{"Name":"Subcortical band heterotopia","DiseaseID__c":"GARD:0001904","id":1904,"encodedName":"subcortical-band-heterotopia","IsDeleted":false,"Disease_Name_Full__c":"Subcortical band heterotopia","Xref_IDs__c":"C116933; C1848201; DOID:0111169; HP:0032409; MEDGEN:336288; MONDO:0020491; ORPHA:99796","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0020491","Disease_Description__c":"A developmental brain abnormality characterized by atypical migration of neurons during cortical development.","GARD_Name__c":"Subcortical band heterotopia","GARD_Synonym__c":"17-linked subcortical band heterotopia; band heterotopia; dc syndrome; dcx-related subcortical band heterotopia; double cortex syndrome; heco; heterotopic cortex; sbh; subcortical laminar heterotopia","Curated_Disease_Description_Source__c":"GARD:0001904","Curated_Disease_Description__c":"Subcortical band heterotopia is a condition in which nerve cells (neurons) do not move (migrate) to their proper locations in the fetal brain during early development. (Heterotopia means 'out of place.') Normally, the neurons that make up the outer surface of the brain (cerebral cortex) are distributed in a well-organized and multi-layered way. In people with subcortical band heterotopia, some neurons that should be part of the cerebral cortex do not reach it. These neurons stop their migration process in areas of the brain where they are not supposed to be and form band-like clusters of tissue. Since these bands are located beneath the cerebral cortex, they are said to be subcortical. In most cases, the bands are symmetric, which means they occur in the same places on the right and left sides of the brain. The abnormal brain development causes neurological problems in people with subcortical band heterotopia. The signs and symptoms of the condition depend on the size of the bands and the lack of development of the cerebral cortex. The signs and symptoms can vary from severe intellectual disability and seizures that begin early in life and affect both sides of the brain (generalized seizures) to normal intelligence with seizures occurring later in life and affecting only one side of the brain (focal seizures). Some affected individuals also have weak muscle tone (hypotonia), loss of fine motor skills such as using utensils, or behavioral problems. Subcortical band heterotopia is typically found when brain imaging is done following the onset of seizures, usually in adolescence or early adulthood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:99796","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0020491","ORPHANET_ID__c":"ORPHA:99796","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Heterotopia subcortical en banda","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"heterotopia subcortical en banda","Spanish_GARD_Synonym__c":"heterotopia subcortical laminar","Category_Linearization__c":"ORPHA:93890","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":"Subcortical band heterotopia is a condition in which nerve cells (neurons) do not move (migrate) to their proper locations in the fetal brain during early development. (Heterotopia means 'out of place.') Normally, the neurons that make up the outer surface of the brain (cerebral cortex) are distributed in a well-organized and multi-layered way. In people with subcortical band heterotopia, some neurons that should be part of the cerebral cortex do not reach it. These neurons stop their migration process in areas of the brain where they are not supposed to be and form band-like clusters of tissue. Since these bands are located beneath the cerebral cortex, they are said to be subcortical. In most cases, the bands are symmetric, which means they occur in the same places on the right and left sides of the brain. The abnormal brain development causes neurological problems in people with subcortical band heterotopia. The signs and symptoms of the condition depend on the size of the bands and the lack of development of the cerebral cortex. The signs and symptoms can vary from severe intellectual disability and seizures that begin early in life and affect both sides of the brain (generalized seizures) to normal intelligence with seizures occurring later in life and affecting only one side of the brain (focal seizures). Some affected individuals also have weak muscle tone (hypotonia), loss of fine motor skills such as using utensils, or behavioral problems. Subcortical band heterotopia is typically found when brain imaging is done following the onset of seizures, usually in adolescence or early adulthood.","Curated_Disease_Description_Source__c":"GARD:0001904","GARD_Synonym__c":"17-linked subcortical band heterotopia; band heterotopia; dc syndrome; dcx-related subcortical band heterotopia; double cortex syndrome; heco; heterotopic cortex; sbh; subcortical laminar heterotopia","Name":"Subcortical band heterotopia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Epilepsy Foundation","Website__c":"https://www.epilepsy.com/"},{"Account_Name__c":"PVNH Support & Awareness","Website__c":"https://pvnhsupport.com/"}],"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1848201"},{"Type__c":"GTR","Curie__c":"MEDGEN:C4284594"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001904","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1848201","Source__c":"C1848201","Xref__c":"C1848201"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111169","Source__c":"MONDO:0020491","Xref__c":"DOID:0111169"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C116933","Source__c":"C1848201; MONDO:0020491","Xref__c":"C116933"},{"URL__c":"https://www.orpha.net/en/disease/detail/99796","Source__c":"C1848201; MONDO:0020491; ORPHA:99796","Xref__c":"ORPHA:99796"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=336288","Source__c":"C1848201","Xref__c":"MEDGEN:336288"},{"URL__c":"https://medlineplus.gov/genetics/condition/subcortical-band-heterotopia","Source__c":"GARD:0001904","Xref__c":"https://medlineplus.gov/genetics/condition/subcortical-band-heterotopia"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020491","Source__c":"GARD:0001904","Xref__c":"MONDO:0020491"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0032409","Source__c":"C1848201","Xref__c":"HP:0032409"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DCX","GHR_URL__c":"https://medlineplus.gov/genetics/gene/dcx","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"EML1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PAFAH1B1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pafah1b1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","X-linked recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Epilepsy"],"Account":["Epilepsy"]},"synonyms":["17-linked subcortical band heterotopia"," band heterotopia"," dc syndrome"," dcx-related subcortical band heterotopia"," double cortex syndrome"," heco"," heterotopic cortex"," sbh"," subcortical laminar heterotopia"]}