{"Name":"Internal carotid agenesis","DiseaseID__c":"GARD:0003012","id":3012,"encodedName":"internal-carotid-agenesis","IsDeleted":false,"Disease_Name_Full__c":"Internal carotid agenesis","Xref_IDs__c":"722004001; C4302907; MEDGEN:928576; MONDO:0020048; ORPHA:981","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0020048","Disease_Description__c":"Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerised tomography.","GARD_Name__c":"Internal carotid agenesis","GARD_Synonym__c":"agenesis of internal carotid artery; internal carotid absence; internal carotid artery agenesis","Curated_Disease_Description_Source__c":"GARD:0003012","Curated_Disease_Description__c":"Internal carotid absence (also known as internal carotid agenesis) occurs when one or both of the blood vessels that supply blood to the brain (internal carotid arteries) do not develop (agenesis). The missing carotid artery can be on either side of the body. People missing one or both of the internal carotid arteries may not have any symptoms, because the body develops other blood vessel pathways to carry blood to the head. Some people do have symptoms including headaches, blurred vision, paralysis of some of the nerves in the head (palsy), recurrent seizures (epilepsy), or muscle weakness on one side of the body (hemiparesis). People who have internal carotid absence have an increased risk for enlargement of the other blood vessels (aneurysm) in the brain. The exact cause of internal carotid absence is not known. Diagnosis of internal carotid absence often occurs accidentally when a person is having a brain MRI or CT scan. The diagnosis can be confirmed with magnetic resonance angiography (MRA). Due to a higher risk of brain aneurysms seen in people who have internal carotid absence, screening for aneurysms may be recommended.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:981","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020048","ORPHANET_ID__c":"ORPHA:981","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ausencia de la carótida interna","Spanish_Description_Source__c":"ORPHA:981","Spanish_Description__c":"La agenesia de la arteria carótida interna (ICA) (uni o bilateral) es un defecto del desarrollo que puede ser asintomático o producir lesiones cerebrovasculares. Es una malformación rara, con solamente un centenar de casos descritos en la literatura. Cuando los síntomas están presentes, éstos están causados por insuficiencia cerebrovascular, compresión del cerebro por los vasos que se dilatan para compensar la ausencia de la ICA, o bien por la presencia de un aneurisma. Los aneurismas intracraneales asociados ocurren en un 25 a 35% de los pacientes y son a menudo responsables de la hemorragia intracraneal, que puede presentarse como el primer síntoma. La ausencia de la arteria ICA es el resultado, o bien de la agenesia o de la aplasia. El término de agenesia se usa cuando tanto la ICA como su canal óseo están ausentes, mientras que hay restos de canales carótideos en casos de aplasia. La ausencia de la ICA se puede detectar por angiografía o por tomografía computarizada.","Spanish_Disease_Name__c":"ausencia de la carótida interna","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":"Internal carotid absence (also known as internal carotid agenesis) occurs when one or both of the blood vessels that supply blood to the brain (internal carotid arteries) do not develop (agenesis). The missing carotid artery can be on either side of the body. People missing one or both of the internal carotid arteries may not have any symptoms, because the body develops other blood vessel pathways to carry blood to the head. Some people do have symptoms including headaches, blurred vision, paralysis of some of the nerves in the head (palsy), recurrent seizures (epilepsy), or muscle weakness on one side of the body (hemiparesis). People who have internal carotid absence have an increased risk for enlargement of the other blood vessels (aneurysm) in the brain. The exact cause of internal carotid absence is not known. Diagnosis of internal carotid absence often occurs accidentally when a person is having a brain MRI or CT scan. The diagnosis can be confirmed with magnetic resonance angiography (MRA). Due to a higher risk of brain aneurysms seen in people who have internal carotid absence, screening for aneurysms may be recommended.","Curated_Disease_Description_Source__c":"GARD:0003012","GARD_Synonym__c":"agenesis of internal carotid artery; internal carotid absence; internal carotid artery agenesis","Name":"Internal carotid agenesis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Brain Aneurysm Foundation","Website__c":"https://www.bafound.org/"}],"GARD_Disease_Tag__c":[{"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:981"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/981","Source__c":"C4302907; MONDO:0020048; ORPHA:981","Xref__c":"ORPHA:981"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=928576","Source__c":"C4302907","Xref__c":"MEDGEN:928576"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722004001","Source__c":"C4302907; MONDO:0020048","Xref__c":"722004001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4302907","Source__c":"C4302907","Xref__c":"C4302907"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020048","Source__c":"GARD:0003012","Xref__c":"MONDO:0020048"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:981","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a localized dilatation or ballooning of a cerebral artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004944","HPO_Name__c":"Dilatation of the cerebral artery","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:981","HPO_Frequency__c":"Frequent (30-79%)","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:981","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100702","HPO_Synonym__c":"Fluid-filled sac located in membrane surrounding brain or spinal cord","HPO_Name__c":"Arachnoid cyst","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:981","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:981","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002637","HPO_Synonym__c":"Brain ischemia; Cerebrovascular ischemia; Disruption of blood oxygen supply to brain","HPO_Name__c":"Cerebral ischemia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Neurology","Congenital Abnormality"],"Specialist":["Neurology","Vascular Neurology","Vascular Medicine","Pediatrics"]},"synonyms":["agenesis of internal carotid artery"," internal carotid absence"," internal carotid artery agenesis"]}