RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:95494

Combined pituitary hormone deficiencies, genetic forms

low confidenceDisorder

Also known as: Familial congenital hypopituitarism · Multiple pituitary hormone deficiencies, genetic forms

Publications

22,217

Trials

0

Interventional, condition-specific

Researchers

715

Distinct authors in sample

Gene link

FOXA2, HESX1, TCF7L1

Strong

Readiness

4/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Strong — FOXA2, HESX1, TCF7L1

  2. LiteraturePresent

    22,217 matched papers (11,717 in last 10 years) Source

  3. Phenotype characterisedPresent

    314 HPO annotations (e.g. Delayed puberty; Decreased response to growth hormone stimulation test; Abnormally high-pitched voice) Source

  4. Animal modelPresent

    13 genotype models (Mus musculus, Rattus norvegicus, Danio rerio) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

314

Associated phenotypes · MONDO:0013099

  • Delayed puberty
  • Decreased response to growth hormone stimulation test
  • Abnormally high-pitched voice
  • Neonatal hypoglycemia
  • Prominent forehead

Showing 5 of 314 — open Monarch for the full list.

Animal models (Monarch / Alliance)

13

Model associations linked to this Mondo ID

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?

22,217

22,217 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

22,217 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).

11,717 in the last 10 years · low confidence

Phrase hits: 88 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Brue T3 papers · 2016

    Aix-Marseille Université, CNRS, CRN2M UMR 7286, 13344, Marseille Cedex 15, France.

    Papers in Europe PMC
  2. 02
    Amberger JS2 papers · 1994
    Papers in Europe PMC
  3. 03
    Annerén G2 papers · 1998
    Papers in Europe PMC
  4. 04
    Bashamboo A2 papers · 2023

    Human Developmental Genetics Unit, Institute Pasteur, Paris, France.

    Papers in Europe PMC
  5. 05
    Bignon-Topalovic J2 papers · 2023

    Human Developmental Genetics Unit, Institute Pasteur, Paris, France.

    Papers in Europe PMC
  6. 06
    Brauner R2 papers · 2023

    Fondation Ophtalmologique Adolphe de Rothschild and Université Paris Descartes, Paris, France.

    Papers in Europe PMC
  7. 07
    Chen 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
  8. 08
    Claeys KG2 papers · 2023

    Department of Neurology, University Hospitals Leuven, 3000 Leuven, Belgium.

    Papers in Europe PMC
  9. 09
    Ellsworth 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
  10. 10
    Gao 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 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.

low 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.

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.

Open the complete matched search on ClinicalTrials.gov

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 Combined pituitary hormone deficiencies, genetic forms — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("FOXA2" OR "FOXA2 syndrome" OR "FOXA2-related" OR "HESX1" OR "HESX1 syndrome" OR "HESX1-related" OR "TCF7L1" OR "TCF7L1 syndrome" OR "TCF7L1-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 2 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 multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (22217) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T04:46:25.843Z