MCID: CRD184
MIFTS: 32

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 57 75 13 73
Neuronal Ceroid Lipofuscinosis 5 12 53 25 15
Cln5 57 12 53 75
Finnish Variant Late Infantile Neuronal Ceroid Lipofuscinosis 25 75
Ceroid Lipofuscinosis Neuronal 5 29 6
Cln5 Disease 25 59
Vlincl 25 75
Neuronal Ceroid Lipofuscinosis 5 with Variable Age at Onset 75
Ceroid Lipofuscinosis, Neuronal, 5, Variable Age at Onset 57
Neuronal Ceroid Lipofuscinosis 5 Variable Age of Onset 12
Neuronal Ceroid Lipofuscinosis Finnish Variant 53
Neuronal Ceroid Lipofuscinosis, Late-Infantile 25
Late-Infantile Neuronal Ceroid Lipofuscinosis 25
Late-Infantile Neuronal Ceroid Lipfuscinosis 73
Lipofuscinosis, Ceroid, Neuronal, Type 5 40
Ceroid Lipofuscinosis, Neuronal, 6 73
Cln5 Disease, Late Infantile 53
Jansky-Bielschowsky Disease 25
Cln5 Disease, Juvenile 53
Cln5 Disease, Adult 53
Finnish Vlincl 25
Finnish 75

Characteristics:

Orphanet epidemiological data:

59
cln5 disease
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
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:



External Ids:

OMIM 57 256731
Disease Ontology 12 DOID:0110728
ICD10 33 E75.4
Orphanet 59 ORPHA228360
ICD10 via Orphanet 34 E75.4
UMLS via Orphanet 74 C1850442
MedGen 42 C1850442
MeSH 44 D009472

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 neuronal ceroid lipofuscinosis and amyloidosis, finnish type, and has symptoms including ataxia, myoclonus and seizures. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 5 is CLN5 (CLN5, Intracellular Trafficking Protein). Related phenotypes are progressive visual loss and retinal degeneration

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 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 : 75 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.

NIH Rare Diseases : 53 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.

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.

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 all 24)
# Related Disease Score Top Affiliating Genes
1 neuronal ceroid lipofuscinosis 30.9 CLN5 FBXL3
2 amyloidosis, finnish type 12.4
3 congenital nephrotic syndrome finnish type 12.3
4 familial amyloidosis, finnish type 12.2
5 salla disease 11.9
6 epilepsy mental deterioration finnish type 11.9
7 ceroid lipofuscinosis, neuronal, 1 11.8
8 gracile syndrome 11.7
9 neuronal ceroid-lipofuscinoses 11.5
10 ceroid lipofuscinosis, neuronal, 6 11.3
11 ceroid lipofuscinosis, neuronal, 3 11.3
12 ceroid lipofuscinosis, neuronal, 2 11.1
13 ceroid storage disease 10.9
14 ceroid lipofuscinosis, neuronal, 9 10.9
15 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 10.9
16 ceroid lipofuscinosis, neuronal, 10 10.9
17 ceroid lipofuscinosis, neuronal, 7 10.9
18 ceroid lipofuscinosis, neuronal, 11 10.9
19 ceroid lipofuscinosis, neuronal, 13 10.9
20 visual epilepsy 10.9
21 lipid storage disease 10.8
22 neuronitis 10.6
23 aging 10.0
24 lysosomal storage disease 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:

57
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

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 5:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 progressive visual loss 32 HP:0000529
2 retinal degeneration 32 HP:0000546
3 nystagmus 32 occasional (7.5%) HP:0000639
4 intellectual disability 32 HP:0001249
5 seizures 32 HP:0001250
6 ataxia 32 HP:0001251
7 dysarthria 32 occasional (7.5%) HP:0001260
8 cerebellar atrophy 32 occasional (7.5%) HP:0001272
9 dysmetria 32 occasional (7.5%) HP:0001310
10 abnormal nervous system electrophysiology 32 HP:0001311
11 myoclonus 32 HP:0001336
12 increased neuronal autofluorescent lipopigment 32 HP:0002074
13 dysdiadochokinesis 32 occasional (7.5%) HP:0002075
14 clumsiness 32 HP:0002312
15 motor deterioration 32 HP:0002333
16 developmental regression 32 HP:0002376
17 curvilinear intracellular accumulation of autofluorescent lipopigment storage material 32 HP:0003205
18 fingerprint intracellular accumulation of autofluorescent lipopigment storage material 32 HP:0003208
19 rectilinear intracellular accumulation of autofluorescent lipopigment storage material 32 HP:0003226

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 5:


ataxia, myoclonus, seizures, clumsiness

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 29 CLN5

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 5

Publications for Ceroid Lipofuscinosis, Neuronal, 5

Articles related to Ceroid Lipofuscinosis, Neuronal, 5:

# Title Authors Year
1
A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging. ( 15459177 )
2004
2
Lymphocyte inclusions in Finnish-variant late infantile neuronal ceroid lipofuscinosis (CLN5). ( 10774993 )
2000
3
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. ( 9662406 )
1998

Variations for Ceroid Lipofuscinosis, Neuronal, 5

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

75 (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 90)
# 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 Pathogenic rs104894386 GRCh37 Chromosome 13, 77569212: 77569212
8 CLN5 NM_006493.2(CLN5): c.335G> A (p.Arg112His) single nucleotide variant Pathogenic 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 Likely pathogenic rs148862100 GRCh37 Chromosome 13, 77575001: 77575001
14 CLN5 NM_006493.2(CLN5): c.1121A> G (p.Tyr374Cys) single nucleotide variant Likely pathogenic rs148862100 GRCh38 Chromosome 13, 77000866: 77000866
15 CLN5 NM_006493.2(CLN5): c.713-42_*46del600 deletion Pathogenic GRCh38 Chromosome 13, 77000416: 77001015
16 CLN5 NM_006493.2(CLN5): c.713-42_*46del600 deletion Pathogenic GRCh37 Chromosome 13, 77574551: 77575150
17 CLN5 NM_006493.2(CLN5): c.1083delT (p.Phe361Leufs) deletion Likely pathogenic rs386833966 GRCh38 Chromosome 13, 77000828: 77000828
18 CLN5 NM_006493.2(CLN5): c.575A> G (p.Asn192Ser) single nucleotide variant Likely pathogenic rs386833975 GRCh38 Chromosome 13, 76995990: 76995990
19 CLN5 NM_006493.2(CLN5): c.1026C> A (p.Tyr342Ter) single nucleotide variant Likely pathogenic rs386833963 GRCh37 Chromosome 13, 77574906: 77574906
20 CLN5 NM_006493.2(CLN5): c.1026C> A (p.Tyr342Ter) single nucleotide variant Likely pathogenic rs386833963 GRCh38 Chromosome 13, 77000771: 77000771
21 CLN5 NM_006493.2(CLN5): c.1071_1072delCT (p.Leu358Alafs) deletion Pathogenic rs386833964 GRCh37 Chromosome 13, 77574951: 77574952
22 CLN5 NM_006493.2(CLN5): c.1071_1072delCT (p.Leu358Alafs) deletion Pathogenic rs386833964 GRCh38 Chromosome 13, 77000816: 77000817
23 CLN5 NM_006493.2(CLN5): c.1072_1073delTT (p.Leu358Alafs) deletion Likely pathogenic rs386833965 GRCh37 Chromosome 13, 77574952: 77574953
24 CLN5 NM_006493.2(CLN5): c.1072_1073delTT (p.Leu358Alafs) deletion Likely pathogenic rs386833965 GRCh38 Chromosome 13, 77000817: 77000818
25 CLN5 NM_006493.2(CLN5): c.1083delT (p.Phe361Leufs) deletion Likely pathogenic rs386833966 GRCh37 Chromosome 13, 77574963: 77574963
26 CLN5 NM_006493.2(CLN5): c.1103_1106delAACA (p.Lys368Serfs) deletion Pathogenic rs386833967 GRCh37 Chromosome 13, 77574983: 77574986
27 CLN5 NM_006493.2(CLN5): c.1103_1106delAACA (p.Lys368Serfs) deletion Pathogenic rs386833967 GRCh38 Chromosome 13, 77000848: 77000851
28 CLN5 NM_006493.2(CLN5): c.1137G> T (p.Trp379Cys) single nucleotide variant Likely pathogenic rs386833968 GRCh37 Chromosome 13, 77575017: 77575017
29 CLN5 NM_006493.2(CLN5): c.1137G> T (p.Trp379Cys) single nucleotide variant Likely pathogenic rs386833968 GRCh38 Chromosome 13, 77000882: 77000882
30 CLN5 NM_006493.2(CLN5): c.291dupC (p.Ser98Leufs) duplication Likely pathogenic rs386833970 GRCh37 Chromosome 13, 77566377: 77566377
31 CLN5 NM_006493.2(CLN5): c.291dupC (p.Ser98Leufs) duplication Likely pathogenic rs386833970 GRCh38 Chromosome 13, 76992242: 76992242
32 CLN5 NM_006493.2(CLN5): c.335G> C (p.Arg112Pro) single nucleotide variant Likely pathogenic rs104894386 GRCh37 Chromosome 13, 77569212: 77569212
33 CLN5 NM_006493.2(CLN5): c.335G> C (p.Arg112Pro) single nucleotide variant Likely pathogenic rs104894386 GRCh38 Chromosome 13, 76995077: 76995077
34 CLN5 NM_006493.2(CLN5): c.433C> T (p.Arg145Ter) single nucleotide variant Likely pathogenic rs386833971 GRCh37 Chromosome 13, 77569310: 77569310
35 CLN5 NM_006493.2(CLN5): c.433C> T (p.Arg145Ter) single nucleotide variant Likely pathogenic rs386833971 GRCh38 Chromosome 13, 76995175: 76995175
36 CLN5 NM_006493.2(CLN5): c.486+5G> C single nucleotide variant Likely pathogenic rs202146713 GRCh37 Chromosome 13, 77569368: 77569368
37 CLN5 NM_006493.2(CLN5): c.486+5G> C single nucleotide variant Likely pathogenic rs202146713 GRCh38 Chromosome 13, 76995233: 76995233
38 CLN5 NM_006493.2(CLN5): c.524T> G (p.Leu175Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833972 GRCh37 Chromosome 13, 77570074: 77570074
39 CLN5 NM_006493.2(CLN5): c.524T> G (p.Leu175Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833972 GRCh38 Chromosome 13, 76995939: 76995939
40 CLN5 NM_006493.2(CLN5): c.527_528insA (p.Gly177Trpfs) insertion Likely pathogenic rs386833973 GRCh37 Chromosome 13, 77570077: 77570078
41 CLN5 NM_006493.2(CLN5): c.527_528insA (p.Gly177Trpfs) insertion Likely pathogenic rs386833973 GRCh38 Chromosome 13, 76995942: 76995943
42 CLN5 NM_006493.2(CLN5): c.565C> T (p.Gln189Ter) single nucleotide variant Likely pathogenic rs386833974 GRCh37 Chromosome 13, 77570115: 77570115
43 CLN5 NM_006493.2(CLN5): c.565C> T (p.Gln189Ter) single nucleotide variant Likely pathogenic rs386833974 GRCh38 Chromosome 13, 76995980: 76995980
44 CLN5 NM_006493.2(CLN5): c.575A> G (p.Asn192Ser) single nucleotide variant Likely pathogenic rs386833975 GRCh37 Chromosome 13, 77570125: 77570125
45 CLN5 NM_006493.2(CLN5): c.593T> C (p.Leu198Pro) single nucleotide variant Likely pathogenic rs386833976 GRCh37 Chromosome 13, 77570143: 77570143
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

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Pathways for Ceroid Lipofuscinosis, Neuronal, 5

GO Terms for Ceroid Lipofuscinosis, Neuronal, 5

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