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ORPHA:275777

Heritable pulmonary arterial hypertension

low confidenceSubtype of disorder

Also known as: FPAH · Familial pulmonary arterial hypertension · HPAH · Hereditary pulmonary arterial hypertension

Publications

1,585

Trials

1

Interventional, condition-specific

Researchers

1,244

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

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 and potentially fatal.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (3)

HpaH · familial pulmonary arterial hypertension · hereditary pulmonary arterial hypertension

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,585 matched papers (908 in last 10 years) Source

  3. Phenotype characterisedPresent

    101 HPO annotations (e.g. Increased pulmonary vascular resistance; Elevated pulmonary artery pressure; Dyspnea) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

101

Associated phenotypes · MONDO:0017148

  • Increased pulmonary vascular resistance
  • Elevated pulmonary artery pressure
  • Dyspnea
  • Pulmonary arterial hypertension

Showing 4 of 101 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0017148

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,585

1,585 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,585 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

908 in the last 10 years · low confidence

Phrase hits: 1,585 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,244

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Grünig E10 papers · 2026

    Centre for Pulmonary Hypertension, Thoraxklinik gGmbH Heidelberg at Heidelberg University Hospital, Röntgenstrasse 1, 69126 Heidelberg, Germany.

    Papers in Europe PMC
  2. 02
    Austin ED9 papers · 2026

    Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN.

    Papers in Europe PMC
  3. 03
    Eichstaedt CA9 papers · 2026

    Laboratory for Molecular Genetic Diagnostics, Institute of Human Genetics, Heidelberg University, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.

    Papers in Europe PMC
  4. 04
    Li Q8 papers · 2025

    Department of Paediatric Cardiology, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  5. 05
    Gu H7 papers · 2025

    Department of Paediatric Cardiology, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  6. 06
    Ivy DD7 papers · 2026

    University of Colorado, Children's Hospital Colorado, Aurora, Colorado.

    Papers in Europe PMC
  7. 07
    Zhang C7 papers · 2025

    Department of Paediatric Cardiology, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  8. 08
    Matsubara H6 papers · 2026

    Department of Clinical Science, National Hospital Organization Okayama Medical Center, Okayama, Japan; Department of Cardiology, National Hospital Organization Okayama Medical Center, Okayama, Japan. Electronic address: matsubara.hiromi@gmail.com.

    Papers in Europe PMC
  9. 09
    Morrell NW6 papers · 2025

    Dept of Medicine, University of Cambridge, Cambridge, UK.

    Papers in Europe PMC
  10. 10
    Nichols WC6 papers · 2026

    Division of Human Genetics, Cincinnati Children's Hospital Medical Center and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting. 528 trials are registered for pulmonary arterial hypertension, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: pulmonary arterial hypertension

528

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

5 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 14 · after dedupe 14 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 14 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (14)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Heritable pulmonary arterial hypertension — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Heritable pulmonary arterial hypertension" OR "Familial pulmonary arterial hypertension" OR "Hereditary pulmonary arterial hypertension"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Heritable pulmonary arterial hypertension" OR "Familial pulmonary arterial hypertension" OR "Hereditary pulmonary arterial hypertension"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"pulmonary arterial hypertension"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: FPAH; HPAH

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1585) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T11:38:37.558Z