ORPHA:247794
Juvenile cataract-microcornea-renal glucosuria syndrome
Also known as: Juvenile cataract-microcornea-renal glycosuria syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
402
74.9th percentile
Trials
0
Interventional, condition-specific
Researchers
35
Distinct authors in sample
Gene link
SLC16A12
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012786
- MeSH:C567434
- OMIM:612018
- UMLS:C4310806
Additional Mondo synonyms (2)
cataract 47, juvenile, with microcornea · juvenile cataract-microcornea-renal glucosuria syndrome
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
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
Strong — SLC16A12
- LiteraturePresent
402 matched papers (291 in last 10 years) Source
- Phenotype characterisedPresent
3 HPO annotations (e.g. Cataract; Microcornea; Glycosuria) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (SLC16A12).
GenCC classification: Strong.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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?
402
402 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=3967) is 59.
402 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).
291 in the last 10 years · medium confidence · 74.9th percentile (publications denominator)
Phrase hits: 1 · MeSH hits: 0
Who's working on it?
35
Distinct author names in 1 sampled paper — 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.
- 01Bailey-Wilson JE1 paper · 2023
Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD, USA. jebw@mail.nih.gov.
Papers in Europe PMC - 02Biino G1 paper · 2023
Institute of Molecular Genetics, National Research Council of Italy, Pavia, Italy.
Papers in Europe PMC - 03Cheng CY1 paper · 2023
Centre for Quantitative Medicine, DUKE-National University of Singapore, Singapore, Singapore.
Papers in Europe PMC - 04Cowan CS1 paper · 2023
Institute for Molecular and Clinical Ophthalmology Basel, Basel, Switzerland.
Papers in Europe PMC - 05Duggal P1 paper · 2023
The Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA.
Papers in Europe PMC - 06Haarman AEG1 paper · 2023
Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.
Papers in Europe PMC - 07Haller T1 paper · 2023
Estonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.
Papers in Europe PMC - 08Hammond CJ1 paper · 2023
Department of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Papers in Europe PMC - 09Hayward C1 paper · 2023
MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital, Edinburgh, UK.
Papers in Europe PMC - 10Hysi PG1 paper · 2023
Department of Twin Research and Genetic Epidemiology, King's College London, London, UK.
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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
medium confidence · 38.6th 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.
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 53 · after dedupe 52 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 52 · 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).
Uncertain / not reviewed (52)
- ctis·2026-525611-13-00·Authorised·Treatment strategies for juvenile idiopathic arthritis patients with sustained inactive disease: A phase 4, multicentre, randomised trial comparing maintenance versus tapered TNF alpha inhibitor monotherapy - the Treat-JIA trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-521145-24-01·Authorised·A Phase 1/2, Open-Label Study to Evaluate the Safety and Efficacy of Autologous CD19-specific Chimeric Antigen Receptor T cells (CABA-201) in Subjects with Active Idiopathic Inflammatory Myopathy or Active Juvenile Idiopathic Inflammatory Myopathy
skipped — LLM skipped (--skip-llm)
- ctis·2024-511593-70-00·Authorised, recruiting·Multicenter, open-label study to evaluate the safety, tolerability, pharmacokinetics, and efficacy of filgotinib in children and adolescents from 8 years to less than 18 years of age with polyarticular-course juvenile idiopathic arthritis
skipped — LLM skipped (--skip-llm)
- ctis·2025-522567-15-00·Authorised, ongoing·A Phase 3, Randomized, Multicenter, Double-Blind, Placebo-Controlled Trial to Evaluate the Efficacy, Safety, Tolerability, and Pharmacokinetics of Zasocitinib in Pediatric Participants Aged 4 to Less Than 18 Years With Moderate-to-Severe Plaque Psoriasis
skipped — LLM skipped (--skip-llm)
- ctis·2025-523239-21-00·Authorised, ongoing·Open Label Extension (OLE), multiple dose study to evaluate pharmacokinetics, safety, tolerability and efficacy of filgotinib in children and adolescents from 8 years to less than 18 years of age with juvenile idiopathic arthritis (JIA).
skipped — LLM skipped (--skip-llm)
- ctis·2025-520923-25-00·Authorised·Trial of Sequential Medications AfteR TNFi Failure in Juvenile Idiopathic Arthritis (SMART-JIA)
skipped — LLM skipped (--skip-llm)
- ctis·2025-522921-37-00·Cancelled·An open-label, randomized, single-dose, two-period, two-treatment, crossover bioequivalence study with GP-IMP-001 in healthy male volunteers under fasting conditions.
skipped — LLM skipped (--skip-llm)
- ctis·2024-518191-31-00·Authorised·Vaccination against respiratory syncytial virus in patients with inflammatory rheumatic diseases. The impact of anti-rheumatic treatments on the RSV immune response.
skipped — LLM skipped (--skip-llm)
- ctis·2024-517262-41-00·Authorised, ongoing·A Phase 3, Multicenter, Double-blind, Placebo-controlled, Randomized Withdrawal Trial to Evaluate the Efficacy, Safety, and Pharmacokinetics of Deucravacitinib in Children and Adolescents from 5 to less than 18 Years of Age with Active Juvenile Psoriatic Arthritis
skipped — LLM skipped (--skip-llm)
- ctis·2024-515778-28-00·Authorised, ongoing·18-month double-blind, randomized, placebo-controlled, multicenter, Phase 3 study to evaluate the safety and efficacy of oral nizubaglustat (AZ-3102) in late-infantile and juvenile forms of Niemann-Pick type C disease and in late-infantile and juvenile-onset forms of GM1 gangliosidosis or GM2 gangliosidosis
skipped — LLM skipped (--skip-llm)
- ctis·2024-518269-92-00·Authorised·Effects and health economic aspects of enzyme therapy in children and adults with Pompe disease; Long-term follow-up of patients receiving commercially available Myozyme
skipped — LLM skipped (--skip-llm)
- ctis·2024-518684-35-00·Authorised·Biomarker-guided treatment-and-stop-strategy for recombinant IL-1receptor antagonist (anakinra) in patients with systemic Juvenile Idiopathic Arthritis
skipped — LLM skipped (--skip-llm)
- ctis·2024-518622-32-00·Cancelled·ESONIA - The evaluation of efficacy and safety of Nebivolol in the treatment of arterial hypertension in adolescents.
skipped — LLM skipped (--skip-llm)
- ctis·2023-508558-25-01·Authorised, ongoing·Tolerogenic dendritic cell therapy in type 1 diabetes; a phase 1b safety and immunological effecitivity study
skipped — LLM skipped (--skip-llm)
- ctis·2024-514732-24-00·Authorised, recruiting·Toward personalized medicine to guide drug withdrawal in children with juvenile idiopathic arthritis in clinical remission: a randomized clinical trial comparing early versus late drug withdrawal combining imaging and multi-Omics.
skipped — LLM skipped (--skip-llm)
- ctis·2024-518215-18-00·Authorised, ongoing·An open-label, single-center, exploratory study of the safety and efficacy of avalglucosidase alfa in patients with non-classic Pompe disease aged ≥ 5 years.
skipped — LLM skipped (--skip-llm)
- ctis·2023-508845-41-00·Authorised, ongoing·OPEN-LABEL, SINGLE-ARM TRIAL TO EVALUATE THE PHARMACOKINETICS AND SAFETY OF BIMEKIZUMAB IN PEDIATRIC STUDY PARTICIPANTS FROM 2 TO LESS THAN 18 YEARS OF AGE WITH ACTIVE JUVENILE IDIOPATHIC ARTHRITIS SUBTYPES ENTHESITIS-RELATED ARTHRITIS (INCLUDING JUVENILE-ONSET ANKYLOSING SPONDYLITIS) AND JUVENILE PSORIATIC ARTHRITIS
skipped — LLM skipped (--skip-llm)
- ctis·2024-516153-52-00·Cancelled·A Two-cohort, Open-label, Single-arm, Multicenter Study to Evaluate Efficacy, Safety and Tolerability, Pharmacokinetics and Pharmacodynamics of Emapalumab in Children and Adults with Macrophage Activation Syndrome (MAS) in Still's Disease (Including Systemic Juvenile Idiopathic Arthitis and Adult Onset Still's Disease) or with MAS in Systemic Lupus Erythematosus
skipped — LLM skipped (--skip-llm)
- ctis·2024-514393-44-00·Cancelled·Cannabidiol as an Add-on Treatment to substance abuse in juvenile patients with PSYchosis: a double-blind randomized placebo-controlled study.
skipped — LLM skipped (--skip-llm)
- ctis·2024-514514-12-00·Cancelled·Study on the investigational drug SAN711, placebo-controlled, administered to healthy adults and elderly subjects at multiple ascending oral doses to evaluate the safety, tolerability, pharmacokinetics, pharmacodynamics of SAN711 and its interaction with food
skipped — LLM skipped (--skip-llm)
- ctis·2023-505051-43-00·Authorised, ongoing·Comparison of STep-up and step-down therapeutic strategies in childhood ARthritiS
skipped — LLM skipped (--skip-llm)
- ctis·2024-513651-32-00·Cancelled·MYOCIT - Baricitinib in the treatment of new-onset juvenile dermatomyositis: a phase II trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-513017-12-00·Authorised, ongoing·Optimizing treatment for children and adolescents with Juvenile Idiopathic Arthritis in sustained remission: a comparison of three treatment strategies.
An open randomized multicenter trial assessing two different treatment withdrawal strategies compared to continued stable treatment with methotrexate and tumor necrosis factor inhibitor in children and adolescents with juvenile idiopathic arthritis in stable remission. The MOVE-JIA trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-515805-25-00·Authorised, ongoing·Optimalization Of The Time And Dosage Of Vemurafenib In BRAF Positive Juvenile Patients With Refractory Histiocytosis
skipped — LLM skipped (--skip-llm)
- ctis·2024-515896-37-00·Expired·Optimalization Of The Time And Dosage Of Trametinib In BRAF Negative Juvenile Patients With Refractory Histiocytosis Or After Failure Of Vemurafenib Treatment.
skipped — LLM skipped (--skip-llm)
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 Juvenile cataract-microcornea-renal glucosuria syndrome — check Associations / patient organisations on that page.
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.
("Juvenile cataract-microcornea-renal glucosuria syndrome" OR "Juvenile cataract-microcornea-renal glycosuria syndrome" OR "cataract 47, juvenile, with microcornea") OR (MESH:"Cataract, Juvenile, With Microcornea And Glucosuria") OR ("SLC16A12" OR "SLC16A12 syndrome" OR "SLC16A12-related")MeSH descriptor terms unioned into the query: Cataract, Juvenile, With Microcornea And Glucosuria
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Juvenile cataract-microcornea-renal glucosuria syndrome" OR "Juvenile cataract-microcornea-renal glycosuria syndrome" OR "cataract 47, juvenile, with microcornea" OR "Cataract, Juvenile, With Microcornea And Glucosuria"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; 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
- Publication count (402) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T10:37:11.826Z