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ORPHA:91490

Isolated congenital sclerocornea

high confidenceDisorder

Publications

717

79th percentile

Trials

0

Interventional, condition-specific

Researchers

1,054

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare corneal disorder characterized by non-inflammatory, non-, bilateral ingrowth of vascularized, opaque scleral tissue into the peripheral cornea, obliterating the corneoscleral limbus and scleral sulcus. The condition is not associated with other ocular abnormalities.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

isolated congenital sclerocornea · sclerocornea · sclerocornea (disease)

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

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    717 matched papers (352 in last 10 years) Source

  3. Phenotype characterisedPresent

    11 HPO annotations (e.g. Corneal opacity; Microcornea; Cataract) Source

  4. Animal modelPresent

    2 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 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?

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

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

Phenotypes (Monarch / HPO)

11

Associated phenotypes · MONDO:0019629

  • Corneal opacity
  • Microcornea
  • Cataract
  • Iris coloboma
  • Sclerocornea

Showing 5 of 11 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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

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?

717

717 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.

717 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).

352 in the last 10 years · high confidence · 79th percentile (publications denominator)

Phrase hits: 717 · MeSH hits: 15

Open Europe PMC search

Who's working on it?

1,054

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.

  1. 01
    Reis LM11 papers · 2025

    Department of Pediatrics and Children's Research Institute at the Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, WI.

    Papers in Europe PMC
  2. 02
    Semina EV11 papers · 2025

    Department of Pediatrics and Children's Research Institute at the Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, WI; Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, WI; Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, WI.

    Papers in Europe PMC
  3. 03
    Chu WK5 papers · 2024

    Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Hong Kong; Shantou University/Chinese University of Hong Kong Joint Shantou International Eye Center, Shantou, China.

    Papers in Europe PMC
  4. 04
    Kaushik S5 papers · 2025

    Department of Ophthalmology, Post Graduate Institute of Medical Education and Research, Chandigarh, India sushmita_kaushik@yahoo.com.

    Papers in Europe PMC
  5. 05
    Ramappa M5 papers · 2025

    Tej Kohli Cornea Institute; Jasti V Ramanamma Children's Eye Care Center, Hyderabad, India.

    Papers in Europe PMC
  6. 06
    Singh A5 papers · 2026

    Department of Ophthalmology, AIIMS, Rishikesh, Uttarakhand, India.

    Papers in Europe PMC
  7. 07
    Zhang BN5 papers · 2024

    Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Hong Kong. Electronic address: waikit@cuhk.edu.hk.

    Papers in Europe PMC
  8. 08
    Bardakjian T4 papers · 2025

    Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, PA 19141, USA.

    Papers in Europe PMC
  9. 09
    Kaur A4 papers · 2023

    Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.

    Papers in Europe PMC
  10. 10
    Liu Y4 papers · 2020

    Department of Ophthalmology, The First Hospital of Lanzhou University, Chengguan District, Lanzhou, China.

    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.

high 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 Isolated congenital sclerocornea — 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.

"Isolated congenital sclerocornea" OR "sclerocornea" OR "sclerocornea (disease)"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Sclerocornea

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

"Isolated congenital sclerocornea" OR "sclerocornea" OR "sclerocornea (disease)"

Study-type breakdown: 0 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

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 2026-07-27T04:03:17.673Z