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Familial retinal arterial macroaneurysm

Disease definition

Familial retinal arterial macroaneurysm is a rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction.

ORPHA:284247

Classification level: Disorder
  • Synonym(s):
    • FRAM
    • Retinal arterial macroaneurysm and supravalvular pulmonic stenosis
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: -
  • OMIM: 614224
  • UMLS: -
  • MeSH: -
  • GARD: 12779
  • MedDRA: -

Detailed information

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Additional information

Further information on this disease

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