{"Name":"Classic lissencephaly","DiseaseID__c":"GARD:0005049","id":5049,"encodedName":"classic-lissencephaly","IsDeleted":false,"Disease_Name_Full__c":"Classic lissencephaly","Xref_IDs__c":"C0431375; C84640; MEDGEN:98463; MONDO:0015146; ORPHA:102009","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"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":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:102009","Disease_Description__c":"PAFAH1B1-associated lissencephaly includes Miller-Dieker syndrome (MDS), isolated lissencephaly sequence (ILS), and (rarely) subcortical band heterotopia (SBH). Lissencephaly and SBH are cortical malformations caused by deficient neuronal migration during embryogenesis. Lissencephaly refers to a \\\"smooth brain\\\" with absent gyri (agyria) or abnormally wide gyri (pachygyria). SBH refers to a band of heterotopic gray matter located just beneath the cortex and separated from it by a thin zone of normal white matter. MDS is characterized by lissencephaly, typical facial features, and severe neurologic abnormalities. ILS is characterized by lissencephaly and its direct sequelae: developmental delay, intellectual disability, and seizures.","GARD_Name__c":"Classic lissencephaly","GARD_Synonym__c":"4-layered lissencephaly; four-layered lissencephaly; lissencephaly type 1; lissencephaly, type i; type 1 lissencephaly; type i lissencephaly","Curated_Disease_Description_Source__c":"ORPHA:102009","Curated_Disease_Description__c":"This rare brain development disease affects how the folds of the outer surface of the brain form before birth. It belongs to a group of conditions linked to changes in a gene called PAFAH1B1 and includes Miller-Dieker syndrome, isolated lissencephaly sequence, and, less commonly, a pattern called subcortical band heterotopia. In lissencephaly, the brain surface is unusually smooth, with either no normal folds (agyria) or very broad, shallow folds (pachygyria). In subcortical band heterotopia, a band of gray matter sits under the brain’s surface, separated from it by a thin layer of normal white matter. Miller-Dieker syndrome combines lissencephaly with typical facial features and severe neurological problems. Isolated lissencephaly sequence involves lissencephaly with its direct effects, including developmental delay, intellectual disability, and seizures.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:102009","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015146","ORPHANET_ID__c":"ORPHA:102009","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Lisencefalia clásica","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"lisencefalia clásica","Spanish_GARD_Synonym__c":"lisencefalia tipo 1","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":"This rare brain development disease affects how the folds of the outer surface of the brain form before birth. It belongs to a group of conditions linked to changes in a gene called PAFAH1B1 and includes Miller-Dieker syndrome, isolated lissencephaly sequence, and, less commonly, a pattern called subcortical band heterotopia. In lissencephaly, the brain surface is unusually smooth, with either no normal folds (agyria) or very broad, shallow folds (pachygyria). In subcortical band heterotopia, a band of gray matter sits under the brain’s surface, separated from it by a thin layer of normal white matter. Miller-Dieker syndrome combines lissencephaly with typical facial features and severe neurological problems. Isolated lissencephaly sequence involves lissencephaly with its direct effects, including developmental delay, intellectual disability, and seizures.","Curated_Disease_Description_Source__c":"ORPHA:102009","GARD_Synonym__c":"4-layered lissencephaly; four-layered lissencephaly; lissencephaly type 1; lissencephaly, type i; type 1 lissencephaly; type i lissencephaly","Name":"Classic lissencephaly","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Child Neurology Foundation","Website__c":"https://www.childneurologyfoundation.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":"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"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0431375"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98463","Source__c":"C0431375","Xref__c":"MEDGEN:98463"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0431375","Source__c":"C0431375","Xref__c":"C0431375"},{"URL__c":"https://www.orpha.net/en/disease/detail/102009","Source__c":"C0431375; MONDO:0015146; ORPHA:102009","Xref__c":"ORPHA:102009"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=253147000","Source__c":"C0431375","Xref__c":"253147000"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84640","Source__c":"C0431375","Xref__c":"C84640"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015146","Source__c":"GARD:0005049","Xref__c":"MONDO:0015146"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0006818","Source__c":"C0431375","Xref__c":"HP:0006818"},{"URL__c":"https://medlineplus.gov/genetics/condition/isolated-lissencephaly-sequence","Source__c":"GARD:0005049","Xref__c":"https://medlineplus.gov/genetics/condition/isolated-lissencephaly-sequence"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities"],"Account":["Epilepsy"]},"synonyms":["4-layered lissencephaly"," four-layered lissencephaly"," lissencephaly type 1"," lissencephaly, type i"," type 1 lissencephaly"," type i lissencephaly"]}