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Idiopathic/heritable pulmonary arterial hypertension

Disease definition

A form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. The majority cases have an identifiable genetic cause, but a significant proportion are idiopathic.

ORPHA:422

Classification level: Disorder
  • Synonym(s):
    • Idiopathic and/or familial pulmonary arterial hypertension
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant or Not applicable or Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: I27.0
  • ICD-11: BB01.0
  • OMIM: 178600  265400  615342  615343  615344
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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