ORPHA:95717
Idiopathic congenital hypothyroidism
Publications
17
19.9th percentile
Trials
0
Interventional, condition-specific
Researchers
101
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare primary hypothyroidsm without throid developmental anomaly characterized by hypothroidsm present at birth without a known cause. The thyroid gland is normal in shape, size and location. Goiter is always absent.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019858
- UMLS:C4273913
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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
17 matched papers (5 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; 7 for broader category congenital hypothyroidism
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?
17
17 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.
17 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).
5 in the last 10 years · high confidence · 19.9th percentile (publications denominator)
Phrase hits: 17 · MeSH hits: 0
Who's working on it?
101
Distinct author names in 17 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.
- 01Al Dhaybi R1 paper · 2010Papers in Europe PMC
- 02Almange C1 paper · 1978Papers in Europe PMC
- 03Annunziata A1 paper · 2023
UOC Malattie, Fisiopatologia e Riabilitazione dell'Apparato Respiratorio, Monaldi Hospital, Naples, Italy.
Papers in Europe PMC - 04Arslan Ates E1 paper · 2021
Department of Medical Genetics, Marmara University Pendik Training and Research Hospital, Istanbul, Turkey.
Papers in Europe PMC - 05Atripaldi L1 paper · 2023
UOC Malattie, Fisiopatologia e Riabilitazione dell'Apparato Respiratorio, Monaldi Hospital, Naples, Italy.
Papers in Europe PMC - 06Ayup-Arguijo E1 paper · 2012Papers in Europe PMC
- 07Baas F1 paper · 2002Papers in Europe PMC
- 08Basford MA1 paper · 2011Papers in Europe PMC
- 09Bastarache L1 paper · 2011Papers in Europe PMC
- 10Bielinski SJ1 paper · 2011Papers 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. 7 trials are registered for congenital hypothyroidism, 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.
7 interventional trials matched congenital hypothyroidism, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: congenital hypothyroidism
7
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
- NCT06864351·RECRUITING·Prospective Evaluation of OptiThyDose
Conditions: Thyroid Diseases · Congenital Hypothyroidism · Graves Disease·Matched via name phrase
- NCT06864039·ENROLLING BY INVITATION·Quality of Life and Long-term Outcome of Adequately Treated Congenital Hypothyroidism
Conditions: Congenital Hypothyroidism·Matched via name phrase
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.
Recruiting or not-yet-recruiting
- NCT01440218·ENROLLING BY INVITATION·Idiopathic Diseases of Man
Conditions: Rare Disease · Idiopathic Disease·Matched via recall expansion
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.
"Idiopathic congenital hypothyroidism"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Idiopathic congenital hypothyroidism" OR "idiopathic disease"
Recall-expansion terms: idiopathic disease
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"congenital hypothyroidism"
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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 2026-07-27T04:49:40.728Z