CLN13
MCID: CRD239
MIFTS: 44

Ceroid Lipofuscinosis, Neuronal, 13 (CLN13)

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

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 13

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 13:

Name: Ceroid Lipofuscinosis, Neuronal, 13 57 72 29 6 70
Cln13 57 12 72
Neuronal Ceroid Lipofuscinosis 13 Kufs Type 12 72
Neuronal Ceroid Lipofuscinosis 13 12 15
Cln13 Disease 58 29
Ceroid Lipofuscinosis, Neuronal, 13, Kufs Type 57
Lipofuscinosis, Ceroid, Neuronal, Type 13 39

Characteristics:

Orphanet epidemiological data:

58
cln13 disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
adult onset
progressive disorder

Inheritance:
autosomal recessive


HPO:

31
ceroid lipofuscinosis, neuronal, 13:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive adult onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


Summaries for Ceroid Lipofuscinosis, Neuronal, 13

OMIM® : 57 Neuronal ceroid lipofuscinosis-13 is an autosomal recessive neurodegenerative disorder characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. Some patients develop seizures. Neurons show abnormal accumulation of autofluorescent material (summary by Smith et al., 2013). Adult-onset neuronal ceroid lipofuscinosis is sometimes referred to as Kufs disease. For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis (CLN), see CLN1 (256730). (615362) (Updated 20-May-2021)

MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 13, also known as cln13, is related to neuronal ceroid lipofuscinosis and epilepsy, idiopathic generalized 5, and has symptoms including seizures, ataxia and tremor. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 13 is CTSF (Cathepsin F), and among its related pathways/superpathways is Lysosome. Affiliated tissues include eye and brain, and related phenotypes are hyperreflexia and emotional lability

Disease Ontology : 12 A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has material basis in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13.

UniProtKB/Swiss-Prot : 72 Ceroid lipofuscinosis, neuronal, 13: A form of neuronal ceroid lipofuscinosis characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. Some patients develop seizures. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material.

Related Diseases for Ceroid Lipofuscinosis, Neuronal, 13

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 neuronal ceroid lipofuscinosis 27.8 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
2 epilepsy, idiopathic generalized 5 10.2 KCTD7 CLN8
3 progressive myoclonus epilepsy 1b 10.1 MFSD8 KCTD7
4 peripheral retinal degeneration 10.1 CLN5 CLN3
5 progressive myoclonus epilepsy 1a 10.1 PPT1 KCTD7
6 glycoproteinosis 10.1 CLN6 CLN3
7 mannosidosis, alpha b, lysosomal 10.1 MFSD8 CLN6
8 central core myopathy 10.0 PPT1 CLN8
9 aspartylglucosaminuria 10.0 CLN6 CLN5 CLN3
10 early myoclonic encephalopathy 10.0 KCTD7 CLN8 CLN6
11 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 9.9 CTSF CLN6 CLN5
12 gm2 gangliosidosis 9.9 CLN6 CLN3
13 mucopolysaccharidosis, type iiib 9.9 TPP1 CLN6
14 gm1 gangliosidosis 9.8 CLN6 CLN3
15 tay-sachs disease 9.8 TPP1 CLN6 CLN3
16 epilepsy 9.8 KCTD7 CLN8 CLN6 CLN5 CLN3
17 mucolipidosis 9.7 CTSD CLN6 CLN3
18 gaucher disease, type i 9.7 CTSD ATP13A2
19 progressive myoclonus epilepsy 9.6 TPP1 KCTD7 CLN6 CLN5 CLN3
20 ceroid lipofuscinosis, neuronal, 6 9.5 TPP1 MFSD8 CLN8 CLN6 CLN5
21 adult neuronal ceroid lipofuscinosis 9.4 TPP1 PPT1 DNAJC5 CTSF CLN6
22 unverricht-lundborg syndrome 9.4 PPT1 MFSD8 KCTD7 CLN6 CLN5 CLN3
23 ceroid lipofuscinosis, neuronal, 9 9.3 MFSD8 KCTD7 DNAJC5 CLN8 CLN6 CLN5
24 progressive myoclonus epilepsy 3 9.3 TPP1 PPT1 MFSD8 KCTD7 CLN8 CLN6
25 lipid storage disease 9.2 TPP1 PPT1 CLN8 CLN6 CLN5 CLN3
26 mucopolysaccharidosis, type iiia 9.2 TPP1 PPT1 DNAJC5 CLN6 CLN5 CLN3
27 visual epilepsy 9.1 PPT1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
28 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 9.1 PPT1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
29 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 8.9 TPP1 PPT1 DNAJC5 CTSD CLN6 CLN3
30 mucopolysaccharidosis-plus syndrome 8.8 TPP1 PPT1 DNAJC5 CTSD CLN6 CLN5
31 lysosomal storage disease 8.7 TPP1 PPT1 CTSD CLN6 CLN5 CLN3
32 ceroid lipofuscinosis, neuronal, 11 8.7 PPT1 MFSD8 KCTD7 DNAJC5 CTSF CLN8
33 mucopolysaccharidosis iii 8.6 TPP1 PPT1 MFSD8 DNAJC5 CTSD CLN6
34 ceroid lipofuscinosis, neuronal, 2 8.4 TPP1 PPT1 MFSD8 DNAJC5 CTSD CLN8
35 neuronal ceroid-lipofuscinoses 8.3 TPP1 PPT1 MFSD8 DNAJC5 CTSF CTSD
36 spinocerebellar ataxia, autosomal recessive 7 7.9 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
37 ceroid lipofuscinosis, neuronal, 3 7.9 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
38 ceroid lipofuscinosis, neuronal, 1 7.6 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
39 ceroid lipofuscinosis, neuronal, 7 7.6 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
40 ceroid lipofuscinosis, neuronal, 10 7.6 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF

Graphical network of the top 20 diseases related to Ceroid Lipofuscinosis, Neuronal, 13:



Diseases related to Ceroid Lipofuscinosis, Neuronal, 13

Symptoms & Phenotypes for Ceroid Lipofuscinosis, Neuronal, 13

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 13:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 31 HP:0001347
2 emotional lability 31 HP:0000712
3 depressivity 31 HP:0000716
4 ataxia 31 HP:0001251
5 dysarthria 31 HP:0001260
6 tremor 31 HP:0001337
7 myoclonus 31 HP:0001336
8 abnormality of extrapyramidal motor function 31 HP:0002071
9 babinski sign 31 HP:0003487
10 cerebellar atrophy 31 HP:0001272
11 dementia 31 HP:0000726
12 diffuse cerebral atrophy 31 HP:0002506
13 primitive reflex 31 HP:0002476
14 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
hyperreflexia
ataxia
dysarthria
tremor
more
Laboratory Abnormalities:
skin fibroblasts show osmiophilic cytoplasmic inclusions

Neurologic Behavioral Psychiatric Manifestations:
emotional lability
depression
behavioral changes

Clinical features from OMIM®:

615362 (Updated 20-May-2021)

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 13:


seizures; ataxia; tremor; myoclonus; abnormality of extrapyramidal motor function; cerebellar signs

MGI Mouse Phenotypes related to Ceroid Lipofuscinosis, Neuronal, 13:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ATP13A2 CLCN6 CLN3 CLN6 CLN8 CTSD
2 nervous system MP:0003631 9.93 ATP13A2 CLCN6 CLN3 CLN5 CLN6 CLN8
3 pigmentation MP:0001186 9.26 ATP13A2 CLN8 MFSD8 PPT1
4 vision/eye MP:0005391 9.23 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 13

Search Clinical Trials , NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 13

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 13

Genetic tests related to Ceroid Lipofuscinosis, Neuronal, 13:

# Genetic test Affiliating Genes
1 Ceroid Lipofuscinosis, Neuronal, 13 29 CTSF
2 Cln13 Disease 29

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 13

MalaCards organs/tissues related to Ceroid Lipofuscinosis, Neuronal, 13:

40
Eye, Brain

Publications for Ceroid Lipofuscinosis, Neuronal, 13

Articles related to Ceroid Lipofuscinosis, Neuronal, 13:

(show all 12)
# Title Authors PMID Year
1
Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs disease. 6 57
25274848 2014
2
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. 57 6
23297359 2013
3
Murine cathepsin F deficiency causes neuronal lipofuscinosis and late-onset neurological disease. 57
16508006 2006
4
Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy. 61
33242182 2021
5
Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation. 61
31029456 2019
6
Comparative transcriptomics reveals mechanisms underlying cln3-deficiency phenotypes in Dictyostelium. 61
30771446 2019
7
Novel compound heterozygous mutations causing Kufs disease type B. 61
29120254 2018
8
Cln5 is secreted and functions as a glycoside hydrolase in Dictyostelium. 61
29128403 2018
9
Using the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosis. 61
27881166 2016
10
Cell biology of the NCL proteins: What they do and don't do. 61
25962910 2015
11
Genetics of the neuronal ceroid lipofuscinoses (Batten disease). 61
26026925 2015
12
Brain imaging in Kufs disease type B: case reports. 61
26141065 2015

Variations for Ceroid Lipofuscinosis, Neuronal, 13

ClinVar genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 13:

6 (show all 28)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CTSF NM_003793.4(CTSF):c.1373G>C (p.Gly458Ala) SNV Pathogenic 60676 rs397514732 GRCh37: 11:66331566-66331566
GRCh38: 11:66564095-66564095
2 CTSF NM_003793.4(CTSF):c.1439C>T (p.Ser480Leu) SNV Pathogenic 60677 rs397514733 GRCh37: 11:66331420-66331420
GRCh38: 11:66563949-66563949
3 CTSF NM_003793.4(CTSF):c.692A>G (p.Tyr231Cys) SNV Pathogenic 60678 rs143889283 GRCh37: 11:66333791-66333791
GRCh38: 11:66566320-66566320
4 CTSF NM_003793.4(CTSF):c.954del (p.Ser319fs) Deletion Pathogenic 60679 rs753084727 GRCh37: 11:66333312-66333312
GRCh38: 11:66565841-66565841
5 CTSF NM_003793.4(CTSF):c.213+1G>C SNV Pathogenic 208844 rs797045136 GRCh37: 11:66335744-66335744
GRCh38: 11:66568273-66568273
6 CTSF NM_003793.4(CTSF):c.962A>G (p.Gln321Arg) SNV Pathogenic 60675 rs397514731 GRCh37: 11:66333304-66333304
GRCh38: 11:66565833-66565833
7 CTSF NM_003793.4(CTSF):c.843_844del (p.Ala282fs) Deletion Pathogenic 434869 rs1555058286 GRCh37: 11:66333516-66333517
GRCh38: 11:66566045-66566046
8 CTSF NM_003793.4(CTSF):c.164del (p.Ala55fs) Deletion Pathogenic 1034023 GRCh37: 11:66335794-66335794
GRCh38: 11:66568323-66568323
9 CTSF NM_003793.4(CTSF):c.594T>A (p.Tyr198Ter) SNV Pathogenic 1034024 GRCh37: 11:66334730-66334730
GRCh38: 11:66567259-66567259
10 CTSF NM_003793.4(CTSF):c.1247T>C (p.Ile416Thr) SNV Pathogenic 807589 rs1565311875 GRCh37: 11:66332103-66332103
GRCh38: 11:66564632-66564632
11 CTSF NM_003793.4(CTSF):c.1046-2A>C SNV Likely pathogenic 265519 rs141915593 GRCh37: 11:66332479-66332479
GRCh38: 11:66565008-66565008
12 CTSF NM_003793.4(CTSF):c.955T>G (p.Ser319Ala) SNV Uncertain significance 935571 GRCh37: 11:66333311-66333311
GRCh38: 11:66565840-66565840
13 CTSF NM_003793.4(CTSF):c.1350del (p.Asn451fs) Deletion Uncertain significance 580946 rs1565311637 GRCh37: 11:66331589-66331589
GRCh38: 11:66564118-66564118
14 CTSF NM_003793.4(CTSF):c.614G>A (p.Arg205Gln) SNV Uncertain significance 663170 rs142782021 GRCh37: 11:66333869-66333869
GRCh38: 11:66566398-66566398
15 CTSF NM_003793.4(CTSF):c.597G>A (p.Glu199=) SNV Likely benign 775294 rs200932066 GRCh37: 11:66334727-66334727
GRCh38: 11:66567256-66567256
16 CTSF NM_003793.4(CTSF):c.676C>T (p.Arg226Cys) SNV Likely benign 588058 rs143313688 GRCh37: 11:66333807-66333807
GRCh38: 11:66566336-66566336
17 CTSF NM_003793.4(CTSF):c.683C>G (p.Thr228Arg) SNV Likely benign 424983 rs148611356 GRCh37: 11:66333800-66333800
GRCh38: 11:66566329-66566329
18 CTSF NM_003793.4(CTSF):c.1158C>T (p.Asn386=) SNV Benign 587844 rs116329758 GRCh37: 11:66332365-66332365
GRCh38: 11:66564894-66564894
19 CTSF NM_003793.4(CTSF):c.1321C>T (p.Arg441Cys) SNV Benign 724103 rs150922871 GRCh37: 11:66332029-66332029
GRCh38: 11:66564558-66564558
20 CTSF NM_003793.4(CTSF):c.418G>A (p.Ala140Thr) SNV Benign 587848 rs79274952 GRCh37: 11:66335028-66335028
GRCh38: 11:66567557-66567557
21 CTSF NM_003793.4(CTSF):c.1261C>T (p.Arg421Trp) SNV Benign 376976 rs28464796 GRCh37: 11:66332089-66332089
GRCh38: 11:66564618-66564618
22 CTSF NM_003793.4(CTSF):c.458A>G (p.Gln153Arg) SNV Benign 259170 rs11550508 GRCh37: 11:66334988-66334988
GRCh38: 11:66567517-66567517
23 CTSF NM_003793.4(CTSF):c.1368C>T (p.Asp456=) SNV Benign 259167 rs148155987 GRCh37: 11:66331571-66331571
GRCh38: 11:66564100-66564100
24 CTSF NM_003793.4(CTSF):c.939G>A (p.Gly313=) SNV Benign 259173 rs114727660 GRCh37: 11:66333327-66333327
GRCh38: 11:66565856-66565856
25 CTSF NM_003793.4(CTSF):c.1401T>C (p.Arg467=) SNV Benign 259168 rs572846 GRCh37: 11:66331458-66331458
GRCh38: 11:66563987-66563987
26 CTSF NM_003793.4(CTSF):c.762G>A (p.Arg254=) SNV Benign 259172 rs545009 GRCh37: 11:66333598-66333598
GRCh38: 11:66566127-66566127
27 CTSF NM_003793.4(CTSF):c.219T>C (p.Gly73=) SNV Benign 259169 rs1127894 GRCh37: 11:66335548-66335548
GRCh38: 11:66568077-66568077
28 CTSF NM_003793.4(CTSF):c.126C>T (p.Pro42=) SNV Benign 259166 rs1044522 GRCh37: 11:66335832-66335832
GRCh38: 11:66568361-66568361

UniProtKB/Swiss-Prot genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 13:

72
# Symbol AA change Variation ID SNP ID
1 CTSF p.Tyr231Cys VAR_070159 rs143889283
2 CTSF p.Gln321Arg VAR_070160 rs397514731
3 CTSF p.Gly458Ala VAR_070161 rs397514732
4 CTSF p.Ser480Leu VAR_070162 rs397514733

Expression for Ceroid Lipofuscinosis, Neuronal, 13

Search GEO for disease gene expression data for Ceroid Lipofuscinosis, Neuronal, 13.

Pathways for Ceroid Lipofuscinosis, Neuronal, 13

Pathways related to Ceroid Lipofuscinosis, Neuronal, 13 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.27 TPP1 PPT1 MFSD8 CTSF CTSD CLN5

GO Terms for Ceroid Lipofuscinosis, Neuronal, 13

Cellular components related to Ceroid Lipofuscinosis, Neuronal, 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane raft GO:0045121 9.65 TPP1 PPT1 CTSD CLN6 CLN3
2 lysosomal lumen GO:0043202 9.55 TPP1 PPT1 CTSF CTSD ATP13A2
3 synaptic vesicle GO:0008021 9.54 PPT1 DNAJC5 CLN3
4 melanosome GO:0042470 9.5 TPP1 DNAJC5 CTSD
5 lysosomal membrane GO:0005765 9.5 MFSD8 DNAJC5 CTSD CLN5 CLN3 CLCN6
6 lysosome GO:0005764 9.23 TPP1 PPT1 MFSD8 CTSF CTSD CLN5

Biological processes related to Ceroid Lipofuscinosis, Neuronal, 13 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.72 PPT1 CLN8 CLN6
2 negative regulation of neuron apoptotic process GO:0043524 9.69 PPT1 DNAJC5 CLN3
3 lipid homeostasis GO:0055088 9.58 CLN8 ATP13A2
4 neuromuscular process controlling balance GO:0050885 9.58 TPP1 CLN8 CLN3
5 neurotransmitter secretion GO:0007269 9.57 PPT1 DNAJC5
6 adult locomotory behavior GO:0008344 9.56 PPT1 CLN8
7 autophagosome maturation GO:0097352 9.54 MFSD8 CLN3
8 negative regulation of proteolysis GO:0045861 9.52 CLN8 CLN3
9 associative learning GO:0008306 9.5 PPT1 CLN8 CLN3
10 cellular protein catabolic process GO:0044257 9.49 PPT1 CLN8
11 lysosomal protein catabolic process GO:1905146 9.48 TPP1 CLN3
12 autophagosome-lysosome fusion GO:0061909 9.46 CLN3 ATP13A2
13 lysosomal lumen acidification GO:0007042 9.46 PPT1 CLN6 CLN5 CLN3
14 positive regulation of pinocytosis GO:0048549 9.43 PPT1 CLN3
15 cellular macromolecule catabolic process GO:0044265 9.43 PPT1 CLN8 CLN6
16 regulation of lysosomal protein catabolic process GO:1905165 9.37 MFSD8 ATP13A2
17 protein catabolic process GO:0030163 9.35 TPP1 PPT1 CLN8 CLN6 CLN5
18 lysosome organization GO:0007040 9.17 TPP1 PPT1 MFSD8 CLN8 CLN6 CLN5

Molecular functions related to Ceroid Lipofuscinosis, Neuronal, 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysophosphatidic acid binding GO:0035727 9.13 TPP1 PPT1 CLN6
2 sulfatide binding GO:0120146 8.92 TPP1 PPT1 CLN6 CLN3

Sources for Ceroid Lipofuscinosis, Neuronal, 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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