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CLN7
MCID: CRD179
MIFTS: 47
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Ceroid Lipofuscinosis, Neuronal, 7 (CLN7)
Categories:
Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 7:
Characteristics:Orphanet epidemiological data:58
cln7 disease
Inheritance: Autosomal recessive; Age of onset: Childhood; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
rapidly progressive disorder onset in childhood (ages 1.5 to 7 years) some patients show normal development until onset of disorder patients often become wheelchair-bound intracellular accumulation of material can occur in neuronal and nonneuronal cells intracellular accumulation of material may not always be apparent HPO:31
ceroid lipofuscinosis, neuronal, 7:
Inheritance autosomal recessive inheritance Onset and clinical course juvenile onset rapidly progressive Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases Mental diseases
ICD10:
32
33
Orphanet: 58
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism External Ids:
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Genetics Home Reference :
25
CLN7 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between ages 2 and 7. The initial features usually include recurrent seizures (epilepsy) and the loss of previously acquired skills (developmental regression). Affected children also develop muscle twitches (myoclonus), difficulty coordinating movements (ataxia), speech impairment, and vision loss. Mental functioning and motor skills (such as sitting and walking) decline with age. Individuals with CLN7 disease typically do not survive past their teens.
CLN7 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, 7, also known as cln7, is related to ceroid lipofuscinosis, neuronal, 6 and neuronal ceroid-lipofuscinoses, and has symptoms including ataxia and myoclonic seizures. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 7 is MFSD8 (Major Facilitator Superfamily Domain Containing 8), and among its related pathways/superpathways is Lysosome. Affiliated tissues include eye and cortex, and related phenotypes are eeg abnormality and sleep disturbance Disease Ontology : 12 A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has material basis in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28. NIH Rare Diseases : 52 Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 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). CLN7-NCL is caused by changes (mutations ) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. OMIM : 56 The neuronal ceroid lipofuscinoses (NCL, or 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 (summary by Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730). (610951) UniProtKB/Swiss-Prot : 73 Ceroid lipofuscinosis, neuronal, 7: A form of neuronal ceroid lipofuscinosis with onset in early 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 7 comprise mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. |
Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 7:31 (show all 15)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:610951UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 7:ataxia, myoclonic seizures GenomeRNAi Phenotypes related to Ceroid Lipofuscinosis, Neuronal, 7 according to GeneCards Suite gene sharing:26 (show all 14)
MGI Mouse Phenotypes related to Ceroid Lipofuscinosis, Neuronal, 7:45
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Interventional clinical trials:
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MalaCards organs/tissues related to Ceroid Lipofuscinosis, Neuronal, 7:40
Eye,
Cortex
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Articles related to Ceroid Lipofuscinosis, Neuronal, 7:(show top 50) (show all 53)
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Genes related to Ceroid Lipofuscinosis, Neuronal, 7 (1 elite genes):(show all 15) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 7:6 (show top 50) (show all 83)
UniProtKB/Swiss-Prot genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 7:73 (show all 15)
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GEO
for disease gene expression data for Ceroid Lipofuscinosis, Neuronal, 7.
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Cellular components related to Ceroid Lipofuscinosis, Neuronal, 7 according to GeneCards Suite gene sharing:
Biological processes related to Ceroid Lipofuscinosis, Neuronal, 7 according to GeneCards Suite gene sharing:(show all 11)
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