{"Name":"Intracranial berry aneurysm","DiseaseID__c":"GARD:0017161","id":17161,"encodedName":"intracranial-berry-aneurysm","IsDeleted":false,"Disease_Name_Full__c":"Intracranial berry aneurysm","Xref_IDs__c":"703226008; C3839866; DOID:0060228; MEDGEN:825711; MONDO:0016483; OMIMPS:105800; ORPHA:231160","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016483","Disease_Description__c":"An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm.","GARD_Name__c":"Intracranial berry aneurysm","GARD_Synonym__c":"aneurysm, intracranial berry; familial aneurysmal subarachnoid haemorrhage; familial aneurysmal subarachnoid hemorrhage; familial berry aneurysm; familial cerebral saccular aneurysm; familial intracranial saccular aneurysm; saccular cerebral aneurysm","Curated_Disease_Description_Source__c":"ORPHA:231160","Curated_Disease_Description__c":"A rare genetic neurovascular malformation characterized by sac-like bulging of cerebral arteries due to weakening of the endothelial layer. Familial occurrence is suspected when two or more affected first- to third-degree relatives are present in a family. Aneurysms may remain asymptomatic throughout life, or rupture and thereby cause potentially life-threatening subarachnoid hemorrhage. Patients with familial cerebral saccular aneurysm are more likely to develop more than one brain aneurysm, are at greater risk of rupture, and tend to have poorer outcome after rupture than patients with sporadic cerebral aneurysms.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:231160","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016483","ORPHANET_ID__c":"ORPHA:231160","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aneurisma cerebral sacular familiar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"aneurisma cerebral sacular familiar","Spanish_GARD_Synonym__c":"aneurisma en baya familiar; aneurisma sacular intracraneal familiar","Category_Linearization__c":"ORPHA:98006","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":"A rare genetic neurovascular malformation characterized by sac-like bulging of cerebral arteries due to weakening of the endothelial layer. Familial occurrence is suspected when two or more affected first- to third-degree relatives are present in a family. Aneurysms may remain asymptomatic throughout life, or rupture and thereby cause potentially life-threatening subarachnoid hemorrhage. Patients with familial cerebral saccular aneurysm are more likely to develop more than one brain aneurysm, are at greater risk of rupture, and tend to have poorer outcome after rupture than patients with sporadic cerebral aneurysms.","Curated_Disease_Description_Source__c":"ORPHA:231160","GARD_Synonym__c":"aneurysm, intracranial berry; familial aneurysmal subarachnoid haemorrhage; familial aneurysmal subarachnoid hemorrhage; familial berry aneurysm; familial cerebral saccular aneurysm; familial intracranial saccular aneurysm; saccular cerebral aneurysm","Name":"Intracranial berry aneurysm","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Aneurysm and AVM Foundation","Website__c":"https://taafonline.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":"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":"All ages","Provided_By__c":"ORPHA:231160"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=825711","Source__c":"C3839866","Xref__c":"MEDGEN:825711"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS105800","Source__c":"MONDO:0016483","Xref__c":"OMIMPS:105800"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=703226008","Source__c":"C3839866; MONDO:0016483","Xref__c":"703226008"},{"URL__c":"https://www.orpha.net/en/disease/detail/231160","Source__c":"C3839866; MONDO:0016483; ORPHA:231160","Xref__c":"ORPHA:231160"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3839866","Source__c":"C3839866","Xref__c":"C3839866"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060228","Source__c":"MONDO:0016483","Xref__c":"DOID:0060228"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016483","Source__c":"GARD:0017161","Xref__c":"MONDO:0016483"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ANGPTL6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"THSD1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:231160","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231160","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal localized widening (dilatation) of the aortic root.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002616","HPO_Synonym__c":"Bulge in wall of root of large artery that carries blood away from heart; Enlarged aortic root; Increased aortic root diameter","HPO_Name__c":"Aortic root aneurysm","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231160","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001269","HPO_Synonym__c":"Weakness of one side of body","HPO_Name__c":"Hemiparesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231160","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A small, sac-like aneurysm (outpouching) of a cerebral blood vessel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007029","HPO_Synonym__c":"Cerebral saccular aneurysm","HPO_Name__c":"Cerebral berry aneurysm","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231160","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012246","HPO_Name__c":"Oculomotor nerve palsy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231160","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231160","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the brainstem.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002363","HPO_Synonym__c":"Abnormal shape of brainstem; Abnormality of brainstem morphology; Abnormality of the brainstem","HPO_Name__c":"Abnormal brainstem morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231160","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the circle of Willis, also known as the cerebral arterial circle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012518","HPO_Synonym__c":"Abnormality of the cerebral arterial circle","HPO_Name__c":"Abnormal circle of Willis morphology","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231160","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002647","HPO_Synonym__c":"Tear in inner wall of large artery that carries blood away from heart","HPO_Name__c":"Aortic dissection","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231160","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002326","HPO_Synonym__c":"Mini stroke; TIA; Transient ischemic attacks","HPO_Name__c":"Transient ischemic attack","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231160","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hemorrhage occurring between the arachnoid mater and the pia mater.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002138","HPO_Synonym__c":"Subarachnoid hemorrhage","HPO_Name__c":"Subarachnoid hemorrhage","Feature_System__c":"Nervous System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231160","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040197","HPO_Synonym__c":"Cerebral softening","HPO_Name__c":"Encephalomalacia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231160","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001123","HPO_Synonym__c":"Partial loss of field of vision; Visual field defects","HPO_Name__c":"Visual field defect","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231160","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hemorrhage occurring within the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002170","HPO_Synonym__c":"Bleeding within the skull","HPO_Name__c":"Intracranial hemorrhage","Feature_System__c":"Nervous System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231160","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002621","HPO_Synonym__c":"Atherosclerotic cardiovascular disease; Narrowing and hardening of arteries","HPO_Name__c":"Atherosclerosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Vascular Neurology","Vascular Medicine","Pediatrics"]},"synonyms":["aneurysm, intracranial berry"," familial aneurysmal subarachnoid haemorrhage"," familial aneurysmal subarachnoid hemorrhage"," familial berry aneurysm"," familial cerebral saccular aneurysm"," familial intracranial saccular aneurysm"," saccular cerebral aneurysm"]}