{"Name":"Infantile bilateral striatal necrosis","DiseaseID__c":"GARD:0005040","id":5040,"encodedName":"infantile-bilateral-striatal-necrosis","IsDeleted":false,"Disease_Name_Full__c":"Infantile bilateral striatal necrosis","Xref_IDs__c":"718174008; C0795996; MEDGEN:167090; MONDO:0015518; ORPHA:1576","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":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015518","Disease_Description__c":"Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms).","GARD_Name__c":"Infantile bilateral striatal necrosis","GARD_Synonym__c":"ibsn; infantile striatonigral degeneration; infantile striatonigral necrosis","Curated_Disease_Description_Source__c":"MONDO:0015518","Curated_Disease_Description__c":"Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic.","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:1576","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015518","ORPHANET_ID__c":"ORPHA:1576","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Necrosis estriatal bilateral infantil","Spanish_Description_Source__c":"ORPHA:1576","Spanish_Description__c":"La necrosis estriatal bilateral infantil (IBSN) comprende varios síndromes de degeneración esponjosa bilateral y simétrica del núcleo caudado, del putamen y del globo pálido, caracterizada por una regresión en el desarrollo, coreoatetosis y distonía que progresa a una cuadriparesia espástica. La IBSN puede ser familiar o esporádica (véanse estos términos).","Spanish_Disease_Name__c":"necrosis estriatal bilateral infantil","Spanish_GARD_Synonym__c":"degeneración estriatonigral infantil; necrosis estriatonigral infantil","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":"Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic.","Curated_Disease_Description_Source__c":"MONDO:0015518","GARD_Synonym__c":"ibsn; infantile striatonigral degeneration; infantile striatonigral necrosis","Name":"Infantile bilateral striatal necrosis","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:1576"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0795996"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=167090","Source__c":"C0795996","Xref__c":"MEDGEN:167090"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0795996","Source__c":"C0795996","Xref__c":"C0795996"},{"URL__c":"https://www.orpha.net/en/disease/detail/1576","Source__c":"C0795996; MONDO:0015518; ORPHA:1576","Xref__c":"ORPHA:1576"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718174008","Source__c":"C0795996; MONDO:0015518","Xref__c":"718174008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015518","Source__c":"GARD:0005040","Xref__c":"MONDO:0015518"}],"Inheritance__c":["Autosomal recessive","Autosomal dominant","Mitochondrial inheritance"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["ibsn"," infantile striatonigral degeneration"," infantile striatonigral necrosis"]}