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Idiopathic/heritable pulmonary arterial hypertension

Disease definition

Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH, see this term) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH; see this term) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown .


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
  • OMIM: 178600  265400  615342  615343  615344
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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