RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:88621

Ichthyosis-prematurity syndrome

low confidenceDisorder

Also known as: Congenital ichthyosis type 4 · IPS

Publications

4,805

Trials

2

Interventional, condition-specific

Researchers

1,631

Distinct authors in sample

Gene link

SLC27A4

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare, syndromic ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

congenital ichthyosis type 4 · ichthyosis prematurity syndrome · idiopathic pneumonia 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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — SLC27A4

  2. LiteraturePresent

    4,805 matched papers (2,608 in last 10 years) Source

  3. Phenotype characterisedPresent

    20 HPO annotations (e.g. Premature birth; Increased total eosinophil count; Neonatal respiratory distress) 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 trialPresent

    2 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 (SLC27A4).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

20

Associated phenotypes · MONDO:0012089

  • Premature birth
  • Increased total eosinophil count
  • Neonatal respiratory distress
  • Desquamation of skin soon after birth
  • Ichthyosis

Showing 5 of 20 — 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

1

Drugs / clinical candidates · MONDO_0012089

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

4,805

4,805 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.

4,805 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).

2,608 in the last 10 years · low confidence

Phrase hits: 3,874 · MeSH hits: 3

Open Europe PMC search

Who's working on it?

1,631

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
    Bergeron A8 papers · 2026

    Pneumology Department, Geneva University Hospitals, University of Geneva, Geneva, Switzerland.

    Papers in Europe PMC
  2. 02
    Khnykin D7 papers · 2021

    Department of Pathology and Centre of Immune Regulation, Oslo University Hospital-Rikshospitalet and University of Oslo, Oslo, Norway.

    Papers in Europe PMC
  3. 03
    Shanthikumar S6 papers · 2026

    Respiratory and Sleep Medicine, Royal Children's Hospital, Melbourne, Australia; Respiratory Diseases, Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia. Electronic address: shivanthan.shanthikumar@rch.org.au.

    Papers in Europe PMC
  4. 04
    Berra G5 papers · 2026

    Latner Thoracic Research Laboratories, Toronto General Hospital Research Institute, Toronto, Ontario, Canada; Toronto Lung Transplant Program, Ajmera Transplant Centre, University Health Network, Toronto, Ontario, Canada; Service de Pneumologie, Département de Médecine, Hôpitaux Universitaires de Genève, Geneva, Switzerland.

    Papers in Europe PMC
  5. 05
    Chen Y5 papers · 2026

    Department of Haematology Singapore General Hospital Singapore Singapore.

    Papers in Europe PMC
  6. 06
    Fischer J5 papers · 2022

    Institute of Human Genetics, University Medical Centre, Freiburg, Germany.

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

    Division of Lung Transplantation, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom.

    Papers in Europe PMC
  8. 08
    Cheng GS4 papers · 2025

    Department of Medicine, University of Washington, 1959 NE Pacific St, Seattle, WA, 98195, USA.

    Papers in Europe PMC
  9. 09
    Cheng PC4 papers · 2026

    Division of Pediatric Pulmonology, Allergy, and Sleep Medicine, Riley Hospital for Children, Indianapolis, IN, USA; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA.

    Papers in Europe PMC
  10. 10
    Davies SM4 papers · 2026

    Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

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

Data as of 11 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 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.

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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).

Uncertain / not reviewed (1)

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 Ichthyosis-prematurity 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.

("Ichthyosis-prematurity syndrome" OR "Congenital ichthyosis type 4" OR "ichthyosis prematurity syndrome" OR "idiopathic pneumonia syndrome") OR (MESH:"Ichthyosis prematurity syndrome") OR ("SLC27A4" OR "SLC27A4 syndrome" OR "SLC27A4-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Ichthyosis prematurity syndrome

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

"Ichthyosis-prematurity syndrome" OR "Congenital ichthyosis type 4" OR "ichthyosis prematurity syndrome" OR "idiopathic pneumonia syndrome"

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: 2 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: IPS

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
  • Publication count (4805) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T03:22:45.782Z