{"Name":"Cerebral arteriovenous malformation","DiseaseID__c":"GARD:0003020","id":3020,"encodedName":"cerebral-arteriovenous-malformation","IsDeleted":false,"Disease_Name_Full__c":"Cerebral arteriovenous malformation","Xref_IDs__c":"234142008; C0917804; C2936; D002538; DOID:0060688; HP:0002408; MEDGEN:214590; MONDO:0007154; OMIM:108010; ORPHA:46724","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007154","Disease_Description__c":"Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures.","GARD_Name__c":"Cerebral arteriovenous malformation","GARD_Synonym__c":"arteriovenous malformation of the brain, somatic; arteriovenous malformations; arteriovenous malformations of the brain; avm - cerebral arteriovenous malformation; bavm; cerebral arteriovenous malformations; cerebral av malformation; congenital cerebral arteriovenous malformation; intracranial arteriovenous malformation; intracranial haemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation; intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation","Curated_Disease_Description_Source__c":"GARD:0003020","Curated_Disease_Description__c":"Cerebral arteriovenous malformation, also known as intracranial arteriovenous malformations (AVMs), are abnormal connections between the arteries and veins in the brain. Most people with brain or spinal AVMs experience few, if any, major symptoms. About 12 percent of people with this condition experience symptoms that vary greatly in severity. Seizures and headaches are the most common symptoms of AVMs but individuals can also experience a wide range of other neurological symptoms. AVMs can cause hemorrhage (bleeding) in the brain, which can be fatal. Symptoms can appear at any age, but are most often noticed when people are in their twenties, thirties, or forties. The cause of AVMs is not yet well understood but it is believed that AVMs result from mistakes that occur during embryonic or fetal development.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:46724","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007154","ORPHANET_ID__c":"ORPHA:46724","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Malformación arteriovenosa cerebral","Spanish_Description_Source__c":"ORPHA:46724","Spanish_Description__c":"Es una comunicación congénita anómala entre las venas y las arterias cerebrales en forma de nido, una estructura anatómica compuesta de arteriolas aferentes dilatadas y enredadas y venas de drenaje sin lecho capilar intermedio, que puede ser asintomática o producir, según la localización y el tamaño de la malformación, cefaleas de gravedad variable, convulsiones generalizadas o focales, deficiencias neurológicas focales (debilidad, adormecimiento, dificultad en el habla, pérdida de visión) o, en caso de rotura, hemorragia intracraneal potencialmente mortal.","Spanish_Disease_Name__c":"malformación arteriovenosa cerebral","Spanish_GARD_Synonym__c":"malformación arteriovenosa intracraneal","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":"Cerebral arteriovenous malformation, also known as intracranial arteriovenous malformations (AVMs), are abnormal connections between the arteries and veins in the brain. Most people with brain or spinal AVMs experience few, if any, major symptoms. About 12 percent of people with this condition experience symptoms that vary greatly in severity. Seizures and headaches are the most common symptoms of AVMs but individuals can also experience a wide range of other neurological symptoms. AVMs can cause hemorrhage (bleeding) in the brain, which can be fatal. Symptoms can appear at any age, but are most often noticed when people are in their twenties, thirties, or forties. The cause of AVMs is not yet well understood but it is believed that AVMs result from mistakes that occur during embryonic or fetal development.","Curated_Disease_Description_Source__c":"GARD:0003020","GARD_Synonym__c":"arteriovenous malformation of the brain, somatic; arteriovenous malformations; arteriovenous malformations of the brain; avm - cerebral arteriovenous malformation; bavm; cerebral arteriovenous malformations; cerebral av malformation; congenital cerebral arteriovenous malformation; intracranial arteriovenous malformation; intracranial haemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation; intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation","Name":"Cerebral arteriovenous malformation","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"AVM Alliance","Website__c":"https://www.avmalliance.org/"},{"Account_Name__c":"The Aneurysm and AVM Foundation","Website__c":"https://taafonline.org/"},{"Account_Name__c":"AVM Survivors' Network","Website__c":"https://www.avmsurvivors.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":"All ages","Provided_By__c":"ORPHA:46724"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=234142008","Source__c":"C0917804; MONDO:0007154","Xref__c":"234142008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=214590","Source__c":"C0917804","Xref__c":"MEDGEN:214590"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060688","Source__c":"MONDO:0007154","Xref__c":"DOID:0060688"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C2936","Source__c":"C0917804; MONDO:0007154","Xref__c":"C2936"},{"URL__c":"https://www.orpha.net/en/disease/detail/46724","Source__c":"C0917804; MONDO:0007154; ORPHA:46724","Xref__c":"ORPHA:46724"},{"URL__c":"https://www.omim.org/entry/108010","Source__c":"C0917804; MONDO:0007154; ORPHA:46724","Xref__c":"OMIM:108010"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0917804","Source__c":"C0917804","Xref__c":"C0917804"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C002538","Source__c":"MONDO:0007154","Xref__c":"D002538"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0002408","Source__c":"C0917804","Xref__c":"HP:0002408"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007154","Source__c":"GARD:0003020","Xref__c":"MONDO:0007154"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KRAS","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kras","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"IL6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:46724","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:46724","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bleeding into the ventricles of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030746","HPO_Name__c":"Intraventricular hemorrhage","Feature_System__c":"Nervous System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:46724","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:46724","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002354","HPO_Synonym__c":"Amnesia; Forgetfulness; Memory impairment; Memory loss; Memory problems; Poor memory","HPO_Name__c":"Memory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:46724","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:46724","HPO_Frequency__c":"Very frequent (80-99%)","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:46724","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100761","HPO_Name__c":"Visceral angiomatosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:46724","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:46724","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality in one's ability to control their attention towards a specific subject or task can include difficulties in changing or maintaining attention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:5200044","HPO_Name__c":"Reduced attention regulation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:46724","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hemorrhage into the parenchyma of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001342","HPO_Synonym__c":"Bleeding in brain; Intracerebral hemorrhage","HPO_Name__c":"Cerebral hemorrhage","Feature_System__c":"Nervous System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:46724","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"}}],"tags":{"Disease Category":["Cancer","Genetics","Neurology","Congenital Abnormality"],"Cause":["Genetics"],"Specialist":["Genetics","Neurology","Vascular Neurology","Vascular Medicine","Pediatrics"]},"synonyms":["arteriovenous malformation of the brain, somatic"," arteriovenous malformations"," arteriovenous malformations of the brain"," avm - cerebral arteriovenous malformation"," bavm"," cerebral arteriovenous malformations"," cerebral av malformation"," congenital cerebral arteriovenous malformation"," intracranial arteriovenous malformation"," intracranial haemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation"," intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation"]}