CLN8
MCID: CRD181
MIFTS: 43
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Ceroid Lipofuscinosis, Neuronal, 8 (CLN8)
Categories:
Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 8:
Characteristics:Orphanet epidemiological data:58
cln8 disease
Inheritance: Autosomal recessive; Age of onset: Childhood; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset age 2 to 7 years most patients lose ambulation 2 years after onset allelic disorder to northern epilepsy HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Mental diseases
ICD10:
32
33
Orphanet: 58
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MedlinePlus Genetics :
43
CLN8 disease is an inherited disorder that varies in severity and primarily affects the nervous system. The condition is generally separated into less-severe and more-severe forms, based on the types of signs and symptoms that develop and life expectancy.The less-severe form of CLN8 disease, sometimes referred to as Northern epilepsy, is characterized by recurrent seizures (epilepsy) and a decline in intellectual function that begins between ages 5 and 10. The seizures in this form may be resistant to treatment and are often the generalized tonic-clonic type, which involve muscle rigidity, convulsions, and loss of consciousness. Some people with this form of CLN8 disease also experience partial seizures, which do not cause a loss of consciousness. The seizures occur approximately one to two times per month until adolescence; by early adulthood the frequency decreases to about four to six times per year. By middle age, seizures become even less frequent. In addition to seizures, affected individuals experience a gradual decline in intellectual function and develop problems with coordination and balance. Vision problems may occur in early to mid-adulthood. Individuals with the less-severe form of CLN8 disease often live into late adulthood.The more-severe form of CLN8 disease typically begins between ages 2 and 7.The seizures in this form involve uncontrollable muscle jerks (myoclonic epilepsy). Individuals with the more-severe form have a more pronounced decline in intellectual function and usually lose the ability to speak. Vision loss is also common. People with this form of CLN8 disease have increasing difficulty walking and coordinating movements (ataxia), eventually becoming immobile. Individuals with the more-severe form of CLN8 disease usually survive only into late childhood or adolescence.CLN8 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which may also be collectively referred to as Batten disease. All these disorders affect the nervous system and typically cause worsening problems with vision, movement, and thinking ability. The different NCLs are distinguished by their genetic cause. Each disease type is given the designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to indicate its subtype.
MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 8, also known as neuronal ceroid lipofuscinosis 8, is related to ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant and ceroid lipofuscinosis, neuronal, 6, and has symptoms including seizures, ataxia and myoclonus. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 8 is CLN8 (CLN8 Transmembrane ER And ERGIC Protein), and among its related pathways/superpathways are Protein processing in endoplasmic reticulum and MHC class II antigen presentation. Affiliated tissues include eye and retina, and related phenotypes are eeg abnormality and ataxia Disease Ontology : 12 A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has material basis in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23. 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 lipopigment patterns observed most often in CLN8 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles (Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730). (600143) (Updated 05-Mar-2021) UniProtKB/Swiss-Prot : 73 Ceroid lipofuscinosis, neuronal, 8: A form of neuronal ceroid lipofuscinosis with onset in childhood. 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 8 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. |
Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 8:31 (show all 11)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:600143 (Updated 05-Mar-2021)UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 8:seizures, ataxia, myoclonus, restlessness, clumsiness |
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MalaCards organs/tissues related to Ceroid Lipofuscinosis, Neuronal, 8:40
Eye,
Retina
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Articles related to Ceroid Lipofuscinosis, Neuronal, 8:(show all 19)
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ClinVar genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 8:6 (show top 50) (show all 74)
UniProtKB/Swiss-Prot genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 8:73 (show all 15)
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Cellular components related to Ceroid Lipofuscinosis, Neuronal, 8 according to GeneCards Suite gene sharing:
Biological processes related to Ceroid Lipofuscinosis, Neuronal, 8 according to GeneCards Suite gene sharing:
Molecular functions related to Ceroid Lipofuscinosis, Neuronal, 8 according to GeneCards Suite gene sharing:
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