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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: -

  A summary on this disease is available in Español (2014) Nederlands (2014) Français (2007) Deutsch (2004) Italiano (2004) Slovak (2004, pdf) Polski ()

Detailed information

General public

Guidelines

Disease review articles

Genetic Testing

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.