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ORPHA:34217

Naxos disease

low confidenceDisorder

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

Publications

462

Trials

0

Interventional, condition-specific

Researchers

1,126

Distinct authors in sample

Gene link

JUP

Strong

Readiness

3/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

3/6 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.

  1. Gene identifiedPresent

    Strong — JUP

  2. LiteraturePresent

    462 matched papers (226 in last 10 years) Source

  3. Phenotype characterisedPresent

    48 HPO annotations (e.g. Arrhythmia; Cleft upper lip; Sudden cardiac death) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

48

Associated phenotypes · MONDO:0011017

  • Arrhythmia
  • Cleft upper lip
  • Sudden cardiac death
  • Paroxysmal ventricular tachycardia
  • Hyperhidrosis

Showing 5 of 48 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

462

462 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=3967) is 59.

462 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

226 in the last 10 years · low confidence

Phrase hits: 458 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Tsatsopoulou 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
  2. 02
    Asimaki 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
  3. 03
    Calkins H9 papers · 2026

    Johns Hopkins Hospital, Sheikh Zayed Tower 7125R, Baltimore, MD 21287, USA.

    Papers in Europe PMC
  4. 04
    Protonotarios A8 papers · 2026

    Institute of Cardiovascular Science, University College London, London, UK.

    Papers in Europe PMC
  5. 05
    Anastasakis 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
  6. 06
    James CA7 papers · 2025

    Division of Cardiology, Johns Hopkins University, Baltimore, Maryland, US.

    Papers in Europe PMC
  7. 07
    Saffitz JE7 papers · 2025

    Department of Pathology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts.

    Papers in Europe PMC
  8. 08
    Lazaros G6 papers · 2026

    The First Department of Cardiology, Hippokration Hospital, Athens 11526, Greece.

    Papers in Europe PMC
  9. 09
    Basso 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. 10
    Judge DP5 papers · 2025

    Medical University of South Carolina, Charleston, SC USA

    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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Naxos disease — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("JUP syndrome" OR "JUP-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; 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