MCID: CRD239
MIFTS: 33

Ceroid Lipofuscinosis, Neuronal, 13

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

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 13

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 13:

Name: Ceroid Lipofuscinosis, Neuronal, 13 57 75 29 6 73
Cln13 57 12 75
Neuronal Ceroid Lipofuscinosis 13 Kufs Type 12 75
Neuronal Ceroid Lipofuscinosis 13 12 15
Cln13 Disease 59 29
Ceroid Lipofuscinosis, Neuronal, 13, Kufs Type 57
Lipofuscinosis, Ceroid, Neuronal, Type 13 40

Characteristics:

Orphanet epidemiological data:

59
cln13 disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
adult onset
progressive disorder


HPO:

32
ceroid lipofuscinosis, neuronal, 13:
Onset and clinical course adult onset progressive
Inheritance autosomal recessive inheritance


Classifications:



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)

MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 13, also known as cln13, is related to cerebral atrophy and ceroid lipofuscinosis, neuronal, 9, and has symptoms including ataxia, myoclonus and seizures. 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 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 : 75 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 14)
# Related Disease Score Top Affiliating Genes
1 cerebral atrophy 9.7 CLN8 DNAJC5
2 ceroid lipofuscinosis, neuronal, 9 9.5 CLN5 CLN8
3 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 9.3 CLN5 CLN8
4 epilepsy 9.3 CLN8 KCTD7
5 lipid storage disease 9.2 CLN5 CLN8
6 ceroid lipofuscinosis, neuronal, 10 8.9 CLN5 CLN8 KCTD7
7 ceroid storage disease 8.8 CLN5 CLN8 DNAJC5
8 ceroid lipofuscinosis, neuronal, 7 8.8 CLN5 CLN8 DNAJC5
9 neuronal ceroid-lipofuscinoses 8.3 CLN5 CLN8 CTSF DNAJC5
10 visual epilepsy 8.3 CLN5 CLN8 DNAJC5 KCTD7
11 ceroid lipofuscinosis, neuronal, 1 8.3 CLN5 CLN8 DNAJC5 KCTD7
12 ceroid lipofuscinosis, neuronal, 11 7.8 CLN5 CLN8 CTSF DNAJC5 KCTD7
13 ceroid lipofuscinosis, neuronal, 2 7.8 CLN5 CLN8 CTSF DNAJC5 KCTD7
14 neuronal ceroid lipofuscinosis 7.8 CLN5 CLN8 CTSF DNAJC5 KCTD7

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 13:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 emotional lability 32 HP:0000712
2 depressivity 32 HP:0000716
3 seizures 32 HP:0001250
4 ataxia 32 HP:0001251
5 dysarthria 32 HP:0001260
6 tremor 32 HP:0001337
7 hyperreflexia 32 HP:0001347
8 myoclonus 32 HP:0001336
9 babinski sign 32 HP:0003487
10 dementia 32 HP:0000726
11 abnormality of extrapyramidal motor function 32 HP:0002071
12 cerebellar atrophy 32 HP:0001272
13 diffuse cerebral atrophy 32 HP:0002506
14 primitive reflex 32 HP:0002476

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 13:


ataxia, myoclonus, seizures, tremor, 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 29 CTSF
2 Cln13 Disease 29

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 13

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

41
Skin

Publications for Ceroid Lipofuscinosis, Neuronal, 13

Variations for Ceroid Lipofuscinosis, Neuronal, 13

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

75
# 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 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 CTSF NM_003793.3(CTSF): c.962A> G (p.Gln321Arg) single nucleotide variant Pathogenic rs397514731 GRCh37 Chromosome 11, 66333304: 66333304
2 CTSF NM_003793.3(CTSF): c.962A> G (p.Gln321Arg) single nucleotide variant Pathogenic rs397514731 GRCh38 Chromosome 11, 66565833: 66565833
3 CTSF NM_003793.3(CTSF): c.1373G> C (p.Gly458Ala) single nucleotide variant Pathogenic rs397514732 GRCh37 Chromosome 11, 66331566: 66331566
4 CTSF NM_003793.3(CTSF): c.1373G> C (p.Gly458Ala) single nucleotide variant Pathogenic rs397514732 GRCh38 Chromosome 11, 66564095: 66564095
5 CTSF NM_003793.3(CTSF): c.1439C> T (p.Ser480Leu) single nucleotide variant Pathogenic rs397514733 GRCh37 Chromosome 11, 66331420: 66331420
6 CTSF NM_003793.3(CTSF): c.1439C> T (p.Ser480Leu) single nucleotide variant Pathogenic rs397514733 GRCh38 Chromosome 11, 66563949: 66563949
7 CTSF NM_003793.3(CTSF): c.692A> G (p.Tyr231Cys) single nucleotide variant Pathogenic rs143889283 GRCh37 Chromosome 11, 66333791: 66333791
8 CTSF NM_003793.3(CTSF): c.692A> G (p.Tyr231Cys) single nucleotide variant Pathogenic rs143889283 GRCh38 Chromosome 11, 66566320: 66566320
9 CTSF NM_003793.3(CTSF): c.954delC (p.Ser319Leufs) deletion Pathogenic rs753084727 GRCh37 Chromosome 11, 66333312: 66333312
10 CTSF NM_003793.3(CTSF): c.954delC (p.Ser319Leufs) deletion Pathogenic rs753084727 GRCh38 Chromosome 11, 66565841: 66565841
11 CTSF NM_003793.3(CTSF): c.213+1G> C single nucleotide variant Pathogenic rs797045136 GRCh37 Chromosome 11, 66335744: 66335744
12 CTSF NM_003793.3(CTSF): c.213+1G> C single nucleotide variant Pathogenic rs797045136 GRCh38 Chromosome 11, 66568273: 66568273
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_844delGG (p.Ala282Cysfs) deletion Pathogenic GRCh37 Chromosome 11, 66333516: 66333517
24 CTSF NM_003793.3(CTSF): c.843_844delGG (p.Ala282Cysfs) deletion Pathogenic GRCh38 Chromosome 11, 66566045: 66566046

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 10.71 CLN5 CTSF

GO Terms for Ceroid Lipofuscinosis, Neuronal, 13

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

# Name GO ID Score Top Affiliating Genes
1 protein catabolic process GO:0030163 8.62 CLN5 CLN8

Sources for Ceroid Lipofuscinosis, Neuronal, 13

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