ORPHA:2407
Laryngo-onycho-cutaneous syndrome
Also known as: LOC syndrome · LOGIC syndrome · Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome · Shabbir syndrome
Query health: suspect — Source fetch failed for trials.
Publications
2,810
Trials
—
Interventional, condition-specific
Researchers
492
Distinct authors in sample
Gene link
LAMA3
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.
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:0009513
- MeSH:C537032
- OMIM:245660
- UMLS:C1328355
Additional Mondo synonyms (3)
laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome · laryngo-onycho-cutaneous syndrome · logic 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
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedPresent
Definitive — LAMA3
- LiteraturePresent
2,810 matched papers (2,022 in last 10 years) Source
- Phenotype characterisedPresent
31 HPO annotations (e.g. Hoarse voice; Inspiratory stridor; Visual impairment) 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 checked
Trial fetch failed or incomplete
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 (LAMA3).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
31
Associated phenotypes · MONDO:0009513
- Hoarse voice
- Inspiratory stridor
- Visual impairment
- Skin ulcer
- Microdontia
Showing 5 of 31 — 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 2026-07-29
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
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?
2,810
2,810 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.
2,810 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).
2,022 in the last 10 years · low confidence
Phrase hits: 96 · MeSH hits: 0
Who's working on it?
492
Distinct author names in 96 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.
- 01Hamill KJ4 papers · 2018
Department of Eye and Vision Science, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, United Kingdom.
Papers in Europe PMC - 02
- 03McGrath JA4 papers · 2024
St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, Guy's Hospital, St Thomas Street, London SE1 9RT, UK.
Papers in Europe PMC - 04Moore JE4 papers · 2008
Department of Ophthalmology, Queen's University Belfast, Northern Ireland.
Papers in Europe PMC - 05Ainsworth JR3 papers · 2005
Department of Ophthalmology, Royal Hospital for Sick Children, Glasgow.
Papers in Europe PMC - 06Atherton DJ3 papers · 2006Papers in Europe PMC
- 07Mellerio JE3 papers · 2021
St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, UK.
Papers in Europe PMC - 08Murrell DF3 papers · 2026
Department of Dermatology, St. George Hospital, Sydney, Australia.
Papers in Europe PMC - 09Ozoemena L3 papers · 2024
Viapath, Guy's and St Thomas' NHS Foundation Trust, London, UK.
Papers in Europe PMC - 10Shah S3 papers · 2010Papers in Europe PMC
Clinical research
Is a treatment being tested?
—
interventional trials for this specific condition
We could not load trial data for this condition right now.
Data as of 11 September 2026 · last trial check 9 August 2026
low confidence
Recruiting interventional trials
From the matched ClinicalTrials.gov set
Trial data could not be loaded for this build. This is not the same as finding zero interventional trials.
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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · dropped 0 · fetched 2026-07-29
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).
Uncertain / not reviewed (2)
- isrctn·ISRCTN56531234·No longer recruiting·Effect of two different forms of propofol administration on sedation during bronchoscopy
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN41639707·No longer recruiting·An online consensus-building study to agree on key policy measures for assessing whether the England Rare Diseases Action Plans (developed by the Department of Health and Social Care) are effective
skipped — LLM skipped (--skip-llm)
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 Laryngo-onycho-cutaneous 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.
("Laryngo-onycho-cutaneous syndrome" OR "LOC syndrome" OR "LOGIC syndrome" OR "Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome" OR "Shabbir syndrome") OR ("LAMA3" OR "LAMA3 syndrome" OR "LAMA3-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Laryngo-onycho-cutaneous syndrome" OR "LOC syndrome" OR "LOGIC syndrome" OR "Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome" OR "Shabbir syndrome"
Query health: suspect — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Source errors: trials: Error: Failed after 5 retries: https://clinicaltrials.gov/api/v2/studies?query.cond=%22Laryngo-onycho-cutaneous%20syndrome%22%20OR%20%22LOC%20syndrome%22%20OR%20%22LOGIC%20syndrome%22%20OR%20%22Laryngeal%20and%20ocular%20granulation%20tissue%20in%20children%20from%20the%20Indian%20subcontinent%20syndrome%22%20OR%20%22Shabbir%20syndrome%22&format=json&pageSize=100&countTotal=true — undefined
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 (2810) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T20:06:44.103Z