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ORPHA:422

Idiopathic/heritable pulmonary arterial hypertension

high confidenceDisorder

Also known as: Idiopathic and/or familial pulmonary arterial hypertension

Publications

44

43.2th percentile

Trials

0

Interventional, condition-specific

Researchers

277

Distinct authors in sample

Gene link

—

Readiness

1/6

Stages with a signal

Clinical definition (Orphanet)

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

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

IFPAH · idiopathic and/or familial pulmonary arterial hypertension · pulmonary hypertension, primary, type 1

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.”

1/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    44 matched papers (35 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

44

44 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

44 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).

35 in the last 10 years · high confidence · 43.2th percentile (publications denominator)

Phrase hits: 44 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

277

Distinct author names in 44 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Matsubara H5 papers · 2018

    1 Department of Cardiology, National Hospital Organization Okayama Medical Center, Okayama, Japan.

    Papers in Europe PMC
  2. 02
    Ogawa A5 papers · 2018

    2 Department of Clinical Science, National Hospital Organization Okayama Medical Center, Okayama, Japan.

    Papers in Europe PMC
  3. 03
    Beghetti M4 papers · 2023

    Pediatric Cardiology Unit and Centre Universitaire de Cardiologie et Chirurgie Cardiaque Pédiatrique, University Hospitals of Geneva and Lausanne, Lausanne, Switzerland.

    Papers in Europe PMC
  4. 04
    Tamura Y3 papers · 2023

    Pulmonary Hypertension Center, International University of Health and Welfare Mita Hospital, Tokyo, Japan.

    Papers in Europe PMC
  5. 05
    Alehan D2 papers · 2020

    Department of Pediatric Cardiology,Hacettepe University,Sihhiye,Ankara,Turkey.

    Papers in Europe PMC
  6. 06
    Aypar E2 papers · 2020

    Department of Pediatric Cardiology,Hacettepe University,Sihhiye,Ankara,Turkey.

    Papers in Europe PMC
  7. 07
    Channick R2 papers · 2024

    Pulmonary and Critical Care Division, David Geffen School of Medicine University of California Los Angeles Los Angeles California USA.

    Papers in Europe PMC
  8. 08
    Chin KM2 papers · 2024

    Department of Internal Medicine UT Southwestern Medical Center Dallas Texas USA.

    Papers in Europe PMC
  9. 09
    Ertugrul İ2 papers · 2020

    Department of Pediatric Cardiology,Hacettepe University,Sihhiye,Ankara,Turkey.

    Papers in Europe PMC
  10. 10
    Ivy DD2 papers · 2019

    University of Colorado, Children's Hospital Colorado, Denver, CO, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 4 · after dedupe 4 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 4 · dropped 0 · fetched 2026-07-29

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 (4)

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 Idiopathic/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.

"Idiopathic/heritable pulmonary arterial hypertension" OR "Idiopathic and/or familial pulmonary arterial hypertension" OR "IFPAH" OR "pulmonary hypertension, primary, type 1"

Run this search on Europe PMC

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

"Idiopathic/heritable pulmonary arterial hypertension" OR "Idiopathic and/or familial pulmonary arterial hypertension" OR "IFPAH" OR "pulmonary hypertension, primary, type 1"

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

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T13:47:48.190Z