MCID: CRD184
MIFTS: 36

Ceroid Lipofuscinosis, Neuronal, 5

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

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 5

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 5:

Name: Ceroid Lipofuscinosis, Neuronal, 5 54 71 13 69
Neuronal Ceroid Lipofuscinosis 5 12 50 24 25
Cln5 Disease 24 25 56
Cln5 12 50 71
Finnish Variant Late Infantile Neuronal Ceroid Lipofuscinosis 25 71
Vlincl 25 71
Neuronal Ceroid Lipofuscinosis 5 with Variable Age at Onset 71
Neuronal Ceroid Lipofuscinosis 5 Variable Age of Onset 12
Neuronal Ceroid Lipofuscinosis Finnish Variant 50
Neuronal Ceroid Lipofuscinosis, Late-Infantile 25
Late-Infantile Neuronal Ceroid Lipofuscinosis 25
Late-Infantile Neuronal Ceroid Lipfuscinosis 69
Cln5-Related Neuronal Ceroid-Lipofuscinosis 24
Ceroid Lipofuscinosis, Neuronal, 6 69
Ceroid Lipofuscinosis Neuronal 5 29
Finnish Variant Late Infantile 24
Cln5 Disease, Late Infantile 50
Jansky-Bielschowsky Disease 25
Cln5 Disease, Juvenile 50
Cln5 Disease, Adult 50
Finnish Vlincl 25
Finnish 71

Characteristics:

Orphanet epidemiological data:

56
cln5 disease
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

54
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:

32
ceroid lipofuscinosis, neuronal, 5:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ceroid Lipofuscinosis, Neuronal, 5

Genetics Home Reference : 25 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 progressive visual loss, nystagmus and myoclonus. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 5 is CLN5 (Ceroid-Lipofuscinosis, Neuronal 5). The drugs Acetylcysteine and Cysteamine have been mentioned in the context of this disorder.

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 : 50 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 : 54
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, 1 Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 8 Ceroid Lipofuscinosis, Neuronal, 10
Ceroid Lipofuscinosis, Neuronal, 2 Ceroid Lipofuscinosis, Neuronal, 5
Ceroid Lipofuscinosis, Neuronal, 6 Ceroid Lipofuscinosis, Neuronal, 3
Ceroid Lipofuscinosis, Neuronal, 11 Ceroid Lipofuscinosis, Neuronal, 9
Neuronal Ceroid Lipofuscinosis 4a Adult Neuronal Ceroid Lipofuscinosis

Diseases related to Ceroid Lipofuscinosis, Neuronal, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
id Related Disease Score Top Affiliating Genes
1 amyloidosis, finnish type 12.2
2 congenital nephrotic syndrome finnish type 12.2
3 familial amyloidosis, finnish type 12.1
4 megaloblastic anemia-1, finnish type 11.8
5 epilepsy mental deterioration finnish type 11.7
6 salla disease 11.7
7 ceroid lipofuscinosis, neuronal, 1 11.4
8 neuronal ceroid-lipofuscinoses 11.4
9 neuronal ceroid lipofuscinosis 11.4
10 ceroid lipofuscinosis, neuronal, 2 11.0
11 ceroid lipofuscinosis, neuronal, 3 10.9
12 ceroid lipofuscinosis, neuronal, 9 10.8
13 visual epilepsy 10.8
14 peripheral retinal degeneration 10.8
15 ceroid lipofuscinosis, neuronal, 7 10.8
16 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 10.8
17 ceroid lipofuscinosis, neuronal, 10 10.8
18 ceroid lipofuscinosis, neuronal, 11 10.8
19 ceroid lipofuscinosis, neuronal, 6 10.8
20 lipid storage disease 10.7
21 neuronitis 10.5
22 lysosomal storage disease 9.8
23 ataxia 9.8

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:

54

Neurologic- Central Nervous System:
mental retardation
myoclonus
ataxia
seizures
autofluorescent lipopigment in neurons
more
Neurologic- Behavioral Psychiatric Manifestations:
concentration difficulties

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

Laboratory- Abnormalities:
'fingerprint' profiles ultrastructurally
'curvilinear' profiles ultrastructurally
'rectilinear' profiles ultrastructurally


Clinical features from OMIM:

256731

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 5:

32 (show all 18)
id Description HPO Frequency HPO Source Accession
1 progressive visual loss 32 HP:0000529
2 nystagmus 32 occasional (7.5%) HP:0000639
3 myoclonus 32 HP:0001336
4 dysarthria 32 occasional (7.5%) HP:0001260
5 seizures 32 HP:0001250
6 retinal degeneration 32 HP:0000546
7 intellectual disability 32 HP:0001249
8 cerebellar atrophy 32 occasional (7.5%) HP:0001272
9 dysmetria 32 occasional (7.5%) HP:0001310
10 developmental regression 32 HP:0002376
11 dysdiadochokinesis 32 occasional (7.5%) HP:0002075
12 clumsiness 32 HP:0002312
13 motor deterioration 32 HP:0002333
14 increased neuronal autofluorescent lipopigment 32 HP:0002074
15 curvilinear intracellular accumulation of autofluorescent lipopigment storage material 32 HP:0003205
16 fingerprint intracellular accumulation of autofluorescent lipopigment storage material 32 HP:0003208
17 rectilinear intracellular accumulation of autofluorescent lipopigment storage material 32 HP:0003226
18 abnormal nervous system electrophysiology 32 HP:0001311

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 5:


ataxia, myoclonus, seizures, clumsiness

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 5

Drugs for Ceroid Lipofuscinosis, Neuronal, 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
2
Cysteamine Approved, Investigational Phase 4 60-23-1 6058
3 Antidotes Phase 4
4 Anti-Infective Agents Phase 4
5 Antioxidants Phase 4
6 Antiviral Agents Phase 4
7 Expectorants Phase 4
8 N-monoacetylcystine Phase 4
9 Protective Agents Phase 4
10 Respiratory System Agents Phase 4

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00028262 Phase 4 Cystagon
2 Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT00151216 Phase 1
3 Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Recruiting NCT01035424
4 Collection of Cerebrospinal Fluid in Healthy Children Terminated NCT01698229

Search NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 5

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 5

Genetic tests related to Ceroid Lipofuscinosis, Neuronal, 5:

id Genetic test Affiliating Genes
1 Ceroid Lipofuscinosis Neuronal 5 29
2 Cln5 Disease 24 CLN5

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 5

Publications for Ceroid Lipofuscinosis, Neuronal, 5

Variations for Ceroid Lipofuscinosis, Neuronal, 5

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

71 (show all 14)
id 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)
id 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.225G> A (p.Trp75Ter) single nucleotide variant Pathogenic rs104894385 GRCh37 Chromosome 13, 77566311: 77566311
3 CLN5 NM_006493.2(CLN5): c.835G> A (p.Asp279Asn) single nucleotide variant Pathogenic rs28940280 GRCh37 Chromosome 13, 77574715: 77574715
4 CLN5 NM_006493.2(CLN5): c.335G> A (p.Arg112His) single nucleotide variant Pathogenic rs104894386 GRCh37 Chromosome 13, 77569212: 77569212
5 CLN5 NM_006493.2(CLN5): c.1054G> T (p.Glu352Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908292 GRCh37 Chromosome 13, 77574934: 77574934
6 CLN5 NM_006493.2(CLN5): c.377G> A (p.Cys126Tyr) single nucleotide variant Pathogenic rs267606738 GRCh37 Chromosome 13, 77569254: 77569254
7 CLN5 NM_006493.2(CLN5): c.1121A> G (p.Tyr374Cys) single nucleotide variant Pathogenic/Likely pathogenic rs148862100 GRCh37 Chromosome 13, 77575001: 77575001
8 CLN5 NM_006493.2(CLN5): c.713-42_*46del600 deletion Pathogenic GRCh38 Chromosome 13, 77000416: 77001015
9 CLN5 NM_006493.2(CLN5): c.1137G> T (p.Trp379Cys) single nucleotide variant Likely pathogenic rs386833968 GRCh38 Chromosome 13, 77000882: 77000882
10 CLN5 NM_006493.2(CLN5): c.291dupC (p.Ser98Leufs) duplication Likely pathogenic rs386833970 GRCh37 Chromosome 13, 77566377: 77566377
11 CLN5 NM_006493.2(CLN5): c.1026C> A (p.Tyr342Ter) single nucleotide variant Likely pathogenic rs386833963 GRCh37 Chromosome 13, 77574906: 77574906
12 CLN5 NM_006493.2(CLN5): c.1071_1072delCT (p.Leu358Alafs) deletion Pathogenic/Likely pathogenic rs386833964 GRCh37 Chromosome 13, 77574951: 77574952
13 CLN5 NM_006493.2(CLN5): c.1072_1073delTT (p.Leu358Alafs) deletion Likely pathogenic rs386833965 GRCh37 Chromosome 13, 77574952: 77574953
14 CLN5 NM_006493.2(CLN5): c.1083delT (p.Phe361Leufs) deletion Likely pathogenic rs386833966 GRCh37 Chromosome 13, 77574963: 77574963
15 CLN5 NM_006493.2(CLN5): c.1103_1106delAACA (p.Lys368Serfs) deletion Likely pathogenic rs386833967 GRCh37 Chromosome 13, 77574983: 77574986
16 CLN5 NM_006493.2(CLN5): c.335G> C (p.Arg112Pro) single nucleotide variant Likely pathogenic rs104894386 GRCh37 Chromosome 13, 77569212: 77569212
17 CLN5 NM_006493.2(CLN5): c.433C> T (p.Arg145Ter) single nucleotide variant Likely pathogenic rs386833971 GRCh37 Chromosome 13, 77569310: 77569310
18 CLN5 NM_006493.2(CLN5): c.486+5G> C single nucleotide variant Likely pathogenic rs202146713 GRCh37 Chromosome 13, 77569368: 77569368
19 CLN5 NM_006493.2(CLN5): c.524T> G (p.Leu175Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833972 GRCh37 Chromosome 13, 77570074: 77570074
20 CLN5 NM_006493.2(CLN5): c.527_528insA (p.Gly177Trpfs) insertion Likely pathogenic rs386833973 GRCh37 Chromosome 13, 77570077: 77570078
21 CLN5 NM_006493.2(CLN5): c.565C> T (p.Gln189Ter) single nucleotide variant Likely pathogenic rs386833974 GRCh37 Chromosome 13, 77570115: 77570115
22 CLN5 NM_006493.2(CLN5): c.575A> G (p.Asn192Ser) single nucleotide variant Likely pathogenic rs386833975 GRCh37 Chromosome 13, 77570125: 77570125
23 CLN5 NM_006493.2(CLN5): c.593T> C (p.Leu198Pro) single nucleotide variant Likely pathogenic rs386833976 GRCh37 Chromosome 13, 77570143: 77570143
24 CLN5 NM_006493.2(CLN5): c.613C> T (p.Pro205Ser) single nucleotide variant Likely pathogenic rs386833977 GRCh37 Chromosome 13, 77570163: 77570163
25 CLN5 NM_006493.2(CLN5): c.620G> C (p.Trp207Ser) single nucleotide variant Likely pathogenic rs386833978 GRCh37 Chromosome 13, 77570170: 77570170
26 CLN5 NM_006493.2(CLN5): c.669dupC (p.Trp224Leufs) duplication Likely pathogenic rs386833979 GRCh37 Chromosome 13, 77570219: 77570219
27 CLN5 NM_006493.2(CLN5): c.671G> A (p.Trp224Ter) single nucleotide variant Likely pathogenic rs386833980 GRCh37 Chromosome 13, 77570221: 77570221
28 CLN5 NM_006493.2(CLN5): c.772T> G (p.Tyr258Asp) single nucleotide variant Likely pathogenic rs386833981 GRCh37 Chromosome 13, 77574652: 77574652
29 CLN5 NM_006493.2(CLN5): c.919delA (p.Arg307Glufs) deletion Likely pathogenic rs386833982 GRCh37 Chromosome 13, 77574799: 77574799
30 CLN5 NM_006493.2(CLN5): c.955_970del16 (p.Gly319Phefs) deletion Pathogenic/Likely pathogenic rs386833983 GRCh37 Chromosome 13, 77574835: 77574850
31 CLN5 NM_006493.2(CLN5): c.672delG (p.Trp224Terfs) deletion Pathogenic/Likely pathogenic rs587780315 GRCh37 Chromosome 13, 77570222: 77570222
32 CLN5 NM_006493.2(CLN5): c.935G> A (p.Ser312Asn) single nucleotide variant Pathogenic rs730882146 GRCh37 Chromosome 13, 77574815: 77574815
33 CLN5 NM_006493.2(CLN5): c.924_925delAT (p.Phe309Serfs) deletion Pathogenic/Likely pathogenic rs786204644 GRCh37 Chromosome 13, 77574804: 77574805
34 CLN5 NM_006493.2(CLN5): c.334C> T (p.Arg112Cys) single nucleotide variant Likely pathogenic rs786205211 GRCh38 Chromosome 13, 76995076: 76995076
35 CLN5 NM_006493.2(CLN5): c.518delG (p.Ser173Ilefs) deletion Pathogenic rs794729218 GRCh37 Chromosome 13, 77570068: 77570068
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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Pathways for Ceroid Lipofuscinosis, Neuronal, 5

GO Terms for Ceroid Lipofuscinosis, Neuronal, 5

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