{"Name":"Basal ganglia calcification, idiopathic, childhood-onset","DiseaseID__c":"GARD:0009598","id":9598,"encodedName":"basal-ganglia-calcification-idiopathic-childhood-onset","IsDeleted":false,"Disease_Name_Full__c":"Basal ganglia calcification, idiopathic, childhood-onset","Xref_IDs__c":"C1861967; C536276; MEDGEN:396262; MONDO:0007247; OMIM:114100","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"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":0,"Description_Source__c":"OMIM:114100","Disease_Description__c":"Bilateral striopallidodentate calcinosis, also known as idiopathic basal ganglia calcification (IBGC), is characterized by the accumulation of calcium deposits in different brain regions and is associated with a neurodegenerative clinical phenotype. The changes seen in IBGC occur in the absence of calcium or parathyroid hormone (PTH; {168450}) metabolic disorders, such as hypoparathyroidism (see {146200}) or pseudohypoparathyroidism (PHP; see {103580}).\\n\\nSee also the adult-onset form ({213600}), which is sometimes erroneously referred to as 'Fahr disease.'","GARD_Name__c":"Basal ganglia calcification, idiopathic, childhood-onset","GARD_Synonym__c":"bilateral striopallidodentate calcinosis childhood-onset; cerebral calcification nonarteriosclerotic idiopathic childhood-onset; ibgc childhood onset","Curated_Disease_Description_Source__c":"MEDGEN:C1861967","Curated_Disease_Description__c":"Bilateral striopallidodentate calcinosis, also known as idiopathic basal ganglia calcification (IBGC), is characterized by the accumulation of calcium deposits in different brain regions and is associated with a neurodegenerative clinical phenotype. The changes seen in IBGC occur in the absence of calcium or parathyroid hormone (PTH; 168450) metabolic disorders, such as hypoparathyroidism (see 146200) or pseudohypoparathyroidism (PHP; see 103580).See also the adult-onset form (213600), which is sometimes erroneously referred to as 'Fahr disease.'","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:114100","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007247","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Bilateral striopallidodentate calcinosis, also known as idiopathic basal ganglia calcification (IBGC), is characterized by the accumulation of calcium deposits in different brain regions and is associated with a neurodegenerative clinical phenotype. The changes seen in IBGC occur in the absence of calcium or parathyroid hormone (PTH; 168450) metabolic disorders, such as hypoparathyroidism (see 146200) or pseudohypoparathyroidism (PHP; see 103580).See also the adult-onset form (213600), which is sometimes erroneously referred to as 'Fahr disease.'","Curated_Disease_Description_Source__c":"MEDGEN:C1861967","GARD_Synonym__c":"bilateral striopallidodentate calcinosis childhood-onset; cerebral calcification nonarteriosclerotic idiopathic childhood-onset; ibgc childhood onset","Name":"Basal ganglia calcification, idiopathic, childhood-onset","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Dystonia Medical Research Foundation","Website__c":"https://dystonia-foundation.org/"},{"Account_Name__c":"International Parkinson and Movement Disorder Society","Website__c":"https://www.movementdisorders.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":"Leukodystrophy","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Leukodystrophies are a group of genetic neurological diseases that affect the white matter of the brain and spinal cord.","curated_tag_name":"Leukodystrophies"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1861967","Source__c":"C1861967","Xref__c":"C1861967"},{"URL__c":"https://www.omim.org/entry/114100","Source__c":"C1861967; MONDO:0007247","Xref__c":"OMIM:114100"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536276","Source__c":"MONDO:0007247","Xref__c":"C536276"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=396262","Source__c":"C1861967","Xref__c":"MEDGEN:396262"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007247","Source__c":"GARD:0009598","Xref__c":"MONDO:0007247"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics","Leukodystrophy"],"Disease Category":["Genetics","Leukodystrophy"],"Specialist":["Genetics"],"Account":["Leukodystrophy"]},"synonyms":["bilateral striopallidodentate calcinosis childhood-onset"," cerebral calcification nonarteriosclerotic idiopathic childhood-onset"," ibgc childhood onset"]}