Neuronal Ceroid-Lipofuscinoses malady
Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases
Aliases & Descriptions for Neuronal Ceroid-Lipofuscinoses:
Orphanet epidemiological data:52
infantile neuronal ceroid lipofuscinosis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe),<1/1000000 (Sweden),1-9/1000000 (Sweden),1-9/1000000 (Finland),1-9/100000 (Finland),<1/1000000 (Norway); Age of onset: Infancy,Neonatal; Age of death: late childhood
Global: Genetic diseases, Metabolic diseases, Rare diseases
Anatomical: Neuronal diseases
Genetics Home Reference:24 Infantile neuronal ceroid lipofuscinosis (NCL) is an inherited disorder that primarily affects the nervous system. Beginning in infancy, children with this condition have intellectual and motor disability, rarely developing the ability to speak or walk. Affected children often have muscle twitches (myoclonus), recurrent seizures (epilepsy), or vision impairment. An unusually small head (microcephaly) and progressive loss of nerve cells in the brain are also characteristic features of this disorder. Children with infantile NCL usually do not survive past childhood.
MalaCards based summary: Neuronal Ceroid-Lipofuscinoses, also known as infantile neuronal ceroid lipofuscinosis, is related to late-infantile neuronal ceroid lipofuscinosis and juvenile batten disease, and has symptoms including microcephaly, visual impairment and abnormal electroretinogram. An important gene associated with Neuronal Ceroid-Lipofuscinoses is TPP1 (Tripeptidyl Peptidase 1), and among its related pathways is Lysosome. Affiliated tissues include brain, retina and testes, and related mouse phenotypes are vision/eye and nervous system.
GeneReviews summary for NBK1428
Symptoms:52 (show all 18)
HPO human phenotypes related to Neuronal Ceroid-Lipofuscinoses:(show all 13)
UMLS symptoms related to Neuronal Ceroid-Lipofuscinoses:myoclonus, seizures, extrapyramidal sign, ataxia, muscle spasticity, sleep disturbances
Drugs for Neuronal Ceroid-Lipofuscinoses (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 12)
Interventional clinical trials:(show all 21)
Search NIH Clinical Center for Neuronal Ceroid-Lipofuscinoses
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Neuronal Ceroid-Lipofuscinoses cell therapies at LifeMap Discovery.
MalaCards organs/tissues related to Neuronal Ceroid-Lipofuscinoses:34
Brain, Retina, Testes, Skin
Articles related to Neuronal Ceroid-Lipofuscinoses:(show top 50) (show all 195)
Search GEO for disease gene expression data for Neuronal Ceroid-Lipofuscinoses.
Cellular components related to Neuronal Ceroid-Lipofuscinoses according to GeneCards Suite gene sharing:
Biological processes related to Neuronal Ceroid-Lipofuscinoses according to GeneCards Suite gene sharing:(show all 9)
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet