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CLN9
MCID: CRD216
MIFTS: 35
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Ceroid Lipofuscinosis, Neuronal, 9 (CLN9)
Categories:
Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 9:
Name: Ceroid Lipofuscinosis, Neuronal, 9
57
71
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:
MalaCards categories:
Global: Rare diseases Metabolic diseases Genetic diseases Anatomical: Neuronal diseases Eye diseases Mental diseases
ICD10:
32
33
Orphanet: 58
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism |
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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) |
Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 9:31 (show all 17)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:609055 (Updated 05-Mar-2021)UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 9:seizures, ataxia, scanning speech, muscle rigidity |
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MalaCards organs/tissues related to Ceroid Lipofuscinosis, Neuronal, 9:40
Eye
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Articles related to Ceroid Lipofuscinosis, Neuronal, 9:
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Genes related to Ceroid Lipofuscinosis, Neuronal, 9 (0 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Ceroid Lipofuscinosis, Neuronal, 9.
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Cellular components related to Ceroid Lipofuscinosis, Neuronal, 9 according to GeneCards Suite gene sharing:
Biological processes related to Ceroid Lipofuscinosis, Neuronal, 9 according to GeneCards Suite gene sharing:
Molecular functions related to Ceroid Lipofuscinosis, Neuronal, 9 according to GeneCards Suite gene sharing:
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