Ceroid Lipofuscinosis Neuronal 2 (CLN2) malady
Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories
NIH Rare Diseases:42 Ceroid lipofuscinosis, neuronalÂ 2 (cln2)Â / late infantile neuronal ceroid lipofuscinosis (lincl)Â / jansky-bielschowsky / late infantile cln2/tpp1 disorder is part of a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses (ncls). the ncls are characterized by an abnormal accumulation of lipopigments, which are substancesÂ made upÂ of fats and proteins within the brainâ€™s nerve cells, eyes, skin, muscle, and other tissues throughout the body.Â cln2 causes nerve cells, found in the brain, retina, and central nervous system, to die.Â symptoms typically begin between ages 2 and 4. early signsÂ may includeÂ loss of muscle coordination (ataxia) and seizures that do not respond to drugs. this form progresses rapidly and ends in death between ages 8 and 12. the condition is caused by mutations in the cln 2 gene which lead to deficient activity of the tpp1 enzyme.Â last updated: 7/15/2009
MalaCards based summary: Ceroid Lipofuscinosis Neuronal 2, also known as ceroid lipofuscinosis, neuronal, 2, is related to northern epilepsy and late-infantile neuronal ceroid lipofuscinosis, and has symptoms including retinopathy, abnormal electroretinogram and abnormality of vision evoked potentials. An important gene associated with Ceroid Lipofuscinosis Neuronal 2 is TPP1 (tripeptidyl peptidase I), and among its related pathways is Lysosome. Affiliated tissues include eye, brain and retina.
Genetics Home Reference:22 Late-infantile neuronal ceroid lipofuscinosis (NCL) is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin in late infancy or early childhood. The initial features usually include recurrent seizures (epilepsy) and difficulty coordinating movements (ataxia). Affected children also develop muscle twitches (myoclonus) and vision impairment. Late-infantile NCL affects motor skills, such as sitting and walking, and speech development. This condition also causes the loss of previously acquired skills (developmental regression), progressive intellectual disability, and behavioral problems. Individuals with this condition often require the use of a wheelchair by late childhood and typically do not survive past their teens.
OMIM:46 The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative... (204500) more...
Descriptions from OMIM:46 256730, 256731, 600143, 601780, 610127 610951 more
Ceroid Lipofuscinosis Neuronal 2, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases
Characteristics (Orphanet epidemiological data):48
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: Child / adolescent
Inheritance: Autosomal recessive; Age of onset: Childhood
Symptoms by clinical synopsis from OMIM:204500
Clinical features from OMIM:204500,256730,256731,600143,601780,610127,610951
Symptoms:48 (show all 12)
HPO human phenotypes related to Ceroid Lipofuscinosis Neuronal 2:(show all 24)
MalaCards organs/tissues related to Ceroid Lipofuscinosis Neuronal 2:32
Eye, Brain, Retina, Skin
UniProtKB/Swiss-Prot genetic disease variations for Ceroid Lipofuscinosis Neuronal 2:63 (show all 35)
Clinvar genetic disease variations for Ceroid Lipofuscinosis Neuronal 2:7 (show all 73)
Search GEO for disease gene expression data for Ceroid Lipofuscinosis Neuronal 2.
Cellular components related to Ceroid Lipofuscinosis Neuronal 2 according to GeneCards/GeneDecks:
Biological processes related to Ceroid Lipofuscinosis Neuronal 2 according to GeneCards/GeneDecks:
27ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet