ORPHA:2321
Jung syndrome
Publications
1
2.3th percentile
Trials
0
Interventional, condition-specific
Researchers
5
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, syndrome characterized by the association of anterior ocular chamber cleavage disorder with , short stature and hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995.
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:0011078
- MeSH:C537694
- OMIM:601427
- UMLS:C1832362
Additional Mondo synonyms (1)
anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis
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.”
2/6 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
1 matched papers (0 in last 10 years) Source
- Phenotype characterisedPresent
33 HPO annotations (e.g. Microcephaly; Round face; Wide nasal bridge) 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
33
Associated phenotypes · MONDO:0011078
- Microcephaly
- Round face
- Wide nasal bridge
- Telecanthus
- Hypothyroidism
Showing 5 of 33 — 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?
1
1 paper 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=3967) is 59.
1 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).
0 in the last 10 years · medium confidence · 2.3th percentile (publications denominator)
Phrase hits: 1 · MeSH hits: 0
Who's working on it?
5
Distinct author names in 1 sampled paper — 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.
- 01Al-Gazali L1 paper · 2009
Department of Paediatrics and Pathology, Faculty of Medicine & Health Sciences, UAE University, Al Ain, UAE. algazali@hotmail.com
Papers in Europe PMC - 02Algawi K1 paper · 2009Papers in Europe PMC
- 03Ali BR1 paper · 2009Papers in Europe PMC
- 04Kaplan W1 paper · 2009Papers in Europe PMC
- 05Shather B1 paper · 2009Papers 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 11 September 2026 · last trial check 11 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.
medium 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 9 · after dedupe 9 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 9 · 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 (9)
- ctis·2026-526113-28-00·Authorised·Prospective, multicenter, randomized study on combined LT4 + LT3 therapy versus LT4 in the control of TSH in patients with advanced thyroid cancer treated with tyrosine kinase inhibitors.
skipped — LLM skipped (--skip-llm)
- ctis·2025-524175-23-00·Authorised, ongoing·Impact of Early Thyroid Hormone Replacement on Kidney Function and Health-Related Quality of Life in Patients at Risk of Postoperative Hypothyroidism after Hemithyroidectomy: A Randomised Controlled Trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-515602-34-01·Authorised·Ultrasound-guided Radiofrequency Ablation versus radioactive Iodine as treatment for Hyperthyroidism caused by Solitary Autonomous Thyroid Nodules (RABITO study)
skipped — LLM skipped (--skip-llm)
- ctis·2024-513883-24-00·Authorised, recruiting·A national randomized placebo-controlled double-blind multicenter trial of LT4/LT3 combination therapy in patients with autoimmune hypothyroidism: the T3-4-Hypo trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-514789-38-00·Cancelled·Impact of levothyroxine on erectile function measured by the IIEF-15, EHS, PGIC and EDITS questionnaires in patients with hypothyroidism. Prospective, randomized controlled clinical trial with sildenafil 100
skipped — LLM skipped (--skip-llm)
- ctis·2024-514377-22-00·Authorised, ongoing·Effect of levothyroxine as adjuvant therapy to a hypocaloric diet in the treatment of obesity: a randomized placebo-controlled trial.
skipped — LLM skipped (--skip-llm)
- ctis·2024-512642-42-00·Authorised, ongoing·Randomized study to protect from radiation iatrogenic hypothyroidism patients with medulloblastoma (any stage, any biological risk) and pediatric patients with Hodgkin lymphoma and non-Hodgkin lymphoma needing radiation therapy on thyroid site - WINHYPO 2021
skipped — LLM skipped (--skip-llm)
- ctis·2023-509130-18-00·Authorised·Impact of Intraoperative Arteriography with Indocyanine Green in Preserving the Parathyroid Glands During Total Thyroidectomy With or Without Central Cervical Lymph Node Dissection. A Multicenter Prospective Randomized Trial.
skipped — LLM skipped (--skip-llm)
- ctis·2023-503653-35-00·Cancelled·Clindamycin pharmacokinetics during obstetric or fetal surgery
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 Jung 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.
"Jung syndrome" OR "anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Jung syndrome" OR "anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis"
Study-type breakdown: 0 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 short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T19:50:46.232Z