{"Name":"Neurodegeneration with brain iron accumulation","DiseaseID__c":"GARD:0011899","id":11899,"encodedName":"neurodegeneration-with-brain-iron-accumulation","IsDeleted":false,"Disease_Name_Full__c":"Neurodegeneration with brain iron accumulation","Xref_IDs__c":"C2931845; C538421; DOID:0110734; MEDGEN:444156; MONDO:0018307; OMIMPS:234200; ORPHA:385","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":4,"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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0018307","Disease_Description__c":"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system.","GARD_Name__c":"Neurodegeneration with brain iron accumulation","GARD_Synonym__c":"nbia","Curated_Disease_Description_Source__c":"GARD:0011899","Curated_Disease_Description__c":"Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurologic disorders in which iron accumulates in the basal ganglia. Symptoms include progressive dystonia (a movement disorder resulting in muscular spasms, twisting, and repetitive movements) spasticity, parkinsonism (slurred or slow speech, stiffness of the muscles, slow movement, and visible tremors), inability to coordinate movements (ataxia), neuropsychiatric abnormalities (confusion, disorientation, seizures, stupor, dementia), and eye problems, such as optic atrophy or retinal degeneration. Cerebellar atrophy is common in many cases. There are ten recognized types of NBIA, classified according to the altered gene that causes the disease. These genes include PANK2, PLA2G6, C19orf12, FA2H, ATP13A2, WDR45, COASY, FTL, CP and DCAF17. Eight of the ten types of NBIA are inherited in an autosomal recessive manner. The type known as beta-propeller protein-associated neurodegeneration (BPAN), caused by genetic changes in the WDR45 gene, is inherited in an X-linked dominant manner. The neuroferritinopathy, caused by genetic changes in the FTL gene, is inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:385","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018307","ORPHANET_ID__c":"ORPHA:385","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neurodegeneración con acúmulo cerebral de hierro","Spanish_Description_Source__c":"ORPHA:385","Spanish_Description__c":"La neurodegeneración con acúmulo cerebral de hierro (NACH); anteriormente conocida como síndrome o enfermedad de Hallervorden-Spatz) abarca un grupo de trastornos neurodegenerativos poco frecuentes caracterizados por disfunción extrapiramidal progresiva (distonía, rigidez, coreoatetosis), acúmulo de hierro en el cerebro y presencia de esferoides axonales, por lo general limitada al sistema nervioso central.","Spanish_Disease_Name__c":"neurodegeneración con acúmulo cerebral de hierro","Spanish_GARD_Synonym__c":"nach; nbia","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":"Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurologic disorders in which iron accumulates in the basal ganglia. Symptoms include progressive dystonia (a movement disorder resulting in muscular spasms, twisting, and repetitive movements) spasticity, parkinsonism (slurred or slow speech, stiffness of the muscles, slow movement, and visible tremors), inability to coordinate movements (ataxia), neuropsychiatric abnormalities (confusion, disorientation, seizures, stupor, dementia), and eye problems, such as optic atrophy or retinal degeneration. Cerebellar atrophy is common in many cases. There are ten recognized types of NBIA, classified according to the altered gene that causes the disease. These genes include PANK2, PLA2G6, C19orf12, FA2H, ATP13A2, WDR45, COASY, FTL, CP and DCAF17. Eight of the ten types of NBIA are inherited in an autosomal recessive manner. The type known as beta-propeller protein-associated neurodegeneration (BPAN), caused by genetic changes in the WDR45 gene, is inherited in an X-linked dominant manner. The neuroferritinopathy, caused by genetic changes in the FTL gene, is inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0011899","GARD_Synonym__c":"nbia","Name":"Neurodegeneration with brain iron accumulation","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"NBIAcure","Website__c":"https://nbiacure.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":"NBIA Disorders Association","Website__c":"https://www.nbiadisorders.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":"Psychiatry","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:385"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:385"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:385"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:385"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110734","Source__c":"MONDO:0018307","Xref__c":"DOID:0110734"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=444156","Source__c":"C2931845","Xref__c":"MEDGEN:444156"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931845","Source__c":"C2931845","Xref__c":"C2931845"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS234200","Source__c":"MONDO:0018307","Xref__c":"OMIMPS:234200"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538421","Source__c":"MONDO:0018307","Xref__c":"C538421"},{"URL__c":"https://www.orpha.net/en/disease/detail/385","Source__c":"C2931845; MONDO:0018307; ORPHA:385","Xref__c":"ORPHA:385"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018307","Source__c":"GARD:0011899","Xref__c":"MONDO:0018307"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK121988","Source__c":"Gene Review","Xref__c":"NBK121988"}],"Inheritance__c":["Autosomal dominant","X-linked dominant","Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Psychiatry","Pediatrics"]},"synonyms":["nbia"],"spanishId":13203,"spanishName":"neurodegeneracion-con-acumulacion-cerebral-de-hierro"}