ORPHA:83461
Congenital primary aphakia
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
136
58.1th percentile
Trials
0
Interventional, condition-specific
Researchers
663
Distinct authors in sample
Gene link
FOXE3
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare developmental defect during embryogenesis characterised by an absence of the lens. CPAK can be associated with variable secondary ocular defects.
How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012456
- MeSH:C537786
- OMIM:610256
- UMLS:C1853230
- NCIT:C35172
Additional Mondo synonyms (4)
anterior segment dysgenesis 2, multiple subtypes · aphakia, congenital primary · congenital absence of lens · congenital aphakia
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — FOXE3
- LiteraturePresent
136 matched papers (63 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?
Yes — we know a specific gene responsible (FOXE3).
GenCC classification: Definitive.
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?
136
136 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.
136 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).
63 in the last 10 years · high confidence · 58.1th percentile (publications denominator)
Phrase hits: 136 · MeSH hits: 0
Who's working on it?
663
Distinct author names in 136 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.
- 01Ragge NK6 papers · 2025
Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK. nragge@brookes.ac.uk.
Papers in Europe PMC - 02Ramappa M6 papers · 2025
Institute for Rare Eye Diseases and Ocular Genetics; The Cornea Institute; Jasti V Ramanamma Children's Eye Care Center, L V Prasad Eye Institute, Hyderabad, India.
Papers in Europe PMC - 03Semina EV6 papers · 2025
Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, USA. esemina@mcw.edu.
Papers in Europe PMC - 04Edward DP5 papers · 2026
King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia ; Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore MD, USA.
Papers in Europe PMC - 05Kaushik S5 papers · 2025
Advanced Eye Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India. Electronic address: sushmita_kaushik@yahoo.com.
Papers in Europe PMC - 06Nischal KK5 papers · 2025
Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Trust, London, UK. kkn@btinternet.com
Papers in Europe PMC - 07Reis LM5 papers · 2025
Department of Pediatrics and Children's Research Institute at the Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, Wisconsin 53226, USA.
Papers in Europe PMC - 08Bohnsack BL4 papers · 2026
Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, United States.
Papers in Europe PMC - 09Pandav SS4 papers · 2024
Advanced Eye Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Papers in Europe PMC - 10Ali M3 papers · 2024
Ophthalmology, Indira Gandhi Institute of Medical Sciences, Patna, IND.
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 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 2026-07-26This 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 primary aphakia" OR "anterior segment dysgenesis 2, multiple subtypes" OR "aphakia, congenital primary" OR "congenital absence of lens" OR "congenital absence of the lens" OR "congenital aphakia"
MeSH descriptor terms unioned into the query: Aphakia, congenital primary
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital primary aphakia" OR "anterior segment dysgenesis 2, multiple subtypes" OR "aphakia, congenital primary" OR "congenital absence of lens" OR "congenital absence of the lens" OR "congenital aphakia" OR "FOXE3"
Recall-expansion terms: FOXE3
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, 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 2026-07-27T02:36:35.136Z