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ORPHA:881

Turner syndrome

medium confidenceDisorder

Also known as: 45,X syndrome · 45,X/46,XX syndrome

Publications

25,843

97.5th percentile

Trials

47

Interventional, condition-specific

Researchers

1,165

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare chromosomal anomaly syndrome characterized by complete or partial loss of an X chromosome in phenotypic females, clinically manifesting with short stature, primary ovarian insufficiency as well as cardiovascular, renal, liver, autoimmune diseases, hearing loss and neurocognitive abnormalities.

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 (4)

45,X gonadal dysgenesis · 45,X0 syndrome · 45X syndrome · karyotype 45, X

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 identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    25,843 matched papers (11,929 in last 10 years) Source

  3. Phenotype characterisedPresent

    454 HPO annotations (e.g. Abnormal pinna morphology; Short toe; Celiac disease) Source

  4. Animal modelNot found

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

  5. Orphan designationPresent

    2 FDA designations (1 FDA orphan-indication approval) — e.g. Oxandrolone Source

  6. Interventional trialPresent

    47 matched on ClinicalTrials.gov (12 recruiting in sample)

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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

454

Associated phenotypes · MONDO:0019499

  • Abnormal pinna morphology
  • Short toe
  • Celiac disease
  • Cholestatic liver disease
  • Scoliosis

Showing 5 of 454 — 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)

2

Designations · 1 with FDA orphan-indication approval

  • FDA OxandroloneShort stature Turner's Syndrome · 1990-07-05 · Not FDA Approved for Orphan Indication
  • FDA Somatropin (Humatrope)Short stature Turner Syndrome · 1990-05-08

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

13

Drugs / clinical candidates · MONDO_0019499

CTD chemicals (MyDisease.info)

2 associated chemicals · 56 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Chromium · marker/mechanism
  • Thiobarbituric Acid Reactive Substances · marker/mechanism

Pathways: Arginine biosynthesis; Arginine and proline metabolism; Tryptophan metabolism; Glyoxylate and dicarboxylate metabolism; Metabolic pathways; Carbon metabolism; Calcium signaling pathway; Cytokine-cytokine receptor interaction

MyDisease.info · MONDO:0019499

Literature

Is anyone studying this?

25,843

25,843 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.

25,843 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).

11,929 in the last 10 years · medium confidence · 97.5th percentile (publications denominator)

Phrase hits: 25,843 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,165

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
    Li L4 papers · 2026

    Yulin Women and Children Health Care Hospital, Yulin, Guangxi, China.

    Papers in Europe PMC
  2. 02
    Gutmark-Little I3 papers · 2026

    Division of Pediatric Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

    Papers in Europe PMC
  3. 03
    Huang Y3 papers · 2026

    Department of Otorhinolaryngology.

    Papers in Europe PMC
  4. 04
    Jamalinia M3 papers · 2026

    Gastroenterohepatology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.

    Papers in Europe PMC
  5. 05
    Kim JH3 papers · 2026

    Department of Pediatrics, Asan Medical Centre Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea. Electronic address: pedkjh@amc.seoul.kr.

    Papers in Europe PMC
  6. 06
    Li Y3 papers · 2026

    Department of Gynecological Endocrinology, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing, China.

    Papers in Europe PMC
  7. 07
    Liu X3 papers · 2026

    Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Reproductive Medicine Center, Changsha Hospital for Maternal & Child Health Care, Hunan Normal University, 416 Chengnan Road, Yuhua District, Changsha, 410007, China.

    Papers in Europe PMC
  8. 08
    Lonardo A3 papers · 2026

    Department of Internal Medicine, Azienda Ospedaliero-Universitaria Di Modena (-2023), Modena, Italy.

    Papers in Europe PMC
  9. 09
    Prakash SK3 papers · 2026

    Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA.

    Papers in Europe PMC
  10. 10
    Sowińska-Przepiera E3 papers · 2026

    Pediatric, Adolescent Gynecology Clinic, Department of Gynecology, Endocrinology and Gynecological Oncology, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, 71-252 Szczecin, Poland.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

47

interventional trials for this specific condition

47 interventional trials matched this specific condition name; 12 currently recruiting in our sample.

Data as of 11 September 2026

47 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 97th percentile).

medium confidence · 97th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

58 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.

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 106 · after dedupe 103 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 103 · dropped 0 · fetched 2026-07-29

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).

Uncertain / not reviewed (103)

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 Turner syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Directly listed under NPRD Group 2.

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.

"Turner syndrome" OR "45,X syndrome" OR "45,X/46,XX syndrome" OR "45,X gonadal dysgenesis" OR "45,X0 syndrome" OR "45X syndrome" OR "karyotype 45, X"

Run this search on Europe PMC

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

"Turner syndrome" OR "45,X syndrome" OR "45,X/46,XX syndrome" OR "45,X gonadal dysgenesis" OR "45,X0 syndrome" OR "45X syndrome" OR "karyotype 45, X"

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: 47 interventional · 58 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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T15:44:20.006Z