ORPHA:500
Noonan syndrome with multiple lentigines
Also known as: Cardiomyopathic lentiginosis · Familial multiple lentigines syndrome · LEOPARD syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase). Source fetch failed for trials.
Publications
1,946
Trials
—
Interventional, condition-specific
Researchers
1,206
Distinct authors in sample
Gene link
BRAF, MAP2K1, NRAS
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare multisystem genetic disorder characterized by cutaneous lentigines, hypertrophic , short stature, pectus deformity, and facial features.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007893
- MeSH:D044542
- UMLS:C0175704
- NCIT:C84820
Additional Mondo synonyms (3)
familial multiple lentigines syndrome · generalised lentiginosis · lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded Growth, deafness
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.”
2/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedPresent
Definitive — BRAF, MAP2K1, NRAS, PTPN11, RAF1
- LiteraturePresent
1,946 matched papers (983 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot checked
Trial fetch failed or incomplete
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 (BRAF, MAP2K1, NRAS…).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
1,946
1,946 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=5449) is 41.
1,946 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
983 in the last 10 years · low confidence
Phrase hits: 1,946 · MeSH hits: 0
Who's working on it?
1,206
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.
- 01Tartaglia M14 papers · 2026
Genetics and Rare Disease Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Papers in Europe PMC - 02Gelb BD8 papers · 2026
Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Papers in Europe PMC - 03Limongelli G8 papers · 2026
Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples; Division of Cardiology, A.O.R.N. "Sant'Anna & San Sebastiano", Caserta I-81100, Italy. Electronic address: limongelligiuseppe@libero.it.
Papers in Europe PMC - 04Monda E7 papers · 2026
Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples.
Papers in Europe PMC - 05Calcagni G5 papers · 2024
The European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart - ERN GUARD-Heart; Pediatric Cardiology and Arrhythmia/Syncope Units, Bambino Gesù Children's Hospital IRCSS, Rome, Italy.
Papers in Europe PMC - 06Kaski JP5 papers · 2026
Centre for Pediatric Inherited and Rare Cardiovascular Disease, University College London Institute of Cardiovascular Science, London, UK.
Papers in Europe PMC - 07Bennett AM4 papers · 2025
Department of Pharmacology, Yale School of Medicine, Yale University, New Haven, Connecticut, USA.
Papers in Europe PMC - 08Caiazza M4 papers · 2023
Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
Papers in Europe PMC - 09Lioncino M4 papers · 2023
Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples.
Papers in Europe PMC - 10Mussa A4 papers · 2026
Department of Public Health and Pediatric Sciences, University of Torino, 10126 Turin, Italy.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
—
interventional trials for this specific condition
We could not load trial data for this condition right now.
Data as of 27 July 2026
low confidence
Recruiting interventional trials
From the matched ClinicalTrials.gov set
Trial data could not be loaded for this build. This is not the same as finding zero interventional trials.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This 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 with multiple lentigines" OR "Cardiomyopathic lentiginosis" OR "Familial multiple lentigines syndrome" OR "LEOPARD syndrome" OR "generalised lentiginosis" OR "lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded Growth, deafness" OR "lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of genitals, retarded Growth, deafness"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
(empty)
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Source errors: trials: Error: HTTP 400 for https://clinicaltrials.gov/api/v2/studies?query.cond=%22Noonan%20syndrome%20with%20multiple%20lentigines%22%20OR%20%22Cardiomyopathic%20lentiginosis%22%20OR%20%22Familial%20multiple%20lentigines%20syndrome%22%20OR%20%22LEOPARD%20syndrome%22%20OR%20%22generalised%20lentiginosis%22%20OR%20%22lentigines%2C%20electrocardiographic%20conduction%20defects%2C%200cular%20hypertelorism%2C%20pulmonary%20stenosis%2C%20abnormalities%20of%20the%20genitals%2C%20retarded%20Growth%2C%20deafness%22%20OR%20%22lentigines%2C%20electrocardiographic%20conduction%20defects%2C%200cular%20hypertelorism%2C%20pulmonary%20stenosis%2C%20abnormalities%20of%20genitals%2C%20retarded%20Growth%2C%20deafness%22%20OR%20%22MAP2K1%22%20OR%20%22PTPN11%22%20OR%20%22RAF1%22&format=json&pageSize=100&countTotal=true
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (1946) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T14:03:28.561Z