{"Name":"Neuronal ceroid lipofuscinosis","DiseaseID__c":"GARD:0010739","id":10739,"encodedName":"neuronal-ceroid-lipofuscinosis","IsDeleted":false,"Disease_Name_Full__c":"Neuronal ceroid lipofuscinosis","Xref_IDs__c":"42012007; C0027877; C61257; DOID:14503; E75.4; MEDGEN:10326; MONDO:0016295; OMIMPS:256730; ORPHA:216","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":7,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016295","Disease_Description__c":"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.","GARD_Name__c":"Neuronal ceroid lipofuscinosis","GARD_Synonym__c":"cerebromacular degeneration; cerebromacular dystrophy; ceroid lipofuscinoses; hereditary ceroid lipofuscinosis; ncl; pigmentary retinal lipoid neuronal heredodegeneration","Curated_Disease_Description_Source__c":"GARD:0010739","Curated_Disease_Description__c":"Neuronal ceroid lipofuscinosis (NCL) refers to a group of conditions that affect the nervous system. Signs and symptoms vary widely between the forms but generally include a combination of dementia, vision loss, and epilepsy. All types of NCL also belong to a larger group of diseases known as lysosomal storage disorders.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:216","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016295","ORPHANET_ID__c":"ORPHA:216","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Lipofuscinosis ceroidea neuronal","Spanish_Description_Source__c":"ORPHA:216","Spanish_Description__c":"La lipofuscinosis neuronal ceroidea (LNCs) es un conjunto de enfermedades neurodegenerativas hereditarias que se caracteriza clínicamente por disminución de la capacidad mental, epilepsia y pérdida de visión por degeneración retiniana, e histológicamente por la acumulación intracelular de un material autofluorescente, la lipofuscina ceroidea, en las células neuronales del cerebro y de la retina.","Spanish_Disease_Name__c":"lipofuscinosis ceroidea neuronal","Spanish_GARD_Synonym__c":"enfermedad cln; enfermedad ncl; ncl","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Neuronal ceroid lipofuscinosis (NCL) refers to a group of conditions that affect the nervous system. Signs and symptoms vary widely between the forms but generally include a combination of dementia, vision loss, and epilepsy. All types of NCL also belong to a larger group of diseases known as lysosomal storage disorders.","Curated_Disease_Description_Source__c":"GARD:0010739","GARD_Synonym__c":"cerebromacular degeneration; cerebromacular dystrophy; ceroid lipofuscinoses; hereditary ceroid lipofuscinosis; ncl; pigmentary retinal lipoid neuronal heredodegeneration","Name":"Neuronal ceroid lipofuscinosis","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Children's Brain Disease Foundation","Website__c":"https://childrensbraindiseasesfoundation.org/"},{"Account_Name__c":"Childhood Dementia Initiative","Website__c":"https://www.childhooddementia.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"BDSRA Foundation","Website__c":"https://bdsrafoundation.org/"},{"Account_Name__c":"Beyond Batten Disease Foundation","Website__c":"https://beyondbatten.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Psychiatry","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Lysosomal","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Lysosomal storage diseases are a group of genetic metabolic diseases that affect the ability of the body's cells to break down substances and remove toxins.","curated_tag_name":"Lysosomal storage diseases"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:216"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0027877"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=10326","Source__c":"C0027877","Xref__c":"MEDGEN:10326"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14503","Source__c":"MONDO:0016295","Xref__c":"DOID:14503"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=42012007","Source__c":"C0027877; MONDO:0016295","Xref__c":"42012007"},{"URL__c":"https://www.orpha.net/en/disease/detail/216","Source__c":"C0027877; MONDO:0016295; ORPHA:216","Xref__c":"ORPHA:216"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0027877","Source__c":"C0027877","Xref__c":"C0027877"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C61257","Source__c":"C0027877; MONDO:0016295","Xref__c":"C61257"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS256730","Source__c":"MONDO:0016295","Xref__c":"OMIMPS:256730"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E75.4","Source__c":"MONDO:0016295","Xref__c":"E75.4"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C009472","Source__c":"C0027877","Xref__c":"D009472"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016295","Source__c":"GARD:0010739","Xref__c":"MONDO:0016295"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1428","Source__c":"Gene Review","Xref__c":"NBK1428"}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Lysosomal"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Lysosomal"],"Specialist":["Genetics","Neurology","Ophthalmology","Psychiatry","Retinal","Epilepsy","Pediatrics"],"Account":["Lysosomal","Retinal","Epilepsy"]},"synonyms":["cerebromacular degeneration"," cerebromacular dystrophy"," ceroid lipofuscinoses"," hereditary ceroid lipofuscinosis"," ncl"," pigmentary retinal lipoid neuronal heredodegeneration"],"spanishId":13607,"spanishName":"lipofuscinosis-neuronal-ceroidea"}