ORPHA:98975

Congenital hereditary endothelial dystrophy type I

high confidenceDisorder

Also known as: Autosomal dominant CHED · Autosomal dominant congenital hereditary endothelial dystrophy · CHED1 · CHEDI · Congenital hereditary endothelial dystrophy type 1

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

198

67.8th percentile

Trials

Interventional, condition-specific

Researchers

996

Distinct authors in sample

Gene link

—

Readiness

1/6

Stages with a signal

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

autosomal dominant CHED · autosomal dominant congenital hereditary endothelial dystrophy · congenital hereditary endothelial dystrophy type 1

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.”

1/6 stages with a signal

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

Gene identifiedNot found
No GenCC disease–gene assertion in this build
LiteraturePresent
198 matched papers (108 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 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)

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?

198

198 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.

198 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).

108 in the last 10 years · high confidence · 67.8th percentile (publications denominator)

Phrase hits: 198 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

996

Distinct author names in 198 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.

01
Che D10 papers · 2026
Department of Clinical Biological Resource Bank, Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Papers in Europe PMC
02
Gu X9 papers · 2026
Department of Clinical Biological Resource Bank, Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Papers in Europe PMC
03
Pi L9 papers · 2026
Department of Clinical Biological Resource Bank, Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Papers in Europe PMC
04
Malami S8 papers · 2024
Department of Pharmacology and Therapeutics, Bayero University, Kano, Nigeria.
Papers in Europe PMC
05
Fu L7 papers · 2026
Department of Clinical Biological Resource Bank, Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Papers in Europe PMC
06
Lu Z7 papers · 2026
The School of Biomedical and Pharmaceutical Sciences, Guangdong University of Technology, Guangzhou, Guangdong, China.
Papers in Europe PMC
07
Xu Y7 papers · 2022
Department of Clinical Biological Resource Bank, Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Papers in Europe PMC
08
Zhou H7 papers · 2026
Department of Clinical Biological Resource Bank, Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Papers in Europe PMC
09
Bala AA6 papers · 2023
Department of Pharmacology, College of Medicine and Health Sciences, Federal University Dutse, Dutse, Jigawa 7200234, Nigeria, Department of Pharmacology and Therapeutics, Bayero University, Kano, Nigeria.
Papers in Europe PMC
10
Habib AG6 papers · 2025
College of Health of Sciences, Bayero University, Kano, Nigeria.
Papers in Europe PMC

Clinical research

Is a treatment being tested?

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 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th 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.

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 2026-07-26

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 I" OR "Autosomal dominant CHED" OR "Autosomal dominant congenital hereditary endothelial dystrophy" OR "CHED1" OR "CHEDI" OR "Congenital hereditary endothelial dystrophy type 1"

Run this search on Europe PMC

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

"Congenital hereditary endothelial dystrophy type I" OR "Autosomal dominant CHED" OR "Autosomal dominant congenital hereditary endothelial dystrophy" OR "CHED1" OR "CHEDI" OR "Congenital hereditary endothelial dystrophy type 1" OR "posterior corneal dystrophy"

Recall-expansion terms: posterior corneal dystrophy

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

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 2026-07-27T05:50:15.881Z