Retinal arterial macroaneurysm with supravalvular pulmonic stenosis

Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (RAMSVPS) is a disorder that affects blood vessels in the eyes and heart. The condition generally becomes apparent in infancy or childhood. RAMSVPS damages the arteries in the light-sensitive tissue at the ...1

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Symptoms of Retinal arterial macroaneurysm with supravalvular pulmonic stenosis

Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms

  • Autosomal ...
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Genetics of Retinal arterial macroaneurysm with supravalvular pulmonic stenosis

Genetic Changes: RAMSVPS is caused by a mutation in the IGFBP7 gene. This gene provides instructions for making a protein called insulin-like growth factor-binding protein 7 (IGFBP7). The IGFBP7 protein is active in the lining of blood vessels ...2

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)3 ...

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ retinal-arterial-macroaneurysm-with-supravalvular-pulmonic-stenosis
  2. ibid.
  3. ibid.

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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.