ORPHA:95719
Thyroid hemiagenesis
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
263
66.6th percentile
Trials
0
Interventional, condition-specific
Researchers
885
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary hypothyroidism, a permanent thyroid deficiency that is present from birth.
How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019860
- UMLS:C4023190
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
263 matched papers (102 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?
263
263 papers have ever been published on this condition (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.
263 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).
102 in the last 10 years · high confidence · 66.6th percentile (publications denominator)
Phrase hits: 263 · MeSH hits: 0
Who's working on it?
885
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.
- 01Szczepanek-Parulska E6 papers · 2022
Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznań, Poland.
Papers in Europe PMC - 02Budny B5 papers · 2022
Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznań, Poland.
Papers in Europe PMC - 03Niedziela M5 papers · 2022
Department of Pediatric Endocrinology and Diabetes, Poznan University of Medical Sciences, Szpitalna Street 27/33, 60-572 Poznan, Poland. mniedzie@am.poznan.pl
Papers in Europe PMC - 04Ruchala M5 papers · 2017
Department of Endocrinology, Metabolism and Internal Medicine, University of Medical Sciences, Poznań, Poland. mruchala@ump.edu.pl
Papers in Europe PMC - 05Ruchała M5 papers · 2022
Department of Endocrinology, Metabolism and Internal Medicine, University of Medical Sciences, Poznan, Poland. mruchala@ump.edu.pl
Papers in Europe PMC - 06Zabel M5 papers · 2017
Department of Histology and Embryology, Poznan University of Medical Sciences, Poznań, Poland; Department of Histology and Embryology, Wroclaw Medical University, Wrocław, Poland.
Papers in Europe PMC - 07Léger J4 papers · 2017
Pediatric Endocrinology Unit and INSERM U457, Hôpital Robert Debré, 75019 Paris, France. juliane.leger@rdb.ap-hop-paris.fr
Papers in Europe PMC - 08Szaflarski W4 papers · 2017
Department of Histology and Embryology, Poznan University of Medical Sciences, Poznań, Poland.
Papers in Europe PMC - 09Szczepanek E4 papers · 2011
Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznan, Poland.
Papers in Europe PMC - 10Chiovato L3 papers · 2022
Unit of Internal Medicine and Endocrinology, Laboratory for Endocrine Disruptors, Istituti Clinici Scientifici Maugeri IRCCS, 27100, Pavia, PV, Italy.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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.
"Thyroid hemiagenesis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Thyroid hemiagenesis" OR "generalized resistance to thyroid hormone" OR "thyroid hormone resistance syndrome"
Recall-expansion terms: generalized resistance to thyroid hormone, thyroid hormone resistance syndrome
Study-type breakdown: 0 interventional · 1 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 2026-07-27T04:49:50.324Z