CLN9
MCID: CRD216
MIFTS: 36

Ceroid Lipofuscinosis, Neuronal, 9 (CLN9)

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

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 9

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 9:

Name: Ceroid Lipofuscinosis, Neuronal, 9 56 71
Neuronal Ceroid Lipofuscinosis 9 12 52 15
Cln9 56 12
Cln9 Disease 58
Cln 9 52

Characteristics:

Orphanet epidemiological data:

58
cln9 disease
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
early death
one family has been reported (last curated march 2016)
onset at 4 years of age
similar phenotype to juvenile neuronal ceroid lipofuscinosis 3 (cln3, )


HPO:

31
ceroid lipofuscinosis, neuronal, 9:
Inheritance autosomal recessive inheritance
Clinical modifier death in childhood


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0110733
OMIM 56 609055
OMIM Phenotypic Series 56 PS256730
ICD10 32 E75.4
ICD10 via Orphanet 33 E75.4
UMLS via Orphanet 72 C1836841
Orphanet 58 ORPHA228357
MedGen 41 C1836841
UMLS 71 C1836841

Summaries for Ceroid Lipofuscinosis, Neuronal, 9

NIH Rare Diseases : 52 Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia ), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCL is unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.

MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 9, also known as neuronal ceroid lipofuscinosis 9, is related to ceroid lipofuscinosis, neuronal, 6 and neuronal ceroid lipofuscinosis, and has symptoms including seizures, ataxia and scanning speech. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 9 is CLN9 (Ceroid-Lipofuscinosis, Neuronal 9), and among its related pathways/superpathways is Lysosome. Affiliated tissues include eye and cortex, and related phenotypes are intellectual disability and seizures

Disease Ontology : 12 A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive vision loss, progressive ataxia and seziures.

OMIM : 56 The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (256730). (609055)

Related Diseases for Ceroid Lipofuscinosis, Neuronal, 9

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

(show all 28)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 6 29.6 MFSD8 CLN6 CLN5
2 neuronal ceroid lipofuscinosis 28.2 TPP1 MFSD8 KCTD7 DNAJC5 CLN9 CLN8
3 ceroid lipofuscinosis, neuronal, 5 10.3
4 ceroid lipofuscinosis, neuronal, 8 10.2
5 cerebral atrophy 9.7 CLN6 CLN3
6 gm1 gangliosidosis 9.6 CLN6 CLN3
7 unverricht-lundborg syndrome 9.6 CLN6 CLN5 CLN3
8 neuronal ceroid-lipofuscinoses 9.5 CLN8 CLN6 CLN5 CLN3
9 visual cortex disease 9.4 MFSD8 CLN8 CLN6 CLN5
10 visual pathway disease 9.4 MFSD8 CLN8 CLN6 CLN5
11 adult neuronal ceroid lipofuscinosis 9.3 TPP1 DNAJC5 CLN6
12 epilepsy 9.3 KCTD7 CLN8 CLN6 CLN5 CLN3
13 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 9.0 TPP1 DNAJC5 CLN6 CLN3
14 progressive myoclonus epilepsy 8.8 TPP1 KCTD7 CLN6 CLN5 CLN3
15 lipid storage disease 8.8 TPP1 CLN8 CLN6 CLN5 CLN3
16 spinocerebellar ataxia, autosomal recessive 7 8.8 TPP1 MFSD8 KCTD7 CLN8 CLN6
17 ceroid lipofuscinosis, neuronal, 2 8.6 TPP1 DNAJC5 CLN8 CLN6 CLN5 CLN3
18 ceroid storage disease 8.5 TPP1 DNAJC5 CLN8 CLN6 CLN5 CLN3
19 lysosomal storage disease 8.5 TPP1 CLN8 CLN6 CLN5 CLN3 CLCN6
20 ceroid lipofuscinosis, neuronal, 11 8.5 MFSD8 KCTD7 DNAJC5 CLN8 CLN6 CLN5
21 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 8.4 MFSD8 KCTD7 DNAJC5 CLN8 CLN6 CLN5
22 mucopolysaccharidosis iii 8.3 TPP1 KCTD7 DNAJC5 CLN8 CLN6 CLN5
23 ceroid lipofuscinosis, neuronal, 3 7.8 TPP1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
24 visual epilepsy 7.8 TPP1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
25 ceroid lipofuscinosis, neuronal, 1 7.4 TPP1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
26 ceroid lipofuscinosis, neuronal, 13 7.4 TPP1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
27 ceroid lipofuscinosis, neuronal, 7 7.4 TPP1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
28 ceroid lipofuscinosis, neuronal, 10 7.4 TPP1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6

Graphical network of the top 20 diseases related to Ceroid Lipofuscinosis, Neuronal, 9:



Diseases related to Ceroid Lipofuscinosis, Neuronal, 9

Symptoms & Phenotypes for Ceroid Lipofuscinosis, Neuronal, 9

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 9:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 seizures 31 HP:0001250
3 ataxia 31 HP:0001251
4 dysarthria 31 HP:0001260
5 rod-cone dystrophy 31 HP:0000510
6 optic atrophy 31 HP:0000648
7 progressive visual loss 31 HP:0000529
8 rigidity 31 HP:0002063
9 scanning speech 31 HP:0002168
10 cerebral atrophy 31 HP:0002059
11 psychomotor deterioration 31 HP:0002361
12 progressive inability to walk 31 HP:0002505
13 mutism 31 HP:0002300
14 vacuolated lymphocytes 31 HP:0001922
15 curvilinear intracellular accumulation of autofluorescent lipopigment storage material 31 HP:0003205
16 fingerprint intracellular accumulation of autofluorescent lipopigment storage material 31 HP:0003208
17 decreased light- and dark-adapted electroretinogram amplitude 31 HP:0000654

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
ataxia
dysarthria
rigidity
scanning speech
more
Hematology:
vacuolated lymphocytes

Head And Neck Eyes:
optic atrophy
retinitis pigmentosa
vision loss, progressive (4 to 10 years)
decreased electroretinogram (erg)

Laboratory Abnormalities:
'fingerprint profiles' ultrastructurally in cells
'curvilinear profiles' ultrastructurally in cells
fibroblasts are small and rounded with prominent nucleoli
fibroblasts attach poorly
fibroblasts show increased sensitivity to apoptosis
more

Clinical features from OMIM:

609055

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 9:


seizures, ataxia, scanning speech, muscle rigidity

MGI Mouse Phenotypes related to Ceroid Lipofuscinosis, Neuronal, 9:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 CLCN6 CLN3 CLN6 CLN8 DNAJC5 MFSD8
2 nervous system MP:0003631 9.56 CLCN6 CLN3 CLN5 CLN6 CLN8 DNAJC5
3 vision/eye MP:0005391 9.1 CLN3 CLN5 CLN6 CLN8 DNAJC5 MFSD8

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 9

Search Clinical Trials , NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 9

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 9

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 9

MalaCards organs/tissues related to Ceroid Lipofuscinosis, Neuronal, 9:

40
Eye, Cortex

Publications for Ceroid Lipofuscinosis, Neuronal, 9

Articles related to Ceroid Lipofuscinosis, Neuronal, 9:

(show all 11)
# Title Authors PMID Year
1
The CLN9 protein, a regulator of dihydroceramide synthase. 61 56
16303764 2006
2
Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant. 61 56
15349861 2004
3
Neuronal ceroid lipofuscinoses. 6
19084560 2009
4
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. 56
15965709 2005
5
Neuronal Ceroid-Lipofuscinoses 6
20301601 2001
6
CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches. 61
23160995 2012
7
The role of ceroid lipofuscinosis neuronal protein 5 (CLN5) in endosomal sorting. 61
22431521 2012
8
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 61
21990111 2012
9
Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses. 61
21235444 2011
10
CLN3p impacts galactosylceramide transport, raft morphology, and lipid content. 61
18317235 2008
11
Neuronal ceroid lipofuscinosis: a common pathway? 61
17237713 2007

Variations for Ceroid Lipofuscinosis, Neuronal, 9

Expression for Ceroid Lipofuscinosis, Neuronal, 9

Search GEO for disease gene expression data for Ceroid Lipofuscinosis, Neuronal, 9.

Pathways for Ceroid Lipofuscinosis, Neuronal, 9

Pathways related to Ceroid Lipofuscinosis, Neuronal, 9 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.01 TPP1 MFSD8 CLN5 CLN3

GO Terms for Ceroid Lipofuscinosis, Neuronal, 9

Cellular components related to Ceroid Lipofuscinosis, Neuronal, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.55 KCTD7 CLN6 CLN5 CLN3 CLCN6
2 lysosome GO:0005764 9.26 TPP1 MFSD8 CLN5 CLN3
3 lysosomal membrane GO:0005765 9.02 MFSD8 DNAJC5 CLN5 CLN3 CLCN6

Biological processes related to Ceroid Lipofuscinosis, Neuronal, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuromuscular process controlling balance GO:0050885 9.5 TPP1 CLN8 CLN3
2 associative learning GO:0008306 9.4 CLN8 CLN3
3 negative regulation of proteolysis GO:0045861 9.37 CLN8 CLN3
4 lysosomal lumen acidification GO:0007042 9.33 CLN6 CLN5 CLN3
5 cellular macromolecule catabolic process GO:0044265 9.26 CLN8 CLN6
6 protein catabolic process GO:0030163 9.26 TPP1 CLN8 CLN6 CLN5
7 lysosome organization GO:0007040 9.02 TPP1 MFSD8 CLN8 CLN6 CLN3

Sources for Ceroid Lipofuscinosis, Neuronal, 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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