Ceroid Lipofuscinosis, Neuronal, 5 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CRD184 MIFTS: 32	Ceroid Lipofuscinosis, Neuronal, 5 Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of sphingolipid metabolism and other lipid storage disorders

Neuronal ceroid lipofuscinosis

Orphanet: ⁵⁹

Rare neurological diseases

Inborn errors of metabolism

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

UMLS ⁷³ C1850442 C0022340 C1866282

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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.

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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:

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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

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Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 5

Search Clinical Trials , NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 5

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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

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Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 5

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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 )	Kopra O....Peltonen L.	2004
2	Lymphocyte inclusions in Finnish-variant late infantile neuronal ceroid lipofuscinosis (CLN5). ( 10774993 )	Rapola J....Lake B.D.	2000
3	CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. ( 9662406 )	Savukoski M....Peltonen L.	1998

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Genes for Ceroid Lipofuscinosis, Neuronal, 5

Genes related to Ceroid Lipofuscinosis, Neuronal, 5 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CLN5	CLN5, Intracellular Trafficking Protein	Protein Coding	1726.38	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Gene name Transcripts Variants (show sections)	15728307 20301601 20157158 (more) 9662406 25359263 23160995 15349861 18684116
2	FBXL3	F-Box And Leucine Rich Repeat Protein 3	Protein Coding	9.78	GeneCards inferred via : Variants (show sections)

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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

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Expression for Ceroid Lipofuscinosis, Neuronal, 5

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

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Pathways for Ceroid Lipofuscinosis, Neuronal, 5

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GO Terms for Ceroid Lipofuscinosis, Neuronal, 5

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Sources for Ceroid Lipofuscinosis, Neuronal, 5

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⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia