ORPHA:90795
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Also known as: CAH due to 11-beta-hydroxylase deficiency · CYP11B1 deficiency
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
111
55th percentile
Trials
0
Interventional, condition-specific
Researchers
584
Distinct authors in sample
Gene link
CYP11B1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare form of classic adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008729
- MeSH:C535978
- OMIM:202010
- UMLS:C0268292
- NCIT:C131085
Additional Mondo synonyms (1)
adrenal hyperplasia, congenital, due to 11-beta-hydroxylase 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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — CYP11B1
- LiteraturePresent
111 matched papers (55 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 trialPartial
None under the specific name; 47 for broader category congenital adrenal hyperplasia
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 (CYP11B1).
GenCC classification: Definitive.
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?
111
111 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.
111 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).
55 in the last 10 years · high confidence · 55th percentile (publications denominator)
Phrase hits: 111 · MeSH hits: 0
Who's working on it?
584
Distinct author names in 111 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.
- 01Arlt W5 papers · 2019
Centre for Endocrinology, Diabetes, and Metabolism, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK.
Papers in Europe PMC - 02Claahsen-van der Grinten HL5 papers · 2026
Department of Pediatrics, Division of Pediatric Endocrinology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.
Papers in Europe PMC - 03Krone N5 papers · 2015
Division of Pediatric Endocrinology, Department of Pediatrics, Christian-Albrechts-Universität zu Kiel, Universitätskinderklinik, Schwanenweg 20, D-24105 Kiel, Germany.
Papers in Europe PMC - 04van Herwaarden AE5 papers · 2026
Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands.
Papers in Europe PMC - 05Benderly A4 papers · 1986Papers in Europe PMC
- 06Faradz SMH4 papers · 2024
Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia.
Papers in Europe PMC - 07Grötzinger J4 papers · 2020
Biochemical Institute, Christian-Albrecht-University of Kiel, Kiel, Germany.
Papers in Europe PMC - 08Riepe FG4 papers · 2020
Division of Pediatric Endocrinology, Department of Pediatrics, University Hospital, Schleswig-Holstein, Campus Kiel, Kiel, Germany.
Papers in Europe PMC - 09Sippell WG4 papers · 2009Papers in Europe PMC
- 10Utari A4 papers · 2024
Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia.
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). 47 trials are registered for congenital adrenal hyperplasia, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
47 interventional trials matched congenital adrenal hyperplasia, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: congenital adrenal hyperplasia
47
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT04252001·NOT YET RECRUITING·Growing up With the Young Endocrine Support System (YESS!)
Conditions: Congenital Adrenal Hyperplasia · Hypogonadotropic Hypogonadism · Growth Hormone Deficiency · Combined Pituitary Hormone Deficiency·Matched via name phrase
- NCT06712823·RECRUITING·An Extension Study to Evaluate Safety and Efficacy of Atumelnant in Participants With Congenital Adrenal Hyperplasia
Conditions: Congenital Adrenal Hyperplasia · Classic Congenital Adrenal Hyperplasia·Matched via name phrase
- NCT05669950·RECRUITING·A Trial of Lu AG13909 in Participants With Congenital Adrenal Hyperplasia
Conditions: Congenital Adrenal Hyperplasia·Matched via name phrase
- NCT07159841·RECRUITING·A Study in Pediatric Participants With Congenital Adrenal Hyperplasia (Balance-CAH)
Conditions: Congenital Adrenal Hyperplasia · Classic Congenital Adrenal Hyperplasia·Matched via name phrase
- NCT03760835·RECRUITING·Congenital Adrenal Hyperplasia Once Daily Hydrocortisone Treatment
Conditions: Congenital Adrenal Hyperplasia·Matched via name phrase
- NCT07536269·NOT YET RECRUITING·Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Crinecerfont in Participants With Classic Congenital Adrenal Hyperplasia (CAH) Who Are Less Than 4 Years Old
Conditions: Congenital Adrenal Hyperplasia·Matched via name phrase
- NCT07144163·RECRUITING·A Study to Evaluate Atumelnant in Adults With Congenital Adrenal Hyperplasia
Conditions: Congenital Adrenal Hyperplasia · Classic Congenital Adrenal Hyperplasia·Matched via name phrase
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 2026-07-26Likely covered — the policy lists Congenital adrenal hyperplasia as a category (Group 2), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.
Group 2 — long-term / lifelong lower-cost interventions
NPRD envisages State Government support for dietary formulae, hormones, and other lower-cost interventions. This is a different route from the central CoE ₹50 lakh pathway; ask your state health department and a CoE which channel applies.
Central CoE funding may also apply depending on current rules — confirm with a notified Centre of Excellence. Do not assume the ₹50 lakh ceiling covers Group 2 by default. Verify
Centres of Excellence (15)
- All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
- Maulana Azad Medical College — New Delhi, Delhi
- Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
- Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
- Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
- King Edward Memorial Hospital — Mumbai, Maharashtra
- Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
- Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
- Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
- All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
- Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
- All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
- Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
- All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
- Assam Medical College & Hospital — Dibrugarh, Assam
Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/
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 adrenal hyperplasia due to 11-beta-hydroxylase deficiency" OR "CAH due to 11-beta-hydroxylase deficiency" OR "CYP11B1 deficiency" OR "adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency"
MeSH descriptor terms unioned into the query: Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency" OR "CAH due to 11-beta-hydroxylase deficiency" OR "CYP11B1 deficiency" OR "adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency" OR "CYP11B1" OR "chronic primary adrenal insufficiency"
Recall-expansion terms: CYP11B1, chronic primary adrenal insufficiency
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"congenital adrenal hyperplasia"
Query health: suspect — strategies attempted: phrase, mesh, 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 2026-07-27T03:55:31.598Z