ORPHA:10
48,XXYY syndrome
Publications
97
46.4th percentile
Trials
0
Interventional, condition-specific
Researchers
441
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare sex chromosome number anomaly disorder characterized, genetically, by the presence of an extra X and Y chromosome in males and, clinically, by tall stature, dysfunctional testes associated with infertility and insufficient testosterone production, cognitive, affective and social functioning impairments, global , and an increased risk of malformations.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0015028
- UMLS:C2936741
- NCIT:C89801
Additional Mondo synonyms (2)
48, XXYY Syndrome · 48, XXYY 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
97 matched papers (45 in last 10 years) Source
- Phenotype characterisedPresent
61 HPO annotations (e.g. Azoospermia; Abnormal speech pattern; Decreased testicular size) 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)
61
Associated phenotypes · MONDO:0015028
- Azoospermia
- Abnormal speech pattern
- Decreased testicular size
- Blepharophimosis
- Taurodontia
Showing 5 of 61 — 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 2026-07-27
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?
97
97 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=3967) is 59.
97 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).
45 in the last 10 years · high confidence · 46.4th percentile (publications denominator)
Phrase hits: 97 · MeSH hits: 0
Who's working on it?
441
Distinct author names in 97 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.
- 01Tartaglia N9 papers · 2026
Department of Pediatrics, University of Colorado Denver, School of Medicine, Aurora, Colorado, USA. tartaglia.nicole@tchden.org
Papers in Europe PMC - 02Howell S8 papers · 2026
Department of Pediatrics, University of Colorado School of Medicine, 13123 East 16th Avenue, Aurora, CO 80045, USA; Developmental Pediatrics, Children's Hospital Colorado, University of Colorado School of Medicine, 13123 East 16th Avenue B140, Aurora, CO 80045, USA.
Papers in Europe PMC - 03Davis S5 papers · 2026
Department of Pediatrics, University of Colorado School of Medicine, 13123 East 16th Avenue, Aurora, CO 80045, USA; Department of Endocrinology, Children's Hospital Colorado, University of Colorado School of Medicine, 13123 East 16th Avenue B265, Aurora, CO 80045, USA.
Papers in Europe PMC - 04Ross J5 papers · 2026
Department of Pediatrics, Thomas Jefferson University School of Medicine, 833 Chestnut Street, Philadelphia, PA 19107, USA; Pediatric Endocrinology, Nemours A.I. DuPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USA.
Papers in Europe PMC - 05Bothwell S3 papers · 2026
eXtraOrdinarY Kids Clinic and Research Team, Children's Hospital of Colorado, Colorado, Aurora, USA.
Papers in Europe PMC - 06Swenson K3 papers · 2026
eXtraOrdinarY Kids Clinic and Research Team, Children's Hospital of Colorado, Colorado, Aurora, USA.
Papers in Europe PMC - 07Tartaglia NR3 papers · 2023
Developmental Pediatrics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.
Papers in Europe PMC - 08Ayari N2 papers · 2013Papers in Europe PMC
- 09Barbería JJ2 papers · 1990
Departamento de Medicina Interna, Hospital de Navarra.
Papers in Europe PMC - 10Carl A2 papers · 2025
eXtraOrdinarY Kids Clinic and Research Team, Children's Hospital of Colorado, Colorado, Aurora, USA.
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 9 September 2026 · last trial check 9 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 20 · dropped 40 · fetched 2026-07-27
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 (20)
- ctis·2025-520678-20-00·11·Topical Clobetasol Propionate for Inflammatory Hand osteoarthritis: A randomized trial versus placebo.(PROCLAME)
skipped — Beyond per-disease secondary LLM cap
- ctis·2025-524002-16-00·Authorised, ongoing·A Phase 3, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of Pridopidine in Participants with Amyotrophic Lateral Sclerosis
skipped — Beyond per-disease secondary LLM cap
- ctis·2025-524573-16-00·Authorised, ongoing·OPTIMAL CARE WITH GUSELKUMAB IN CROHN’S DISEASE
skipped — Beyond per-disease secondary LLM cap
- ctis·2025-523975-48-00·Expired·EVALUATING THE EFFICACY AND SAFETY OF MET097, A FULLY-
BIASED ULTRA LONG-ACTING GLP-1 RA IN PEOPLE WITH
OVERWEIGHT OR OBESITY AND TYPE 2 DIABETES: A PHASE 3,
MULTI-CENTER RANDOMIZED PLACEBO-CONTROLLED TRIAL
(VESPER-5)
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-519304-28-00·Authorised, ongoing·A randomized, Phase 3, open-label study to investigate pharmacokinetics, safety, and efficacy of subcutaneous compared to intravenous frexalimab in adult participants with multiple sclerosis.
skipped — Beyond per-disease secondary LLM cap
- ctis·2025-524877-18-00·Authorised·Pilot Study - Safety and Efficacy of Dalbavancin in Early Outpatient Treatment of Erysipelas and Limited Cellulitis
skipped — Beyond per-disease secondary LLM cap
- ctis·2025-521683-35-00·Authorised, ongoing·GUselkumAb inteRvention and DIet evaluAtioN for pouchitis
skipped — Beyond per-disease secondary LLM cap
- ctis·2025-521475-31-00·Authorised, ongoing·Prestige 2- RimegePant in RElation to obeSiTy in miGainE
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-520127-89-00·Authorised·GASPS Study: General Anaesthesia vs Spinal anaesthesia: Patient outcomes and Success in Outpatient primary total knee and hip Arthroplasty
skipped — Beyond per-disease secondary LLM cap
- ctis·2025-522462-73-00·Authorised·ILHEP : Effect of perioperative Intravenous Lidocaine on postoperative opioid related-side effects after open HEPatectomy: a multicentre prospective randomized controlled study
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-511790-30-00·Authorised·APICALE - Cervical facet injection of corticosteroids for the management of cervicobrachialgia : protocol for a randomized pilot study
skipped — Beyond per-disease secondary LLM cap
- ctis·2025-522410-23-00·Authorised·Botulinum toxin in open abdomen closure. A multicentric randomized controlled single-blind clinical trial to evaluate the efficacy of early administration of botulinum toxin for primary midline closure in patients with an open abdomen.
skipped — Beyond per-disease secondary LLM cap
- ctis·2025-522381-68-00·Authorised, ongoing·Intrathecal drug delivery systems versus comprehensive medical management for severe cancer pain: a randomized controlled trial
skipped — Beyond per-disease secondary LLM cap
- ctis·2025-523037-25-00·Authorised, recruiting·A Phase 2, Multi-center, Randomized, Dose-Ranging, Placebo-Controlled, Double-blind Study of the Relaxin Agonist R2R01 in Patients at High Risk for Cardiac Surgery Associated - Acute Kidney Injury.
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-511807-41-01·Authorised·TIC-TAC-SAM « Comparison of two strategies of etoposide initiation in severe sporadic hemophagocytic lymphohistiocytosis in intensive care: a randomized trial »
skipped — Beyond per-disease secondary LLM cap
- ctis·2025-524872-51-00·Authorised, ongoing·A multicentre randomized double-blind placebo-controlled 48-week superiority study to compare the efficacy and safety of rituximab versus placebo in rheumatoid arthritis-associated interstitial lung disease - the BELLRA trial.
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-520131-33-00·Authorised·Effect of H2 inhalation therapy on early recurrence after atrial fibrillation ablation. Multicenter, open-label, randomized phase II controlled trial.
skipped — Beyond per-disease secondary LLM cap
- ctis·2025-521286-27-00·Authorised, ongoing·INCA000585-201 - A PHASE 2A, OPEN-LABEL, MULTI-CENTER STUDY OF TAFASITAMAB IN ADULT PARTICIPANTS WITH AUTOIMMUNE BLOOD CELL DISORDERS
skipped — Beyond per-disease secondary LLM cap
- ctis·2025-522519-40-00·Authorised, ongoing·A Phase 2/3, Randomized, Active-Controlled, Open-Label (Phase 2) and Double-Blind (Phase 3) Study to Evaluate the Antiretroviral Activity, Safety, and Tolerability of Islatravir (ISL) and Ulonivirine (ULO) Once Weekly Compared With Bictegravir/Emtricitabine/Tenofovir Alafenamide (BIC/FTC/TAF) Once Daily in Treatment-Naïve Adult Participants Living With HIV 1
skipped — Beyond per-disease secondary LLM cap
- ctis·2025-522729-36-00·Authorised, recruiting·Phase 1/2 Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Antiviral Activity of GS-4321 in Healthy Participants and Participants With Chronic Hepatitis Delta.
skipped — Beyond per-disease secondary LLM cap
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,XXYY 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,XXYY syndrome" OR "48, XXYY Syndrome")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"48,XXYY syndrome" OR "48, XXYY 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 2026-07-26T02:14:44.864Z