ORPHA:199247
Corticosteroid-binding globulin deficiency
Also known as: Transcortin deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
74
48th percentile
Trials
0
Interventional, condition-specific
Researchers
434
Distinct authors in sample
Gene link
SERPINA6
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Corticosteroid-binding globulin deficiency is a rare, genetic, adrenal disease characterized by diminished corticosteroid-binding capacity associated with normal or low plasma corticosteroid-binding globulin concentration and reduced total plasma cortisol levels. Patients typically present chronic pain, fatigue and hypo/hypertension.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012675
- OMIM:611489
- UMLS:C1852529
Additional Mondo synonyms (3)
CBG deficiency · corticosteroid-binding globulin deficiency · transcortin deficiency
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 — SERPINA6
- LiteraturePresent
74 matched papers (37 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 (SERPINA6).
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?
74
74 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.
74 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).
37 in the last 10 years · high confidence · 48th percentile (publications denominator)
Phrase hits: 74 · MeSH hits: 0
Who's working on it?
434
Distinct author names in 74 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.
- 01Torpy DJ13 papers · 2026
Medizinische Klinik und Poliklinik III (S.R.B., A.B.), Universitätsklinikum Dresden, 01307 Dresden, Germany; Department of Endocrinology and Diabetes (S.R.B.), King's College London, London WC2R 2LS, United Kingdom; Department of Internal Medicine I (B.A.), Endocrine and Diabetes Unit, University Hospital Würzburg, 97080 Würzburg, Germany; Comprehensive Heart Failure Center (B.A.), University of Würzburg, 97080 Würzburg, Germany; Centre for Endocrinology, Diabetes, and Metabolism (W.A.), University of Birmingham, Birmingham B15 2TT, United Kingdom; Endokrinologikum Ruhr (A.B.), 44866 Bochum, Germany; Department of Pathology and Molecular Medicine (A.D.-W.), McMaster University, Hamilton, ON L8S 4L8, Canada; Hamilton Regional Laboratory Medicine Program (A.D.-W.), Hamilton, ON L8N 4A6, Canada; Department of Internal Medicine (G.D.H.), Division of Metabolism, Endocrinology, and Diabetes, and Cancer Center, University of Michigan, Ann Arbor, Michigan 48109; Department of Clinical Science, University of Bergen, and Department of Medicine, Haukeland University Hospital (E.S.H.), 5021 Bergen, Norway; National Institutes of Health Clinical Center (D.P.M.), Bethesda, Maryland 20814; Mayo Clinic, Division of Preventive Medicine (M.H.M.), Rochester, Minnesota 55905; Eunice Kennedy Shriver National Institute of Child Health and Human Development (C.A.S.), National Institutes of Health, Bethesda, Maryland 20892; and Endocrine and Metabolic Unit (D.J.T.), Royal Adelaide Hospital, University of Adelaide, Adelaide SA 5000, Australia.
Papers in Europe PMC - 02Moisan MP7 papers · 2019
INRA, UMR 1286 PsyNuGen, CNRS 5226, Universite de Bordeaux 2, Bordeaux, France. mpmoisan@bordeaux.inra.fr
Papers in Europe PMC - 03Meyer EJ6 papers · 2026
Adelaide Medical School, University of Adelaide, Adelaide, SA 5005, Australia.
Papers in Europe PMC - 04Helbling JC5 papers · 2019
INRA, Nutrition et neurobiologie intégrée, UMR 1286, 33076 Bordeaux, France; Univ. Bordeaux, Nutrition et neurobiologie intégrée, UMR 1286, 33076 Bordeaux, France.
Papers in Europe PMC - 05Lee JH5 papers · 2026
Adelaide Medical School, University of Adelaide, Adelaide, SA 5005, Australia.
Papers in Europe PMC - 06Hammond GL4 papers · 2023
Department of Cellular and Physiological Sciences, Life Sciences Institute, University of British Columbia, Vancouver, Canada.
Papers in Europe PMC - 07Lewis JG4 papers · 2014
Canterbury Health Laboratories, Christchurch, New Zealand.
Papers in Europe PMC - 08Minni AM4 papers · 2016
Institut National de la Recherche Agronomique, Nutrition et Neurobiologie Intégrée, Unité Mixte de Recherche 1286, 33076 Bordeaux, France.
Papers in Europe PMC - 09Nenke MA4 papers · 2026
Adelaide Medical School, University of Adelaide, Adelaide, SA 5005, Australia.
Papers in Europe PMC - 10Bachmann AW3 papers · 2005Papers 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 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.
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.
"Corticosteroid-binding globulin deficiency" OR "Transcortin deficiency" OR "CBG deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Corticosteroid-binding globulin deficiency" OR "Transcortin deficiency" OR "CBG deficiency" OR "SERPINA6"
Recall-expansion terms: SERPINA6
Study-type breakdown: 0 interventional · 0 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 2026-07-27T09:09:06.117Z