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 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
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 related phenotypes are intellectual disability and optic atrophy

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:

(showing 30, show less)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 6 29.7 MFSD8 CLN6 CLN5
2 neuronal ceroid lipofuscinosis 27.1 TPP1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
3 ceroid lipofuscinosis, neuronal, 5 10.4
4 epilepsy, idiopathic generalized 5 9.7 KCTD7 CLN8
5 adult neuronal ceroid lipofuscinosis 9.6 TPP1 DNAJC5 CLN6
6 aspartylglucosaminuria 9.5 CLN6 CLN3
7 myoclonic epilepsy of lafora 9.3 CLN6 CLN3
8 neuronal ceroid-lipofuscinoses 9.2 CLN8 CLN6 CLN5 CLN3
9 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 9.0 TPP1 DNAJC5 CLN6 CLN3
10 mucopolysaccharidosis, type iiia 9.0 TPP1 DNAJC5 CLN6 CLN3
11 unverricht-lundborg syndrome 9.0 KCTD7 CLN6 CLN5 CLN3
12 mucopolysaccharidosis iii 9.0 TPP1 DNAJC5 CLN6 CLN3
13 lysosomal storage disease 9.0 TPP1 CLN6 CLN5 CLN3
14 mucopolysaccharidosis-plus syndrome 8.9 TPP1 DNAJC5 CLN6 CLN3
15 spinocerebellar ataxia, autosomal recessive 7 8.9 TPP1 MFSD8 KCTD7 CLN8 CLN6
16 epilepsy 8.8 KCTD7 CLN8 CLN6 CLN5 CLN3
17 lipid storage disease 8.8 TPP1 CLN8 CLN6 CLN5 CLN3
18 progressive myoclonus epilepsy 8.7 TPP1 KCTD7 CLN6 CLN5 CLN3
19 dystonia 8.5 KCTD7 DNAJC5 CLN8 CLN6 CLN3
20 ceroid lipofuscinosis, neuronal, 2 8.5 TPP1 DNAJC5 CLN8 CLN6 CLN5 CLN3
21 ceroid storage disease 8.5 TPP1 DNAJC5 CLN8 CLN6 CLN5 CLN3
22 progressive myoclonus epilepsy 3 8.3 TPP1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
23 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 8.1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6 CLN5
24 ceroid lipofuscinosis, neuronal, 1 7.7 TPP1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
25 ceroid lipofuscinosis, neuronal, 13 7.7 TPP1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
26 ceroid lipofuscinosis, neuronal, 11 7.7 TPP1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
27 ceroid lipofuscinosis, neuronal, 7 7.7 TPP1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
28 ceroid lipofuscinosis, neuronal, 10 7.7 TPP1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
29 ceroid lipofuscinosis, neuronal, 3 7.7 TPP1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
30 visual epilepsy 7.7 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 (showing 17, show less)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 optic atrophy 31 HP:0000648
3 ataxia 31 HP:0001251
4 progressive visual loss 31 HP:0000529
5 dysarthria 31 HP:0001260
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 seizure 31 HP:0001250
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 (showing 2, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.5 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:

(showing 9, show less)
# 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
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. 56
15965709 2005
4
CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches. 61
23160995 2012
5
The role of ceroid lipofuscinosis neuronal protein 5 (CLN5) in endosomal sorting. 61
22431521 2012
6
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 61
21990111 2012
7
Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses. 61
21235444 2011
8
CLN3p impacts galactosylceramide transport, raft morphology, and lipid content. 61
18317235 2008
9
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:

(showing 1, show less)
# Super pathways Score Top Affiliating Genes
1 11.03 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:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.56 KCTD7 CLN6 CLN5 CLN3
2 membrane raft GO:0045121 9.33 TPP1 CLN6 CLN3
3 melanosome GO:0042470 9.32 TPP1 DNAJC5
4 lysosome GO:0005764 9.26 TPP1 MFSD8 CLN5 CLN3
5 lysosomal membrane GO:0005765 8.92 MFSD8 DNAJC5 CLN5 CLN3

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

(showing 7, show less)
# Name GO ID Score Top Affiliating Genes
1 cholesterol metabolic process GO:0008203 9.4 CLN8 CLN6
2 neuromuscular process controlling balance GO:0050885 9.37 TPP1 CLN3
3 lysosomal lumen acidification GO:0007042 9.33 CLN6 CLN5 CLN3
4 autophagosome maturation GO:0097352 9.32 MFSD8 CLN3
5 negative regulation of proteolysis GO:0045861 9.26 CLN8 CLN3
6 protein catabolic process GO:0030163 9.26 TPP1 CLN8 CLN6 CLN5
7 lysosome organization GO:0007040 9.02 TPP1 MFSD8 CLN6 CLN5 CLN3

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

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 lysophosphatidic acid binding GO:0035727 8.96 TPP1 CLN6
2 sulfatide binding GO:0120146 8.8 TPP1 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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