ORPHA:1571
Knobloch syndrome
Also known as: Knobloch-Layer syndrome · Retinal detachment-occipital encephalocele syndrome
Publications
6,800
Trials
0
Interventional, condition-specific
Researchers
1,193
Distinct authors in sample
Gene link
COL18A1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare systemic disorder characterized by vitreoretinal and macular degeneration, as well as occipital encephalocele.
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:0800167
- MeSH:C537209
- OMIM:267750
- UMLS:C4551775
Additional Mondo synonyms (5)
KNO1 · KNOBLOCH syndrome 1 · Knobloch syndrome type 1 · Knobloch syndrome, type 1 · retinal detachment-occipital encephalocele 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
Definitive — COL18A1
- LiteraturePresent
6,800 matched papers (4,135 in last 10 years) Source
- Phenotype characterisedPresent
83 HPO annotations (e.g. Retinal detachment; Macular degeneration; Calvarial skull defect) 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 (COL18A1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
83
Associated phenotypes · MONDO:0800167
- Retinal detachment
- Macular degeneration
- Calvarial skull defect
- Visual loss
- Abnormal vitreous humor morphology
Showing 5 of 83 — open Monarch for the full list.
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 2026-07-27
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?
6,800
6,800 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
6,800 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).
4,135 in the last 10 years · low confidence
Phrase hits: 361 · MeSH hits: 13
Who's working on it?
1,193
Distinct author names in 200 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.
- 01
- 02
- 03Pihlajaniemi T6 papers · 2023
ECM-Hypoxia Research Unit, Faculty of Biochemistry and Molecular Medicine, University of Oulu, 90014 Oulu, Finland.
Papers in Europe PMC - 04Alsulaiman SM5 papers · 2024
King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
Papers in Europe PMC - 05Ghazi NG5 papers · 2025
a Eye Institute , Cleveland Clinic Abu Dhabi , Abu Dhabi , United Arab Emirates.
Papers in Europe PMC - 06Aldahmesh MA4 papers · 2015
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Papers in Europe PMC - 07Heljasvaara R4 papers · 2023
ECM-Hypoxia Research Unit, Faculty of Biochemistry and Molecular Medicine, University of Oulu, 90014 Oulu, Finland.
Papers in Europe PMC - 08Kalsner L4 papers · 2026
Division of Genetics, Connecticut Children's, Hartford, CT 06106, USA; Department of Pediatrics, University of Connecticut School of Medicine, Farmington, CT 06030, USA; Division of Neurology, Connecticut Children's, Hartford, CT 06106, USA. Electronic address: lkalsner@connecticutchildrens.org.
Papers in Europe PMC - 09Li H4 papers · 2025
Department of Ophthalmology, Eye and Ear, Nose, and Throat Hospital, Fudan University, 83 Fenyang Road, Shanghai, 200031 China.
Papers in Europe PMC - 10Passos-Bueno MR4 papers · 2026
Centro de Estudos do Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brasil.
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 9 September 2026 · last trial check 9 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.
low 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-27
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 Knobloch 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.
("Knobloch syndrome" OR "Knobloch-Layer syndrome" OR "Retinal detachment-occipital encephalocele syndrome" OR "KNOBLOCH syndrome 1" OR "Knobloch syndrome type 1" OR "Knobloch syndrome, type 1") OR (MESH:"Knobloch syndrome") OR ("COL18A1" OR "COL18A1 syndrome" OR "COL18A1-related")MeSH descriptor terms unioned into the query: Knobloch syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Knobloch syndrome" OR "Knobloch-Layer syndrome" OR "Retinal detachment-occipital encephalocele syndrome" OR "KNOBLOCH syndrome 1" OR "Knobloch syndrome type 1" OR "Knobloch syndrome, type 1"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: KNO1
Confidence reasoning
- Preferred label is short or not clearly distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (6800) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T01:36:12.191Z