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ORPHA:90354

Brittle cornea syndrome

low confidenceDisorder

Also known as: Ehlers-Danlos syndrome type 6B

Publications

987

Trials

1

Interventional, condition-specific

Researchers

1,144

Distinct authors in sample

Gene link

TMEM45A

Moderate

Readiness

5/6

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.

Orphanet entry

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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Moderate — TMEM45A

  2. LiteraturePresent

    987 matched papers (681 in last 10 years) Source

  3. Phenotype characterisedPresent

    72 HPO annotations (e.g. Visual loss; Blue sclerae; Osteoporosis) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

72

Associated phenotypes · MONDO:0009242

  • Visual loss
  • Blue sclerae
  • Osteoporosis
  • Hyperextensible skin
  • Gait disturbance

Showing 5 of 72 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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

1

Drugs / clinical candidates · MONDO_0009242

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

987

987 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=3967) is 59.

987 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).

681 in the last 10 years · low confidence

Phrase hits: 509 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Malfait F5 papers · 2022

    Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.

    Papers in Europe PMC
  2. 02
    Butler MG4 papers · 2022

    Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, Kansas City, Kansas, USA.

    Papers in Europe PMC
  3. 03
    Kosho T4 papers · 2024

    Center for Medical Genetics, Shinshu University Hospital, Japan.

    Papers in Europe PMC
  4. 04
    Porter 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
  5. 05
    Syx D4 papers · 2022

    Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.

    Papers in Europe PMC
  6. 06
    Watanabe K4 papers · 2026

    Niigata Spine Surgery Center, Niigata City, Japan.

    Papers in Europe PMC
  7. 07
    Au L3 papers · 2019

    Manchester Royal Eye Hospital, Manchester University Foundation Trust, Manchester, UK.

    Papers in Europe PMC
  8. 08
    Black 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
  9. 09
    Hwang CJ3 papers · 2025

    Department of Orthopedic Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

    Papers in Europe PMC
  10. 10
    Khan 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 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th 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.

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Brittle cornea syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("TMEM45A" OR "TMEM45A syndrome" OR "TMEM45A-related")

Run this search on Europe PMC

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"

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: ok — strategies attempted: phrase; 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 (987) 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