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ORPHA:162

Congenital cataract-anterior segment dysgenesis syndrome

low confidenceDisorder

Also known as: Congenital cataract-ASD syndrome · Congenital cataract-ASGD syndrome · Congenital cataract-ASMD syndrome · Congenital cataract-anterior segment mesenchymal dysgenesis syndrome

Publications

3,929

Trials

1

Interventional, condition-specific

Researchers

1,014

Distinct authors in sample

Gene link

TRPM3

Limited

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic ophthalmic syndrome characterized by posterior cataract (usually bilateral) and anterior segment mesenchymal dysgenesis that can be associated with unilateral or bilateral glaucoma (either or develop at a young age). Some patients may present only with cataracts. Microcornea (sometimes bilateral), corneal opacities including posterior embryotoxon, iris atrophy/iridocorneal adhesions and nystagmus are reported as additional clinical features in some patients.

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 (1)

cataract - glaucoma

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.

  1. Gene identifiedPresent

    Limited — TRPM3

  2. LiteraturePresent

    3,929 matched papers (2,588 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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?

Possibly — only limited evidence so far for TRPM3.

GenCC classification: Limited.

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?

3,929

3,929 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=5449) is 41.

3,929 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).

2,588 in the last 10 years · low confidence

Phrase hits: 3,929 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,014

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
    Morya AK15 papers · 2026

    Cataract, Glaucoma, Refractive, Squint, Paediatric Ophthalmology and Medical Retina Services, Department of Ophthalmology, All India Institute of Medical Sciences, Bibinagar, Hyderabad, Telangana, India.

    Papers in Europe PMC
  2. 02
    Bejjenki P5 papers · 2023

    All India Institute of Medical Sciences, Bibinagar, Telangana, India.

    Papers in Europe PMC
  3. 03
    Nishant P5 papers · 2024

    Department of Ophthalmology, All India Institute of Medical Sciences, Patna, Bihar, India.

    Papers in Europe PMC
  4. 04
    Sinha S5 papers · 2024

    Department of Ophthalmology, Patna Medical College, Patna, Bihar, India.

    Papers in Europe PMC
  5. 05
    Gurnani B4 papers · 2023

    Consultant Cornea, External Disease, Trauma, Ocular Surface and Refractive Surgery, Dr. Om Parkash Eye Institute, Amritsar, Punjab, India.

    Papers in Europe PMC
  6. 06
    Kaur K4 papers · 2023

    Pediatric Ophthalmology and Strabismus, Dr. Om Parkash Eye Institute, Amritsar, Punjab, India.

    Papers in Europe PMC
  7. 07
    Li J4 papers · 2026

    Institute of Psychology, Chinese Academy of Sciences, Beijing, China.

    Papers in Europe PMC
  8. 08
    Li Y4 papers · 2026

    Department of Cardiology, Beijing Hospital, National Center of Gerontology, Institute of Geriatric medicine, Chinese Academy of Medical Sciences, No. 1 Dongdan Dahua Road, Dongcheng District, Beijing, 100730, China.

    Papers in Europe PMC
  9. 09
    Liu D4 papers · 2026

    Department of Cardiology, Beijing Hospital, National Center of Gerontology, Institute of Geriatric medicine, Chinese Academy of Medical Sciences, No. 1 Dongdan Dahua Road, Dongcheng District, Beijing, 100730, China. lliudeping@263.net.

    Papers in Europe PMC
  10. 10
    Sinha A4 papers · 2026

    Specialty Doctor Ophthalmology, Worcestershire Acute Hospitals NHS Trust, Worcester WR5 1DD, United Kingdom.

    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).

low 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.

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched 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 2026-07-26

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 cataract-anterior segment dysgenesis syndrome" OR "Congenital cataract-ASD syndrome" OR "Congenital cataract-ASGD syndrome" OR "Congenital cataract-ASMD syndrome" OR "Congenital cataract-anterior segment mesenchymal dysgenesis syndrome" OR "cataract - glaucoma"

Run this search on Europe PMC

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

"Congenital cataract-anterior segment dysgenesis syndrome" OR "Congenital cataract-ASD syndrome" OR "Congenital cataract-ASGD syndrome" OR "Congenital cataract-ASMD syndrome" OR "Congenital cataract-anterior segment mesenchymal dysgenesis syndrome" OR "cataract - glaucoma" OR "TRPM3"

Recall-expansion terms: TRPM3

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

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

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
  • Publication count (3929) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T12:42:30.896Z