ORPHA:369970
Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
Also known as: MMCAT syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
34
42.4th percentile
Trials
0
Interventional, condition-specific
Researchers
246
Distinct authors in sample
Gene link
ADAMTS18
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare syndromic chorioretinal characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ecotpia pupilae and retinal detachment.
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:0014195
- OMIM:615458
- UMLS:C3809567
Additional Mondo synonyms (2)
microcornea-myopic chorioretinal atrophy · microcornea-myopic chorioretinal atrophy-telecanthus 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 — ADAMTS18
- LiteraturePresent
34 matched papers (28 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 (ADAMTS18).
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?
34
34 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.
34 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).
28 in the last 10 years · high confidence · 42.4th percentile (publications denominator)
Phrase hits: 34 · MeSH hits: 0
Who's working on it?
246
Distinct author names in 34 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.
- 01Alkuraya FS4 papers · 2022
Department of Genetics, King Faisal Specialist Hospital and Research Center Riyadh, Saudi Arabia ; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University Riyadh, Saudi Arabia.
Papers in Europe PMC - 02Chandra A3 papers · 2024
1] Vitreoretinal Department, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia [2] Vitreoretinal Department, Moorfields Eye Hospital, London, UK.
Papers in Europe PMC - 03Li L3 papers · 2023
BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.
Papers in Europe PMC - 04Haltiwanger RS2 papers · 2025
Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY 11794, USA.
Papers in Europe PMC - 05Khalil RA2 papers · 2022
Vascular Surgery Research Laboratories, Division of Vascular and Endovascular Surgery, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States. Electronic address: raouf_khalil@hms.harvard.edu.
Papers in Europe PMC - 06Khan AO2 papers · 2013
Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. arif.khan@mssm.edu
Papers in Europe PMC - 07Liu Y2 papers · 2023
Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.
Papers in Europe PMC - 08Maddirevula S2 papers · 2022
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Papers in Europe PMC - 09Moosajee M2 papers · 2025
UCL Institute of Ophthalmology, London, UK. m.moosajee@ucl.ac.uk.
Papers in Europe PMC - 10Abdel-Salam GMH1 paper · 2020
Human Genetics & Genome Research Division, Clinical Genetics Department, Center of Excellence of Human Genetics, National Research Centre, Cairo, Egypt.
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.
"Microcornea-myopic chorioretinal atrophy-telecanthus syndrome" OR "MMCAT syndrome" OR "microcornea-myopic chorioretinal atrophy"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Microcornea-myopic chorioretinal atrophy-telecanthus syndrome" OR "MMCAT syndrome" OR "microcornea-myopic chorioretinal atrophy" OR "ADAMTS18"
Recall-expansion terms: ADAMTS18
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 2026-07-27T14:51:47.153Z