ORPHA:99819
Familial gestational hyperthyroidism
Publications
29
29.7th percentile
Trials
0
Interventional, condition-specific
Researchers
174
Distinct authors in sample
Gene link
TSHR
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic hyperthyroidism characterized by hyperemesis gravidarum associated with hyperthyroidism due to hypersensitivity of the thyrotropin receptor to chorionic gonadotropin, in the absence of abnormally high serum chorionic gonadotropin levels. Clinical manifestations include severe nausea, vomiting, weight loss, tachycardia, excessive sweating, and hand tremor, but no signs of ophthalmopathy.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011309
- MeSH:C566384
- OMIM:603373
- UMLS:C1863959
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — TSHR
- LiteraturePresent
29 matched papers (12 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 trialPartial
None under the specific name; 45 for broader category hyperthyroidism
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 (TSHR).
GenCC classification: Definitive.
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?
29
29 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.
29 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).
12 in the last 10 years · high confidence · 29.7th percentile (publications denominator)
Phrase hits: 28 · MeSH hits: 1
Who's working on it?
174
Distinct author names in 29 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.
- 01Vassart G5 papers · 2008Papers in Europe PMC
- 02Costagliola S4 papers · 2008Papers in Europe PMC
- 03Rodien P3 papers · 2003
Endocrinologie, Centre hospitalier universitaire d'Angers, 4 rue Larrey, 49033 Angers cedex 01, France. PaRodien@chu-angers.fr
Papers in Europe PMC - 04Duprez L2 papers · 1999
Institut de Recherche Interdisciplinaire, Faculty of Medicine, University of Brussels, Belgium.
Papers in Europe PMC - 05Parma J2 papers · 1999Papers in Europe PMC
- 06Smits G2 papers · 2008Papers in Europe PMC
- 07Tao YX2 papers · 2021
Department of Anatomy, Physiology and Pharmacology, 212 Greene Hall, College of Veterinary Medicine, Auburn University, Auburn, AL 36849, USA. taoyaxi@vetmed.auburn.edu
Papers in Europe PMC - 08Van Sande J2 papers · 1999Papers in Europe PMC
- 09Abramowicz M1 paper · 1999Papers in Europe PMC
- 10Al-Zoghaibi F1 paper · 2021
Molecular BioMedicine Program, Research Centre, King Faisal Specialist Hospital and Research Centre, P.O.Box: 3354, MBC:03, Riyadh 11211, Saudi Arabia.
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). 45 trials are registered for hyperthyroidism, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
45 interventional trials matched hyperthyroidism, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: hyperthyroidism
45
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT07400224·RECRUITING·Clinical Application of Al18F-NOTA-FAPI-04 PET/CT or PET/MRI Imaging in Malignant Tumor,Cardiovascular or Immune Disease
Conditions: Hyperthyroidism, Autoimmune · Cardiovascular Abnormalities · Malignant Tumor·Matched via name phrase
- NCT07405320·NOT YET RECRUITING·A Brief Video Intervention to Improve Patient Outcomes Following Radioiodine Treatment
Conditions: Thyroid Cancer · Hyperthyroidism · Radioiodine Treatment·Matched via name phrase
- NCT06540469·NOT YET RECRUITING·Iodine Supplementation in Graves' Hyperthyroidism
Conditions: Graves Disease · Hyperthyroidism·Matched via name phrase
- NCT04856488·RECRUITING·Preoperative Lugol's Solution in Graves' Disease and Toxic Nodular Goiter
Conditions: Hyperthyroidism·Matched via name phrase
- NCT07369063·RECRUITING·Impact of Vitamin D Therapy on Thyroid Function and Antibody Levels in Pediatric Graves' Disease
Conditions: Graves Disease · Graves' Disease · Hyperthyroidism·Matched via name phrase
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.
"Familial gestational hyperthyroidism"
MeSH descriptor terms unioned into the query: Hyperthyroidism, Familial Gestational
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial gestational hyperthyroidism" OR "Hyperthyroidism, Familial Gestational" OR "TSHR"
Recall-expansion terms: TSHR
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"hyperthyroidism"
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
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 2026-07-27T06:19:58.241Z