ORPHA:2202
Palmoplantar keratoderma-deafness syndrome
Also known as: PPK-deafness syndrome · Palmoplantar hyperkeratosis-deafness syndrome · Palmoplantar hyperkeratosis-hearing loss syndrome · Palmoplantar keratoderma-hearing loss syndrome
Publications
319
76.2th percentile
Trials
1
Interventional, condition-specific
Researchers
1,258
Distinct authors in sample
Gene link
GJB2
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous . The disease is transmitted in an manner with incomplete penetrance.
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:0007852
- MeSH:C536152
- OMIM:148350
- UMLS:C1835672
Additional Mondo synonyms (4)
palmoplantar hyperkeratosis-deafness syndrome · palmoplantar hyperkeratosis-hearing loss syndrome · palmoplantar keratoderma and sensorineural deafness · palmoplantar keratoderma-hearing loss 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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — GJB2
- LiteraturePresent
319 matched papers (172 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?
319
319 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.
319 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).
172 in the last 10 years · medium confidence · 76.2th percentile (publications denominator)
Phrase hits: 319 · MeSH hits: 0
Who's working on it?
1,258
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.
- 01Finsterer J4 papers · 2025
Krankenanstalt Rudolfstiftung, Vienna, Austria. duarte@aonmail.at
Papers in Europe PMC - 02Wang Y4 papers · 2023
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 - 03Wonkam A4 papers · 2022
Division of Human Genetics, Department of Pathology, University of Cape Town, Cape Town 7925, South Africa.
Papers in Europe PMC - 04Harrison LR3 papers · 2022
University of Kentucky Veterinary Diagnostic Laboratory, Lexington, KY, United States.
Papers in Europe PMC - 05Huang S3 papers · 2023
Department of Genetics, Yale School of Medicine, New Haven, USA.
Papers in Europe PMC - 06Liu X3 papers · 2026
Department of Endocrinology, Xuzhou Central Hospital, Xuzhou, China.
Papers in Europe PMC - 07Oluwole OG3 papers · 2022
Division of Human Genetics, Department of Pathology, University of Cape Town, Cape Town 7925, South Africa.
Papers in Europe PMC - 08Sun D3 papers · 2025
Department of Pediatric Neurology, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Papers in Europe PMC - 09Uitto J3 papers · 2022
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Papers in Europe PMC - 10Youssefian L3 papers · 2022
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
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).
medium 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.
"Palmoplantar keratoderma-deafness syndrome" OR "PPK-deafness syndrome" OR "Palmoplantar hyperkeratosis-deafness syndrome" OR "Palmoplantar hyperkeratosis-hearing loss syndrome" OR "Palmoplantar keratoderma-hearing loss syndrome" OR "palmoplantar keratoderma and sensorineural deafness"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Palmoplantar keratoderma-deafness syndrome" OR "PPK-deafness syndrome" OR "Palmoplantar hyperkeratosis-deafness syndrome" OR "Palmoplantar hyperkeratosis-hearing loss syndrome" OR "Palmoplantar keratoderma-hearing loss syndrome" OR "palmoplantar keratoderma and sensorineural deafness" 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
- Publication count (319) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-26T19:27:23.491Z