ORPHA:847
X-linked alpha-thalassemia-intellectual disability syndrome
Also known as: ATR-X syndrome
Publications
14,308
Trials
0
Interventional, condition-specific
Researchers
1,232
Distinct authors in sample
Gene link
ATRX
Definitive
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
A rare X-linked syndromic characterized by profound , facial dysmorphism, genital abnormalities and alpha thalassemia.
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:0010519
- MeSH:C538258
- OMIM:301040
- UMLS:C1845055
- NCIT:C118631
Additional Mondo synonyms (9)
ATR, nondeletion type · Alpha Thalassemia X-linked Intellectual Disability Syndrome · Alpha thalassemia X-linked intellectual disability syndrome · Alpha thalassemia X-linked mental retardation syndrome · Alpha thalassemia/intellectual disability syndrome X-linked · Alpha thalassemia/mental retardation syndrome X-linked · alpha thalassemia-X-linked intellectual disability syndrome · alpha-thalassemia/intellectual disability syndrome nondeletion type · alpha-thalassemia/mental retardation syndrome, X-linked dominant
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
No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.
- Gene identifiedPresent
Definitive — ATRX
- LiteraturePresent
14,308 matched papers (11,760 in last 10 years) Source
- Phenotype characterisedPresent
122 HPO annotations (e.g. Abnormal heart morphology; Volvulus; Abnormality of movement) Source
- Animal modelPresent
4 genotype models (Mus musculus, Danio rerio) Source
- 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?
Yes — we know a specific gene responsible (ATRX).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
122
Associated phenotypes · MONDO:0010519
- Abnormal heart morphology
- Volvulus
- Abnormality of movement
- Self-injurious behavior
- Cryptorchidism
Showing 5 of 122 — open Monarch for the full list.
Animal models (Monarch / Alliance)
4
Model associations linked to this Mondo ID
- Atrxtm1Rjg/Y Tg(Nes-cre)2472Pick/0 [background:] involves: 129P2/OlaHsd * C57BL/6 * FVB/N·MGI:3530076·Mus musculus
- atrxzdf36/zdf36 (AB)·ZFIN:ZDB-FISH-210427-5·Danio rerio
- Atrxtm1Rjg/Y Foxg1tm1(cre)Skm/Foxg1+ [background:] involves: 129P2/OlaHsd * C57BL/6 * FVB/N·MGI:3530074·Mus musculus
- Atrxtm1Rjg/Y Tg(Pax6-cre,GFP)2Pgr/0 [background:] involves: 129P2/OlaHsd * C57BL/6 * FVB/N·MGI:3834848·Mus musculus
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?
14,308
14,308 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.
14,308 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).
11,760 in the last 10 years · low confidence
Phrase hits: 1,420 · MeSH hits: 0
Who's working on it?
1,232
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.
- 01Liu Y11 papers · 2026
Department of Neurosurgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China.
Papers in Europe PMC - 02Wang Z9 papers · 2026
Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu 222000, China.
Papers in Europe PMC - 03Zhang S8 papers · 2025
Department of Neurosurgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China.
Papers in Europe PMC - 04Chen S7 papers · 2023
Department of Neurosurgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China.
Papers in Europe PMC - 05Li J7 papers · 2023
Department of Neurosurgery, Chengdu Second People's Hospital, Chengdu, Sichuan, China.
Papers in Europe PMC - 06Yuan Y7 papers · 2023
Department of Neurosurgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China.
Papers in Europe PMC - 07Li W6 papers · 2026
Department of Neurosurgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China.
Papers in Europe PMC - 08Wang Y6 papers · 2026
Department of Rehabilitation, Anhui Provincial Children's Hospital, Hefei, China.
Papers in Europe PMC - 09Feng W5 papers · 2023
Department of Neurosurgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China.
Papers in Europe PMC - 10Li S5 papers · 2025
State Key Laboratory of Oncology in South China, Guangdong Provincial Clinical Research Center for Cancer, Sun Yat-sen University Cancer Center, Guangzhou, 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 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.
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.
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 11 · after dedupe 11 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 11 · 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 (11)
- ctis·2025-520479-25-00·Authorised·A Phase 3, Multicenter, Double-Blinded, Randomized Study to Evaluate REGN7508, a Factor XI Monoclonal Antibody, Versus Acetylsalicylic Acid for Prophylaxis of Symptomatic Venous Thromboembolism After Elective Total Knee Arthroplasty (ROXI-ASPEN)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523071-34-00·Authorised·Adductor canal and IPACK (infiltration between the popliteal artery and the capsule of the knee) blocks versus genicular nerves block for total knee arthroplasty: A randomized clinical trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-519393-39-00·Authorised, ongoing·A Phase 2, Open-label, Basket Study Investigating the Safety and Efficacy of GTX-102 in Adult and Pediatric Subjects with Deletion- or Nondeletion-type Angelman Syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2024-511534-12-00·Authorised, ongoing·A Phase I/IIa, Open-label, Multi-center Study to Assess the Safety, Tolerability, Pharmacokinetics and Preliminary Efficacy of the ATR Kinase Inhibitor ART0380 Administered Orally as Monotherapy and in Combination to Patients with Advanced or Metastatic Solid Tumors
skipped — LLM skipped (--skip-llm)
- ctis·2024-511202-23-00·Expired·An open-label, multicenter, randomized Phase 2 study of the ATR inhibitor tuvusertib in combination with the PARP inhibitor niraparib or the ATM inhibitor lartesertib in participants with BRCA mutant and/or homologous recombination deficiency (HRD) positive epithelial ovarian cancer that progressed on prior PARP inhibitor therapy (DDRiver EOC 302)
skipped — LLM skipped (--skip-llm)
- ctis·2023-507485-10-00·Authorised, recruiting·MATRIX-IPC 2022-029 A phase I/II study evaluating Tuvusertib (M1774), an ATR Inhibitor, in combination with fulvestrant in hormone receptors-positive and HER2-negative, advanced breast cancers, resistant to CDK4/6 inhibitor plus aromatase inhibitor-based endocrine treatment and with homologous recombination deficiency, oncogenic driver activation and/or other molecular alterations associated with replication stress (RS)
skipped — LLM skipped (--skip-llm)
- ctis·2023-509499-41-00·Cancelled·TARSARC : TARGETING ATR IN SOFT-TISSUE SARCOMAS: A RANDOMIZED PHASE II STUDY
skipped — LLM skipped (--skip-llm)
- ctis·2023-505431-12-00·Cancelled·M1774 (oral ATR inhibitor) in Combination with PLX038 (Topo1 inhibitor) with dose expansion cohorts in patients with advanced solid tumors
skipped — LLM skipped (--skip-llm)
- ctis·2023-508797-28-00·Cancelled·The Attractive 2 trial – An open-label, randomised, 2-period cross-over trial to assess the pharmacokinetics of ATR-258 oral capsule vs. oral solution formulations in healthy volunteers
skipped — LLM skipped (--skip-llm)
- ctis·2022-502010-85-00·Expired·An open-label, multicenter, Phase 1b/2a study to evaluate efficacy, safety, tolerability, and pharmacokinetics of the ATR inhibitor Tuvusertib (M1774) in combination with cemiplimab in participants with non-squamous non-small cell lung cancer that has progressed on prior anti-PD-(L)1 and platinum-based therapies (DDRiver NSCLC 322)
skipped — LLM skipped (--skip-llm)
- ctis·2023-504153-12-00·Cancelled·A Phase II, Open-label, Multi-center, Basket Study of the ATR Kinase Inhibitor ART0380 Administered Orally as Monotherapy to Patients with Biologically Selected Advanced or Metastatic Solid Tumors (ARTIST)
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 X-linked alpha-thalassemia-intellectual disability 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.
("X-linked alpha-thalassemia-intellectual disability syndrome" OR "ATR-X syndrome" OR "ATR, nondeletion type" OR "Alpha Thalassemia X-linked Intellectual Disability Syndrome" OR "Alpha thalassemia X-linked mental retardation syndrome" OR "Alpha thalassemia/intellectual disability syndrome X-linked" OR "Alpha thalassemia/mental retardation syndrome X-linked" OR "alpha thalassemia-X-linked intellectual disability syndrome" OR "alpha-thalassemia/intellectual disability syndrome nondeletion type" OR "alpha-thalassemia/mental retardation syndrome, X-linked dominant") OR ("ATRX" OR "ATRX syndrome" OR "ATRX-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked alpha-thalassemia-intellectual disability syndrome" OR "ATR-X syndrome" OR "ATR, nondeletion type" OR "Alpha Thalassemia X-linked Intellectual Disability Syndrome" OR "Alpha thalassemia X-linked mental retardation syndrome" OR "Alpha thalassemia/intellectual disability syndrome X-linked" OR "Alpha thalassemia/mental retardation syndrome X-linked" OR "alpha thalassemia-X-linked intellectual disability syndrome" OR "alpha-thalassemia/intellectual disability syndrome nondeletion type" OR "alpha-thalassemia/mental retardation syndrome, X-linked dominant"
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
- Publication count (14308) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T15:38:02.562Z