ORPHA:293603
Congenital hereditary endothelial dystrophy type II
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
135
53th percentile
Trials
1
Interventional, condition-specific
Researchers
628
Distinct authors in sample
Gene link
SLC4A11
Strong
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009019
- MeSH:C536439
- OMIM:217700
- UMLS:C1857569
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — SLC4A11
- LiteraturePresent
135 matched papers (49 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
135
135 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.
135 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).
49 in the last 10 years · medium confidence · 53th percentile (publications denominator)
Phrase hits: 131 · MeSH hits: 6
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.
- 01Vithana EN8 papers · 2013
Singapore Eye Research Institute, 11 Third Hospital Avenue, Singapore 168751, Singapore. evithana@yahoo.co.uk
Papers in Europe PMC - 02Kannabiran C7 papers · 2023
Centre for Rare Eye Diseases and Ocular Genetics, L V Prasad Eye Institute, Hyderabad, India.
Papers in Europe PMC - 03Kurtz I7 papers · 2020
Department of Medicine, Division of Nephrology, David Geffen School of Medicine, University of California, Los Angeles, California.
Papers in Europe PMC - 04Aldave 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 - 05Bonanno JA6 papers · 2022
School of Optometry, Indiana University, Bloomington, IN.
Papers in Europe PMC - 06Aung T5 papers · 2013Papers in Europe PMC
- 07Casey JR5 papers · 2014Papers in Europe PMC
- 08
- 09Inglehearn 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 - 10Klintworth 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 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).
medium 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 2026-07-26This 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"
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" OR "SLC4A11"
Recall-expansion terms: SLC4A11
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, recall-expansion; 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
Ingested 2026-07-27T12:21:39.244Z