Ceroid Lipofuscinosis, Neuronal, 7 malady
Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories
Aliases & Descriptions for Ceroid Lipofuscinosis, Neuronal, 7:
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 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. last updated: 9/2/2015
MalaCards based summary: Ceroid Lipofuscinosis, Neuronal, 7, also known as neuronal ceroid lipofuscinosis 7, is related to neuronitis and neuronal ceroid lipofuscinosis, and has symptoms including autosomal recessive inheritance, retinopathy and visual loss. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 7 is MFSD8 (Major Facilitator Superfamily Domain Containing 8).
OMIM:49 The neuronal ceroid lipofuscinoses (NCL, or CLN) are a clinically and genetically heterogeneous group of... (610951) more...
UniProtKB/Swiss-Prot:67 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.
Diseases in the Neuronal Ceroid Lipofuscinosis family:
Diseases related to Ceroid Lipofuscinosis, Neuronal, 7 via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of diseases related to Ceroid Lipofuscinosis, Neuronal, 7:
HPO human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 7:(show all 18)
UniProtKB/Swiss-Prot genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 7:67 (show all 15)
Clinvar genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 7:5 (show all 12)
Search GEO for disease gene expression data for Ceroid Lipofuscinosis, Neuronal, 7.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet