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ORPHA:90794

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

high confidenceDisorder

Also known as: Classic 21-OHD CAH

Publications

3,321

90.9th percentile

Trials

1

Interventional, condition-specific

Researchers

1,112

Distinct authors in sample

Gene link

CYP21A2

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A form of adrenal hyperplasia (CAH) characterized by simple virilizing or salt wasting forms that can manifest with abnormal genital development with variable levels of virilization in females and with adrenal insufficiency in both sexes, and that presents with dehydration and (which can be lethal if left untreated) in the period, as well as hyperandrogenemia.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

21-OHD · classic 21-OHD CAH · classic congenital adrenal hyperplasia due to 21-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.”

4/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — CYP21A2

  2. LiteraturePresent

    3,321 matched papers (2,271 in last 10 years) Source

  3. Phenotype characterisedPresent

    67 HPO annotations (e.g. Gynecomastia; Elevated circulating 21-deoxycortisol concentration; Growth abnormality) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

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 (CYP21A2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

67

Associated phenotypes · MONDO:0008728

  • Gynecomastia
  • Elevated circulating 21-deoxycortisol concentration
  • Growth abnormality
  • Recurrent fever
  • Fever

Showing 5 of 67 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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

7

Drugs / clinical candidates · MONDO_0008728

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

3,321

3,321 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.

3,321 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).

2,271 in the last 10 years · high confidence · 90.9th percentile (publications denominator)

Phrase hits: 660 · MeSH hits: 8

Open Europe PMC search

Who's working on it?

1,112

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Wang Y9 papers · 2026

    Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, 100191, China. wangying02114@bjmu.edu.cn.

    Papers in Europe PMC
  2. 02
    Merke DP8 papers · 2026

    National Institutes of Health Clinical Center, Bethesda, Maryland, USA.

    Papers in Europe PMC
  3. 03
    Reisch N8 papers · 2026

    Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, LMU München, 80336 Munich, Germany.

    Papers in Europe PMC
  4. 04
    Wang X8 papers · 2026

    Xiamen Newborn Screening Center, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen, Fujian, 361102, China.

    Papers in Europe PMC
  5. 05
    Auchus RJ6 papers · 2026

    Departments of Pharmacology and Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan Medical School, Ann Arbor, Michigan, USA.

    Papers in Europe PMC
  6. 06
    Mao A6 papers · 2025

    Department of Research and Development, Berry Genomics Corporation, Beijing, 102200, China. maoaiping@berrygenomics.com.

    Papers in Europe PMC
  7. 07
    Zhang W6 papers · 2025

    Department of Endocrinology, National Health Commission (NHC) Key Laboratory of Endocrinology (Peking Union Medical College Hospital), Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.

    Papers in Europe PMC
  8. 08
    Bachega TASS5 papers · 2026

    Universidade de São Paulo Faculdade de Medicina, Hospital das Clínicas, Division of Endocrinology, Laboratory of Hormones and Molecular Genetics (LIM-42), São Paulo, Brazil

    Papers in Europe PMC
  9. 09
    Bonfig W5 papers · 2026

    Division of Pediatric Endocrinology & Diabetology, Department of Pediatrics, Technische Universität München, Munich, Germany; Division of Pediatric Endocrinology & Diabetology, Department of Pediatrics, Ludwig Maximilian Universität München, Munich, Germany.

    Papers in Europe PMC
  10. 10
    Chen X5 papers · 2026

    Department of Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting. 46 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 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

high confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: congenital adrenal hyperplasia

46

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

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.

Recruiting or not-yet-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 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Likely 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.

("Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency" OR "Classic 21-OHD CAH" OR "21-OHD") OR (MESH:"Congenital adrenal hyperplasia due to 21 hydroxylase deficiency") OR ("CYP21A2" OR "CYP21A2 syndrome" OR "CYP21A2-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency

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

"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency" OR "Classic 21-OHD CAH" OR "21-OHD" OR "Congenital adrenal hyperplasia due to 21 hydroxylase deficiency"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

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

Parent-category trials query:

"congenital adrenal hyperplasia"

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

Ingested 2026-07-27T03:55:19.199Z