ORPHA:530838
KRT1-related diffuse nonepidermolytic keratoderma
Also known as: KRT1-related diffuse NEPPK
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
411
77.3th percentile
Trials
0
Interventional, condition-specific
Researchers
1,081
Distinct authors in sample
Gene link
KRT1
Strong
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010962
- OMIM:600962
- UMLS:C1833030
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.”
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 — KRT1
- LiteraturePresent
411 matched papers (183 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 (KRT1).
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?
411
411 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.
411 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).
183 in the last 10 years · medium confidence · 77.3th percentile (publications denominator)
Phrase hits: 411 · MeSH hits: 0
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.
- 01Kelsell 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 - 02McLean 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 - 03Leigh IM9 papers · 2013Papers in Europe PMC
- 04Blaydon 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 - 05Risk JM8 papers · 2024
Department of Molecular & Clinical Cancer Medicine, Institute of Translational Medicine, University of Liverpool, L69 3BX, Liverpool, UK.
Papers in Europe PMC - 06Ellis A7 papers · 2015
Department of Gastroenterology, Royal Liverpool University Hospital, Prescot Street, Liverpool, L7 8XP, UK.
Papers in Europe PMC - 07Field 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 - 08Smith FJ7 papers · 2013
Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, PA 19107, USA.
Papers in Europe PMC - 09Stevens HP7 papers · 2012Papers in Europe PMC
- 10Emi M5 papers · 2003Papers 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 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.
medium 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.
"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"
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" OR "KRT1" OR "diffuse palmoplantar keratoderma" OR "hereditary palmoplantar keratoderma"
Recall-expansion terms: KRT1, diffuse palmoplantar keratoderma, hereditary palmoplantar keratoderma
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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- "diffuse palmoplantar keratoderma, Bothnian type" also appears on ORPHA:2337
Ingested 2026-07-27T18:08:52.208Z