ORPHA:95713
Athyreosis
Publications
401
65th percentile
Trials
0
Interventional, condition-specific
Researchers
1,065
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary hypothyroidism, a permanent thyroid deficiency that is present from birth.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019855
- UMLS:C0749420
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
401 matched papers (165 in last 10 years) Source
- Phenotype characterisedPresent
25 HPO annotations (e.g. Muscle weakness; Abdominal distention; Excessive daytime somnolence) 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)
25
Associated phenotypes · MONDO:0019855
- Muscle weakness
- Abdominal distention
- Excessive daytime somnolence
- Lethargy
- Global developmental delay
Showing 5 of 25 — 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?
401
401 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=3967) is 59.
401 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).
165 in the last 10 years · medium confidence · 65th percentile (publications denominator)
Phrase hits: 401 · MeSH hits: 0
Who's working on it?
1,065
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.
- 01Van Vliet G14 papers · 2025
Endocrinology Service and Research Center, Centre Hospitalier Universitaire Sainte-Justine, Montreal, Que., Canada.
Papers in Europe PMC - 02Polak M12 papers · 2025
INSERM U1016Université Paris Descartes, Sorbonne Paris Cité, Paris, FrancePediatric EndocrineGynecology and Diabetes Unit, Centre des Maladies Endocriniennes Rares de la Croissance, Hôpital Necker Enfants-Malades, AP-HP, Paris, FranceIMAGINE InstituteParis, FranceLaboratório de Estudo da Tireoide (LET)Departamento de Biorregulação, Instituto de Ciências da Saúde, Universidade Federal da Bahia, Salvador, Bahia, BrazilCurso de Pós-Graduação em Biotecnologia em Saúde e Medicina InvestigativaCentro de Pesquisa Gonçalo Moniz - FIOCRUZ/BA, Salvador, Bahia, BrazilCurso de Pós-Graduação em Processos Interativos de Órgãos e SistemasInstituto de Ciências da Saúde, Universidade Federal da Bahia, Salvador, Bahia, BrazilINSERM U676Paris Diderot University, Robert Debré Hospital, Paris, FrancePediatric EndocrinologyUniversity Children's Hospital Basel, University Basel, Basel, SwitzerlandPediatric Endocrine UnitHôpital Armand Trousseau, AP-HP, Paris, FrancePediatrics DepartmentCHU, Bordeaux, FrancePediatrics DepartmentCH de Cornouailles-Hopital Laennec, Quimper, FranceSaint-Antoine Research CenterINSERM UMRS 938, Saint-Antonie Hospital, Université Pierre-et-Marie-Curie, Paris, France andPediatrics DepartmentCH Charles Nicolle, University Hospital of Rouen, Rouen, France INSERM U1016Université Paris Descartes, Sorbonne Paris Cité, Paris, FrancePediatric EndocrineGynecology and Diabetes Unit, Centre des Maladies Endocriniennes Rares de la Croissance, Hôpital Necker Enfants-Malades, AP-HP, Paris, FranceIMAGINE InstituteParis, FranceLaboratório de Estudo da Tireoide (LET)Departamento de Biorregulação, Instituto de Ciências da Saúde, Universidade Federal da Bahia, Salvador, Bahia, BrazilCurso de Pós-Graduação em Biotecnologia em Saúde e Medicina InvestigativaCentro de Pesquisa Gonçalo Moniz - FIOCRUZ/BA, Salvador, Bahia, BrazilCurso de Pós-Graduação em Processos Interativos de Órgãos e SistemasInstituto de Ciências da Saúde, Universidade Fede
Papers in Europe PMC - 03Deladoëy J11 papers · 2022
Endocrinology Service and Research Center, Sainte-Justine Hospital and Department of Pediatrics, University of Montreal, Montreal H3T 1C5, Canada. johnny.deladoey@umontreal.ca
Papers in Europe PMC - 04Carré A9 papers · 2025
INSERM U1016Université Paris Descartes, Sorbonne Paris Cité, Paris, FrancePediatric EndocrineGynecology and Diabetes Unit, Centre des Maladies Endocriniennes Rares de la Croissance, Hôpital Necker Enfants-Malades, AP-HP, Paris, FranceIMAGINE InstituteParis, FranceLaboratório de Estudo da Tireoide (LET)Departamento de Biorregulação, Instituto de Ciências da Saúde, Universidade Federal da Bahia, Salvador, Bahia, BrazilCurso de Pós-Graduação em Biotecnologia em Saúde e Medicina InvestigativaCentro de Pesquisa Gonçalo Moniz - FIOCRUZ/BA, Salvador, Bahia, BrazilCurso de Pós-Graduação em Processos Interativos de Órgãos e SistemasInstituto de Ciências da Saúde, Universidade Federal da Bahia, Salvador, Bahia, BrazilINSERM U676Paris Diderot University, Robert Debré Hospital, Paris, FrancePediatric EndocrinologyUniversity Children's Hospital Basel, University Basel, Basel, SwitzerlandPediatric Endocrine UnitHôpital Armand Trousseau, AP-HP, Paris, FrancePediatrics DepartmentCHU, Bordeaux, FrancePediatrics DepartmentCH de Cornouailles-Hopital Laennec, Quimper, FranceSaint-Antoine Research CenterINSERM UMRS 938, Saint-Antonie Hospital, Université Pierre-et-Marie-Curie, Paris, France andPediatrics DepartmentCH Charles Nicolle, University Hospital of Rouen, Rouen, France INSERM U1016Université Paris Descartes, Sorbonne Paris Cité, Paris, FrancePediatric EndocrineGynecology and Diabetes Unit, Centre des Maladies Endocriniennes Rares de la Croissance, Hôpital Necker Enfants-Malades, AP-HP, Paris, FranceIMAGINE InstituteParis, FranceLaboratório de Estudo da Tireoide (LET)Departamento de Biorregulação, Instituto de Ciências da Saúde, Universidade Federal da Bahia, Salvador, Bahia, BrazilCurso de Pós-Graduação em Biotecnologia em Saúde e Medicina InvestigativaCentro de Pesquisa Gonçalo Moniz - FIOCRUZ/BA, Salvador, Bahia, BrazilCurso de Pós-Graduação em Processos Interativos de Órgãos e SistemasInstituto de Ciências da Saúde, Universidade Fede
Papers in Europe PMC - 05Léger J9 papers · 2024
INSERM U1016Université Paris Descartes, Sorbonne Paris Cité, Paris, FrancePediatric EndocrineGynecology and Diabetes Unit, Centre des Maladies Endocriniennes Rares de la Croissance, Hôpital Necker Enfants-Malades, AP-HP, Paris, FranceIMAGINE InstituteParis, FranceLaboratório de Estudo da Tireoide (LET)Departamento de Biorregulação, Instituto de Ciências da Saúde, Universidade Federal da Bahia, Salvador, Bahia, BrazilCurso de Pós-Graduação em Biotecnologia em Saúde e Medicina InvestigativaCentro de Pesquisa Gonçalo Moniz - FIOCRUZ/BA, Salvador, Bahia, BrazilCurso de Pós-Graduação em Processos Interativos de Órgãos e SistemasInstituto de Ciências da Saúde, Universidade Federal da Bahia, Salvador, Bahia, BrazilINSERM U676Paris Diderot University, Robert Debré Hospital, Paris, FrancePediatric EndocrinologyUniversity Children's Hospital Basel, University Basel, Basel, SwitzerlandPediatric Endocrine UnitHôpital Armand Trousseau, AP-HP, Paris, FrancePediatrics DepartmentCHU, Bordeaux, FrancePediatrics DepartmentCH de Cornouailles-Hopital Laennec, Quimper, FranceSaint-Antoine Research CenterINSERM UMRS 938, Saint-Antonie Hospital, Université Pierre-et-Marie-Curie, Paris, France andPediatrics DepartmentCH Charles Nicolle, University Hospital of Rouen, Rouen, France.
Papers in Europe PMC - 06Stoupa A8 papers · 2025
INSERM U1016, Faculté de Médecine, Cochin Institute, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
Papers in Europe PMC - 07Liu S7 papers · 2025
Prenatal Diagnosis Center, The Affiliated Hospital of Qingdao University Qingdao 266003, Shandong, China.
Papers in Europe PMC - 08Szinnai G7 papers · 2025
INSERM U1016Université Paris Descartes, Sorbonne Paris Cité, Paris, FrancePediatric EndocrineGynecology and Diabetes Unit, Centre des Maladies Endocriniennes Rares de la Croissance, Hôpital Necker Enfants-Malades, AP-HP, Paris, FranceIMAGINE InstituteParis, FranceLaboratório de Estudo da Tireoide (LET)Departamento de Biorregulação, Instituto de Ciências da Saúde, Universidade Federal da Bahia, Salvador, Bahia, BrazilCurso de Pós-Graduação em Biotecnologia em Saúde e Medicina InvestigativaCentro de Pesquisa Gonçalo Moniz - FIOCRUZ/BA, Salvador, Bahia, BrazilCurso de Pós-Graduação em Processos Interativos de Órgãos e SistemasInstituto de Ciências da Saúde, Universidade Federal da Bahia, Salvador, Bahia, BrazilINSERM U676Paris Diderot University, Robert Debré Hospital, Paris, FrancePediatric EndocrinologyUniversity Children's Hospital Basel, University Basel, Basel, SwitzerlandPediatric Endocrine UnitHôpital Armand Trousseau, AP-HP, Paris, FrancePediatrics DepartmentCHU, Bordeaux, FrancePediatrics DepartmentCH de Cornouailles-Hopital Laennec, Quimper, FranceSaint-Antoine Research CenterINSERM UMRS 938, Saint-Antonie Hospital, Université Pierre-et-Marie-Curie, Paris, France andPediatrics DepartmentCH Charles Nicolle, University Hospital of Rouen, Rouen, France.
Papers in Europe PMC - 09Wang F7 papers · 2023
Medical Genetic Department, The Affiliated Hospital of Qingdao University, Qingdao, China.
Papers in Europe PMC - 10Kariyawasam D6 papers · 2023
RARE Disorder Center: Centre des Maladies Endocriniennes Rares de la Croissance et du Développement, Paris, France.
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 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
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).
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 Athyreosis — 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.
"Athyreosis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Athyreosis"
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 2026-07-27T04:48:48.851Z