ORPHA:3440
Waardenburg syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
3,540
94.6th percentile
Trials
0
Interventional, condition-specific
Researchers
1,138
Distinct authors in sample
Gene link
KITLG, MITF, PAX3
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic multiple anomalies characterized by deafness and defects in neural crest-derived structures, including pigmentation anomalies of the eyes, hair, and skin. Four clinical phenotypes are associated with the term ''Waardenburg syndrome'' (WS).
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018094
- MeSH:D014849
- UMLS:C3266898
- NCIT:C85222
Additional Mondo synonyms (1)
Waardenburg'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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — KITLG, MITF, PAX3, SNAI2
- LiteraturePresent
3,540 matched papers (1,538 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 found
No matched interventional trial under our ClinicalTrials.gov rules
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 (KITLG, MITF, PAX3…).
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?
3,540
3,540 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.
3,540 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).
1,538 in the last 10 years · medium confidence · 94.6th percentile (publications denominator)
Phrase hits: 3,540 · MeSH hits: 0
Who's working on it?
1,138
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Li X6 papers · 2025
College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, National Clinical Research Center for Otolaryngologic Diseases, Key Lab of Hearing Impairment Science of Ministry of Education, Key Lab of Hearing Impairment Prevention and Treatment of Beijing, China; Department of Otorhinolaryngology Head and Neck Surgery, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing Key Laboratory for Pediatric Diseases of Otolaryngology-Head and Neck Surgery, Beijing, China.
Papers in Europe PMC - 02Chen Y5 papers · 2025
Department of Endocrinology, Union Hospital, Huazhong University of Science and Technology, Wuhan 430000, China.
Papers in Europe PMC - 03Yang Y5 papers · 2026
National Clinical Research Center for Otorhinolaryngologic Disease, Chinese PLA General Hospital, No.6, Fucheng Road, Haidian District, Beijing 100048, China.
Papers in Europe PMC - 04Ma J4 papers · 2025
Department of Otorhinolaryngology Head and Neck Surgery, Kunming Children's Hospital, Kunming, Yunnan, China.
Papers in Europe PMC - 05Pingault V4 papers · 2025
Université de Paris, INSERM, Imagine Institute, UMR 1163, Laboratory of Embryology and Genetics of Human Malformation, F-75015 Paris, France; Fédération de Génétique, Service de Génétique des Maladies rares, AP-HP, Hôpital Necker-Enfants-Malades, 149 rue de Sèvres, F-75015 Paris, France.
Papers in Europe PMC - 06Wang X4 papers · 2025
Department of Otolaryngology Head and Neck Surgery, Harvard Medical School, Boston, Massachusetts, USA.
Papers in Europe PMC - 07Wang Y4 papers · 2025
Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.
Papers in Europe PMC - 08Zhang Y4 papers · 2025
Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.
Papers in Europe PMC - 09Dai P3 papers · 2023
College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, National Clinical Research Center for Otolaryngologic Diseases, Key Lab of Hearing Impairment Science of Ministry of Education, Key Lab of Hearing Impairment Prevention and Treatment of Beijing, China. Electronic address: daipu301@vip.sina.com.
Papers in Europe PMC - 10Feng Y3 papers · 2025
Department of Otorhinolaryngology, The Affiliated Changsha Central Hospital, Hengyang Medical School, University of South China, Changsha, China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
2 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.
None of the matched observational studies is currently listed as recruiting.
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.
"Waardenburg syndrome" OR "Waardenburg's syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Waardenburg syndrome" OR "Waardenburg's syndrome" OR "KITLG" OR "MITF" OR "PAX3" OR "SNAI2"
Recall-expansion terms: KITLG, MITF, PAX3, SNAI2
Study-type breakdown: 0 interventional · 2 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 2026-07-26T23:11:41.751Z