CLN11
MCID: CRD166
MIFTS: 42

Ceroid Lipofuscinosis, Neuronal, 11 (CLN11)

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

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 11

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 11:

Name: Ceroid Lipofuscinosis, Neuronal, 11 58 76 30 13 6 74
Cln11 58 12 76
Neuronal Ceroid Lipofuscinosis 11 12 15
Lipofuscinosis, Ceroid, Neuronal, Type 11 41
Cln11 Disease 60

Characteristics:

Orphanet epidemiological data:

60
cln11 disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
rapidly progressive
onset in early twenties
one italian family has been reported (last curated july 2012)


HPO:

33
ceroid lipofuscinosis, neuronal, 11:
Onset and clinical course rapidly progressive
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110732
OMIM 58 614706
MeSH 45 D009472
ICD10 34 E75.4
ICD10 via Orphanet 35 E75.4
Orphanet 60 ORPHA314629
UMLS 74 C3539123

Summaries for Ceroid Lipofuscinosis, Neuronal, 11

UniProtKB/Swiss-Prot : 76 Ceroid lipofuscinosis, neuronal, 11: A form of neuronal ceroid lipofuscinosis characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material.

MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 11, also known as cln11, is related to visual cortex disease and progressive myoclonus epilepsy, and has symptoms including seizures, ataxia and myoclonic seizures. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 11 is GRN (Granulin Precursor), and among its related pathways/superpathways are Lysosome and MHC class II antigen presentation. The drugs Glembatumumab vedotin and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are mental deterioration and ataxia

Disease Ontology : 12 A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has material basis in homozygous mutation in the GRN gene on chromosome 17q.

OMIM : 58 Neuronal ceroid lipofuscinosis-11 is an autosomal recessive neurologic disorder characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur (summary by Smith et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730). (614706)

Related Diseases for Ceroid Lipofuscinosis, Neuronal, 11

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

(show all 17)
# Related Disease Score Top Affiliating Genes
1 visual cortex disease 9.9 CLN8 MFSD8
2 progressive myoclonus epilepsy 9.9 CLN6 KCTD7
3 visual pathway disease 9.9 CLN8 MFSD8
4 ceroid lipofuscinosis, neuronal, 9 9.8 CLN5 CLN6 CLN8 DNAJC5
5 adult neuronal ceroid lipofuscinosis 9.7 CLN6 DNAJC5 PPT1
6 ceroid lipofuscinosis, neuronal, 13 9.7 CLN5 CLN8 CTSF DNAJC5 KCTD7
7 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 9.6 CLN5 CLN6 CLN8 MFSD8
8 cerebral atrophy 9.6 CLN6 CTSD DNAJC5
9 lipid storage disease 9.3 CLN3 CLN5 CLN6 CLN8 PPT1
10 ceroid lipofuscinosis, neuronal, 7 9.3 CLN3 CLN5 CLN6 CLN8 DNAJC5 MFSD8
11 ceroid storage disease 9.2 CLN3 CLN5 CLN6 CLN8 DNAJC5 PPT1
12 ceroid lipofuscinosis, neuronal, 10 9.1 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
13 ceroid lipofuscinosis, neuronal, 3 9.1 CLN3 CLN5 CLN6 CTSD PPT1
14 ceroid lipofuscinosis, neuronal, 1 8.3 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
15 neuronal ceroid-lipofuscinoses 8.1 CLN3 CLN5 CLN6 CLN8 CTSD CTSF
16 ceroid lipofuscinosis, neuronal, 2 8.1 CLN3 CLN5 CLN6 CLN8 CTSD CTSF
17 neuronal ceroid lipofuscinosis 7.8 ATP13A2 CLN3 CLN5 CLN6 CLN8 CTSD

Graphical network of the top 20 diseases related to Ceroid Lipofuscinosis, Neuronal, 11:



Diseases related to Ceroid Lipofuscinosis, Neuronal, 11

Symptoms & Phenotypes for Ceroid Lipofuscinosis, Neuronal, 11

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 11:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 mental deterioration 33 occasional (7.5%) HP:0001268
2 ataxia 33 HP:0001251
3 eeg abnormality 33 HP:0002353
4 visual impairment 33 HP:0000505
5 optic atrophy 33 HP:0000648
6 generalized myoclonic seizures 33 HP:0002123
7 cerebellar atrophy 33 HP:0001272
8 retinal dystrophy 33 HP:0000556

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
ataxia
cerebellar atrophy
myoclonic seizures
eeg abnormalities
more
Laboratory Abnormalities:
'fingerprint' profiles ultrastructurally

Head And Neck Eyes:
optic atrophy
retinal dystrophy
visual impairment, progressive

Clinical features from OMIM:

614706

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 11:


seizures, ataxia, myoclonic seizures

MGI Mouse Phenotypes related to Ceroid Lipofuscinosis, Neuronal, 11:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.96 ATP13A2 CLN3 CLN6 CLN8 CTSD CTSF
2 nervous system MP:0003631 9.9 ATP13A2 CLN3 CLN5 CLN6 CLN8 CTSD
3 pigmentation MP:0001186 9.35 ATP13A2 CLN8 GRN MFSD8 PPT1
4 vision/eye MP:0005391 9.28 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 11

Drugs for Ceroid Lipofuscinosis, Neuronal, 11 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Glembatumumab vedotin Investigational Phase 1, Phase 2 1182215-65-1
2 Immunoglobulins Phase 1, Phase 2
3 Antibodies, Monoclonal Phase 1, Phase 2
4 Antineoplastic Agents, Immunological Phase 1, Phase 2
5 Antibodies Phase 1, Phase 2
6 Immunologic Factors Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase I/II Study of CR011-vcMMAE in Subjects With Unresectable Stage III or Stage IV Melanoma Completed NCT00412828 Phase 1, Phase 2 CR011-vcMMAE

Search NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 11

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 11

Genetic tests related to Ceroid Lipofuscinosis, Neuronal, 11:

# Genetic test Affiliating Genes
1 Ceroid Lipofuscinosis, Neuronal, 11 30 GRN

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 11

MalaCards organs/tissues related to Ceroid Lipofuscinosis, Neuronal, 11:

42
Eye

Publications for Ceroid Lipofuscinosis, Neuronal, 11

Variations for Ceroid Lipofuscinosis, Neuronal, 11

ClinVar genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 11:

6 (show all 40)
# Gene Variation Type Significance SNP ID Assembly Location
1 GRN NM_002087.3(GRN): c.264+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs60100877 GRCh37 Chromosome 17, 42426926: 42426926
2 GRN NM_002087.3(GRN): c.264+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs60100877 GRCh38 Chromosome 17, 44349558: 44349558
3 GRN NM_002087.3(GRN): c.813_816delCACT (p.Thr272Serfs) deletion Pathogenic rs63749877 GRCh37 Chromosome 17, 42428509: 42428512
4 GRN NM_002087.3(GRN): c.813_816delCACT (p.Thr272Serfs) deletion Pathogenic rs63749877 GRCh38 Chromosome 17, 44351141: 44351144
5 GRN NM_002087.3(GRN): c.*78C> T single nucleotide variant Benign rs5848 GRCh37 Chromosome 17, 42430244: 42430244
6 GRN NM_002087.3(GRN): c.*78C> T single nucleotide variant Benign rs5848 GRCh38 Chromosome 17, 44352876: 44352876
7 GRN NM_002087.3(GRN): c.55C> T (p.Arg19Trp) single nucleotide variant Benign/Likely benign rs63750723 GRCh37 Chromosome 17, 42426587: 42426587
8 GRN NM_002087.3(GRN): c.55C> T (p.Arg19Trp) single nucleotide variant Benign/Likely benign rs63750723 GRCh38 Chromosome 17, 44349219: 44349219
9 GRN NM_002087.3(GRN): c.359C> A (p.Ser120Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs63750043 GRCh37 Chromosome 17, 42427605: 42427605
10 GRN NM_002087.3(GRN): c.359C> A (p.Ser120Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs63750043 GRCh38 Chromosome 17, 44350237: 44350237
11 GRN NM_002087.3(GRN): c.709-2A> G single nucleotide variant Pathogenic rs63750548 GRCh37 Chromosome 17, 42428403: 42428403
12 GRN NM_002087.3(GRN): c.709-2A> G single nucleotide variant Pathogenic rs63750548 GRCh38 Chromosome 17, 44351035: 44351035
13 GRN NM_002087.3(GRN): c.836-1G> C single nucleotide variant Pathogenic rs63751296 GRCh37 Chromosome 17, 42428730: 42428730
14 GRN NM_002087.3(GRN): c.836-1G> C single nucleotide variant Pathogenic rs63751296 GRCh38 Chromosome 17, 44351362: 44351362
15 GRN NM_002087.3(GRN): c.933+1G> A single nucleotide variant Likely pathogenic rs63750707 GRCh37 Chromosome 17, 42428829: 42428829
16 GRN NM_002087.3(GRN): c.933+1G> A single nucleotide variant Likely pathogenic rs63750707 GRCh38 Chromosome 17, 44351461: 44351461
17 GRN NM_002087.3(GRN): c.970G> A (p.Ala324Thr) single nucleotide variant Uncertain significance rs63750541 GRCh37 Chromosome 17, 42428954: 42428954
18 GRN NM_002087.3(GRN): c.970G> A (p.Ala324Thr) single nucleotide variant Uncertain significance rs63750541 GRCh38 Chromosome 17, 44351586: 44351586
19 GRN NM_002087.3(GRN): c.1297C> T (p.Arg433Trp) single nucleotide variant Benign/Likely benign rs63750412 GRCh37 Chromosome 17, 42429500: 42429500
20 GRN NM_002087.3(GRN): c.1297C> T (p.Arg433Trp) single nucleotide variant Benign/Likely benign rs63750412 GRCh38 Chromosome 17, 44352132: 44352132
21 GRN NM_002087.3(GRN): c.1544G> C (p.Gly515Ala) single nucleotide variant Benign/Likely benign rs25647 GRCh37 Chromosome 17, 42429839: 42429839
22 GRN NM_002087.3(GRN): c.1544G> C (p.Gly515Ala) single nucleotide variant Benign/Likely benign rs25647 GRCh38 Chromosome 17, 44352471: 44352471
23 GRN NM_002087.3(GRN): c.835+7G> A single nucleotide variant Benign/Likely benign rs72824736 GRCh38 Chromosome 17, 44351170: 44351170
24 GRN NM_002087.3(GRN): c.835+7G> A single nucleotide variant Benign/Likely benign rs72824736 GRCh37 Chromosome 17, 42428538: 42428538
25 GRN NM_002087.3(GRN): c.1414-2A> G single nucleotide variant Pathogenic rs1555611412 GRCh38 Chromosome 17, 44352339: 44352339
26 GRN NM_002087.3(GRN): c.1414-2A> G single nucleotide variant Pathogenic rs1555611412 GRCh37 Chromosome 17, 42429707: 42429707
27 GRN NM_002087.3(GRN): c.933+7delA deletion Likely benign rs762910178 GRCh38 Chromosome 17, 44351467: 44351467
28 GRN NM_002087.3(GRN): c.933+7delA deletion Likely benign rs762910178 GRCh37 Chromosome 17, 42428835: 42428835
29 GRN NM_002087.3(GRN): c.513C> T (p.Cys171=) single nucleotide variant Likely benign rs147974849 GRCh38 Chromosome 17, 44350492: 44350492
30 GRN NM_002087.3(GRN): c.513C> T (p.Cys171=) single nucleotide variant Likely benign rs147974849 GRCh37 Chromosome 17, 42427860: 42427860
31 GRN NM_002087.3(GRN): c.1438C> T (p.His480Tyr) single nucleotide variant Likely pathogenic rs770058074 GRCh37 Chromosome 17, 42429733: 42429733
32 GRN NM_002087.3(GRN): c.1438C> T (p.His480Tyr) single nucleotide variant Likely pathogenic rs770058074 GRCh38 Chromosome 17, 44352365: 44352365
33 GRN NM_002087.3(GRN): c.80dup (p.Val28Cysfs) duplication Pathogenic rs1392550887 GRCh37 Chromosome 17, 42426612: 42426612
34 GRN NM_002087.3(GRN): c.80dup (p.Val28Cysfs) duplication Pathogenic rs1392550887 GRCh38 Chromosome 17, 44349244: 44349244
35 GRN NM_002087.3(GRN): c.139G> A (p.Asp47Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 44349426: 44349426
36 GRN NM_002087.3(GRN): c.139G> A (p.Asp47Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 42426794: 42426794
37 GRN NM_002087.3(GRN): c.808C> T (p.Leu270Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 44351136: 44351136
38 GRN NM_002087.3(GRN): c.808C> T (p.Leu270Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 42428504: 42428504
39 GRN NM_002087.3(GRN): c.991C> T (p.Gln331Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 42428975: 42428975
40 GRN NM_002087.3(GRN): c.991C> T (p.Gln331Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 44351607: 44351607

Expression for Ceroid Lipofuscinosis, Neuronal, 11

Search GEO for disease gene expression data for Ceroid Lipofuscinosis, Neuronal, 11.

Pathways for Ceroid Lipofuscinosis, Neuronal, 11

Pathways related to Ceroid Lipofuscinosis, Neuronal, 11 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.26 CLN3 CLN5 CTSD CTSF CTSL MFSD8
2 11.14 CTSD CTSF CTSL

GO Terms for Ceroid Lipofuscinosis, Neuronal, 11

Cellular components related to Ceroid Lipofuscinosis, Neuronal, 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 9.55 ATP13A2 CLN3 CLN5 DNAJC5 MFSD8
2 membrane raft GO:0045121 9.5 CLN3 CTSD PPT1
3 synaptic vesicle GO:0008021 9.43 CLN3 DNAJC5 PPT1
4 lysosomal lumen GO:0043202 9.35 ATP13A2 CTSD CTSF CTSL PPT1
5 lysosome GO:0005764 9.28 ATP13A2 CLN3 CLN5 CTSD CTSF CTSL

Biological processes related to Ceroid Lipofuscinosis, Neuronal, 11 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.61 CLN3 DNAJC5 PPT1
2 proteolysis involved in cellular protein catabolic process GO:0051603 9.54 CTSF CTSL
3 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.54 CTSD CTSF CTSL
4 collagen catabolic process GO:0030574 9.51 CTSD CTSL
5 visual perception GO:0007601 9.49 CLN6 PPT1
6 negative regulation of proteolysis GO:0045861 9.48 CLN3 CLN8
7 ceramide metabolic process GO:0006672 9.46 CLN3 CLN8
8 lysosome organization GO:0007040 9.46 CLN3 CLN6 MFSD8 PPT1
9 associative learning GO:0008306 9.32 CLN3 PPT1
10 cellular macromolecule catabolic process GO:0044265 9.26 CLN6 PPT1
11 lysosomal lumen acidification GO:0007042 9.26 CLN3 CLN5 CLN6 PPT1
12 adult locomotory behavior GO:0008344 9.25 PPT1
13 neuromuscular process controlling balance GO:0050885 9.22 CLN3
14 cellular protein catabolic process GO:0044257 9.1 PPT1
15 protein catabolic process GO:0030163 9.1 CLN3 CLN5 CLN6 CLN8 CTSD PPT1

Molecular functions related to Ceroid Lipofuscinosis, Neuronal, 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cysteine-type endopeptidase activity GO:0004197 8.8 CTSD CTSF CTSL

Sources for Ceroid Lipofuscinosis, Neuronal, 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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