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ORPHA:313

Lamellar ichthyosis

medium confidenceDisorder

Also known as: LI

Publications

1,667

86.5th percentile

Trials

4

Interventional, condition-specific

Researchers

1,130

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare ichthyosis characterized by the presence of large scales all over the body without significant erythroderma.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

classic lamellar ichthyosis · congenital lamellar ichthyosis

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

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,667 matched papers (803 in last 10 years) Source

  3. Phenotype characterisedPresent

    97 HPO annotations (e.g. Hyperkeratosis; Erythroderma; Hand polydactyly) Source

  4. Animal modelPresent

    9 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 trialPresent

    4 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

97

Associated phenotypes · MONDO:0017778

  • Hyperkeratosis
  • Erythroderma
  • Hand polydactyly
  • Sudden cardiac death
  • Dehydration

Showing 5 of 97 — open Monarch for the full list.

Animal models (Monarch / Alliance)

9

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

5

Drugs / clinical candidates · MONDO_0017778

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,667

1,667 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,667 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).

803 in the last 10 years · medium confidence · 86.5th percentile (publications denominator)

Phrase hits: 1,667 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,130

Distinct author names in 200 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
    Akiyama M6 papers · 2025

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

    Papers in Europe PMC
  2. 02
    Fischer J6 papers · 2026

    Institute of Human Genetics, Medical Center - University of Freiburg, University of Freiburg, Freiburg, Germany.

    Papers in Europe PMC
  3. 03
    Takeichi T6 papers · 2025

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

    Papers in Europe PMC
  4. 04
    Bunick CG4 papers · 2026

    Department of Dermatology and Program in Translational Biomedicine, Yale School of Medicine, New Haven, CT, 06520, USA.

    Papers in Europe PMC
  5. 05
    De D4 papers · 2026

    Department of Dermatology, Venereology and Leprology, PGIMER, Chandigarh, 160012, India.

    Papers in Europe PMC
  6. 06
    Fenniche S4 papers · 2024

    Department of Dermatology, Habib Thameur Hospital, Research Unit "Genodermatoses and cancers LR12SP03", Tunis, Tunisia.

    Papers in Europe PMC
  7. 07
    Handa S4 papers · 2026

    Department of Dermatology, Venereology and Leprology, PGIMER, Chandigarh, 160012, India.

    Papers in Europe PMC
  8. 08
    Komlosi K4 papers · 2026

    Institute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Cornification Disorders, Freiburg Center for Rare Diseases, Medical Center, University of Freiburg, Freiburg, Germany.

    Papers in Europe PMC
  9. 09
    Liu Y4 papers · 2026

    Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Hospital for Skin Diseases, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China.

    Papers in Europe PMC
  10. 10
    Mahajan R4 papers · 2026

    Department of Dermatology, Venereology and Leprology, PGIMER, Chandigarh, 160012, India. drrahulpgi@yahoo.com.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

medium confidence · 88.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

4 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.

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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).

Uncertain / not reviewed (2)

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 Lamellar ichthyosis — 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.

"Lamellar ichthyosis" OR "classic lamellar ichthyosis" OR "congenital lamellar ichthyosis"

Run this search on Europe PMC

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

"Lamellar ichthyosis" OR "classic lamellar ichthyosis" OR "congenital lamellar ichthyosis"

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

Study-type breakdown: 4 interventional · 1 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: LI

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T13:21:19.078Z