosome 13, 77000416: 77001015
36 CLN5 NM_006493.2(CLN5): c.694C> T (p.Gln232Ter) single nucleotide variant Pathogenic rs869312751 GRCh37 Chromosome 13, 77570244: 77570244
37 CLN5 NM_006493.2(CLN5): c.220_221delTCinsG (p.Ser74Alafs) indel Likely pathogenic rs1057516814 GRCh37 Chromosome 13, 77566306: 77566307
38 CLN5 NM_006493.2(CLN5): c.280_281delTC (p.Ser94Glyfs) deletion Likely pathogenic rs1057516220 GRCh37 Chromosome 13, 77566366: 77566367
39 CLN5 NM_006493.2(CLN5): c.302_314delACTGGCCGGTGCC (p.His101Profs) deletion Likely pathogenic rs1057517134 GRCh37 Chromosome 13, 77566388: 77566400
40 CLN5 NM_006493.2(CLN5): c.487-1delG deletion Likely pathogenic rs1057516390 GRCh37 Chromosome 13, 77570036: 77570036
41 CLN5 NM_006493.2(CLN5): c.940G> T (p.Glu314Ter) single nucleotide variant Likely pathogenic rs764495616 GRCh37 Chromosome 13, 77574820: 77574820
42 CLN5 NM_006493.2(CLN5): c.1105C> T (p.Gln369Ter) single nucleotide variant Likely pathogenic rs750935331 GRCh37 Chromosome 13, 77574985: 77574985
43 CLN5 NM_006493.2(CLN5): c.657_661dup (p.Asp221Valfs) duplication Pathogenic GRCh37 Chromosome 13, 77570207: 77570211

Expression for Ceroid Lipofuscinosis, Neuronal, 5

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