ORPHA:96263
48,XXXY syndrome
Publications
7
21.1th percentile
Trials
0
Interventional, condition-specific
Researchers
40
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019928
- UMLS:C0265498
- NCIT:C89799
Additional Mondo synonyms (1)
48, XXXY syndrome
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
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
7 matched papers (5 in last 10 years) Source
- Phenotype characterisedPresent
62 HPO annotations (e.g. Joint hypermobility; Hypogonadism; Infertility) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
62
Associated phenotypes · MONDO:0019928
- Joint hypermobility
- Hypogonadism
- Infertility
- Mild intellectual disability
- Language impairment
Showing 5 of 62 — 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
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
7
7 papers have ever been indexed 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=3967) is 59.
7 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).
5 in the last 10 years · high confidence · 21.1th percentile (publications denominator)
Phrase hits: 7 · MeSH hits: 0
Who's working on it?
40
Distinct author names in 7 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.
- 01Andreescu N1 paper · 2024
Department of Microscopic Morphology, Discipline of Genetics, "Victor Babeş" University of Medicine and Pharmacy, 300041 Timisoara, Romania.
Papers in Europe PMC - 02Atik T1 paper · 2016
Department of Pediatrics, Ege University School of Medicine, İzmir, Turkey.
Papers in Europe PMC - 03Avignone S1 paper · 2015
Neuroradiology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. avignone.sabrina@gmail.com.
Papers in Europe PMC - 04Bonarrigo F1 paper · 2015
Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milan, Italy. luna.fra86@hotmail.it.
Papers in Europe PMC - 05Bos-Roubos AG1 paper · 2021
Center of Excellence for Neuropsychiatry, Vincent van Gogh, 5803 DN Venray, The Netherlands.
Papers in Europe PMC - 06Candeias C1 paper · 2021
Cytogenetics Unit, Centro de Genética Médica Doutor Jacinto Magalhães/Centro Hospitalar Universitário do Porto Porto Portugal.
Papers in Europe PMC - 07Çoğulu Ö1 paper · 2016
Department of Pediatrics, Ege University School of Medicine, İzmir, Turkey.
Papers in Europe PMC - 08Damásio J1 paper · 2021
Neurology Department Hospital de Santo António, Centro Hospitalar Universitário do Porto Porto Portugal.
Papers in Europe PMC - 09Datar R1 paper · 2018
1 Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.
Papers in Europe PMC - 10Davidse K1 paper · 2021
Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands.
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).
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.
high 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.
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 60 · after dedupe 60 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 60 · 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).
Uncertain / not reviewed (60)
- ctis·2025-524688-19-00·Authorised·A Phase III Randomized, Double-blind, Placebo-controlled Multicenter Master Protocol to Evaluate the Efficacy and Safety of Elecoglipron in Participants with Obesity or Overweight with or without Type 2 Diabetes Mellitus (Embold)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524918-28-00·Authorised·A Randomized, Double-Blind, Placebo-Controlled Study to Investigate the Efficacy and Safety of SIR9900 in Patients with VEXAS Syndrome (SIVEX)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523933-24-00·Authorised·A Randomized, Open-label, Parallel-group Phase III Study to Evaluate the Efficacy, Safety, and Tolerability of Elecoglipron Compared with Oral Semaglutide in Adults with Type 2 Diabetes Mellitus (Eluminate-2)
skipped — LLM skipped (--skip-llm)
- ctis·2026-526224-48-02·Authorised·Bioequivalence study of Vitamin D3 Pharma Patent 20,000 IU and the Vigantol 20,000 IU oral drops solutions and assessment of bioavailability in healthy volunteers
skipped — LLM skipped (--skip-llm)
- ctis·2026-525876-24-00·Authorised·Phase I/II clinical trial on the use of central nervous system administrations of CART-NKG2D or NKIL15 cells in children, adolescent and young adults with recurrent/refractory high grade Central Nervous System tumours (CINK-CAR)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523725-17-00·Authorised·Inducing durable immunological control of HIV-1 through administration of long-acting broadly neutralizing antibodies and low-dose anti-PD-1 – a randomized, double-blinded, placebo-controlled trial (the IDUNN trial)
skipped — LLM skipped (--skip-llm)
- ctis·2026-526036-38-00·Authorised·Giving Upfront Anti-p40 to Reduce toxicity from Dual Immune Checkpoint Inhibition in MESOthelioma
skipped — LLM skipped (--skip-llm)
- ctis·2026-526581-24-01·Authorised·Oral versus Intravenous Tranexamic Acid for Blood Loss Prevention in Off-Pump Coronary Artery Bypass Surgery: A
Randomised Non-Inferiority Trial (TRANSCAB Study)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523858-13-01·Authorised·High-dose Insulin Euglycemic Therapy in Non-Toxic Acute Cardiogenic Shock.
skipped — LLM skipped (--skip-llm)
- ctis·2025-523726-40-00·Authorised, ongoing·A PHASE III, OPEN-LABEL, SINGLE-ARM, MULTI-CENTER STUDY TO EVALUATE THE SAFETY AND USE OF AN ON-BODY DELIVERY SYSTEM FOR THE SUBCUTANEOUS HOME ADMINISTRATION OF OCRELIZUMAB IN PATIENTS WITH MULTIPLE SCLEROSIS
skipped — LLM skipped (--skip-llm)
- ctis·2026-526167-38-00·Authorised·ALBUMINUS: Dose reduction of human albumin during large-volume paracentesis in patients with cirrhosis
skipped — LLM skipped (--skip-llm)
- ctis·2026-526324-48-00·Authorised·Exploratory study of the performance of dynamic PET-CT acquisition to predict 6-month morphological response in patients with hepatocellular carcinoma treated with selective internal radiotherapy
skipped — LLM skipped (--skip-llm)
- ctis·2025-524879-23-00·Authorised·Epcoritamab in Relapsed/Refractory Marginalzone Lymphoma - A MULTICENTER OPEN LABEL SINGLE-ARM PHASE II STUDY (EPOS-1)
skipped — LLM skipped (--skip-llm)
- ctis·2025-522900-26-00·Authorised·Tacrolimus as prophylaxis of post-ERCP pancreatitis: a DPSG (Dutch Pancreatitis Study Group) multicenter, double-blind, randomized, placebo-controlled study.
skipped — LLM skipped (--skip-llm)
- ctis·2025-524640-35-00·Authorised·A Study to Evaluate the Long-term Safety and Efficacy of Long-acting Antibodies as Single Agents and in Combinations in Participants with Inflammatory Bowel Disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-522176-86-01·Authorised·A Phase 2b/3, Randomized, Double-Blinded, Placebo Controlled Study ChecKing the Efficacy and Safety of ATAciguat to Slow the Progression of VaLvular DYsfunction in Participants with Moderate Calcific Aortic Valve STenosis
(KATALYST-AV)
skipped — LLM skipped (--skip-llm)
- ctis·2025-522301-37-00·Authorised, ongoing·A multicenter, randomized, double-blind, placebo-controlled, dose-ranging Phase IIb study to assess the efficacy and safety of GIA632 in adult participants with non-segmental vitiligo followed by an extension period
skipped — LLM skipped (--skip-llm)
- ctis·2026-525355-93-00·Authorised·PHASE III, OPEN-LABEL, RANDOMIZED, CONTROLLED, NON-INFERIORITY CLINICAL-TRIAL TO ASSESS THE EFFICACY AND SAFETY OF SHORT OUTPATIENT AMOXICILLIN REGIMENS IN CHILDREN WITH ACUTE STREPTOCOCCAL PHARYNGOTONSILLITIS (STOP – TRIAL)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524363-20-01·Authorised·Phase II, Single-Center, Randomized, Double-Blind, Placebo-Controlled Clinical Trial To Evaluate The Safety And Efficacy Of Dasatinib To Reduce HIV-1 Reservoir, Chronic Inflammation, And Immune Senescence In People With HIV On Long-Term Antiretroviral Treatment.
skipped — LLM skipped (--skip-llm)
- ctis·2025-523675-39-00·Authorised, recruiting·A Phase 3, Randomized, Double-Blind, Placebo-Controlled, 3-Arm Study to Investigate the Safety and Efficacy of Efimosfermin Alfa in Participants With Biopsy-Confirmed F2- or F3-Stage Metabolic Dysfunction-Associated Steatohepatitis (MASH) (ZENITH-1)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524741-28-00·Authorised·BIOlogical treatment GRAdual Interval Longing in severe Asthma (BIO-GRAIL)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524395-30-00·Authorised·Discontinuation or Continuation of SGLT-2 Inhibitors Before Cardiac Surgery: Impact on Postoperative Cardiovascular Outcomes – DISCO Study
skipped — LLM skipped (--skip-llm)
- ctis·2025-523555-66-00·Authorised·A Phase 3, Randomized, Double-Blind, Active-Control Study of Pelabresib (DAK539) and Ruxolitinib vs. Placebo and Ruxolitinib in Adult Patients with Myelofibrosis who are JAK inhibitor naive
skipped — LLM skipped (--skip-llm)
- ctis·2024-516796-33-00·Authorised, ongoing·Efficacy of an anti-TSLP monoclonal antibody in the management of chronic bronchial disease induced by bronchiolitis obliterans syndrome in allogeneic hematopoietic stem cells transplantation recipients.
skipped — LLM skipped (--skip-llm)
- ctis·2025-524367-20-00·Authorised, ongoing·An open-label, single-arm extension study to evaluate the long-term safety, tolerability, and efficacy of KL1333 (napazimone) in patients with primary mitochondrial disease
skipped — LLM skipped (--skip-llm)
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 48,XXXY syndrome — check Associations / patient organisations on that page.
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.
"48,XXXY syndrome" OR "48, XXXY syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"48,XXXY syndrome" OR "48, XXXY syndrome"
Study-type breakdown: 0 interventional · 0 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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T05:00:26.113Z