CLN9
MCID: CRD216
MIFTS: 39

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 58 74
Neuronal Ceroid Lipofuscinosis 9 12 54 15
Cln9 58 12
Cln9 Disease 60
Cln 9 54

Characteristics:

Orphanet epidemiological data:

60
cln9 disease
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
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:

33
ceroid lipofuscinosis, neuronal, 9:
Clinical modifier death in childhood
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110733
OMIM 58 609055
ICD10 34 E75.4
ICD10 via Orphanet 35 E75.4
UMLS via Orphanet 75 C1836841
Orphanet 60 ORPHA228357
MedGen 43 C1836841
UMLS 74 C1836841

Summaries for Ceroid Lipofuscinosis, Neuronal, 9

NIH Rare Diseases : 54 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 cone-rod dystrophy and hearing loss 2, 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. The drugs Belinostat and Parathyroid hormone have been mentioned in the context of this disorder. 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 : 58 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 CLN5 CLN6 CLN8 MFSD8
2 cone-rod dystrophy and hearing loss 2 11.1
3 ceroid lipofuscinosis, neuronal, 5 10.2
4 visual cortex disease 9.9 CLN8 MFSD8
5 ceroid lipofuscinosis, neuronal, 13 9.9 CLN5 CLN8
6 visual pathway disease 9.9 CLN8 MFSD8
7 ceroid lipofuscinosis, neuronal, 3 9.7 CLN5 CLN6
8 visual epilepsy 9.7 CLN8 MFSD8
9 ceroid lipofuscinosis, neuronal, 10 9.6 CLN5 CLN6 CLN8
10 ceroid storage disease 9.6 CLN5 CLN6 CLN8
11 lipid storage disease 9.6 CLN5 CLN6 CLN8
12 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 9.4 CLN5 CLN6 CLN8 MFSD8
13 ceroid lipofuscinosis, neuronal, 7 9.4 CLN5 CLN6 CLN8 MFSD8
14 ceroid lipofuscinosis, neuronal, 1 9.4 CLN5 CLN6 CLN8 MFSD8
15 ceroid lipofuscinosis, neuronal, 11 9.4 CLN5 CLN6 CLN8 MFSD8
16 ceroid lipofuscinosis, neuronal, 2 9.4 CLN5 CLN6 CLN8 MFSD8
17 neuronal ceroid-lipofuscinoses 9.4 CLN5 CLN6 CLN8 MFSD8

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:

33 (show all 17)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 seizures 33 HP:0001250
3 ataxia 33 HP:0001251
4 dysarthria 33 HP:0001260
5 optic atrophy 33 HP:0000648
6 progressive visual loss 33 HP:0000529
7 rigidity 33 HP:0002063
8 rod-cone dystrophy 33 HP:0000510
9 scanning speech 33 HP:0002168
10 cerebral atrophy 33 HP:0002059
11 psychomotor deterioration 33 HP:0002361
12 mutism 33 HP:0002300
13 vacuolated lymphocytes 33 HP:0001922
14 progressive inability to walk 33 HP:0002505
15 curvilinear intracellular accumulation of autofluorescent lipopigment storage material 33 HP:0003205
16 fingerprint intracellular accumulation of autofluorescent lipopigment storage material 33 HP:0003208
17 decreased light- and dark-adapted electroretinogram amplitude 33 HP:0000654

Symptoms via clinical synopsis from OMIM:

58
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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.55 CERS1 CLN5 CLN6 CLN8 MFSD8
2 pigmentation MP:0001186 9.13 CERS1 CLN8 MFSD8
3 vision/eye MP:0005391 8.92 CLN5 CLN6 CLN8 MFSD8

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 9

Drugs for Ceroid Lipofuscinosis, Neuronal, 9 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Belinostat Approved, Investigational Phase 1 866323-14-0
2
Parathyroid hormone Approved, Investigational Phase 1 9002-64-6
3 Histone Deacetylase Inhibitors Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Oral PXD101 in Patients With Advanced Solid Tumors or Lymphoma Completed NCT00413075 Phase 1 oral belinostat

Search 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:

42
Eye, Cortex

Publications for Ceroid Lipofuscinosis, Neuronal, 9

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 10.71 CLN5 MFSD8

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 CERS1 CLN6 CLN8
2 endoplasmic reticulum GO:0005783 8.92 CERS1 CLN5 CLN6 CLN8

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 9.37 CLN6 CLN8
2 ceramide biosynthetic process GO:0046513 9.32 CERS1 CLN8
3 lysosomal lumen acidification GO:0007042 9.26 CLN5 CLN6
4 protein catabolic process GO:0030163 9.13 CLN5 CLN6 CLN8
5 visual perception GO:0007601 9.1 CLN6
6 cellular macromolecule catabolic process GO:0044265 8.85 CLN6
7 lysosome organization GO:0007040 8.62 CLN6 MFSD8

Sources for Ceroid Lipofuscinosis, Neuronal, 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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