ORPHA:352490
Autism spectrum disorder due to AUTS2 deficiency
Also known as: ASD due to AUTS2 deficiency · AUTS2 syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
85
62.1th percentile
Trials
0
Interventional, condition-specific
Researchers
805
Distinct authors in sample
Gene link
AUTS2
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic syndromic characterized by global and borderline to severe , autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular , microcephaly, characteristic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, heart defects, cryptorchidism and .
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:0014361
- OMIM:615834
- UMLS:C4014435
Additional Mondo synonyms (6)
MRD26 · autism spectrum disorder due to AUTS2 deficiency · intellectual developmental disorder, autosomal dominant 26 · intellectual disability type 26 · mental retardation, autosomal dominant 26 · mental retardation, autosomal dominant type 26
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
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 — AUTS2
- LiteraturePresent
85 matched papers (78 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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 (AUTS2).
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?
85
85 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
85 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).
78 in the last 10 years · high confidence · 62.1th percentile (publications denominator)
Phrase hits: 85 · MeSH hits: 0
Who's working on it?
805
Distinct author names in 85 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.
- 01Beunders G4 papers · 2025
Department of Clinical Genetics, VU University Medical Center, Amsterdam 1007 MB, The Netherlands.
Papers in Europe PMC - 02Borchers A4 papers · 2025
Department of Biology, Molecular Embryology, Philipps-University Marburg, 35043 Marburg, Germany.
Papers in Europe PMC - 03Hori K4 papers · 2025
Department of Biochemistry and Cellular Biology, National Institute of Neuroscience, NCNP, Tokyo 187-8502, Japan. Electronic address: khori@ncnp.go.jp.
Papers in Europe PMC - 04Hoshino M4 papers · 2025
Department of Biochemistry and Cellular Biology, National Institute of Neuroscience, NCNP, Tokyo 187-8502, Japan. Electronic address: hoshino@ncnp.go.jp.
Papers in Europe PMC - 05Li Z4 papers · 2025
Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China.
Papers in Europe PMC - 06Pauli S4 papers · 2025
Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.
Papers in Europe PMC - 07Alonso J3 papers · 2021
Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.
Papers in Europe PMC - 08Berger H3 papers · 2024
Department of Biology, Molecular Embryology, Philipps-University Marburg, 35043 Marburg, Germany.
Papers in Europe PMC - 09Bermejo-Sánchez E3 papers · 2021
Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.
Papers in Europe PMC - 10Biel A3 papers · 2023
The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.
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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
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
- NCT01238250·RECRUITING·Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Conditions: 16P11.2 Deletion Syndrome · 16p11.2 Duplications · 1Q21.1 Deletion · 1Q21.1 Microduplication Syndrome (Disorder)·Matched via name phrase
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 2026-07-26This 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.
"Autism spectrum disorder due to AUTS2 deficiency" OR "ASD due to AUTS2 deficiency" OR "AUTS2 syndrome" OR "MRD26" OR "intellectual developmental disorder, autosomal dominant 26" OR "intellectual disability type 26" OR "mental retardation, autosomal dominant 26" OR "mental retardation, autosomal dominant type 26"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autism spectrum disorder due to AUTS2 deficiency" OR "ASD due to AUTS2 deficiency" OR "AUTS2 syndrome" OR "MRD26" OR "intellectual developmental disorder, autosomal dominant 26" OR "intellectual disability type 26" OR "mental retardation, autosomal dominant 26" OR "mental retardation, autosomal dominant type 26" OR "AUTS2"
Recall-expansion terms: AUTS2
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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
Ingested 2026-07-27T14:12:38.202Z