ORPHA:576278
SATB2-associated syndrome
Also known as: SAS
Publications
6,570
94.9th percentile
Trials
0
Interventional, condition-specific
Researchers
1,037
Distinct authors in sample
Gene link
SATB2
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare multisystem disorder characterized by moderate to severe / (DD/ID) with absent or limited speech development, various behavioral problems (including autistic features, hyperactivity, or aggressiveness), craniofacial and oral features. and feeding difficulties are frequent manifestations, especially during the period and early childhood. Other supportive findings may include abnormal brain imaging, EEG abnormalities, and skeletal anomalies with low bone density.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
Additional Mondo synonyms (1)
SATB2 associated disorder
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — SATB2
- LiteraturePresent
6,570 matched papers (5,433 in last 10 years) Source
- Phenotype characterisedPresent
146 HPO annotations (e.g. Cleft palate; Thin upper lip vermilion; Osteopenia) 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?
Yes — we know a specific gene responsible (SATB2).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
146
Associated phenotypes · MONDO:0100147
- Cleft palate
- Thin upper lip vermilion
- Osteopenia
- Absent speech
- Moderate intellectual disability
Showing 5 of 146 — 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?
6,570
6,570 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.
6,570 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).
5,433 in the last 10 years · medium confidence · 94.9th percentile (publications denominator)
Phrase hits: 132 · MeSH hits: 0
Who's working on it?
1,037
Distinct author names in 132 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.
- 01Zarate YA26 papers · 2026
Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, United States of America.
Papers in Europe PMC - 02Fish JL10 papers · 2024
Department of Biological Sciences, University of Massachusetts Lowell, Lowell, MA, United States of America. Electronic address: jennifer_fish@uml.edu.
Papers in Europe PMC - 03Caffrey AR9 papers · 2026
Health Outcomes, College of Pharmacy, Department of Pharmacy Practice, University of Rhode Island, Kingston, Rhode Island.
Papers in Europe PMC - 04Bosanko K7 papers · 2024
Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Papers in Europe PMC - 05Bosanko KA6 papers · 2022
Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Papers in Europe PMC - 06Kini U5 papers · 2023
Oxford Centre for Genomic Medicine, Oxford and Spires Cleft Centre, Oxford OX3 9DU, UK.
Papers in Europe PMC - 07Apostolova G4 papers · 2024
Institute for Neuroscience, Medical University of Innsbruck, Innsbruck, Austria.
Papers in Europe PMC - 08Dechant G4 papers · 2024
Institute for Neuroscience, Medical University of Innsbruck, Innsbruck, Austria.
Papers in Europe PMC - 09Varlamova EG4 papers · 2024
Federal Research Center "Pushchino Scientific Center for Biological Research of the Russian Academy of Sciences," Institute of Cell Biophysics of the Russian Academy of Sciences, 142290 Pushchino, Russia.
Papers in Europe PMC - 10Amiel J3 papers · 2025
Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), and Institut Imagine, Paris 75015, France; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Université de Paris, Paris 75015, France.
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.
medium 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).
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 SATB2-associated 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.
("SATB2-associated syndrome" OR "SATB2 associated disorder") OR ("SATB2" OR "SATB2 syndrome" OR "SATB2-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"SATB2-associated syndrome" OR "SATB2 associated disorder"
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
Synonyms dropped by stoplist: SAS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T18:38:19.578Z