ORPHA:34217
Naxos disease
Also known as: KWWH type I · Keratoderma with woolly hair type I · Keratosis palmoplantaris with arrythmogenic cardiomyopathy · Naxos syndrome · Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy · Palmoplantar keratoderma with arrythmogenic cardiomyopathy
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
458
Trials
0
Interventional, condition-specific
Researchers
1,126
Distinct authors in sample
Gene link
JUP
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare arrhythmogenic right ventricular (ARVC) and a cutaneous , characterized by peculiar woolly hair and palmoplantar keratoderma.
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:0011017
- MeSH:C538346
- OMIM:601214
- UMLS:C1832600
Additional Mondo synonyms (7)
NAXOS disease · NXD · keratoderma with woolly hair type I · keratoderma with wooly hair type I · keratosis palmoplantaris with arrythmogenic cardiomyopathy · palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy · palmoplantar keratoderma with arrythmogenic cardiomyopathy
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
Strong — JUP
- LiteraturePresent
458 matched papers (223 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 (JUP).
GenCC classification: Strong.
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?
458
458 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.
458 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).
223 in the last 10 years · low confidence
Phrase hits: 458 · MeSH hits: 0
Who's working on it?
1,126
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.
- 01Tsatsopoulou A13 papers · 2026
From the Department of Pathology, Beth Israel Deaconess Medical Center & Harvard Medical School, Boston, MA (A. Asimaki, A.G.K., J.E.S.); Nikos Protonotarios Medical Center, Naxos, Greece (A.P., A.T.); Department of Medicine/Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD (C.A.J., S.P.C., C.T., B.M., A.t.R., D.P.J., H.C.); and First Department of Cardiology, University of Athens Medical School, Athens, Greece (A. Anastasakis).
Papers in Europe PMC - 02Asimaki A10 papers · 2026
Cardiovascular Academic and Clinical Academic Group and Cardiology Research Centre, Molecular and Clinical Sciences Research Group, St. George's, University of London, United Kingdom.
Papers in Europe PMC - 03Calkins H9 papers · 2026
Johns Hopkins Hospital, Sheikh Zayed Tower 7125R, Baltimore, MD 21287, USA.
Papers in Europe PMC - 04Protonotarios A8 papers · 2026
Institute of Cardiovascular Science, University College London, London, UK.
Papers in Europe PMC - 05Anastasakis A7 papers · 2026
From the Department of Pathology, Beth Israel Deaconess Medical Center & Harvard Medical School, Boston, MA (A. Asimaki, A.G.K., J.E.S.); Nikos Protonotarios Medical Center, Naxos, Greece (A.P., A.T.); Department of Medicine/Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD (C.A.J., S.P.C., C.T., B.M., A.t.R., D.P.J., H.C.); and First Department of Cardiology, University of Athens Medical School, Athens, Greece (A. Anastasakis).
Papers in Europe PMC - 06James CA7 papers · 2025
Division of Cardiology, Johns Hopkins University, Baltimore, Maryland, US.
Papers in Europe PMC - 07Saffitz JE7 papers · 2025
Department of Pathology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts.
Papers in Europe PMC - 08Lazaros G6 papers · 2026
The First Department of Cardiology, Hippokration Hospital, Athens 11526, Greece.
Papers in Europe PMC - 09Basso C5 papers · 2026
Cardiovascular Pathology Unit, Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua Medical School, Via A. Gabelli, 61 35121 Padova, Italy.
Papers in Europe PMC - 10
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.
low 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.
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.
"Naxos disease" OR "KWWH type I" OR "Keratoderma with woolly hair type I" OR "Keratosis palmoplantaris with arrythmogenic cardiomyopathy" OR "Naxos syndrome" OR "Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy" OR "Palmoplantar keratoderma with arrythmogenic cardiomyopathy" OR "keratoderma with wooly hair type I"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Naxos disease" OR "KWWH type I" OR "Keratoderma with woolly hair type I" OR "Keratosis palmoplantaris with arrythmogenic cardiomyopathy" OR "Naxos syndrome" OR "Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy" OR "Palmoplantar keratoderma with arrythmogenic cardiomyopathy" OR "keratoderma with wooly hair type I" OR "JUP"
Recall-expansion terms: JUP
Study-type breakdown: 0 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
Synonyms dropped by stoplist: NXD
Confidence reasoning
- Preferred label is short or not clearly distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T23:39:51.451Z