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ORPHA:293603

Congenital hereditary endothelial dystrophy type II

low confidenceDisorder

Also known as: Autosomal recessive CHED · Autosomal recessive congenital hereditary endothelial dystrophy · CHED2 · CHEDII · Congenital hereditary endothelial dystrophy type 2 · Infantile hereditary endothelial dystrophy · Maumenee corneal dystrophy

Publications

1,043

Trials

1

Interventional, condition-specific

Researchers

628

Distinct authors in sample

Gene link

SLC4A11

Strong

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

endothelial II (CHED II) is a rare subtype of posterior corneal characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.

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 (7)

CHED · autosomal recessive CHED · autosomal recessive congenital hereditary endothelial dystrophy · congenital hereditary endothelial dystrophy of cornea · congenital hereditary endothelial dystrophy type 2 · corneal endothelial dystrophy, autosomal recessive · infantile hereditary endothelial dystrophy

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — SLC4A11

  2. LiteraturePresent

    1,043 matched papers (730 in last 10 years) Source

  3. Phenotype characterisedPresent

    13 HPO annotations (e.g. Opacification of the corneal stroma; Corneal dystrophy; Abnormal Descemet membrane morphology) 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 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 (SLC4A11).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

13

Associated phenotypes · MONDO:0009019

  • Opacification of the corneal stroma
  • Corneal dystrophy
  • Abnormal Descemet membrane morphology
  • Increased corneal thickness
  • Blurred vision

Showing 5 of 13 — 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?

1,043

1,043 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.

1,043 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).

730 in the last 10 years · low confidence

Phrase hits: 131 · MeSH hits: 6

Open Europe PMC search

Who's working on it?

628

Distinct author names in 135 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
    Vithana EN8 papers · 2013

    Singapore Eye Research Institute, 11 Third Hospital Avenue, Singapore 168751, Singapore. evithana@yahoo.co.uk

    Papers in Europe PMC
  2. 02
    Kannabiran C7 papers · 2023

    Centre for Rare Eye Diseases and Ocular Genetics, L V Prasad Eye Institute, Hyderabad, India.

    Papers in Europe PMC
  3. 03
    Kurtz I7 papers · 2020

    Department of Medicine, Division of Nephrology, David Geffen School of Medicine, University of California, Los Angeles, California.

    Papers in Europe PMC
  4. 04
    Aldave AJ6 papers · 2015

    The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA. aldave@jsei.ucla.edu

    Papers in Europe PMC
  5. 05
    Bonanno JA6 papers · 2022

    School of Optometry, Indiana University, Bloomington, IN.

    Papers in Europe PMC
  6. 06
    Aung T5 papers · 2013
    Papers in Europe PMC
  7. 07
    Casey JR5 papers · 2014
    Papers in Europe PMC
  8. 08
    Chaurasia S5 papers · 2023

    Tej Kohli Cornea Institute, LVPEI, Hyderabad, India.

    Papers in Europe PMC
  9. 09
    Inglehearn CF5 papers · 2025

    Division of Molecular Medicine, Leeds Institute of Medical Research, St. James's University Hospital, University of Leeds, Leeds, UK.

    Papers in Europe PMC
  10. 10
    Klintworth GK5 papers · 2011

    Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, USA. klint001@mc.duke.edu

    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 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th 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.

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 Congenital hereditary endothelial dystrophy type II — 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.

("Congenital hereditary endothelial dystrophy type II" OR "Autosomal recessive CHED" OR "Autosomal recessive congenital hereditary endothelial dystrophy" OR "CHED2" OR "CHEDII" OR "Congenital hereditary endothelial dystrophy type 2" OR "Infantile hereditary endothelial dystrophy" OR "Maumenee corneal dystrophy" OR "congenital hereditary endothelial dystrophy of cornea" OR "congenital hereditary endothelial dystrophy of the cornea" OR "corneal endothelial dystrophy, autosomal recessive") OR (MESH:"Corneal endothelial dystrophy type 2") OR ("SLC4A11" OR "SLC4A11 syndrome" OR "SLC4A11-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Corneal endothelial dystrophy type 2

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

"Congenital hereditary endothelial dystrophy type II" OR "Autosomal recessive CHED" OR "Autosomal recessive congenital hereditary endothelial dystrophy" OR "CHED2" OR "CHEDII" OR "Congenital hereditary endothelial dystrophy type 2" OR "Infantile hereditary endothelial dystrophy" OR "Maumenee corneal dystrophy" OR "congenital hereditary endothelial dystrophy of cornea" OR "congenital hereditary endothelial dystrophy of the cornea" OR "corneal endothelial dystrophy, autosomal recessive" OR "Corneal endothelial dystrophy type 2"

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: 1 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: CHED

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 (1043) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T12:21:39.244Z