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CLN5
MCID: CRD184
MIFTS: 44
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Ceroid Lipofuscinosis, Neuronal, 5 (CLN5)
Categories:
Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 5:
Characteristics:Orphanet epidemiological data:60
cln5 disease
Inheritance: Autosomal recessive; Age of onset: Childhood; OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
onset at 4 to 7 years later onset can also occur (up to age 17 years) death at 13 to 30 years one family with late-adult onset and cerebellar ataxia has been reported (last curated february 2015) HPO:33Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases Mental diseases
ICD10:
34
35
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Genetics Home Reference
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26
CLN5 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition can begin anytime between childhood and early adulthood, but they typically appear around age 5. Children with CLN5 disease often have normal development until they experience the first signs of the condition, which are usually problems with movement and a loss of previously acquired motor skills (developmental regression). Other features of the condition include recurrent seizures that involve uncontrollable muscle jerks (myoclonic epilepsy), difficulty coordinating movements (ataxia), vision loss, and a decline in intellectual function. The life expectancy of people with CLN5 disease varies; affected individuals usually survive into adolescence or mid-adulthood.
MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 5, also known as neuronal ceroid lipofuscinosis 5, is related to neuronal ceroid lipofuscinosis and ceroid lipofuscinosis, neuronal, 2, and has symptoms including seizures, ataxia and myoclonus. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 5 is CLN5 (CLN5 Intracellular Trafficking Protein). Affiliated tissues include liver, heart and prostate, and related phenotypes are nystagmus and dysarthria Disease Ontology : 12 A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has material basis in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22. NIH Rare Diseases : 54 Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. 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 lipopigment patterns observed most often in CLN5 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730). (256731) UniProtKB/Swiss-Prot : 76 Ceroid lipofuscinosis, neuronal, 5: A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 5 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. |
Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 5:33 (show all 19)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:256731UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 5:seizures, ataxia, myoclonus, clumsiness |
Interventional clinical trials:
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MalaCards organs/tissues related to Ceroid Lipofuscinosis, Neuronal, 5:42
Liver,
Heart,
Prostate,
Brain,
Lung,
Eye,
Bone
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Articles related to Ceroid Lipofuscinosis, Neuronal, 5:(show top 50) (show all 65)
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Genes related to Ceroid Lipofuscinosis, Neuronal, 5 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 5:76 (show all 12)
ClinVar genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 5:6 (show top 50) (show all 148)
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GEO
for disease gene expression data for Ceroid Lipofuscinosis, Neuronal, 5.
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