CLN13
MCID: CRD239
MIFTS: 36

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 58 76 30 6 74
Cln13 58 12 76
Neuronal Ceroid Lipofuscinosis 13 Kufs Type 12 76
Neuronal Ceroid Lipofuscinosis 13 12 15
Cln13 Disease 60 30
Ceroid Lipofuscinosis, Neuronal, 13, Kufs Type 58
Lipofuscinosis, Ceroid, Neuronal, Type 13 41

Characteristics:

Orphanet epidemiological data:

60
cln13 disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
adult onset
progressive disorder


HPO:

33
ceroid lipofuscinosis, neuronal, 13:
Onset and clinical course adult onset progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ceroid Lipofuscinosis, Neuronal, 13

OMIM : 58 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)

MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 13, also known as cln13, is related to ceroid lipofuscinosis, neuronal, 3 and ceroid lipofuscinosis, neuronal, 9, 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 skin and eye, and related phenotypes are emotional lability and depressivity

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 : 76 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

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:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 emotional lability 33 HP:0000712
2 depressivity 33 HP:0000716
3 seizures 33 HP:0001250
4 ataxia 33 HP:0001251
5 dysarthria 33 HP:0001260
6 tremor 33 HP:0001337
7 hyperreflexia 33 HP:0001347
8 myoclonus 33 HP:0001336
9 babinski sign 33 HP:0003487
10 dementia 33 HP:0000726
11 abnormality of extrapyramidal motor function 33 HP:0002071
12 cerebellar atrophy 33 HP:0001272
13 primitive reflex 33 HP:0002476
14 diffuse cerebral atrophy 33 HP:0002506

Symptoms via clinical synopsis from OMIM:

58
Neurologic Behavioral Psychiatric Manifestations:
emotional lability
depression
behavioral changes

Laboratory Abnormalities:
skin fibroblasts show osmiophilic cytoplasmic inclusions

Neurologic Central Nervous System:
seizures
ataxia
dysarthria
tremor
hyperreflexia
more

Clinical features from OMIM:

615362

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 13:


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

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 30 CTSF
2 Cln13 Disease 30

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 13

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

42
Skin, Eye

Publications for Ceroid Lipofuscinosis, Neuronal, 13

Variations for Ceroid Lipofuscinosis, Neuronal, 13

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

76
# 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

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

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 CTSF NM_003793.3(CTSF): c.213+1G> C single nucleotide variant Pathogenic rs797045136 GRCh37 Chromosome 11, 66335744: 66335744
2 CTSF NM_003793.3(CTSF): c.213+1G> C single nucleotide variant Pathogenic rs797045136 GRCh38 Chromosome 11, 66568273: 66568273
3 CTSF NM_003793.3(CTSF): c.962A> G (p.Gln321Arg) single nucleotide variant Pathogenic rs397514731 GRCh37 Chromosome 11, 66333304: 66333304
4 CTSF NM_003793.3(CTSF): c.962A> G (p.Gln321Arg) single nucleotide variant Pathogenic rs397514731 GRCh38 Chromosome 11, 66565833: 66565833
5 CTSF NM_003793.3(CTSF): c.1373G> C (p.Gly458Ala) single nucleotide variant Pathogenic rs397514732 GRCh37 Chromosome 11, 66331566: 66331566
6 CTSF NM_003793.3(CTSF): c.1373G> C (p.Gly458Ala) single nucleotide variant Pathogenic rs397514732 GRCh38 Chromosome 11, 66564095: 66564095
7 CTSF NM_003793.3(CTSF): c.1439C> T (p.Ser480Leu) single nucleotide variant Pathogenic rs397514733 GRCh37 Chromosome 11, 66331420: 66331420
8 CTSF NM_003793.3(CTSF): c.1439C> T (p.Ser480Leu) single nucleotide variant Pathogenic rs397514733 GRCh38 Chromosome 11, 66563949: 66563949
9 CTSF NM_003793.3(CTSF): c.692A> G (p.Tyr231Cys) single nucleotide variant Pathogenic rs143889283 GRCh37 Chromosome 11, 66333791: 66333791
10 CTSF NM_003793.3(CTSF): c.692A> G (p.Tyr231Cys) single nucleotide variant Pathogenic rs143889283 GRCh38 Chromosome 11, 66566320: 66566320
11 CTSF NM_003793.3(CTSF): c.954delC (p.Ser319Leufs) deletion Pathogenic rs753084727 GRCh37 Chromosome 11, 66333312: 66333312
12 CTSF NM_003793.3(CTSF): c.954delC (p.Ser319Leufs) deletion Pathogenic rs753084727 GRCh38 Chromosome 11, 66565841: 66565841
13 CTSF NM_003793.3(CTSF): c.1401T> C (p.Arg467=) single nucleotide variant Benign rs572846 GRCh38 Chromosome 11, 66563987: 66563987
14 CTSF NM_003793.3(CTSF): c.1401T> C (p.Arg467=) single nucleotide variant Benign rs572846 GRCh37 Chromosome 11, 66331458: 66331458
15 CTSF NM_003793.3(CTSF): c.762G> A (p.Arg254=) single nucleotide variant Benign rs545009 GRCh38 Chromosome 11, 66566127: 66566127
16 CTSF NM_003793.3(CTSF): c.762G> A (p.Arg254=) single nucleotide variant Benign rs545009 GRCh37 Chromosome 11, 66333598: 66333598
17 CTSF NM_003793.3(CTSF): c.219T> C (p.Gly73=) single nucleotide variant Benign rs1127894 GRCh38 Chromosome 11, 66568077: 66568077
18 CTSF NM_003793.3(CTSF): c.219T> C (p.Gly73=) single nucleotide variant Benign rs1127894 GRCh37 Chromosome 11, 66335548: 66335548
19 CTSF NM_003793.3(CTSF): c.126C> T (p.Pro42=) single nucleotide variant Benign rs1044522 GRCh37 Chromosome 11, 66335832: 66335832
20 CTSF NM_003793.3(CTSF): c.126C> T (p.Pro42=) single nucleotide variant Benign rs1044522 GRCh38 Chromosome 11, 66568361: 66568361
21 CTSF NM_003793.3(CTSF): c.683C> G (p.Thr228Arg) single nucleotide variant Uncertain significance rs148611356 GRCh37 Chromosome 11, 66333800: 66333800
22 CTSF NM_003793.3(CTSF): c.683C> G (p.Thr228Arg) single nucleotide variant Uncertain significance rs148611356 GRCh38 Chromosome 11, 66566329: 66566329
23 CTSF NM_003793.3(CTSF): c.843_844del (p.Ala282Cysfs) deletion Pathogenic rs1555058286 GRCh37 Chromosome 11, 66333516: 66333517
24 CTSF NM_003793.3(CTSF): c.843_844del (p.Ala282Cysfs) deletion Pathogenic rs1555058286 GRCh38 Chromosome 11, 66566045: 66566046
25 CTSF NM_003793.3(CTSF): c.1350delG (p.Asn451Thrfs) deletion Uncertain significance GRCh38 Chromosome 11, 66564118: 66564118
26 CTSF NM_003793.3(CTSF): c.1350delG (p.Asn451Thrfs) deletion Uncertain significance GRCh37 Chromosome 11, 66331589: 66331589

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 10.89 CLN3 CLN5 CTSF

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 synaptic vesicle GO:0008021 9.16 CLN3 DNAJC5
2 lysosome GO:0005764 9.13 CLN3 CLN5 CTSF
3 lysosomal membrane GO:0005765 8.8 CLN3 CLN5 DNAJC5

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.16 CLN3 DNAJC5
2 protein catabolic process GO:0030163 8.96 CLN3 CLN5
3 lysosomal lumen acidification GO:0007042 8.62 CLN3 CLN5

Sources for Ceroid Lipofuscinosis, Neuronal, 13

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17 EFO
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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
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75 UMLS via Orphanet
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