ORPHA:895
Waardenburg syndrome type 2
Also known as: WS2 · Waardenburg syndrome type II
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
376
76.6th percentile
Trials
0
Interventional, condition-specific
Researchers
1,205
Distinct authors in sample
Gene link
KITLG, MITF
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
An subtype of Waardenburg syndrome (WS) characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum.
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:0019517
- MeSH:C536463
- UMLS:C2700265
- NCIT:C75009
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
- LiteraturePresent
376 matched papers (177 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).
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?
376
376 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=5449) is 41.
376 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).
177 in the last 10 years · medium confidence · 76.6th percentile (publications denominator)
Phrase hits: 376 · MeSH hits: 0
Who's working on it?
1,205
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.
- 01Chen Y10 papers · 2025
Laboratory of Developmental Cell Biology and Disease, School of Ophthalmology and Optometry and Eye Hospital, State Key Laboratory of Optometry, Ophthalmology, and Vision Science and Zhejiang Provincial Key Laboratory of Ophthalmology, Wenzhou Medical University, Wenzhou 325003, China.
Papers in Europe PMC - 02
- 03Zhang Y8 papers · 2025
College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Beijing, China.
Papers in Europe PMC - 04Chen K7 papers · 2023
School of Biomedical Sciences and Engineering, South China University of Technology, Guangzhou International Campus, Guangzhou, Guangdong, China.
Papers in Europe PMC - 05Li X6 papers · 2025
Department of Dermatology, Henan Provincial People's Hospital, Henan University People's Hospital, Zhengzhou, 450003, China.
Papers in Europe PMC - 06Li Y6 papers · 2025
Department of Endocrinology, Genetics and Metabolism, Affiliated Hospital of Jining Medical University, Jining, 272029, People's Republic of China.
Papers in Europe PMC - 07Chen H5 papers · 2017
Department of Otolaryngology Head and Neck Surgery, Xiangya Hospital, Central South University, Hunan, People's Republic of China.
Papers in Europe PMC - 08Li J5 papers · 2025
Laboratory of Developmental Cell Biology and Disease, School of Ophthalmology and Optometry and Eye Hospital, State Key Laboratory of Optometry, Ophthalmology, and Vision Science and Zhejiang Provincial Key Laboratory of Ophthalmology, Wenzhou Medical University, Wenzhou 325003, China.
Papers in Europe PMC - 09Li L5 papers · 2024
Laboratory of Developmental Cell Biology and Disease, School of Ophthalmology and Optometry and Eye Hospital, State Key Laboratory of Optometry, Ophthalmology, and Vision Science and Zhejiang Provincial Key Laboratory of Ophthalmology, Wenzhou Medical University, Wenzhou 325003, China.
Papers in Europe PMC - 10Li S5 papers · 2024
Department of Clinical Laboratory, Handan Central Hospital, Handan, Hebei, 056001, PR 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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
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.
Broader category Waardenburg syndrome also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: Waardenburg syndrome
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count 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.
"Waardenburg syndrome type 2" OR "Waardenburg syndrome type II"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Waardenburg syndrome type 2" OR "Waardenburg syndrome type II" OR "KITLG" OR "MITF"
Recall-expansion terms: KITLG, MITF
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Waardenburg syndrome"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: WS2
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T15:48:45.504Z