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ORPHA:199296

Congenital isolated ACTH deficiency

low confidenceDisorder

Publications

1,182

Trials

0

Interventional, condition-specific

Researchers

1,221

Distinct authors in sample

Gene link

TBX19

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare endocrine disease characterized by , prolonged cholestatic jaundice, and . Typical are low plasma ACTH and cortisol levels in the absence of structural pituitary defects, and sometimes low partial growth hormone deficiency is associated.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

adrenocorticotropic hormone deficiency · congenital isolated adrenocorticotropic hormone deficiency (disease)

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

    Definitive — TBX19

  2. LiteraturePresent

    1,182 matched papers (855 in last 10 years) Source

  3. Phenotype characterisedPresent

    18 HPO annotations (e.g. Seizure; Fasting hypoglycemia; Cholestasis) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) 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 (TBX19).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

18

Associated phenotypes · MONDO:0008720

  • Seizure
  • Fasting hypoglycemia
  • Cholestasis
  • Decreased circulating cortisol level
  • Adrenocorticotropic hormone deficiency

Showing 5 of 18 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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)

3 associated chemicals. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Dexamethasone · therapeutic
  • Glucocorticoids · therapeutic
  • Hydrocortisone · therapeutic

MyDisease.info · MONDO:0008720

Literature

Is anyone studying this?

1,182

1,182 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,182 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).

855 in the last 10 years · low confidence

Phrase hits: 544 · MeSH hits: 13

Open Europe PMC search

Who's working on it?

1,221

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.

  1. 01
    van Santen HM5 papers · 2025

    Department of Pediatric Endocrinology, Wilhelmina Children's Hospital, Utrecht, the Netherlands.

    Papers in Europe PMC
  2. 02
    Wang F5 papers · 2026

    Department of Pharmacy, Affiliated Nanjing Brain Hospital of Nanjing Medical University, Nanjing, China.

    Papers in Europe PMC
  3. 03
    Wang X5 papers · 2026

    Department of Pulmonary and Critical Care Medicine, Affiliated Changzhou Second Hospital of Nanjing Medical University, 468 Yanling Middle Road, Changzhou, Jiangsu, 213000, China. xiaohuawang001@foxmail.com.

    Papers in Europe PMC
  4. 04
    Bando H4 papers · 2026

    Division of Diabetes and Endocrinology, Kobe University Hospital, Kobe, Japan.

    Papers in Europe PMC
  5. 05
    Brue T4 papers · 2026

    Aix-Marseille Université, Institut National de la Santé et de la Recherche Médicale (INSERM), U1251, Marseille Medical Genetics (MMG), Faculté des Sciences médicales et paramédicales, Institut Marseille Maladies Rares (MarMaRa), Marseille, France.

    Papers in Europe PMC
  6. 06
    Fukuda I4 papers · 2024

    Dept. of Endocrinology, Diabetes and Metabolism, Graduate School of Medicine, Nippon Medical School, Tokyo 113-8603, Japan.

    Papers in Europe PMC
  7. 07
    Iguchi G4 papers · 2026

    Division of Diabetes and Endocrinology, Kobe University Hospital, Kobe, Japan.

    Papers in Europe PMC
  8. 08
    Ogawa W4 papers · 2026

    Division of Diabetes and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.

    Papers in Europe PMC
  9. 09
    Ohara N4 papers · 2021

    Department of Endocrinology and Metabolism, Uonuma Kikan Hospital, Minamiuonuma, Niigata, Japan.

    Papers in Europe PMC
  10. 10
    Wang Y4 papers · 2026

    Department of Pulmonary and Critical Care Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 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. 1 observational study 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

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.

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 Congenital isolated ACTH deficiency — 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.

("Congenital isolated ACTH deficiency" OR "adrenocorticotropic hormone deficiency" OR "congenital isolated adrenocorticotropic hormone deficiency (disease)") OR (MESH:"Adrenocorticotropic hormone deficiency") OR ("TBX19" OR "TBX19 syndrome" OR "TBX19-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Adrenocorticotropic hormone deficiency

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Congenital isolated ACTH deficiency" OR "adrenocorticotropic hormone deficiency" OR "congenital isolated adrenocorticotropic hormone deficiency (disease)"

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; 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
  • Publication count (1182) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T09:11:25.029Z