Heritable pulmonary arterial hypertension

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Heritable pulmonary arterial hypertension

ORPHA:275777Etiological subtype

Also called FPAH · Familial pulmonary arterial hypertension · HPAH · Hereditary pulmonary arterial hypertension

What it is

Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.

Key facts

Prevalence
<1 / 1 000 000 (Europe)
Age of onset
All ages
Inheritance
Autosomal dominant, Autosomal recessive
Classified as
Etiological subtype

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Genes

ATP13A3Disease-causing germline mutation(s)
BMPR2Disease-causing germline mutation(s) (loss of function)
CAV1Disease-causing germline mutation(s)
EIF2AK4Disease-causing germline mutation(s) (loss of function)
GDF2Disease-causing germline mutation(s)
KCNK3Disease-causing germline mutation(s) (loss of function)
SMAD9Disease-causing germline mutation(s)
SOX17Major susceptibility factor
TBX4Disease-causing germline mutation(s)
ACVRL1Candidate gene tested
ENGCandidate gene tested

ICD-10 codes

I27.0filed under a broader ICD-10 category — shared with 2 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

MEDDRA 10085244MONDO 0017148OMIM 178600OMIM 615342UMLS C0340543

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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