Ceroid Lipofuscinosis, Neuronal, 2 malady
Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories
Aliases & Descriptions for Ceroid Lipofuscinosis, Neuronal, 2:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases
Characteristics (Orphanet epidemiological data):51
Inheritance: Autosomal recessive; Age of onset: Childhood
NIH Rare Diseases:45 Neuronal ceroid lipofuscinosis 2 (cln2-ncl) is a rare condition that affects the nervous system. signs and symptoms of the condition generally develop between ages two and four 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, developmental delay, and intellectual disability. cln2-ncl is caused by changes (mutations) in the tpp1 gene and is inherited in an autosomal recessive manner. treatment options are limited to therapies that can help relieve some of the symptoms. last updated: 8/31/2015
MalaCards based summary: Ceroid Lipofuscinosis, Neuronal, 2, also known as neuronal ceroid lipofuscinosis 2, is related to nutritional deficiency disease and ceroid lipofuscinosis, neuronal, 10, and has symptoms including autosomal recessive inheritance, progressive visual loss and retinal degeneration. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 2 is TPP1 (Tripeptidyl Peptidase I).
OMIM:49 The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative... (204500) more...
UniProtKB/Swiss-Prot:67 Ceroid lipofuscinosis, neuronal, 2: 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 pattern seen most often in CLN2 consists of curvilinear profiles.
HPO human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 2:(show all 14)
Drugs for Ceroid Lipofuscinosis, Neuronal, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 16)
Interventional clinical trials:(show all 13)
Search NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 2
UniProtKB/Swiss-Prot genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 2:67 (show all 36)
Clinvar genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 2:5 (show all 14)
Search GEO for disease gene expression data for Ceroid Lipofuscinosis, Neuronal, 2.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet