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ORPHA:363972

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

high confidenceDisorder

Also known as: CBL syndrome · Noonan syndrome-like disorder with JMML

Publications

497

76.7th percentile

Trials

1

Interventional, condition-specific

Researchers

1,340

Distinct authors in sample

Gene link

CBL

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, polymalformative syndrome characterized by a Noonan-like associated with increased risk of developing juvenile myelomonocytic leukemia (JMML). The Noonan-like (NS) includes facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), , and small head circumference. It can be associated with heart defects or , ectodermal anomalies, and short stature. The NS is subtle or even inapparent in a large proportion of subjects, but may occasionally be severe. Leukemia can be the only clinical manifestation of the syndrome.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

CBL-related disorder · Cbl syndrome · Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia · Noonan-like 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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — CBL

  2. LiteraturePresent

    497 matched papers (313 in last 10 years) Source

  3. Phenotype characterisedPresent

    48 HPO annotations (e.g. Polyhydramnios; Joint hypermobility; Global developmental delay) 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 (1 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 (CBL).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

48

Associated phenotypes · MONDO:0013308

  • Polyhydramnios
  • Joint hypermobility
  • Global developmental delay
  • Mitral regurgitation
  • Juvenile myelomonocytic leukemia

Showing 5 of 48 — 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

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?

497

497 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.

497 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).

313 in the last 10 years · high confidence · 76.7th percentile (publications denominator)

Phrase hits: 437 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,340

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
    Tartaglia M10 papers · 2025

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

    Papers in Europe PMC
  2. 02
    Niemeyer CM6 papers · 2025

    Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.

    Papers in Europe PMC
  3. 03
    Aoki Y5 papers · 2025

    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.

    Papers in Europe PMC
  4. 04
    Flotho C5 papers · 2022

    a Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine , University of Freiburg , Freiburg , Germany.

    Papers in Europe PMC
  5. 05
    Rossi C5 papers · 2023

    Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria Di Bologna, Bologna, Italy.

    Papers in Europe PMC
  6. 06
    Stieglitz E5 papers · 2025

    Department of Pediatrics, Benioff Children's Hospital, University of California, San Francisco, San Francisco, CA, USA. elliot.stieglitz@ucsf.edu.

    Papers in Europe PMC
  7. 07
    Galperin E4 papers · 2022

    Department of Molecular and Cellular Biochemistry, University of Kentucky, Lexington, KY, USA.

    Papers in Europe PMC
  8. 08
    Gelb BD4 papers · 2026

    Departments of Pediatrics and Genetic and Genomic Sciences, Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York City, New York.

    Papers in Europe PMC
  9. 09
    Masetti R4 papers · 2025

    Pediatric Oncology and Hematology Unit "Lalla Seràgnoli", IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.

    Papers in Europe PMC
  10. 10
    Niihori T4 papers · 2025

    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.

    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; 1 currently recruiting in our sample.

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

high 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.

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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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 (2)

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-like disorder with juvenile myelomonocytic leukemia — 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.

("Noonan syndrome-like disorder with juvenile myelomonocytic leukemia" OR "CBL syndrome" OR "Noonan syndrome-like disorder with JMML" OR "CBL-related disorder" OR "Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia" OR "Noonan-like syndrome") OR ("CBL-related")

Run this search on Europe PMC

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

"Noonan syndrome-like disorder with juvenile myelomonocytic leukemia" OR "CBL syndrome" OR "Noonan syndrome-like disorder with JMML" OR "CBL-related disorder" OR "Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia" OR "Noonan-like 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: 1 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 2026-07-27T14:44:46.503Z