ORPHA:11
Pentasomy X syndrome
Also known as: 49,XXXXX syndrome · Penta-X · Poly-X
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
2,375
Trials
0
Interventional, condition-specific
Researchers
1,092
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare sex-chromosome number anomaly characterized by the presence of five X chromosomes in females instead of the usual two. Patients present with global , , musculoskeletal abnormalities (mostly small hands and feet, camptodactyly, clinodactyly, radioulnar synostosis), and craniofacial anomalies (such as microcephaly, plagiocephaly, upslanting palpebral fissures, hypertelorism, flat nasal bridge, ear malformations, microganthia). Cardiovascular malformations can sometimes be present as well as immunoglobulin anomalies and an increased susceptibility to infections. External genitalia are generally normal but gonadal dysfunction has been reported.
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:0015228
- MeSH:C535319
- UMLS:C2937419
- NCIT:C89802
Additional Mondo synonyms (7)
49, XXXXX syndrome · Penta X Syndrome · Pentasomy type X · XXXXX syndrome · penta X syndrome · penta-X · poly-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.”
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
2,375 matched papers (478 in last 10 years) Source
- Phenotype characterisedPresent
22 HPO annotations (e.g. Abnormal cardiac septum morphology; Abnormality of immune system physiology; Hypertelorism) 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)
22
Associated phenotypes · MONDO:0015228
- Abnormal cardiac septum morphology
- Abnormality of immune system physiology
- Hypertelorism
- Strabismus
- Clinodactyly of the 5th finger
Showing 5 of 22 — 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?
2,375
2,375 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.
2,375 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).
478 in the last 10 years · low confidence
Phrase hits: 2,375 · MeSH hits: 0
Who's working on it?
1,092
Distinct author names in 200 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.
- 01Wang Y5 papers · 2026
Department of Cardiology, Luzhou People's Hospital, Luzhou, China.
Papers in Europe PMC - 02Li W4 papers · 2025
Jockey Club School of Public Health and Primary Care, The Chinese University of Hong Kong, Hong Kong, China (Hong Kong).
Papers in Europe PMC - 03
- 04Chen C3 papers · 2023
Key Laboratory of Interventional Pulmonology of Zhejiang Province, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China.
Papers in Europe PMC - 05Chen J3 papers · 2025
The First School of Medicine, School of Information and Engineering, Wenzhou Medical University, Wenzhou, China.
Papers in Europe PMC - 06Li R3 papers · 2025
Department of Child Health Care, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, 430016, China. dr_lrz@163.com.
Papers in Europe PMC - 07Liu L3 papers · 2024
Department of Cardiovascular, The First Affiliated Hospital of Heilongjiang University of Traditional Chinese Medicine, Harbin, China.
Papers in Europe PMC - 08Liu X3 papers · 2025
The First Hospital of Shanxi Medical University, Taiyuan, Shanxi, China.
Papers in Europe PMC - 09Luo J3 papers · 2025
Department of Cardiology, The Second Hospital of Shanxi Medical University, Wuyi Road, Taiyuan, Shanxi, 030000, China.
Papers in Europe PMC - 10Sun L3 papers · 2025
Department of Child Health Care, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, 430016, China.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
low 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.
Broader category pentasomy also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: pentasomy
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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
- NCT03396562·RECRUITING·The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy
Conditions: Klinefelter Syndrome · Trisomy X · XYY Syndrome · XXXY and XXXXY Syndrome·Matched via name phrase
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 58 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 58 · 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 (58)
- ctis·2025-524027-49-00·Authorised·An open-label, multicentric, phase 1 study to evaluate the safety, tolerability, and radiation dosimetry of endogenous radioligand therapy with (¹⁷⁷Lu)Lutetiumvipivotidtetraxetan in women with metastatic triple negative breast cancer (TNBC)
skipped — LLM skipped (--skip-llm)
- ctis·2024-517799-40-00·Authorised·A multicenter open-label phase II study of Cemiplimab plus chemotherapy, selected on the basis of baseline cytidine deaminase activity, in advanced squamous non-small cell lung cancer - CECYDE trial - GOIRC-04-2024
skipped — LLM skipped (--skip-llm)
- ctis·2026-525830-49-00·Authorised·A Phase 1 Randomized, Double-Blind, placebo-controlled, clinical study to evaluate safety and Pharmacokinetics, of Single Ascending Doses and Multiple Ascending Doses of AIK3a305 in Healthy Volunteers
skipped — LLM skipped (--skip-llm)
- ctis·2025-523479-49-00·Authorised, recruiting·A Phase 2a Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of MK-8690 in Adult Participants with Moderately to Severely Active Ulcerative Colitis
skipped — LLM skipped (--skip-llm)
- ctis·2022-502365-26-00·Authorised·A double-dummy, double-blind, randomized, active controlled, two-way cross-over study with 12-week treatment duration per period, to evaluate the efficacy and safety of QVM149 (indacaterol acetate / glycopyrronium bromide / mometasone furoate) compared to salmeterol xinafoate/fluticasone propionate in children from 12 years to less than 18 years of age with asthma.
skipped — LLM skipped (--skip-llm)
- ctis·2025-522957-20-00·Authorised, ongoing·A Phase 3, Randomized, Double-Blind, 48-Week Placebo-Controlled Study to Assess the Efficacy, Safety, and Tolerability of DYNE-101 Administered to Participants with Myotonic Dystrophy Type 1
skipped — LLM skipped (--skip-llm)
- ctis·2025-524759-29-00·Authorised·COLOMBE - A multicentre, single arm, phase 1/2 study, aiming to assess the safety and efficacy of nivolumab and imiquimod combination in vulvar squamous cell carcinoma patients
skipped — LLM skipped (--skip-llm)
- ctis·2024-516253-49-01·Authorised, recruiting·HER2 molecular imaging with 89Zr-trastuzumab PET/CT as a predictive biomarker for antibody-drug conjugate sequencing in patients with advanced HER2-positive breast cancer
skipped — LLM skipped (--skip-llm)
- ctis·2024-519081-49-00·Authorised, ongoing·A multicenter, randomized, double-blind, placebo-controlled, Phase II platform study to assess the efficacy and safety of investigational compound(s) in patients with moderate to severe atopic dermatitis
skipped — LLM skipped (--skip-llm)
- ctis·2025-520538-49-00·Authorised·ACUMEN: Phase I Dose Escalation and Cohort Expansion study to affirm the safety of pharmacological doses of a novel formulation of intravenous melatonin in babies with hypoxic-ischaemic encephalopathy (HIE) to augment therapeutic hypothermia (HT) treatment; to reduce the incidence and severity of disability in babies with moderate-severe HIE.
skipped — LLM skipped (--skip-llm)
- ctis·2024-520317-49-02·Authorised·Intraperitoneal treatment with fosfomycin, metronidazole and recombinant human granulocyte-macrophage colony-stimulating factor in patients with multi-quadrant peritonitis undergoing abdominal surgery: A randomized placebo-controlled trial (TRIPLE)
skipped — LLM skipped (--skip-llm)
- ctis·2024-512511-49-00·Authorised·SAKK 66/22: Intratumoral INT230-6 followed by neoadjuvant immuno-chemotherapy in patients with early triple-negative breast cancer (TNBC). An open-label randomized two-cohort phase 2 clinical trial. INVINCIBLE-4-SAKK
skipped — LLM skipped (--skip-llm)
- ctis·2024-517883-49-00·Authorised, ongoing·The Role of the Amylin Analogue Cagrilintide in Bone Metabolism
skipped — LLM skipped (--skip-llm)
- ctis·2024-516367-80-00·Authorised, ongoing·Prospective randomized Phase II trial on Induction Immunochemotherapy followed by surgery or definitive chemoradiation and consolidation Durvalumab (MEDI4736) in resectable and borderline resectable stage IIIA/B NSCLC
skipped — LLM skipped (--skip-llm)
- ctis·2024-516510-38-00·Authorised, ongoing·Mesenchymal stromal cells for traumatic brain injury. A multicenter, double blind, randomized, placebo-controlled phase II trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-517396-20-00·Authorised·Phase 1 (sequential)/2a (parallel), double-blind, multicenter, randomized, controlled study to evaluate the safety and immunogenicity of two administrations of OVX033 sarbecovirus candidate vaccine, given intramuscularly (IM) at one-month interval, at three dose levels, in comparison to placebo, in subjects aged 18 years and older
skipped — LLM skipped (--skip-llm)
- ctis·2025-520487-18-00·Expired·Adaptive phase II randomized non-comparative trial of nivolumab after induction treatment in triple-negative breast cancer (TNBC) patients: TONIC-trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-517864-49-01·Authorised, ongoing·Metformin versus Tolvaptan in adults with Autosomal Dominant Polycystic Kidney Disease (ADPKD): a phase 3a, independent, multi- centre, 2 parallel arms randomized controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-518004-49-00·Authorised, ongoing·Oxytocin and attachment development: Looking beyond the expected?
skipped — LLM skipped (--skip-llm)
- ctis·2024-519066-49-01·Authorised, ongoing·Electrochemotherapy versus standard radiotherapy for the treatment of basal cell carcinoma
skipped — LLM skipped (--skip-llm)
- ctis·2024-518301-18-00·Authorised, ongoing·Phase 1 trial of trametinib and gilteritinib for the treatment of relapsed or refractory acute leukemia patients
skipped — LLM skipped (--skip-llm)
- ctis·2024-517946-32-00·Authorised, ongoing·A 12-month follow up study of probiotic supplementation effects in subjects with autoimmune uveitis.
skipped — LLM skipped (--skip-llm)
- ctis·2024-517804-12-00·Authorised, ongoing·Sacubitril/Valsartan in PriMAry preventIoN of the cardiotoxicity of systematic breaST canceR trEAtMent. Randomized, multicenter, double-blind, placebo-controlled study.
skipped — LLM skipped (--skip-llm)
- ctis·2024-516106-31-00·Expired·STAR-TREC: Can we Save the rectum by watchful waiting or TransAnal surgery following (chemo)Radiotherapy versus Total mesorectal excision for early REctal Cancer?
skipped — LLM skipped (--skip-llm)
- ctis·2024-515323-11-00·Expired·Prevention of cardiac Dysfunction during Adjuvant breast cancer therapy: A Randomized, Placebo-controlled, Multicenter Trial (PRADA-II)
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 Pentasomy X 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.
("Pentasomy X syndrome" OR "49,XXXXX syndrome" OR "49, XXXXX syndrome" OR "Penta X Syndrome" OR "Pentasomy type X" OR "XXXXX syndrome")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Pentasomy X syndrome" OR "49,XXXXX syndrome" OR "49, XXXXX syndrome" OR "Penta X Syndrome" OR "Pentasomy type X" OR "XXXXX syndrome" OR "Penta-X"
Recall-expansion terms: Penta-X
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"pentasomy"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: Penta-X; Poly-X
Confidence reasoning
- Preferred label is multi-word and distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (2375) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T12:04:46.978Z