ACTA2-AS1 gene related symptoms and diseases
All the information presented here about the ACTA2-AS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ACTA2-AS1 gene
Symptoms // Phenotype | % Cases |
---|---|
Dilatation | Very Common - Between 80% and 100% cases |
Ascending tubular aorta aneurysm | Very Common - Between 80% and 100% cases |
Moyamoya phenomenon | Very Common - Between 80% and 100% cases |
Hypertension | Uncommon - Between 30% and 50% cases |
Patent ductus arteriosus | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ACTA2-AS1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Coloboma
- Myocardial infarction
- Bicuspid aortic valve
- Aortic aneurysm
- Cutis marmorata
- Aortic dissection
- Thoracic aortic aneurysm
- Premature coronary artery atherosclerosis
And 3 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ACTA2-AS1 gene
Here you will find a list of rare diseases related to the ACTA2-AS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6
Alternate names
AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6 Is also known as familial thoracic aortic aneurysm with livedo reticularis and iris flocculi
Most common symptoms of AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6
- Hypertension
- Dilatation
- Patent ductus arteriosus
- Coloboma
- Myocardial infarction
More info about AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6
MOYAMOYA DISEASE 5; MYMY5
Description
Moyamoya disease is a cerebrovascular disorder caused by stenotic changes of terminal portions of the internal carotid arteries accompanied by surrounding fine arterial collateral vessels. These vascular networks resemble a 'puff of smoke' (Japanese: moyamoya) in angiographic imaging (summary by Roder et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (OMIM ).
Most common symptoms of MOYAMOYA DISEASE 5; MYMY5
- Dilatation
- Stroke
- Ascending tubular aorta aneurysm
- Moyamoya phenomenon
More info about MOYAMOYA DISEASE 5; MYMY5
SOURCES: OMIM
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