Phenotypes associated with the disease Extracranial carotid artery aneurysm (ORPHA:494424):
- Abnormality of the neck (HP:0000464): An abnormality of the neck. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:494424)
- Abnormality of the nervous system (HP:0000707): An abnormality of the nervous system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:494424)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:494424)
- Stroke (HP:0001297): Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:494424)
- Atherosclerosis (HP:0002621): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:494424)
- Abnormal cranial nerve physiology (HP:0031910): A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:494424)
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:494424)
- Hemiparesis (HP:0001269): 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. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:494424)
- Hoarse voice (HP:0001609): Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:494424)
- Thromboembolic stroke (HP:0001727): A cerebrovascular accident (stroke) that occurs because of thromboembolism. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:494424)
- Abnormal thrombosis (HP:0001977): Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:494424)
- Subarachnoid hemorrhage (HP:0002138): Hemorrhage occurring between the arachnoid mater and the pia mater. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:494424)
- Aphasia (HP:0002381): An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:494424)
- Vasculitis (HP:0002633): Inflammation of blood vessel. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:494424)
- Arteriosclerosis (HP:0002634): Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:494424)
- Cerebral ischemia (HP:0002637): Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:494424)
- Upper limb muscle weakness (HP:0003484): Weakness of the muscles of the arms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:494424)
- Abnormality of connective tissue (HP:0003549): Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:494424)
- Total anomalous pulmonary venous return (HP:0005160): Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:494424)
- Cranial nerve paralysis (HP:0006824). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:494424)
- Arteritis (HP:0012089): Arterial inflammation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:494424)
- Pain (HP:0012531): An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:494424)
- Opportunistic infection (HP:0031690): An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:494424)
- Severe infection (HP:0032169): A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:494424)
- Immunodeficiency (HP:0002721): Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:494424)
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:494424)
- Arterial fibromuscular dysplasia (HP:0005313): An arterial lesion that is characterized by either intimal fibroplasia, with neointimal lesions of cells and matrix deposition, or medial fibroplasia, in which there is loss of smooth muscle cells and increased deposition of collagen and proteoglycans in the medial layer. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:494424)
- Extrapulmonary tuberculosis (HP:0032271): A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:494424)