ORPHA:98791
Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
Also known as: ATR syndrome linked to chromosome 16 · ATR syndrome, deletion type · ATR-16 syndrome · Alpha thalassemia-intellectual disability syndrome, deletion type
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,602
Trials
0
Interventional, condition-specific
Researchers
1,269
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007716
- MeSH:C563050
- OMIM:141750
- UMLS:C0795917
Additional Mondo synonyms (9)
ATR-16 Syndrome · Alpha thalassemia-intellectual disability syndrome · Alpha thalassemia-mental retardation syndrome · Alpha-thalassemia-intellectual disability syndrome linked to chromosome type 16 · alpha thalassemia-intellectual disability syndrome, deletion type · alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 · alpha-thalassemia/intellectual disability syndrome, deletion-type · alpha-thalassemia/intellectual disability syndrome, type 1 · alpha-thalassemia/mental retardation syndrome, deletion-type
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
1,602 matched papers (1,098 in last 10 years) Source
- Phenotype characterisedPresent
76 HPO annotations (e.g. Epicanthus; Upslanted palpebral fissure; Long philtrum) 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)
76
Associated phenotypes · MONDO:0007716
- Epicanthus
- Upslanted palpebral fissure
- Long philtrum
- Hypochromic microcytic anemia
- Protruding tongue
Showing 5 of 76 — 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?
1,602
1,602 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.
1,602 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).
1,098 in the last 10 years · low confidence
Phrase hits: 1,602 · MeSH hits: 0
Who's working on it?
1,269
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 Y7 papers · 2026
Department of Neurosurgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China.
Papers in Europe PMC - 02Li J6 papers · 2026
Renaissance School of Medicine, Stony Brook University, Stony Brook, NY 11794, USA.
Papers in Europe PMC - 03Wang Y6 papers · 2026
College of Future Technology, Peking University, Beijing, PR China.
Papers in Europe PMC - 04Zhang Y6 papers · 2026
Guangdong Provincial Key Laboratory of Translational Medicine in Lung Cancer, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, PR China.
Papers in Europe PMC - 05Bérubé NG5 papers · 2026
Department of Anatomy & Cell Biology, Western University, London, ON, Canada.
Papers in Europe PMC - 06
- 07Zhao Y5 papers · 2026
Musculoskeletal Tumor Center, Peking University People's Hospital, Beijing, PR China.
Papers in Europe PMC - 08Fu L4 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 - 09Li S4 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 - 10Li Y4 papers · 2025
Department of Neurosurgery, The First Hospital of Jilin University, Changchun, 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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)
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 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 — 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.
"Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16" OR "ATR syndrome linked to chromosome 16" OR "ATR syndrome, deletion type" OR "ATR-16 syndrome" OR "Alpha thalassemia-intellectual disability syndrome, deletion type" OR "Alpha thalassemia-intellectual disability syndrome" OR "Alpha thalassemia-mental retardation syndrome" OR "Alpha-thalassemia-intellectual disability syndrome linked to chromosome type 16" OR "alpha-thalassemia/intellectual disability syndrome, deletion-type" OR "alpha-thalassemia/intellectual disability syndrome, type 1" OR "alpha-thalassemia/mental retardation syndrome, deletion-type"
MeSH descriptor terms unioned into the query: Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16" OR "ATR syndrome linked to chromosome 16" OR "ATR syndrome, deletion type" OR "ATR-16 syndrome" OR "Alpha thalassemia-intellectual disability syndrome, deletion type" OR "Alpha thalassemia-intellectual disability syndrome" OR "Alpha thalassemia-mental retardation syndrome" OR "Alpha-thalassemia-intellectual disability syndrome linked to chromosome type 16" OR "alpha-thalassemia/intellectual disability syndrome, deletion-type" OR "alpha-thalassemia/intellectual disability syndrome, type 1" OR "alpha-thalassemia/mental retardation syndrome, deletion-type" OR "Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; 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 (1602) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T05:23:56.557Z