Phenotypes associated with the disease aortic aneurysm, familial thoracic 6 (OMIM:611788):
- Thoracic aortic aneurysm (HP:0012727): An abnormal localized widening (dilatation) of the thoracic aorta. Evidence: PCS. (PMID:17994018)
- Ascending tubular aorta aneurysm (HP:0004970): An abnormal localized widening (dilatation) of the tubular part of the ascending aorta. Evidence: PCS. Frequency: 18/92. (PMID:17994018)
- Moyamoya phenomenon (HP:0011834): A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis. Evidence: PCS. (PMID:19409525)
- Iris flocculi (HP:0500007): Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris. Evidence: PCS. (PMID:17994018)
- Descending aortic dissection (HP:0012499): A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space. Evidence: PCS. Frequency: 13/92. (PMID:17994018)
- Ascending aortic dissection (HP:0004933): A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space. Evidence: PCS. Frequency: 46/102. (PMID:17994018;PMID:19409525)
- Premature coronary artery atherosclerosis (HP:0005181): Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45. Evidence: PCS. Frequency: 26/127. (PMID:19409525)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:19409525)
- Livedo reticularis (HP:0033505): Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension. Evidence: PCS. (PMID:17994018)
- Aortic aneurysm (HP:0004942): Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter. Evidence: PCS. (PMID:19409525)