CLN9
MCID: CRD216
MIFTS: 35

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 57 71
Neuronal Ceroid Lipofuscinosis 9 12 20 15
Cln9 57 12
Cln9 Disease 58
Cln 9 20

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Mar-2021)
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
Onset and clinical course death in childhood


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0110733
OMIM® 57 609055
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

GARD : 20 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 ceroid lipofuscinosis, neuronal, 3, 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 related phenotypes are intellectual disability and ataxia

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

OMIM® : 57 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) (Updated 05-Mar-2021)

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 37)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 6 29.2 MFSD8 CLN8 CLN6 CLN5
2 ceroid lipofuscinosis, neuronal, 3 27.9 MFSD8 KCTD7 DNAJC5 CLN8 CLN6 CLN5
3 neuronal ceroid lipofuscinosis 27.9 MFSD8 KCTD7 DNAJC5 CLN8 CLN6 CLN5
4 ceroid lipofuscinosis, neuronal, 5 10.1
5 epilepsy, idiopathic generalized 5 10.0 KCTD7 CLN8
6 progressive myoclonus epilepsy 1b 9.9 MFSD8 KCTD7
7 mannosidosis, alpha b, lysosomal 9.9 MFSD8 CLN6
8 electroclinical syndrome 9.9 KCTD7 CLN6
9 adult neuronal ceroid lipofuscinosis 9.9 DNAJC5 CLN6
10 peripheral retinal degeneration 9.8 CLN5 CLN3
11 early myoclonic encephalopathy 9.8 KCTD7 CLN8 CLN6
12 glycoproteinosis 9.8 CLN6 CLN3
13 gm2 gangliosidosis 9.7 CLN6 CLN3
14 myoclonic epilepsy of lafora 9.7 CLN6 CLN3
15 aspartylglucosaminuria 9.6 CLN6 CLN5 CLN3
16 tay-sachs disease 9.6 CLN6 CLN3
17 mucopolysaccharidosis-plus syndrome 9.6 CLN6 CLN5 CLN3
18 lysosomal storage disease 9.6 CLN6 CLN5 CLN3
19 progressive myoclonus epilepsy 3 9.5 MFSD8 KCTD7 CLN8 CLN6
20 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 9.5 DNAJC5 CLN6 CLN3
21 mucopolysaccharidosis, type iiia 9.5 DNAJC5 CLN6 CLN3
22 stargardt disease 1 9.5 MFSD8 CLN3
23 lipid storage disease 9.4 CLN8 CLN6 CLN5 CLN3
24 progressive myoclonus epilepsy 9.4 KCTD7 CLN6 CLN5 CLN3
25 epilepsy 9.2 KCTD7 CLN8 CLN6 CLN5 CLN3
26 unverricht-lundborg syndrome 9.1 MFSD8 KCTD7 CLN6 CLN5 CLN3
27 mucopolysaccharidosis iii 9.0 MFSD8 DNAJC5 CLN6 CLN5 CLN3
28 ceroid lipofuscinosis, neuronal, 2 8.8 MFSD8 DNAJC5 CLN8 CLN6 CLN5 CLN3
29 neuronal ceroid-lipofuscinoses 8.8 MFSD8 DNAJC5 CLN8 CLN6 CLN5 CLN3
30 visual epilepsy 8.6 MFSD8 KCTD7 DNAJC5 CLN8 CLN6 CLN5
31 ceroid lipofuscinosis, neuronal, 1 8.6 MFSD8 KCTD7 DNAJC5 CLN8 CLN6 CLN5
32 ceroid lipofuscinosis, neuronal, 13 8.6 MFSD8 KCTD7 DNAJC5 CLN8 CLN6 CLN5
33 ceroid lipofuscinosis, neuronal, 11 8.5 MFSD8 KCTD7 DNAJC5 CLN8 CLN6 CLN5
34 ceroid lipofuscinosis, neuronal, 7 8.5 MFSD8 KCTD7 DNAJC5 CLN8 CLN6 CLN5
35 ceroid lipofuscinosis, neuronal, 10 8.5 MFSD8 KCTD7 DNAJC5 CLN8 CLN6 CLN5
36 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 8.5 MFSD8 KCTD7 DNAJC5 CLN8 CLN6 CLN5
37 spinocerebellar ataxia, autosomal recessive 7 8.5 MFSD8 KCTD7 DNAJC5 CLN8 CLN6 CLN5

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 9:


seizures, ataxia, scanning speech, muscle rigidity

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.43 CLN3 CLN5 CLN6 CLN8 DNAJC5 MFSD8
2 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

Publications for Ceroid Lipofuscinosis, Neuronal, 9

Articles related to Ceroid Lipofuscinosis, Neuronal, 9:

# Title Authors PMID Year
1
CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches. 57 61
23160995 2012
2
The CLN9 protein, a regulator of dihydroceramide synthase. 61 57
16303764 2006
3
Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant. 57 61
15349861 2004
4
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. 57
15965709 2005
5
Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy. 61
33242182 2021
6
The role of ceroid lipofuscinosis neuronal protein 5 (CLN5) in endosomal sorting. 61
22431521 2012
7
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 61
21990111 2012
8
Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses. 61
21235444 2011
9
CLN3p impacts galactosylceramide transport, raft morphology, and lipid content. 61
18317235 2008
10
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 10.91 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 lysosome GO:0005764 9.13 MFSD8 CLN5 CLN3
2 lysosomal membrane GO:0005765 8.92 MFSD8 DNAJC5 CLN5 CLN3

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

# Name GO ID Score Top Affiliating Genes
1 cholesterol metabolic process GO:0008203 9.46 CLN8 CLN6
2 neuromuscular process controlling balance GO:0050885 9.43 CLN8 CLN3
3 autophagosome maturation GO:0097352 9.4 MFSD8 CLN3
4 associative learning GO:0008306 9.37 CLN8 CLN3
5 protein catabolic process GO:0030163 9.33 CLN8 CLN6 CLN5
6 negative regulation of proteolysis GO:0045861 9.32 CLN8 CLN3
7 cellular macromolecule catabolic process GO:0044265 9.26 CLN8 CLN6
8 lysosomal lumen acidification GO:0007042 9.13 CLN6 CLN5 CLN3
9 lysosome organization GO:0007040 9.02 MFSD8 CLN8 CLN6 CLN5 CLN3

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

# Name GO ID Score Top Affiliating Genes
1 sulfatide binding GO:0120146 8.62 CLN6 CLN3

Sources for Ceroid Lipofuscinosis, Neuronal, 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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