CLN1
MCID: CRD177
MIFTS: 58
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Ceroid Lipofuscinosis, Neuronal, 1 (CLN1)
Categories:
Endocrine diseases, Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 1:
Characteristics:Inheritance:
Ceroid Lipofuscinosis, Neuronal, 1:
Autosomal recessive 57
Cln1 Disease:
Autosomal recessive 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
variable age at onset variable severity, correlates with age at onset infantile, late-infantile, juvenile, and adult onset have been reported patients with adult onset present with psychiatric features common in populations of finnish descent (incidence of 1:20 000, carrier frequency of 1 in 70) Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases Mental diseases Endocrine diseases
ICD10:
31
32
Orphanet: 58
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MedlinePlus Genetics: 42 CLN1 disease is an inherited disorder that primarily affects the nervous system. Individuals with this condition have normal development in infancy, but typically by 18 months they become increasingly irritable and begin to lose previously acquired skills (developmental regression). In affected children, nerve cells in the brain die over time, leading to an overall loss of brain tissue (brain atrophy) and an unusually small head (microcephaly). Children with CLN1 disease have decreased muscle tone (hypotonia), intellectual and motor disability, and rarely are able to speak or walk. Some affected children develop repetitive hand movements. By age 2, individuals with this condition often have muscle twitches (myoclonus), recurrent seizures (epilepsy), and vision loss. Some affected children develop frequent respiratory infections. As the condition worsens, children have severe feeding difficulties that often require a feeding tube. Children with CLN1 disease usually do not survive past childhood.Some people with CLN1 disease do not develop symptoms until later in childhood or in adulthood. As with younger affected children, older individuals develop a decline in intellectual function, myoclonus, epilepsy, and vision loss. In these individuals, life expectancy depends on when signs and symptoms of CLN1 disease develop and their severity; affected individuals may survive only into adolescence or through adulthood. Adults with CLN1 disease may also have movement disorders, including impaired muscle coordination (ataxia) or a pattern of movement abnormalities known as parkinsonism.CLN1 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, 1, also known as neuronal ceroid lipofuscinosis 1, is related to ceroid lipofuscinosis, neuronal, 3 and ceroid lipofuscinosis, neuronal, 6b, and has symptoms including ataxia, myoclonus and sleep disturbances. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 1 is PPT1 (Palmitoyl-Protein Thioesterase 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Ciliary landscape. The drugs Acetylcysteine and Cysteamine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and t cells, and related phenotypes are intellectual disability and seizure 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 pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). The patterns most often observed in CLN2 and CLN3 are 'curvilinear' and 'fingerprint' profiles, respectively. CLN4, CLN5, CLN6, CLN7, and CLN8 show mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). Zeman and Dyken (1969) referred to these conditions as the 'neuronal ceroid lipofuscinoses.' Goebel (1995) provided a comprehensive review of the NCLs and noted that they are possibly the most common group of neurodegenerative diseases in children. Mole et al. (2005) provided a detailed clinical and genetic review of the neuronal ceroid lipofuscinoses. (256730) (Updated 08-Dec-2022) UniProtKB/Swiss-Prot: 73 A form of neuronal ceroid lipofuscinosis with variable age at onset. Infantile, late-infantile, juvenile, and adult onset have been reported. 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 pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). Disease Ontology: 11 A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has material basis in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34. |
Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 1:30 (show all 27)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:256730 (Updated 08-Dec-2022)UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 1:ataxia; myoclonus; sleep disturbances; seizures; muscle spasticity |
Drugs for Ceroid Lipofuscinosis, Neuronal, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 38)
Interventional clinical trials:(show all 39)
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Organs/tissues related to Ceroid Lipofuscinosis, Neuronal, 1:
MalaCards :
Brain,
Eye,
T Cells,
Bone Marrow,
Liver,
Heart,
Bone
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Articles related to Ceroid Lipofuscinosis, Neuronal, 1:(show top 50) (show all 2544)
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ClinVar genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 1:5 (show top 50) (show all 437)
UniProtKB/Swiss-Prot genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 1:73 (show all 23)
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for disease gene expression data for Ceroid Lipofuscinosis, Neuronal, 1.
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Pathways related to Ceroid Lipofuscinosis, Neuronal, 1 according to GeneCards Suite gene sharing:
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Cellular components related to Ceroid Lipofuscinosis, Neuronal, 1 according to GeneCards Suite gene sharing:
Biological processes related to Ceroid Lipofuscinosis, Neuronal, 1 according to GeneCards Suite gene sharing:
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