ORPHA:95494
Combined pituitary hormone deficiencies, genetic forms
Also known as: Familial congenital hypopituitarism · Multiple pituitary hormone deficiencies, genetic forms
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
88
54.7th percentile
Trials
0
Interventional, condition-specific
Researchers
715
Distinct authors in sample
Gene link
FOXA2, HESX1, TCF7L1
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies. hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.
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:0013099
- UMLS:C4273747
Additional Mondo synonyms (4)
familial congenital hypopituitarism · genetic hypopituitarism · multiple pituitary hormone deficiencies, genetic forms · pituitary hormone deficiency, combined
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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — FOXA2, HESX1, TCF7L1
- LiteraturePresent
88 matched papers (54 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?
Yes — we know a specific gene responsible (FOXA2, HESX1, TCF7L1).
GenCC classification: Strong.
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?
88
88 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.
88 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).
54 in the last 10 years · high confidence · 54.7th percentile (publications denominator)
Phrase hits: 88 · MeSH hits: 0
Who's working on it?
715
Distinct author names in 88 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.
- 01Brue T3 papers · 2016
Aix-Marseille Université, CNRS, CRN2M UMR 7286, 13344, Marseille Cedex 15, France.
Papers in Europe PMC - 02Amberger JS2 papers · 1994Papers in Europe PMC
- 03Annerén G2 papers · 1998Papers in Europe PMC
- 04Bashamboo A2 papers · 2023
Human Developmental Genetics Unit, Institute Pasteur, Paris, France.
Papers in Europe PMC - 05Bignon-Topalovic J2 papers · 2023
Human Developmental Genetics Unit, Institute Pasteur, Paris, France.
Papers in Europe PMC - 06Brauner R2 papers · 2023
Fondation Ophtalmologique Adolphe de Rothschild and Université Paris Descartes, Paris, France.
Papers in Europe PMC - 07Chen HY2 papers · 2025
Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, MSC0610, 6 Center Drive, Bethesda, MD 20892 USA. Electronic address: holly.chen@nih.gov.
Papers in Europe PMC - 08Claeys KG2 papers · 2023
Department of Neurology, University Hospitals Leuven, 3000 Leuven, Belgium.
Papers in Europe PMC - 09Ellsworth BS2 papers · 2016
Department of Physiology (J.K., B.E.K., K.L.S., C.E.S., M.T., D.O.J., B.S.El.), Southern Illinois University, Carbondale, Illinois 62901-6523; Department of Zoology and Physiology (B.S.Ed., A.M.N.), University of Wyoming, Laramie, Wyoming 82071; and Department of Molecular and Integrative Physiology (L.B.N., L.T.R.), University of Illinois at Urbana-Champaign, Urbana, Illinois 61801.
Papers in Europe PMC - 10Gao L2 papers · 2025
School of Computer Science and Technology, Xidian University, Xi'an, People's Republic of China.
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. 2 observational studies 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
2 observational studies match 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.
"Combined pituitary hormone deficiencies, genetic forms" OR "Familial congenital hypopituitarism" OR "Multiple pituitary hormone deficiencies, genetic forms" OR "genetic hypopituitarism" OR "pituitary hormone deficiency, combined"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Combined pituitary hormone deficiencies, genetic forms" OR "Familial congenital hypopituitarism" OR "Multiple pituitary hormone deficiencies, genetic forms" OR "genetic hypopituitarism" OR "pituitary hormone deficiency, combined" OR "FOXA2" OR "HESX1" OR "TCF7L1" OR "pituitary gland disorder" OR "non-acquired pituitary hormone deficiency"
Recall-expansion terms: FOXA2, HESX1, TCF7L1, pituitary gland disorder, non-acquired pituitary hormone deficiency
Study-type breakdown: 0 interventional · 2 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 2026-07-27T04:46:25.843Z