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ORPHA:530838

KRT1-related diffuse nonepidermolytic keratoderma

low confidenceDisorder

Also known as: KRT1-related diffuse NEPPK

Publications

11,396

Trials

0

Interventional, condition-specific

Researchers

1,081

Distinct authors in sample

Gene link

KRT1

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis.

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 (6)

NEPPK · diffuse nonepidermolytic palmoplantar keratoderma · diffuse palmoplantar keratoderma, Bothnian type · non-epidermolytic palmoplantar keratoderma · nonepidermolytic palmoplantar keratoderma · palmoplantar keratoderma, nonepidermolytic

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Strong — KRT1

  2. LiteraturePresent

    11,396 matched papers (7,322 in last 10 years) Source

  3. Phenotype characterisedPresent

    16 HPO annotations (e.g. Nonepidermolytic palmoplantar hyperkeratosis; Diffuse palmoplantar hyperkeratosis; Unusual fungal nail infection) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  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 (KRT1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

16

Associated phenotypes · MONDO:0010962

  • Nonepidermolytic palmoplantar hyperkeratosis
  • Diffuse palmoplantar hyperkeratosis
  • Unusual fungal nail infection
  • Atopic dermatitis
  • Concave nail

Showing 5 of 16 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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?

11,396

11,396 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

11,396 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).

7,322 in the last 10 years · low confidence

Phrase hits: 411 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,081

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
    Kelsell DP18 papers · 2024

    Centre for Cell Biology and Cutaneous Research, The Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, E1 4AT, UK. d.p.kelsell@qmul.ac.uk.

    Papers in Europe PMC
  2. 02
    McLean WH11 papers · 2014

    Dermatology and Genetic Medicine, College of Life Sciences and College of Medicine, Dentistry, and Nursing, University of Dundee, Dundee DD1 5EH, UK.

    Papers in Europe PMC
  3. 03
    Leigh IM9 papers · 2013
    Papers in Europe PMC
  4. 04
    Blaydon DC8 papers · 2024

    Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.

    Papers in Europe PMC
  5. 05
    Risk JM8 papers · 2024

    Department of Molecular & Clinical Cancer Medicine, Institute of Translational Medicine, University of Liverpool, L69 3BX, Liverpool, UK.

    Papers in Europe PMC
  6. 06
    Ellis A7 papers · 2015

    Department of Gastroenterology, Royal Liverpool University Hospital, Prescot Street, Liverpool, L7 8XP, UK.

    Papers in Europe PMC
  7. 07
    Field JK7 papers · 2024

    Department of Molecular and Clinical Cancer Medicine, Institute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool, UK.

    Papers in Europe PMC
  8. 08
    Smith FJ7 papers · 2013

    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, PA 19107, USA.

    Papers in Europe PMC
  9. 09
    Stevens HP7 papers · 2012
    Papers in Europe PMC
  10. 10
    Emi M5 papers · 2003
    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 2026-07-30

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 KRT1-related diffuse nonepidermolytic keratoderma — 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.

("KRT1-related diffuse nonepidermolytic keratoderma" OR "KRT1-related diffuse NEPPK" OR "NEPPK" OR "diffuse nonepidermolytic palmoplantar keratoderma" OR "diffuse palmoplantar keratoderma, Bothnian type" OR "non-epidermolytic palmoplantar keratoderma" OR "nonepidermolytic palmoplantar keratoderma" OR "palmoplantar keratoderma, nonepidermolytic") OR ("KRT1" OR "KRT1 syndrome" OR "KRT1-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"KRT1-related diffuse nonepidermolytic keratoderma" OR "KRT1-related diffuse NEPPK" OR "NEPPK" OR "diffuse nonepidermolytic palmoplantar keratoderma" OR "diffuse palmoplantar keratoderma, Bothnian type" OR "non-epidermolytic palmoplantar keratoderma" OR "nonepidermolytic palmoplantar keratoderma" OR "palmoplantar keratoderma, nonepidermolytic"

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

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • "diffuse palmoplantar keratoderma, Bothnian type" also appears on ORPHA:2337
  • Publication count (11396) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T18:08:52.208Z