ORPHA:141071
Isolated digestive duplication cyst of the tongue
Also known as: Enteric duplication cyst of the tongue · Foregut duplication cyst of the tongue · Gastric duplication cyst of the tongue
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
8
15.2th percentile
Trials
0
Interventional, condition-specific
Researchers
34
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0015384
- UMLS:C4512051
Additional Mondo synonyms (5)
cysts and fistulae of the face and oral cavity of tongue · enteric duplication cyst of the tongue · foregut duplication cyst of the tongue · gastric duplication cyst of the tongue · tongue cysts and fistulae of the face and oral cavity
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
8 matched papers (3 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
8
8 papers have ever been indexed 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.
8 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).
3 in the last 10 years · high confidence · 15.2th percentile (publications denominator)
Phrase hits: 8 · MeSH hits: 0
Who's working on it?
34
Distinct author names in 8 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.
- 01Arteta AA1 paper · 2022
Department of Pathology, University of Antioquia, Medellín, Colombia.
Papers in Europe PMC - 02Barfiwala PD1 paper · 2026
Department of Pediatric Surgery, Topiwala National Medical College and B.Y.L. Nair Charitable Hospital, Mumbai, Maharashtra, India.
Papers in Europe PMC - 03Bendre P1 paper · 2011Papers in Europe PMC
- 04Couvreur S1 paper · 2004Papers in Europe PMC
- 05Durand C1 paper · 2004Papers in Europe PMC
- 06Gandhi S1 paper · 2026
Department of Pediatric Surgery, Topiwala National Medical College and B.Y.L. Nair Charitable Hospital, Mumbai, Maharashtra, India.
Papers in Europe PMC - 07Gantwerker EA1 paper · 2014
Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital/Harvard Medical School, Boston, Massachusetts.
Papers in Europe PMC - 08Hambarde S1 paper · 2011
Department of Paediatric Surgery, B J Wadia Children Hospital, Parel, Mumbai, India.
Papers in Europe PMC - 09Hosseinzadeh K1 paper · 2011Papers in Europe PMC
- 10Houshmand G1 paper · 2011
Department of Radiology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
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.
"Isolated digestive duplication cyst of the tongue" OR "Isolated digestive duplication cyst of tongue" OR "Enteric duplication cyst of the tongue" OR "Enteric duplication cyst of tongue" OR "Foregut duplication cyst of the tongue" OR "Foregut duplication cyst of tongue" OR "Gastric duplication cyst of the tongue" OR "Gastric duplication cyst of tongue" OR "cysts and fistulae of the face and oral cavity of tongue" OR "cysts and fistulae of face and oral cavity of tongue" OR "tongue cysts and fistulae of the face and oral cavity" OR "tongue cysts and fistulae of face and oral cavity"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Isolated digestive duplication cyst of the tongue" OR "Isolated digestive duplication cyst of tongue" OR "Enteric duplication cyst of the tongue" OR "Enteric duplication cyst of tongue" OR "Foregut duplication cyst of the tongue" OR "Foregut duplication cyst of tongue" OR "Gastric duplication cyst of the tongue" OR "Gastric duplication cyst of tongue" OR "cysts and fistulae of the face and oral cavity of tongue" OR "cysts and fistulae of face and oral cavity of tongue" OR "tongue cysts and fistulae of the face and oral cavity" OR "tongue cysts and fistulae of face and oral cavity" OR "tongue disorder"
Recall-expansion terms: tongue disorder
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 2026-07-27T07:50:44.721Z