{"Name":"Familial porencephaly","DiseaseID__c":"GARD:0002258","id":2258,"encodedName":"familial-porencephaly","IsDeleted":false,"Disease_Name_Full__c":"Familial porencephaly","Xref_IDs__c":"1162864000; C1867983; DOID:0112313; MEDGEN:401353; MONDO:0020496; OMIMPS:175780; ORPHA:99810","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0020496","Disease_Description__c":"An instance of porencephaly that is caused by an inherited modification of the individual's genome.","GARD_Name__c":"Familial porencephaly","GARD_Synonym__c":"familial porencephalic cyst; hereditary porencephaly","Curated_Disease_Description_Source__c":"MONDO:0020496","Curated_Disease_Description__c":"Familial porencephaly is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. In familial porencephaly, fluid-filled cysts develop in the brain (porencephaly) during fetal development or soon after birth. These cysts typically occur in only one side of the brain and vary in size. The cysts are thought to be the result of bleeding within the brain (hemorrhagic stroke). People with this condition also have leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI). During infancy, people with familial porencephaly typically have paralysis affecting one side of the body (infantile hemiplegia). Affected individuals may also have recurrent seizures (epilepsy), migraine headaches, speech problems, intellectual disability, and uncontrolled muscle tensing (dystonia). Some people are severely affected, and others may have no symptoms related to the brain cysts.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:99810","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0020496","ORPHANET_ID__c":"ORPHA:99810","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Porencefalia familiar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"porencefalia familiar","Spanish_GARD_Synonym__c":null,"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":"Familial porencephaly is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. In familial porencephaly, fluid-filled cysts develop in the brain (porencephaly) during fetal development or soon after birth. These cysts typically occur in only one side of the brain and vary in size. The cysts are thought to be the result of bleeding within the brain (hemorrhagic stroke). People with this condition also have leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI). During infancy, people with familial porencephaly typically have paralysis affecting one side of the body (infantile hemiplegia). Affected individuals may also have recurrent seizures (epilepsy), migraine headaches, speech problems, intellectual disability, and uncontrolled muscle tensing (dystonia). Some people are severely affected, and others may have no symptoms related to the brain cysts.","Curated_Disease_Description_Source__c":"MONDO:0020496","GARD_Synonym__c":"familial porencephalic cyst; hereditary porencephaly","Name":"Familial porencephaly","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Vascular Neurology","Tag_Category__c":"Specialist","curated_tag_name":"Vascular neurology"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:99810"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:99810"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1867983"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002258","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK7046","Source__c":"Gene Review","Xref__c":"NBK7046"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1867983","Source__c":"C1867983","Xref__c":"C1867983"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112313","Source__c":"MONDO:0020496","Xref__c":"DOID:0112313"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS175780","Source__c":"MONDO:0020496","Xref__c":"OMIMPS:175780"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=401353","Source__c":"C1867983","Xref__c":"MEDGEN:401353"},{"URL__c":"https://www.orpha.net/en/disease/detail/99810","Source__c":"C1867983; MONDO:0020496; ORPHA:99810","Xref__c":"ORPHA:99810"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1162864000","Source__c":"C1867983","Xref__c":"1162864000"},{"URL__c":"https://medlineplus.gov/genetics/condition/familial-porencephaly","Source__c":"GARD:0002258","Xref__c":"https://medlineplus.gov/genetics/condition/familial-porencephaly"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020496","Source__c":"GARD:0002258","Xref__c":"MONDO:0020496"},{"URL__c":"https://medlineplus.gov/genetics/condition/col4a1-related-brain-small-vessel-disease","Source__c":"GARD:0002258","Xref__c":"https://medlineplus.gov/genetics/condition/col4a1-related-brain-small-vessel-disease"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"COLGALT1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"COL4A2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"COL4A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col4a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Epilepsy","Vascular Neurology","Vascular Medicine","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["familial porencephalic cyst"," hereditary porencephaly"]}