ORPHA:90354
Brittle cornea syndrome
Also known as: Ehlers-Danlos syndrome type 6B
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
509
Trials
1
Interventional, condition-specific
Researchers
1,144
Distinct authors in sample
Gene link
TMEM45A
Moderate
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip , and joint hypermobility.
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.
Additional Mondo synonyms (3)
brittle cornea syndrome · brittle cornea syndrome type 1 · kyphoscoliosis type
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.
- Gene identifiedPresent
Moderate — TMEM45A
- LiteraturePresent
509 matched papers (312 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 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?
Probably — there is moderate evidence for TMEM45A.
GenCC classification: Moderate.
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?
509
509 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.
509 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).
312 in the last 10 years · low confidence
Phrase hits: 509 · MeSH hits: 0
Who's working on it?
1,144
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.
- 01Malfait F5 papers · 2022
Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.
Papers in Europe PMC - 02Butler MG4 papers · 2022
Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, Kansas City, Kansas, USA.
Papers in Europe PMC - 03Kosho T4 papers · 2024
Center for Medical Genetics, Shinshu University Hospital, Japan.
Papers in Europe PMC - 04Porter LF4 papers · 2020
Institute of Human Development, Centre for Genomic Medicine, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Saint Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK. louise.porter@liverpool.ac.uk.
Papers in Europe PMC - 05Syx D4 papers · 2022
Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Papers in Europe PMC - 06
- 07Au L3 papers · 2019
Manchester Royal Eye Hospital, Manchester University Foundation Trust, Manchester, UK.
Papers in Europe PMC - 08Black GC3 papers · 2015
Institute of Human Development, Centre for Genomic Medicine, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Saint Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK. Graeme.Black@manchester.ac.uk.
Papers in Europe PMC - 09Hwang CJ3 papers · 2025
Department of Orthopedic Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Papers in Europe PMC - 10Khan MI3 papers · 2019
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
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.
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.
"Brittle cornea syndrome" OR "Ehlers-Danlos syndrome type 6B" OR "brittle cornea syndrome type 1" OR "kyphoscoliosis type"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Brittle cornea syndrome" OR "Ehlers-Danlos syndrome type 6B" OR "brittle cornea syndrome type 1" OR "kyphoscoliosis type" OR "TMEM45A"
Recall-expansion terms: TMEM45A
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 · 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
- Publication count (509) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T03:46:13.260Z