{"Name":"Vein of Galen aneurysmal malformation","DiseaseID__c":"GARD:0005467","id":5467,"encodedName":"vein-of-galen-aneurysmal-malformation","IsDeleted":false,"Disease_Name_Full__c":"Vein of Galen aneurysmal malformation","Xref_IDs__c":"253194008; C0431420; C536535; C98642; HP:0030713; MEDGEN:140912; MONDO:0015196; ORPHA:1053","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0015196","Disease_Description__c":"Vein of Galen aneurysm is a rare formof arteriovenous malformation in which the embryonic precursor to the vein of Galen, a vein at the base of the brain, dilates causing too much blood to rush to the heart. This can lead to rapid heart failure. Other features may include increased head circumference resulting from hydrocephalus, unusually prominent veins on the face and scalp, developmental delay, persistent headache, and other neurological findings. Vein of Galen aneurysm is often recognized on an ultrasound late in pregnancy. In other cases, it is diagnosed after birth. Although the exact cause remains unknown, this condition appears to result from a defect in early fetal development. Treatment is aimed at decreasing the blood flow through the malformation while maximizing the blood supply to the brain. Minimally invasive surgical techniques are preferred, such as endovascular embolization.","GARD_Name__c":"Vein of Galen aneurysmal malformation","GARD_Synonym__c":"aneurysm of the vein of galen; ectasia or varix of the vein of galen; galen vein aneurysm; galenic arteriovenous malformation; median prosencephalic arteriovenous fistula; vein of galen aneurysm; vein of galen aneurysm malformation; vein of galen arteriovenous malformations; vein of galen malformation; vgam","Curated_Disease_Description_Source__c":"GARD:0005467","Curated_Disease_Description__c":"Vein of Galen aneurysm is a rare form of arteriovenous malformation in which the embryonic precursor to the vein of Galen, a vein at the base of the brain, dilates causing too much blood to rush to the heart. This can lead to rapid heart failure. Other features may include increased head circumference resulting from hydrocephalus, unusually prominent veins on the face and scalp, developmental delay, persistent headache, and other neurological findings. Vein of Galen aneurysm is often recognized on an ultrasound late in pregnancy. In other cases, it is diagnosed after birth. Although the exact cause remains unknown, this condition appears to result from a defect in early fetal development.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:1053","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015196","ORPHANET_ID__c":"ORPHA:1053","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Malformación aneurismática de la vena de galeno","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"malformación aneurismática de la vena de galeno","Spanish_GARD_Synonym__c":"malformación arteriovenosa de la vena de galeno","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":"Vein of Galen aneurysm is a rare form of arteriovenous malformation in which the embryonic precursor to the vein of Galen, a vein at the base of the brain, dilates causing too much blood to rush to the heart. This can lead to rapid heart failure. Other features may include increased head circumference resulting from hydrocephalus, unusually prominent veins on the face and scalp, developmental delay, persistent headache, and other neurological findings. Vein of Galen aneurysm is often recognized on an ultrasound late in pregnancy. In other cases, it is diagnosed after birth. Although the exact cause remains unknown, this condition appears to result from a defect in early fetal development.","Curated_Disease_Description_Source__c":"GARD:0005467","GARD_Synonym__c":"aneurysm of the vein of galen; ectasia or varix of the vein of galen; galen vein aneurysm; galenic arteriovenous malformation; median prosencephalic arteriovenous fistula; vein of galen aneurysm; vein of galen aneurysm malformation; vein of galen arteriovenous malformations; vein of galen malformation; vgam","Name":"Vein of Galen aneurysmal malformation","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Aneurysm and AVM Foundation","Website__c":"https://taafonline.org/"},{"Account_Name__c":"National Organization of Vascular Anomalies","Website__c":"https://www.novanews.org/"},{"Account_Name__c":"VOGM Support Network","Website__c":"https://www.vogm.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"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":"Antenatal","Provided_By__c":"ORPHA:1053"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1053"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1053"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005467","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK52764","Source__c":"Gene Review","Xref__c":"NBK52764"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536535","Source__c":"MONDO:0015196","Xref__c":"C536535"},{"URL__c":"https://www.orpha.net/en/disease/detail/1053","Source__c":"C0431420; MONDO:0015196; ORPHA:1053","Xref__c":"ORPHA:1053"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0431420","Source__c":"C0431420","Xref__c":"C0431420"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=140912","Source__c":"C0431420","Xref__c":"MEDGEN:140912"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=253194008","Source__c":"C0431420; MONDO:0015196","Xref__c":"253194008"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0030713","Source__c":"C0431420","Xref__c":"HP:0030713"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98642","Source__c":"MONDO:0015196","Xref__c":"C98642"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015196","Source__c":"GARD:0005467","Xref__c":"MONDO:0015196"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"EPHB4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1053","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100784","HPO_Name__c":"Peripheral arteriovenous fistula","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1053","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the cerebral blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100659","HPO_Synonym__c":"Abnormality of the cerebral blood vessels; Abnormality of the cerebral vasculature","HPO_Name__c":"Abnormal cerebral vascular morphology","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1053","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal outpouching or sac-like dilatation in the wall of an artery, vein or the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002617","HPO_Synonym__c":"Aneurysmal dilatation; Wider than typical opening or gap","HPO_Name__c":"Vascular dilatation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Cancer","Genetics","Neurology","Congenital Abnormality"],"Cause":["Genetics"],"Specialist":["Genetics","Neurology","Vascular Neurology","Vascular Medicine","Pediatrics"]},"synonyms":["aneurysm of the vein of galen"," ectasia or varix of the vein of galen"," galen vein aneurysm"," galenic arteriovenous malformation"," median prosencephalic arteriovenous fistula"," vein of galen aneurysm"," vein of galen aneurysm malformation"," vein of galen arteriovenous malformations"," vein of galen malformation"," vgam"]}