{"Name":"Neuroacanthocytosis","DiseaseID__c":"GARD:0010902","id":10902,"encodedName":"neuroacanthocytosis","IsDeleted":false,"Disease_Name_Full__c":"Neuroacanthocytosis","Xref_IDs__c":"C84926; CN294033; D054546; DOID:0050765; MEDGEN:976451; MONDO:0016987; ORPHA:263440","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0016987","Disease_Description__c":"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia.","GARD_Name__c":"Neuroacanthocytosis","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"GARD:0010902","Curated_Disease_Description__c":"Neuroacanthocytosis (NA) refers to a group of genetic disorders that are characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. The onset, severity and specific physical findings vary depending upon the specific type of NA present. Symptoms usually include chorea (involuntary, dance-like movements), involuntary movements of the face and tongue, progressive cognitive impairment, muscle weakness, seizures and behavioral or personality changes. NA syndromes typically progress to cause serious complications. NA is inherited, but the disease-causing gene and inheritance pattern varies for each type.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:263440","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016987","ORPHANET_ID__c":"ORPHA:263440","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neuroacantocitosis","Spanish_Description_Source__c":"ORPHA:263440","Spanish_Description__c":"Los síndromes de neuroacantocitosis (NA) son un grupo de enfermedades genéticas que se caracterizan por la asociación de acantocitosis de glóbulos rojos (eritrocitos deformados como espinas) y una degeneración progresiva de los ganglios basales.","Spanish_Disease_Name__c":"neuroacantocitosis","Spanish_GARD_Synonym__c":null,"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":"Neuroacanthocytosis (NA) refers to a group of genetic disorders that are characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. The onset, severity and specific physical findings vary depending upon the specific type of NA present. Symptoms usually include chorea (involuntary, dance-like movements), involuntary movements of the face and tongue, progressive cognitive impairment, muscle weakness, seizures and behavioral or personality changes. NA syndromes typically progress to cause serious complications. NA is inherited, but the disease-causing gene and inheritance pattern varies for each type.","Curated_Disease_Description_Source__c":"GARD:0010902","Name":"Neuroacanthocytosis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Advocacy for Neuroacanthocytosis Patients","Website__c":"https://naadvocacy.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"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/263440","Source__c":"CN294033; MONDO:0016987","Xref__c":"ORPHA:263440"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C054546","Source__c":"MONDO:0016987","Xref__c":"D054546"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050765","Source__c":"MONDO:0016987","Xref__c":"DOID:0050765"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84926","Source__c":"MONDO:0016987","Xref__c":"C84926"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016987","Source__c":"GARD:0010902","Xref__c":"MONDO:0016987"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=976451","Source__c":"CN294033","Xref__c":"MEDGEN:976451"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN294033","Source__c":"CN294033","Xref__c":"CN294033"},{"URL__c":"https://www.ninds.nih.gov/health-information/disorders/neuroacanthocytosis"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Psychiatry"]},"synonyms":[""]}