ORPHA:2698
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Also known as: Bart-Pumphrey syndrome · Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome · Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome · Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome
Publications
100
55.4th percentile
Trials
1
Interventional, condition-specific
Researchers
544
Distinct authors in sample
Gene link
GJB2
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, syndromic genetic deafness disease characterized by symmetric or asymmetric knuckle pads (typically located on the distal and interphalangeal joints), leukonychia, diffuse palmoplantar keratoderma, and , mild to moderate sensorineural deafness.
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:0007866
- MeSH:C537210
- OMIM:149200
- UMLS:C0266004
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 — GJB2
- LiteraturePresent
100 matched papers (56 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
1 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?
Yes — we know a specific gene responsible (GJB2).
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?
100
100 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.
100 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).
56 in the last 10 years · high confidence · 55.4th percentile (publications denominator)
Phrase hits: 100 · MeSH hits: 0
Who's working on it?
544
Distinct author names in 100 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.
- 01White TW8 papers · 2019
Department of Physiology and Biophysics, Stony Brook University, Stony Brook, New York, USA. Electronic address: thomas.white@stonybrook.edu.
Papers in Europe PMC - 02Laird DW7 papers · 2023
Department of Anatomy and Cell Biology, University of Western Ontario, London, Ontario, Canada N6A 5C1. dale.laird@schulich.uwo.ca
Papers in Europe PMC - 03Shao Q5 papers · 2023
Department of Anatomy and Cell Biology, Schulich School of Medicine & Dentistry, University of Western Ontario, London, ON, Canada.
Papers in Europe PMC - 04Li L4 papers · 2023
BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.
Papers in Europe PMC - 05Wang Y4 papers · 2024
Center for Medical Genetics, Gansu Provincial Maternity and Child Health Hospital, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, China.
Papers in Europe PMC - 06Chen Y3 papers · 2023
Department of Otorhinolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University, Shanghai, China.
Papers in Europe PMC - 07Liu Y3 papers · 2025
Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.
Papers in Europe PMC - 08
- 09Bazazzadegan N2 papers · 2016
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Papers in Europe PMC - 10Daneshi A2 papers · 2016
Head and Neck Surgery Department and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07627971·RECRUITING·Open-label Study of SKY-GJB2 in Pediatric Subjects With GJB2-mediated Hearing Loss
Conditions: GJB2-mediated Hearing Loss · GJB2 Gene Mutation · DFNB1A·Matched via recall expansion
Observational and natural-history studies
3 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
- NCT05402813·RECRUITING·Natural History in Children up to 16 Years With Mild to Profound Hearing Loss Due to Mutations in GJB2 / OTOF Genes
Conditions: Sensorineural Hearing Loss, Bilateral · AUNB1 · DFNB1A · Congenital Deafness·Matched via recall expansion
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.
"Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome" OR "Bart-Pumphrey syndrome" OR "Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome" OR "Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome" OR "Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome" OR "Bart-Pumphrey syndrome" OR "Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome" OR "Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome" OR "Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome" OR "GJB2"
Recall-expansion terms: GJB2
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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 2026-07-26T20:53:09.920Z