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.

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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

SOURCES: OMIM MESH

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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