ORPHA:1873
Jalili syndrome
Also known as: Cone rod dystrophy-amelogenesis imperfecta syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
127
65.4th percentile
Trials
0
Interventional, condition-specific
Researchers
854
Distinct authors in sample
Gene link
CNNM4
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal (CORD).
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:0009007
- MeSH:C000596385
- OMIM:217080
- UMLS:C3495589
Additional Mondo synonyms (1)
cone rod dystrophy-amelogenesis imperfecta 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.”
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 — CNNM4
- LiteraturePresent
127 matched papers (94 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 (CNNM4).
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?
127
127 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.
127 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).
94 in the last 10 years · medium confidence · 65.4th percentile (publications denominator)
Phrase hits: 127 · MeSH hits: 0
Who's working on it?
854
Distinct author names in 127 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.
- 01Funato Y8 papers · 2024
From the Department of Cellular Regulation, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka 565-0871, Japan and.
Papers in Europe PMC - 02Gehring K8 papers · 2025
From the Department of Biochemistry and Centre for Structural Biology, McGill University, Montreal, Quebec H3G 0B1, Canada and. Electronic address: kalle.gehring@mcgill.ca.
Papers in Europe PMC - 03Miki H8 papers · 2024
From the Department of Cellular Regulation, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka 565-0871, Japan and hmiki@biken.osaka-u.ac.jp.
Papers in Europe PMC - 04Kozlov G6 papers · 2024
From the Department of Biochemistry and Centre for Structural Biology, McGill University, Montreal, Quebec H3G 0B1, Canada and.
Papers in Europe PMC - 05Martínez-Cruz LA6 papers · 2022
Liver Disease Laboratory, Center for Cooperative Research in Biosciences (CIC bioGUNE), Basque Research and Technology Alliance (BRTA), Bizkaia Technology Park, Building 801A, 48160, Derio, Spain.
Papers in Europe PMC - 06Bloch-Zupan A5 papers · 2025
Centre de Référence des Manifestations Odontologiques des Maladies Rares, Pôle de Médecine et Chirurgie Bucco-dentaires, Hôpitaux Universitaires de Strasbourg (HUS), Strasbourg, France Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France Institut de Génétique et de Biologie Moléculaire and Cellulaire-Centre Européen de Recherche en Biologie et en Médecine, CNRS UMR7104, INSERM U964 Université de Strasbourg, Illkirch, France.
Papers in Europe PMC - 07Chen YS5 papers · 2023
From the Department of Biochemistry and Centre for Structural Biology, McGill University, Montreal, Quebec H3G 0B1, Canada and.
Papers in Europe PMC - 08Inglehearn CF5 papers · 2019
1 Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK.
Papers in Europe PMC - 09
- 10Fakih R4 papers · 2022
From the Department of Biochemistry and Centre for Structural Biology, McGill University, Montreal, Quebec H3G 0B1, Canada and.
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.
medium 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.
"Jalili syndrome" OR "Cone rod dystrophy-amelogenesis imperfecta syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Jalili syndrome" OR "Cone rod dystrophy-amelogenesis imperfecta syndrome" OR "CNNM4"
Recall-expansion terms: CNNM4
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 short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T18:21:21.698Z