MCID: CRD166
MIFTS: 39

Ceroid Lipofuscinosis, Neuronal, 11

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

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 11

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 11:

Name: Ceroid Lipofuscinosis, Neuronal, 11 57 75 29 13 6 73
Cln11 57 12 75
Neuronal Ceroid Lipofuscinosis 11 12 15
Lipofuscinosis, Ceroid, Neuronal, Type 11 40
Cln11 Disease 59

Characteristics:

Orphanet epidemiological data:

59
cln11 disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
ceroid lipofuscinosis, neuronal, 11:
Onset and clinical course rapidly progressive
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614706
Disease Ontology 12 DOID:0110732
ICD10 33 E75.4
Orphanet 59 ORPHA314629
ICD10 via Orphanet 34 E75.4
MeSH 44 D009472
UMLS 73 C3539123

Summaries for Ceroid Lipofuscinosis, Neuronal, 11

UniProtKB/Swiss-Prot : 75 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 pathway disease and cerebral atrophy, and has symptoms including ataxia, seizures and myoclonic seizures. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 11 is GRN (Granulin Precursor), and among its related pathways/superpathways is Lysosome. The drugs Antibodies and Antibodies, Monoclonal have been mentioned in the context of this disorder. Related phenotypes are visual impairment and retinal dystrophy

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 : 57 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 19)
# Related Disease Score Top Affiliating Genes
1 visual pathway disease 10.0 CLN8 MFSD8
2 cerebral atrophy 10.0 CLN6 CLN8 DNAJC5
3 visual cortex disease 9.9 CLN8 MFSD8
4 progressive myoclonus epilepsy 9.9 CLN6 KCTD7
5 adult neuronal ceroid lipofuscinosis 9.6 CLN6 DNAJC5 PPT1
6 ceroid lipofuscinosis, neuronal, 9 9.5 CLN5 CLN6 CLN8 MFSD8
7 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 9.5 CLN5 CLN6 CLN8 MFSD8
8 ceroid lipofuscinosis, neuronal, 13 9.4 CLN5 CLN8 CTSF DNAJC5 KCTD7
9 inherited metabolic disorder 9.0 CLN3 ENSG00000261832 PPT1
10 ceroid lipofuscinosis, neuronal, 7 8.5 CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1
11 ceroid storage disease 8.4 CLN3 CLN5 CLN6 CLN8 DNAJC5 PPT1
12 ceroid lipofuscinosis, neuronal, 3 8.4 CLN3 CLN5 CTSD PPT1
13 ceroid lipofuscinosis, neuronal, 10 8.2 CLN3 CLN5 CLN6 CLN8 CTSD KCTD7
14 lipid storage disease 8.1 CLN3 CLN5 CLN6 CLN8 ENSG00000261832 PPT1
15 visual epilepsy 7.0 CLN3 CLN5 CLN6 CLN8 DNAJC5 ENSG00000261832
16 ceroid lipofuscinosis, neuronal, 1 6.6 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
17 neuronal ceroid-lipofuscinoses 6.2 CLN3 CLN5 CLN6 CLN8 CTSD CTSF
18 ceroid lipofuscinosis, neuronal, 2 5.6 CLN3 CLN5 CLN6 CLN8 CTSD CTSF
19 neuronal ceroid lipofuscinosis 4.8 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 11:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 retinal dystrophy 32 HP:0000556
3 optic atrophy 32 HP:0000648
4 ataxia 32 HP:0001251
5 mental deterioration 32 occasional (7.5%) HP:0001268
6 cerebellar atrophy 32 HP:0001272
7 generalized myoclonic seizures 32 HP:0002123
8 eeg abnormality 32 HP:0002353

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 11:


ataxia, seizures, myoclonic seizures

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.96 CLN8 CTSD CTSF DNAJC5 GRN MFSD8
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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 1, Phase 2
2 Antibodies, Monoclonal Phase 1, Phase 2
3 Immunoglobulins 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 29 GRN

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 11

Publications for Ceroid Lipofuscinosis, Neuronal, 11

Variations for Ceroid Lipofuscinosis, Neuronal, 11

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

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 GRN NM_002087.3(GRN): c.813_816delCACT (p.Thr272Serfs) deletion Pathogenic rs63749877 GRCh37 Chromosome 17, 42428509: 42428512
2 GRN NM_002087.3(GRN): c.813_816delCACT (p.Thr272Serfs) deletion Pathogenic rs63749877 GRCh38 Chromosome 17, 44351141: 44351144
3 GRN NM_002087.3(GRN): c.264+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs60100877 GRCh37 Chromosome 17, 42426926: 42426926
4 GRN NM_002087.3(GRN): c.264+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs60100877 GRCh38 Chromosome 17, 44349558: 44349558
5 GRN NM_002087.3(GRN): c.835+7G> A single nucleotide variant Benign/Likely benign rs72824736 GRCh38 Chromosome 17, 44351170: 44351170
6 GRN NM_002087.3(GRN): c.835+7G> A single nucleotide variant Benign/Likely benign rs72824736 GRCh37 Chromosome 17, 42428538: 42428538
7 GRN NM_002087.3(GRN): c.1414-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 17, 44352339: 44352339
8 GRN NM_002087.3(GRN): c.1414-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 17, 42429707: 42429707
9 GRN NM_002087.3(GRN): c.933+7delA deletion Likely benign rs762910178 GRCh38 Chromosome 17, 44351467: 44351467
10 GRN NM_002087.3(GRN): c.933+7delA deletion Likely benign rs762910178 GRCh37 Chromosome 17, 42428835: 42428835
11 GRN NM_002087.3(GRN): c.513C> T (p.Cys171=) single nucleotide variant Likely benign rs147974849 GRCh38 Chromosome 17, 44350492: 44350492
12 GRN NM_002087.3(GRN): c.513C> T (p.Cys171=) single nucleotide variant Likely benign rs147974849 GRCh37 Chromosome 17, 42427860: 42427860
13 GRN NM_002087.3(GRN): c.1438C> T (p.His480Tyr) single nucleotide variant Likely pathogenic rs770058074 GRCh37 Chromosome 17, 42429733: 42429733
14 GRN NM_002087.3(GRN): c.1438C> T (p.His480Tyr) single nucleotide variant Likely pathogenic rs770058074 GRCh38 Chromosome 17, 44352365: 44352365
15 GRN NM_002087.3(GRN): c.80dup (p.Val28Cysfs) duplication Pathogenic GRCh37 Chromosome 17, 42426612: 42426612
16 GRN NM_002087.3(GRN): c.80dup (p.Val28Cysfs) duplication Pathogenic GRCh38 Chromosome 17, 44349244: 44349244

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 11.19 CLN3 CLN5 CTSD CTSF MFSD8 PPT1

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 membrane raft GO:0045121 9.5 CLN3 CTSD PPT1
2 lysosomal lumen GO:0043202 9.46 ATP13A2 CTSD CTSF PPT1
3 synaptic vesicle GO:0008021 9.43 CLN3 DNAJC5 PPT1
4 lysosomal membrane GO:0005765 9.43 ATP13A2 CLN3 CLN5 DNAJC5 ENSG00000261832 MFSD8
5 lysosome GO:0005764 9.23 ATP13A2 CLN3 CLN5 CTSD CTSF GRN

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.5 CLN3 DNAJC5 PPT1
2 neurotransmitter secretion GO:0007269 9.46 DNAJC5 PPT1
3 lysosome organization GO:0007040 9.46 CLN3 CLN6 MFSD8 PPT1
4 associative learning GO:0008306 9.43 CLN3 PPT1
5 negative regulation of proteolysis GO:0045861 9.4 CLN3 CLN8
6 ceramide metabolic process GO:0006672 9.37 CLN3 CLN8
7 cellular macromolecule catabolic process GO:0044265 9.26 CLN6 PPT1
8 lysosomal lumen acidification GO:0007042 9.26 CLN3 CLN5 CLN6 PPT1
9 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 8.62 CTSD CTSF

Sources for Ceroid Lipofuscinosis, Neuronal, 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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