CLN9
MCID: CRD216
MIFTS: 32

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 72
Neuronal Ceroid Lipofuscinosis 9 12 53 15
Cln9 57 12
Cln9 Disease 59
Cln 9 53

Characteristics:

Orphanet epidemiological data:

59
cln9 disease
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
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:

32
ceroid lipofuscinosis, neuronal, 9:
Inheritance autosomal recessive inheritance
Clinical modifier death in childhood


Classifications:



External Ids:

Disease Ontology 12 DOID:0110733
ICD10 33 E75.4
ICD10 via Orphanet 34 E75.4
UMLS via Orphanet 73 C1836841
Orphanet 59 ORPHA228357
MedGen 42 C1836841
UMLS 72 C1836841

Summaries for Ceroid Lipofuscinosis, Neuronal, 9

NIH Rare Diseases : 53 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 neuronal ceroid lipofuscinosis and ceroid lipofuscinosis, neuronal, 5, and has symptoms including seizures, ataxia and scanning speech. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 9 is CLN9 (Ceroid-Lipofuscinosis, Neuronal 9). Affiliated tissues include eye, 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 : 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)

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 17)
# Related Disease Score Top Affiliating Genes
1 neuronal ceroid lipofuscinosis 30.7 DNAJC5 CLN8 CLN6 CLN5
2 ceroid lipofuscinosis, neuronal, 5 10.3
3 ceroid lipofuscinosis, neuronal, 8 10.2
4 ceroid lipofuscinosis, neuronal, 6 10.2
5 cerebral atrophy 9.8 DNAJC5 CLN6
6 adult neuronal ceroid lipofuscinosis 9.7 DNAJC5 CLN6
7 ceroid lipofuscinosis, neuronal, 13 9.4 DNAJC5 CLN8 CLN5
8 ceroid lipofuscinosis, neuronal, 3 9.4 CLN6 CLN5
9 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 9.3 CLN8 CLN6 CLN5
10 lipid storage disease 9.3 CLN8 CLN6 CLN5
11 ceroid lipofuscinosis, neuronal, 7 9.0 DNAJC5 CLN8 CLN6 CLN5
12 ceroid lipofuscinosis, neuronal, 1 9.0 DNAJC5 CLN8 CLN6 CLN5
13 ceroid lipofuscinosis, neuronal, 10 9.0 DNAJC5 CLN8 CLN6 CLN5
14 ceroid storage disease 9.0 DNAJC5 CLN8 CLN6 CLN5
15 ceroid lipofuscinosis, neuronal, 11 9.0 DNAJC5 CLN8 CLN6 CLN5
16 ceroid lipofuscinosis, neuronal, 2 8.9 DNAJC5 CLN8 CLN6 CLN5
17 neuronal ceroid-lipofuscinoses 8.9 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:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 ataxia 32 HP:0001251
4 dysarthria 32 HP:0001260
5 optic atrophy 32 HP:0000648
6 progressive visual loss 32 HP:0000529
7 rigidity 32 HP:0002063
8 rod-cone dystrophy 32 HP:0000510
9 scanning speech 32 HP:0002168
10 cerebral atrophy 32 HP:0002059
11 psychomotor deterioration 32 HP:0002361
12 mutism 32 HP:0002300
13 vacuolated lymphocytes 32 HP:0001922
14 progressive inability to walk 32 HP:0002505
15 curvilinear intracellular accumulation of autofluorescent lipopigment storage material 32 HP:0003205
16 fingerprint intracellular accumulation of autofluorescent lipopigment storage material 32 HP:0003208
17 decreased light- and dark-adapted electroretinogram amplitude 32 HP:0000654

Symptoms via clinical synopsis from OMIM:

57
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.35 CERS1 CLN5 CLN6 CLN8 DNAJC5
2 vision/eye MP:0005391 8.92 CLN5 CLN6 CLN8 DNAJC5

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:

41
Eye

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. 38 8
16303764 2006
2
Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant. 38 8
15349861 2004
3
Neuronal ceroid lipofuscinoses. 71
19084560 2009
4
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. 8
15965709 2005
5
Neuronal Ceroid-Lipofuscinoses 71
20301601 2001
6
CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches. 38
23160995 2012
7
The role of ceroid lipofuscinosis neuronal protein 5 (CLN5) in endosomal sorting. 38
22431521 2012
8
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 38
21990111 2012
9
Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses. 38
21235444 2011
10
CLN3p impacts galactosylceramide transport, raft morphology, and lipid content. 38
18317235 2008
11
Neuronal ceroid lipofuscinosis: a common pathway? 38
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

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 endoplasmic reticulum membrane GO:0005789 9.13 CLN8 CLN6 CERS1
2 endoplasmic reticulum GO:0005783 8.92 CLN8 CLN6 CLN5 CERS1

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.4 CLN8 CLN6
2 cholesterol metabolic process GO:0008203 9.37 CLN8 CLN6
3 lysosome organization GO:0007040 9.32 CLN8 CLN6
4 ceramide biosynthetic process GO:0046513 9.26 CLN8 CERS1
5 lysosomal lumen acidification GO:0007042 9.16 CLN6 CLN5
6 cellular macromolecule catabolic process GO:0044265 8.96 CLN8 CLN6
7 protein catabolic process GO:0030163 8.8 CLN8 CLN6 CLN5

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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