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ORPHA:281201

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

high confidenceDisorder

Also known as: KLICK syndrome

Publications

44

39.4th percentile

Trials

1

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — POMP

  2. LiteraturePresent

    44 matched papers (23 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

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)

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?

44

44 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.

44 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).

23 in the last 10 years · high confidence · 39.4th percentile (publications denominator)

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?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  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?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

high confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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 2026-07-26

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"

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" OR "POMP"

Recall-expansion terms: POMP

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion

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

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