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ORPHA:648

Noonan syndrome

medium confidenceDisorder

Publications

10,213

95.9th percentile

Trials

18

Interventional, condition-specific

Researchers

1,397

Distinct authors in sample

Gene link

A2ML1, BRAF, ERF

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare, highly variable, multisystemic disorder mainly characterized by short stature, distinctive facial features, heart defects, and an increased risk to develop tumors in childhood.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

Noonan's syndrome

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — A2ML1, BRAF, ERF, KRAS, LZTR1…

  2. LiteraturePresent

    10,213 matched papers (6,599 in last 10 years) Source

  3. Phenotype characterisedPresent

    694 HPO annotations (e.g. Abnormal pulmonary valve morphology; Low posterior hairline; Hepatomegaly) Source

  4. Animal modelPresent

    17 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationPresent

    2 FDA designations (1 FDA orphan-indication approval) — e.g. Dasatinib Source

  6. Interventional trialPresent

    18 matched on ClinicalTrials.gov (5 recruiting in sample)

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?

Yes — we know a specific gene responsible (A2ML1, BRAF, ERF…).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

694

Associated phenotypes · MONDO:0018997

  • Abnormal pulmonary valve morphology
  • Low posterior hairline
  • Hepatomegaly
  • Delayed skeletal maturation
  • Arrhythmia

Showing 5 of 694 — open Monarch for the full list.

Animal models (Monarch / Alliance)

17

Model associations linked to this Mondo ID

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)

2

Designations · 1 with FDA orphan-indication approval

  • FDA DasatinibHypertrophic Cardiomyopathy Noonan Syndrome · 2020-10-26 · Not FDA Approved for Orphan Indication
  • FDA Somatropin (Norditropin)Short stature Noonan Syndrome · 2006-08-09

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

6

Drugs / clinical candidates · MONDO_0018997

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

10,213

10,213 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

10,213 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).

6,599 in the last 10 years · medium confidence · 95.9th percentile (publications denominator)

Phrase hits: 8,471 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,397

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
    Green T8 papers · 2026

    Division of Interdisciplinary Brain Sciences, Department of Psychiatry and Behavioral Science, School of Medicine, Stanford University, Stanford, CA 94305, USA.

    Papers in Europe PMC
  2. 02
    Tartaglia M8 papers · 2026

    Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS.

    Papers in Europe PMC
  3. 03
    Cardaropoli S5 papers · 2026

    Department of Public Health and Pediatric Sciences, University of Torino, 10126 Turin, Italy.

    Papers in Europe PMC
  4. 04
    Massuras S5 papers · 2026

    Department of Public Health and Pediatric Sciences, University of Torino, 10126 Turin, Italy.

    Papers in Europe PMC
  5. 05
    Mussa A5 papers · 2026

    Department of Public Health and Pediatric Sciences, University of Torino, 10126 Turin, Italy.

    Papers in Europe PMC
  6. 06
    Reynolds G5 papers · 2026

    Department of Public Health and Pediatrics, Postgraduate School of Pediatrics, University of Torino, 10126 Turin, Italy.

    Papers in Europe PMC
  7. 07
    Calvo M4 papers · 2026

    Postgraduate School of Pediatrics, University of Turin, Turin, Italy.

    Papers in Europe PMC
  8. 08
    Draaisma JMT4 papers · 2026

    Dept. of Pediatrics, Radboud University Medical Center, Amalia Children's Hospital, 6500 HB, Nijmegen, The Netherlands. Jos.Draaisma@radboudumc.nl.

    Papers in Europe PMC
  9. 09
    Jorge AAL4 papers · 2026

    Unidade de Endocrinologia-Genetica (LIM/25) do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.

    Papers in Europe PMC
  10. 10
    Rondot F4 papers · 2026

    Department of Medical Sciences, University of Turin, Turin, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

18

interventional trials for this specific condition

18 interventional trials matched this specific condition name; 5 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

18 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94.5th percentile).

medium confidence · 94.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

14 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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · 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 (3)

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 Noonan syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Directly listed under NPRD Group 2.

Group 2 — long-term / lifelong lower-cost interventions

NPRD envisages State Government support for dietary formulae, hormones, and other lower-cost interventions. This is a different route from the central CoE ₹50 lakh pathway; ask your state health department and a CoE which channel applies.

Central CoE funding may also apply depending on current rules — confirm with a notified Centre of Excellence. Do not assume the ₹50 lakh ceiling covers Group 2 by default. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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.

("Noonan syndrome" OR "Noonan's syndrome") OR ("A2ML1" OR "A2ML1 syndrome" OR "A2ML1-related" OR "ERF syndrome" OR "ERF-related" OR "LZTR1" OR "LZTR1 syndrome" OR "LZTR1-related")

Run this search on Europe PMC

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

"Noonan syndrome" OR "Noonan's syndrome"

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: 18 interventional · 14 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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T14:44:23.506Z