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ORPHA:281201

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

low confidenceDisorder

Also known as: KLICK syndrome

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

9,851

Trials

0

Interventional, condition-specific

Researchers

262

Distinct authors in sample

Gene link

POMP

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.

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 (1)

keratosis linearis-ichthyosis congenita-sclerosing keratoderma 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

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 — POMP

  2. LiteraturePresent

    9,851 matched papers (4,928 in last 10 years) Source

  3. Phenotype characterisedPresent

    10 HPO annotations (e.g. Palmoplantar keratoderma; Ichthyosis; Honeycomb palmoplantar hyperkeratosis) 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 (POMP).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

10

Associated phenotypes · MONDO:0011169

  • Palmoplantar keratoderma
  • Ichthyosis
  • Honeycomb palmoplantar hyperkeratosis
  • Nail dystrophy
  • Congenital nonbullous ichthyosiform erythroderma

Showing 5 of 10 — 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?

9,851

9,851 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.

9,851 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).

4,928 in the last 10 years · low confidence

Phrase hits: 44 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

262

Distinct author names in 44 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
    Fischer J4 papers · 2021

    Institute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, DE-79106 Freiburg, Germany. judith.fischer@uniklinik-freiburg.de.

    Papers in Europe PMC
  2. 02
    Mazereeuw-Hautier J4 papers · 2018

    Reference Centre for Rare Skin Diseases, Dermatology Department, CHU Larrey, Paul Sabatier University, 24, Chemin de Pouvourville, 31400, Toulouse, Cedex 09, France.

    Papers in Europe PMC
  3. 03
    Akiyama M3 papers · 2024

    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

    Papers in Europe PMC
  4. 04
    Bourrat E3 papers · 2020

    Department of Dermatology, Reference center for rare skin diseases MAGEC, Saint Louis Hospital, Paris, France.

    Papers in Europe PMC
  5. 05
    Dreyfus I3 papers · 2018

    Reference Centre for Rare Skin Diseases, Dermatology Department, Larrey Hospital, CHU Toulouse, Toulouse, France. dreyfus.i@chu-toulouse.fr.

    Papers in Europe PMC
  6. 06
    Hartley C3 papers · 2012

    Unit of Comparative Ophthalmology, Centre for Small Animal Studies, Animal Health Trust, Lanwades Park, Kentford, Newmarket, Suffolk CB8 7UU, UK. claudia.hartley@aht.org.uk

    Papers in Europe PMC
  7. 07
    Badhai J2 papers · 2012
    Papers in Europe PMC
  8. 08
    Barnett KC2 papers · 2012
    Papers in Europe PMC
  9. 09
    Blott S2 papers · 2012
    Papers in Europe PMC
  10. 10
    Brown SJ2 papers · 2023

    Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom.

    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 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome — 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.

("Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome" OR "KLICK syndrome") OR (MESH:"Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma") OR ("POMP" OR "POMP syndrome" OR "POMP-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma

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

"Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome" OR "KLICK syndrome" OR "Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma"

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

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

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 (9851) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T11:59:53.295Z