MCID: CRD216
MIFTS: 36

Ceroid Lipofuscinosis, Neuronal, 9

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

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 9

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 9:

Name: Ceroid Lipofuscinosis, Neuronal, 9 57 73
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:
Mortality/Aging death in childhood
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 609055
Disease Ontology 12 DOID:0110733
ICD10 33 E75.4
Orphanet 59 ORPHA228357
UMLS via Orphanet 74 C1836841
ICD10 via Orphanet 34 E75.4
MedGen 42 C1836841
UMLS 73 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 cerebral atrophy, and has symptoms including ataxia, muscle rigidity and seizures. 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 Histone Deacetylase Inhibitors have been mentioned in the context of this disorder. 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 15)
# Related Disease Score Top Affiliating Genes
1 neuronal ceroid lipofuscinosis 28.8 CLN5 CLN6 CLN8 CLN9 MFSD8
2 cerebral atrophy 9.9 CLN6 CLN8
3 ceroid lipofuscinosis, neuronal, 13 9.7 CLN5 CLN8
4 visual pathway disease 9.7 CLN8 MFSD8
5 visual cortex disease 9.4 CLN8 MFSD8
6 ceroid storage disease 9.3 CLN5 CLN6 CLN8
7 ceroid lipofuscinosis, neuronal, 10 9.2 CLN5 CLN6 CLN8
8 lipid storage disease 9.2 CLN5 CLN6 CLN8
9 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 8.8 CLN5 CLN6 CLN8 MFSD8
10 ceroid lipofuscinosis, neuronal, 7 8.8 CLN5 CLN6 CLN8 MFSD8
11 visual epilepsy 8.8 CLN5 CLN6 CLN8 MFSD8
12 ceroid lipofuscinosis, neuronal, 11 8.7 CLN5 CLN6 CLN8 MFSD8
13 ceroid lipofuscinosis, neuronal, 1 8.7 CLN5 CLN6 CLN8 MFSD8
14 ceroid lipofuscinosis, neuronal, 2 8.7 CLN5 CLN6 CLN8 MFSD8
15 neuronal ceroid-lipofuscinoses 8.7 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

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

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

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 9:


ataxia, muscle rigidity, seizures, scanning speech

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

46
# 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 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

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 9.32 CLN6 CLN8
2 lysosome organization GO:0007040 9.26 CLN6 MFSD8
3 ceramide biosynthetic process GO:0046513 9.16 CERS1 CLN8
4 lysosomal lumen acidification GO:0007042 8.96 CLN5 CLN6
5 protein catabolic process GO:0030163 8.8 CLN5 CLN6 CLN8

Sources for Ceroid Lipofuscinosis, Neuronal, 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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