ORPHA:2884
Piebaldism
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
929
87.2th percentile
Trials
4
Interventional, condition-specific
Researchers
1,102
Distinct authors in sample
Gene link
KIT, SNAI2
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Piebaldism is a rare pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008244
- MeSH:D016116
- OMIM:172800
- UMLS:C0080024
- NCIT:C85009
Additional Mondo synonyms (2)
piebald trait · piebaldism
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.
- Gene identifiedPresent
Definitive — KIT, SNAI2
- LiteraturePresent
929 matched papers (364 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 trialPresent
4 matched on ClinicalTrials.gov
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 (KIT, SNAI2).
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?
929
929 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.
929 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).
364 in the last 10 years · medium confidence · 87.2th percentile (publications denominator)
Phrase hits: 929 · MeSH hits: 0
Who's working on it?
1,102
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.
- 01Zhang Y7 papers · 2024
Department of Dermatology, Shengjing Hospital of China Medical University, Shenyang, China.
Papers in Europe PMC - 02Wolkerstorfer A6 papers · 2023
a Department of Dermatology and The Netherlands Institute for Pigment Disorders (SNIP) , Academic Medical Center, University of Amsterdam , Amsterdam , The Netherlands.
Papers in Europe PMC - 03Bekkenk MW5 papers · 2023
Netherlands Institute for Pigment Disorders, Department of Dermatology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands.
Papers in Europe PMC - 04Luiten RM4 papers · 2021
a Department of Dermatology and The Netherlands Institute for Pigment Disorders (SNIP) , Academic Medical Center, University of Amsterdam , Amsterdam , The Netherlands.
Papers in Europe PMC - 05Alizadeh Z3 papers · 2024
Immunology, Asthma & Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
Papers in Europe PMC - 06Arnesen T3 papers · 2024
Department of Biomedicine, University of Bergen, Bergen, Norway.
Papers in Europe PMC - 07Bolton D3 papers · 2024
Molecular Biology Department, New York State Institute for Basic Research (IBR) in Developmental Disabilities, Staten Island, New York, United States of America.
Papers in Europe PMC - 08Dörfel M3 papers · 2024
Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Woodbury, New York, United States of America.
Papers in Europe PMC - 09Fazlollahi MR3 papers · 2024
Immunology, Asthma & Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
Papers in Europe PMC - 10Garcia A3 papers · 2024
Human Genetics Department, New York State Institute for Basic Research (IBR) in Developmental Disabilities, Staten Island, New York, United States of America.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
4
interventional trials for this specific condition
4 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
4 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 86.7th percentile).
medium confidence · 86.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
4 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
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.
"Piebaldism" OR "piebald trait"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Piebaldism" OR "piebald trait" OR "SNAI2"
Recall-expansion terms: SNAI2
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: 4 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-26T21:32:36.526Z