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ORPHA:330015

Lead poisoning

high confidenceDisorder

Also known as: Lead intoxication · Plumbism · Saturnism

Publications

23,568

93.6th percentile

Trials

12

Interventional, condition-specific

Researchers

1,004

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Lead poisoning is defined as acute or chronic exposure to lead resulting in lead accumulation (blood lead concentration (BLC) >5 ug/dL) that can affect every organ system in the body and to which children are more susceptible. Clinical manifestations depend on the amount and duration of exposure and include abdominal pain, colic, constipation, lead line on gingival tissue, arthralgia, myalgia, peripheral , fatigue, irritability, anemia, chronic nephropathy and hypertension. In children, even low levels of exposure (BLC <5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

plumbism · saturnism

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

    23,568 matched papers (3,888 in last 10 years) Source

  3. Phenotype characterisedPresent

    60 HPO annotations (e.g. Fatigue; Premature birth; Distal muscle weakness) 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

    12 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?

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

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

Phenotypes (Monarch / HPO)

60

Associated phenotypes · MONDO:0018019

  • Fatigue
  • Premature birth
  • Distal muscle weakness
  • Poor gross motor coordination
  • Intellectual disability

Showing 5 of 60 — 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)

13 associated chemicals · 56 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Dimercaprol · therapeutic
  • Edetic Acid · therapeutic
  • ferric pyrophosphate · therapeutic
  • monoisoamyl-2,3-dimercaptosuccinate · therapeutic
  • Penicillamine · therapeutic
  • phosphoric acid · therapeutic
  • Succimer · therapeutic
  • Thiamine · therapeutic
  • Unithiol · therapeutic
  • Lead · marker/mechanism
  • lead oxide · marker/mechanism
  • Soil Pollutants · marker/mechanism

Pathways: Porphyrin and chlorophyll metabolism; Metabolic pathways; Endocrine resistance; RNA transport; Homologous recombination; IL-17 signaling pathway; TNF signaling pathway; Leukocyte transendothelial migration

MyDisease.info · MONDO:0018019

Literature

Is anyone studying this?

23,568

23,568 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.

23,568 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).

3,888 in the last 10 years · high confidence · 93.6th percentile (publications denominator)

Phrase hits: 23,568 · MeSH hits: 299

Open Europe PMC search

Who's working on it?

1,004

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
    Dsouza HS3 papers · 2025

    Department of Radiation Biology and Toxicology, Manipal School of Life Sciences, Manipal Academy of Higher Education, Manipal, Karnataka, 576104, India. hsdsouza@gmail.com.

    Papers in Europe PMC
  2. 02
    Fuller R3 papers · 2026

    Pure Earth Blacksmith Institute, New York, New York, USA Fuller@pureearth.org.

    Papers in Europe PMC
  3. 03
    Hauptman M3 papers · 2026

    Department of Pediatrics (RCL Brewster, K Acosta, D Story, S Shah, A Woolf, and M Hauptman), Boston Children's Hospital, Harvard Medical School, Boston, Mass; Region 1 New England Pediatric Environmental Health Specialty Unit (K Acosta, S Shah, A Woolf, N Buncher, and M Hauptman), Boston, Mass.

    Papers in Europe PMC
  4. 04
    Hu H3 papers · 2026

    University of Southern California Keck School of Medicine, Los Angeles, California, USA.

    Papers in Europe PMC
  5. 05
    Mathieu O3 papers · 2026

    Service de Pharmacologie Médicale et Toxicologie, Centre hospitalier universitaire de Montpellier, et Equipe ContEm - UMR 5151 Hydrosciences, Université de Montpellier, Montpellier, France.

    Papers in Europe PMC
  6. 06
    Pennington AF3 papers · 2026

    Lead Poisoning Prevention and Surveillance Branch, Division of Environmental Health Science and Practice, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, Georgia.

    Papers in Europe PMC
  7. 07
    Adenis A2 papers · 2025

    Centre d'Investigation Clinique Antilles-Guyane Inserm 1424, Département Recherche-Innovation-Santé publique, Centre Hospitalier Universitaire de Guyane, Cayenne, French Guiana, France.

    Papers in Europe PMC
  8. 08
    Allaouat S2 papers · 2020

    Faculty of Health Sciences, Institute of Public Health and Clinical Nutrition, University of Eastern Finland, Kuopio, Finland.

    Papers in Europe PMC
  9. 09
    Aryal S2 papers · 2026

    Department of Internal Medicine Lumbini Provincial Hospital Butwal Lumbini Province Nepal.

    Papers in Europe PMC
  10. 10
    Bardon T2 papers · 2025

    Centre d'Investigation Clinique Antilles-Guyane Inserm 1424, Département Recherche-Innovation-Santé publique, Centre Hospitalier Universitaire de Guyane, Cayenne, French Guiana, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

12

interventional trials for this specific condition

12 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 110 trials are registered for poisoning, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

12 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 93.2th percentile).

high confidence · 93.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: poisoning

110

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

15 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 55 · after dedupe 55 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 55 · 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 (55)

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 Lead poisoning — 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.

"Lead poisoning" OR "Lead intoxication" OR "Plumbism" OR "Saturnism"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Lead Poisoning

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

"Lead poisoning" OR "Lead intoxication" OR "Plumbism" OR "Saturnism"

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

Study-type breakdown: 12 interventional · 15 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"poisoning"

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

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 2026-07-27T14:02:26.993Z