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ORPHA:847

X-linked alpha-thalassemia-intellectual disability syndrome

low confidenceDisorder

Also known as: ATR-X syndrome

Publications

1,420

Trials

1

Interventional, condition-specific

Researchers

1,232

Distinct authors in sample

Gene link

ATRX

Definitive

Readiness

3/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — ATRX

  2. LiteraturePresent

    1,420 matched papers (971 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov (1 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?

Yes — we know a specific gene responsible (ATRX).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

1,420

1,420 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=5449) is 41.

1,420 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

971 in the last 10 years · low confidence

Phrase hits: 1,420 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,232

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
    Liu Y11 papers · 2026

    Department of Neurosurgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China.

    Papers in Europe PMC
  2. 02
    Wang Z9 papers · 2026

    Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu 222000, China.

    Papers in Europe PMC
  3. 03
    Zhang S8 papers · 2025

    Department of Neurosurgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China.

    Papers in Europe PMC
  4. 04
    Chen S7 papers · 2023

    Department of Neurosurgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China.

    Papers in Europe PMC
  5. 05
    Li J7 papers · 2023

    Department of Neurosurgery, Chengdu Second People's Hospital, Chengdu, Sichuan, China.

    Papers in Europe PMC
  6. 06
    Yuan Y7 papers · 2023

    Department of Neurosurgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China.

    Papers in Europe PMC
  7. 07
    Li W6 papers · 2026

    Department of Neurosurgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China.

    Papers in Europe PMC
  8. 08
    Wang Y6 papers · 2026

    Department of Rehabilitation, Anhui Provincial Children's Hospital, Hefei, China.

    Papers in Europe PMC
  9. 09
    Feng W5 papers · 2023

    Department of Neurosurgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China.

    Papers in Europe PMC
  10. 10
    Li 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?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

low confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

2 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

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This 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"

Run this search on Europe PMC

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" OR "ATRX"

Recall-expansion terms: ATRX

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: 1 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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 (1420) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T15:38:02.562Z